# geneInfo

ensembl_gene_id: ENSPPYP00000000006
symbol: SH3BP5L
gene_biotype: protein_coding
description:
  SH3 domain-binding protein 5-like; Functions as guanine nucleotide exchange factor (GEF) for RAB11A.


ensembl_gene_id: ENSPPYP00000000043
symbol: TFB2M
gene_biotype: protein_coding
description:
  rRNA adenine N(6)-methyltransferase; Belongs to the class I-like SAM-binding methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family.


ensembl_gene_id: ENSPPYP00000000052
symbol: DESI2
gene_biotype: protein_coding
description:
  Deubiquitinase DESI2; Has deubiquitinating activity towards 'Lys-48'- and 'Lys-63'- linked polyubiquitin chains. Deubiquitinates 'Lys-48'-linked polyubiquitination of RPS7 leading to its stabilization. Belongs to the DeSI family.


ensembl_gene_id: ENSPPYP00000000054
symbol: ADSS2
gene_biotype: protein_coding
description:
  Adenylosuccinate synthetase isozyme 2; Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first commited step in the biosynthesis of AMP from IMP.


ensembl_gene_id: ENSPPYP00000000068
symbol: KMO
gene_biotype: protein_coding
description:
  Kynurenine 3-monooxygenase; Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract.


ensembl_gene_id: ENSPPYP00000000075
symbol: CHRM3
gene_biotype: protein_coding
description:
  Muscarinic acetylcholine receptor; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins.


ensembl_gene_id: ENSPPYP00000000080
symbol: MT1HL1
gene_biotype: protein_coding
description:
  Metallothionein; Metallothioneins have a high content of cysteine residues that bind various heavy metals.


ensembl_gene_id: ENSPPYP00000000082
symbol: MTR
gene_biotype: protein_coding
description:
  Methionine synthase; Catalyzes the transfer of a methyl group from methyl- cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate.


ensembl_gene_id: ENSPPYP00000000094
symbol: GNG4
gene_biotype: protein_coding
description:
  Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.


ensembl_gene_id: ENSPPYP00000000096
symbol: TBCE
gene_biotype: protein_coding
description:
  Tubulin-specific chaperone E; Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of the neuronal microtubule network.


ensembl_gene_id: ENSPPYP00000000099
symbol: TOMM20
gene_biotype: protein_coding
description:
  Mitochondrial import receptor subunit TOM20 homolog; Central component of the receptor complex responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with TOM22 functions as the transit peptide receptor at the surface of the mitochondrion outer membrane and facilitates the movement of preproteins into the TOM40 translocation pore (By similarity). Required for the translocation across the mitochondrial outer membrane of cytochrome P450 monooxygenases. Belongs to the Tom20 family.


ensembl_gene_id: ENSPPYP00000000105
symbol: KCNK1
gene_biotype: protein_coding
description:
  Potassium channel subfamily K member 1; Ion channel that contributes to passive transmembrane potassium transport and to the regulation of the resting membrane potential in brain astrocytes, but also in kidney and in other tissues. Forms dimeric channels through which potassium ions pass in accordance with their electrochemical gradient. The channel is selective for K(+) ions at physiological potassium concentrations and at neutral pH, but becomes permeable to Na(+) at subphysiological K(+) levels, and upon acidification of the extracellular medium. The homodimer has very low potassium [...]


ensembl_gene_id: ENSPPYP00000000113
symbol: TSNAX
gene_biotype: protein_coding
description:
  Translin-associated protein X; Acts in combination with TSN as an endonuclease involved in the activation of the RNA-induced silencing complex (RISC). Possible role in spermatogenesis (By similarity); Belongs to the translin family.


ensembl_gene_id: ENSPPYP00000000129
symbol: ACTA1
gene_biotype: protein_coding
description:
  Actin, alpha skeletal muscle, intermediate form; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.


ensembl_gene_id: ENSPPYP00000000142
symbol: GJC2
gene_biotype: protein_coding
description:
  Gap junction protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.


ensembl_gene_id: ENSPPYP00000000148
symbol: WNT3A
gene_biotype: protein_coding
description:
  Protein Wnt; Ligand for members of the frizzled family of seven transmembrane receptors; Belongs to the Wnt family.


ensembl_gene_id: ENSPPYP00000000156
symbol: CDC42BPA
gene_biotype: protein_coding
description:
  Non-specific serine/threonine protein kinase; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.


ensembl_gene_id: ENSPPYP00000000158
symbol: PSEN2
gene_biotype: protein_coding
description:
  Presenilin-2 CTF subunit; Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid- beta precursor protein). Requires the other members of the gamma- secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins. The holoprotein functions as a calcium-leak channel that allows the passive movement o [...]


ensembl_gene_id: ENSPPYP00000000162
symbol: PARP1
gene_biotype: protein_coding
description:
  Poly [ADP-ribose] polymerase; Poly-ADP-ribosyltransferase that mediates poly-ADP- ribosylation of proteins and plays a key role in DNA repair.


ensembl_gene_id: ENSPPYP00000000166
symbol: H3-3A
gene_biotype: protein_coding
description:
  Histone H3.3; Variant histone H3 which replaces conventional H3 in a wide range of nucleosomes in active genes. Constitutes the predominant form of histone H3 in non-dividing cells and is incorporated into chromatin independently of DNA synthesis. Deposited at sites of nucleosomal displacement throughout transcribed genes, suggesting that it represents an epigenetic imprint of transcriptionally active chromatin. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in [...]


ensembl_gene_id: ENSPPYP00000000167
symbol: SDE2
gene_biotype: protein_coding
description:
  Replication stress response regulator SDE2; Involved in both DNA replication and cell cycle control. Unprocessed SDE2 interacts with PCNA via its PIP-box. The interaction with PCNA prevents monoubiquitination of the latter thereby inhibiting translesion DNA synthesis. The binding of SDE2 to PCNA also leads to processing of SDE2 by an unidentified deubiquitinating enzyme, cleaving off the N-terminal ubiquitin-like domain. The resulting mature SDE2 is degraded by the DCX(DTL) complex in a cell cycle- and DNA damage dependent manner. Binding of SDE2 to PCNA is necessary to counteract dama [...]


ensembl_gene_id: ENSPPYP00000000169
symbol: PYCR2
gene_biotype: protein_coding
description:
  Pyrroline-5-carboxylate reductase 2; Housekeeping enzyme that catalyzes the last step in proline biosynthesis. In some cell types, such as erythrocytes, its primary function may be the generation of NADP(+). Can utilize both NAD and NADP. Has higher affinity for NADP, but higher catalytic efficiency with NADH (By similarity). Involved in cellular response to oxidative stress (By similarity); Belongs to the pyrroline-5-carboxylate reductase family.


ensembl_gene_id: ENSPPYP00000000173
symbol: EPHX1
gene_biotype: protein_coding
description:
  Epoxide hydrolase; Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water. Belongs to the peptidase S33 family.


ensembl_gene_id: ENSPPYP00000000174
symbol: SRP9
gene_biotype: protein_coding
description:
  Signal recognition particle 9 kDa protein; Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP. The complex of SRP9 and SRP14 is required for SRP RNA binding.


ensembl_gene_id: ENSPPYP00000000176
symbol: LBR
gene_biotype: protein_coding
description:
  Delta(14)-sterol reductase LBR; Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (By similarity). Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (By similarity). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid raft formation during neutrophil differentiation (By similarity). Anchors the lamina and the heterochromatin to the inner nuclear [...]


ensembl_gene_id: ENSPPYP00000000183
symbol: CNIH4
gene_biotype: protein_coding
description:
  Protein cornichon homolog 4; Involved in G protein-coupled receptors (GPCRs) trafficking from the endoplasmic reticulum to the cell surface; it promotes the exit of GPCRs from the early secretory pathway, likely through interaction with the COPII machinery.


ensembl_gene_id: ENSPPYP00000000193
symbol: SUSD4
gene_biotype: protein_coding
description:
  Sushi domain-containing protein 4; Acts as complement inhibitor by disrupting the formation of the classical C3 convertase. Isoform 3 inhibits the classical complement pathway, while membrane-bound isoform 1 inhibits deposition of C3b via both the classical and alternative complement pathways.


ensembl_gene_id: ENSPPYP00000000199
symbol: AIDA
gene_biotype: protein_coding
description:
  Axin interactor, dorsalization-associated protein; Acts as a ventralizing factor during embryogenesis. Inhibits axin-mediated JNK activation by binding axin and disrupting axin homodimerization. This in turn antagonizes a Wnt/beta-catenin- independent dorsalization pathway activated by AXIN/JNK-signaling (By similarity); Belongs to the AIDA family.


ensembl_gene_id: ENSPPYP00000000204
symbol: DUSP10
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 10; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPPYP00000000218
symbol: LYPLAL1
gene_biotype: protein_coding
description:
  Lysophospholipase-like protein 1; Has depalmitoylating activity toward KCNMA1. Does not exhibit phospholipase nor triacylglycerol lipase activity, able to hydrolyze only short chain substrates due to its shallow active site (By similarity); Belongs to the AB hydrolase superfamily. AB hydrolase 2 family.


ensembl_gene_id: ENSPPYP00000000224
symbol: ESRRG
gene_biotype: protein_coding
description:
  Estrogen-related receptor gamma; Orphan receptor that acts as transcription activator in the absence of bound ligand. Binds specifically to an estrogen response element and activates reporter genes controlled by estrogen response elements. Induces the expression of PERM1 in the skeletal muscle (By similarity).


ensembl_gene_id: ENSPPYP00000000227
symbol: KCNK2
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 2; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSPPYP00000000229
symbol: PTPN14
gene_biotype: protein_coding
description:
  Tyrosine-protein phosphatase non-receptor type; Belongs to the protein-tyrosine phosphatase family. Non- receptor class subfamily.


ensembl_gene_id: ENSPPYP00000000246
symbol: PPP2R5A
gene_biotype: protein_coding
description:
  Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.


ensembl_gene_id: ENSPPYP00000000266
symbol: G0S2
gene_biotype: protein_coding
description:
  G0/G1 switch protein 2; Promotes apoptosis by binding to BCL2, hence preventing the formation of protective BCL2-BAX heterodimers.


ensembl_gene_id: ENSPPYP00000000275
symbol: CD46
gene_biotype: protein_coding
description:
  Membrane cofactor protein; Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T-cells which induces the differentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore are thought to prevent autoimmunity (By similarity).


ensembl_gene_id: ENSPPYP00000000288
symbol: PFKFB2
gene_biotype: protein_coding
description:
  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2; Synthesis and degradation of fructose 2,6-bisphosphate. In the C-terminal section; belongs to the phosphoglycerate mutase family.


ensembl_gene_id: ENSPPYP00000000292
symbol: FCAMR
gene_biotype: protein_coding
description:
  High affinity immunoglobulin alpha and immunoglobulin mu Fc receptor; Functions as a receptor for the Fc fragment of IgA and IgM. Binds IgA and IgM with high affinity and mediates their endocytosis. May function in the immune response to microbes mediated by IgA and IgM (By similarity).


ensembl_gene_id: ENSPPYP00000000303
symbol: EIF2D
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 2D; Translation initiation factor that is able to deliver tRNA to the P-site of the eukaryotic ribosome in a GTP-independent manner. The binding of Met-tRNA(I) occurs after the AUG codon finds its position in the P-site of 40S ribosomes, the situation that takes place during initiation complex formation on some specific RNAs. Its activity in tRNA binding with 40S subunits does not require the presence of the aminoacyl moiety. Possesses the unique ability to deliver non-Met (elongator) tRNAs into the P-site of the 40S subunit. In addition to its  [...]


ensembl_gene_id: ENSPPYP00000000312
symbol: AVPR1B
gene_biotype: protein_coding
description:
  Vasopressin V1b receptor; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system. Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.


ensembl_gene_id: ENSPPYP00000000315
symbol: SLC26A9
gene_biotype: protein_coding
description:
  Solute carrier family 26 member 9; DIDS- and thiosulfate- sensitive anion exchanger mediating chloride, sulfate and oxalate transport. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSPPYP00000000317
symbol: SLC41A1
gene_biotype: protein_coding
description:
  Solute carrier family 41 member 1; Acts as a magnesium transporter that is responsive to magnesium balance; Belongs to the SLC41A transporter family.


ensembl_gene_id: ENSPPYP00000000318
symbol: RAB29
gene_biotype: protein_coding
description:
  Ras-related protein Rab-7L1; The small GTPases Rab are key regulators in vesicle trafficking (By similarity). Essential for maintaining the integrity of endosome-trans-Golgi network structure (By similarity). Together with LRRK2, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner (By similarity). Recruits LRRK2 to the Golgi apparatus and stimulates LRRK2 kinase activity (By similarity). Regulates also neuronal process morphology in the intact cen [...]


ensembl_gene_id: ENSPPYP00000000327
symbol: CDK18
gene_biotype: protein_coding
description:
  Cyclin-dependent kinase 18; May play a role in signal transduction cascades in terminally differentiated cells.


ensembl_gene_id: ENSPPYP00000000331
symbol: NUAK2
gene_biotype: protein_coding
description:
  NUAK family SNF1-like kinase 2; Stress-activated kinase involved in tolerance to glucose starvation. Induces cell-cell detachment by increasing F-actin conversion to G-actin. Expression is induced by CD95 or TNF-alpha, via NF-kappa-B. Protects cells from CD95-mediated apoptosis and is required for the increased motility and invasiveness of CD95-activated tumor cells. Able to phosphorylate 'Ser-464' of LATS1 (By similarity). Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.


ensembl_gene_id: ENSPPYP00000000346
symbol: MDM4
gene_biotype: protein_coding
description:
  Protein Mdm4; Inhibits p53- and p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Belongs to the MDM2/MDM4 family.


ensembl_gene_id: ENSPPYP00000000347
symbol: PIK3C2B
gene_biotype: protein_coding
description:
  Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSPPYP00000000360
symbol: SNRPE
gene_biotype: protein_coding
description:
  Small nuclear ribonucleoprotein E; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. As part of the U7 snRNP it is involved in histone 3'-end processing. May indirectly play a role in hair development.


ensembl_gene_id: ENSPPYP00000000361
symbol: ZC3H11A
gene_biotype: protein_coding
description:
  Zinc finger CCCH domain-containing protein 11A; Involved in nuclear mRNA export; probably mediated by association with the TREX complex.


ensembl_gene_id: ENSPPYP00000000364
symbol: ATP2B4
gene_biotype: protein_coding
description:
  Calcium-transporting ATPase; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium.


ensembl_gene_id: ENSPPYP00000000371
symbol: CHI3L1
gene_biotype: protein_coding
description:
  Chitinase-3-like protein 1; Carbohydrate-binding lectin with a preference for chitin. Has no chitinase activity. May play a role in tissue remodeling and in the capacity of cells to respond to and cope with changes in their environment. Plays a role in T-helper cell type 2 (Th2) inflammatory response and IL-13-induced inflammation, regulating allergen sensitization, inflammatory cell apoptosis, dendritic cell accumulation and M2 macrophage differentiation. Facilitates invasion of pathogenic enteric bacteria into colonic mucosa and lymphoid organs. Mediates activation of AKT1 signaling  [...]


ensembl_gene_id: ENSPPYP00000000373
symbol: ADORA1
gene_biotype: protein_coding
description:
  Adenosine receptor A1; Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase (By similarity). Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPPYP00000000378
symbol: CYB5R1
gene_biotype: protein_coding
description:
  NADH-cytochrome b5 reductase; Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.


ensembl_gene_id: ENSPPYP00000000398
symbol: TIMM17A
gene_biotype: protein_coding
description:
  Mitochondrial import inner membrane translocase subunit TIM17; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.


ensembl_gene_id: ENSPPYP00000000432
symbol: ATP6V1G3
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit G; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.


ensembl_gene_id: ENSPPYP00000000448
symbol: B3GALT2
gene_biotype: protein_coding
description:
  Beta-1,3-galactosyltransferase 2; Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N- acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha- GalNAc) residues.


ensembl_gene_id: ENSPPYP00000000449
symbol: GLRX2
gene_biotype: protein_coding
description:
  Glutaredoxin-2, mitochondrial; Glutathione-dependent oxidoreductase that facilitates the maintenance of mitochondrial redox homeostasis upon induction of apoptosis by oxidative stress. Involved in response to hydrogen peroxide and regulation of apoptosis caused by oxidative stress. Acts as a very efficient catalyst of monothiol reactions because of its high affinity for protein glutathione-mixed disulfides. Can receive electrons not only from glutathione (GSH), but also from thioredoxin reductase supporting both monothiol and dithiol reactions. Efficiently catalyzes both glutathionylat [...]


ensembl_gene_id: ENSPPYP00000000461
symbol: PLA2G4A
gene_biotype: protein_coding
description:
  Cytosolic phospholipase A2; Selectively hydrolyzes arachidonyl phospholipids in the sn-2 position releasing arachidonic acid. Together with its lysophospholipid activity, it is implicated in the initiation of the inflammatory response (By similarity).


ensembl_gene_id: ENSPPYP00000000464
symbol: ODR4
gene_biotype: protein_coding
description:
  Protein odr-4 homolog; May play a role in the trafficking of a subset of G-protein coupled receptors; Belongs to the ODR-4 family.


ensembl_gene_id: ENSPPYP00000000473
symbol: RNF2
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RING2; E3 ubiquitin-protein ligase that mediates monoubiquitination of 'Lys-119' of histone H2A (H2AK119Ub), thereby playing a central role in histone code and gene regulation. H2AK119Ub gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. May be involved in the initiation of both imprinted and random X inactivation. Essential component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, i [...]


ensembl_gene_id: ENSPPYP00000000483
symbol: ARPC5
gene_biotype: protein_coding
description:
  Actin-related protein 2/3 complex subunit 5; Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility. In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA [...]


ensembl_gene_id: ENSPPYP00000000486
symbol: NMNAT2
gene_biotype: protein_coding
description:
  Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2; Nicotinamide/nicotinate-nucleotide adenylyltransferase that acts as an axon maintenance factor (By similarity). Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate but with a lower efficiency. Cannot use triazofurin monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity prefers NAD(+), NADH and NaAD as substra [...]


ensembl_gene_id: ENSPPYP00000000490
symbol: DHX9
gene_biotype: protein_coding
description:
  ATP-dependent RNA helicase A; Multifunctional ATP-dependent nucleic acid helicase that unwinds DNA and RNA in a 3' to 5' direction and that plays important roles in many processes, such as DNA replication, transcriptional activation, post-transcriptional RNA regulation, mRNA translation and RNA-mediated gene silencing. Requires a 3'-single-stranded tail as entry site for acid nuclei unwinding activities as well as the binding and hydrolyzing of any of the four ribo- or deoxyribo-nucleotide triphosphates (NTPs). Unwinds numerous nucleic acid substrates such as double-stranded (ds) DNA a [...]


ensembl_gene_id: ENSPPYP00000000491
symbol: NPL
gene_biotype: protein_coding
description:
  N-acetylneuraminate lyase; Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway (By similarity); Belongs to the DapA family. NanA subfamily.


ensembl_gene_id: ENSPPYP00000000503
symbol: CACNA1E
gene_biotype: protein_coding
description:
  Voltage-dependent R-type calcium channel subunit alpha; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents.


ensembl_gene_id: ENSPPYP00000000505
symbol: MR1
gene_biotype: protein_coding
description:
  Major histocompatibility complex class I-related gene protein; Antigen-presenting molecule specialized in presenting microbial vitamin B metabolites. Involved in the development and expansion of a small population of T-cells expressing an invariant T- cell receptor alpha chain called mucosal-associated invariant T-cells (MAIT). MAIT lymphocytes are preferentially located in the gut lamina propria and therefore may be involved in monitoring commensal flora or serve as a distress signal. Expression and MAIT cell recognition seem to be ligand-dependent (By similarity).


ensembl_gene_id: ENSPPYP00000000519
symbol: QSOX1
gene_biotype: protein_coding
description:
  Sulfhydryl oxidase 1; Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. Plays a role in disulfide bond formation in a variety of extracellular proteins. In fibroblasts, required for normal incorporation of laminin into the extracellular matrix, and thereby for normal cell-cell adhesion and cell migration. Belongs to the quiescin-sulfhydryl oxidase (QSOX) family.


ensembl_gene_id: ENSPPYP00000000522
symbol: TOR1AIP1
gene_biotype: protein_coding
description:
  Torsin-1A-interacting protein 1; Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina (By similarity).


ensembl_gene_id: ENSPPYP00000000549
symbol: SEC16B
gene_biotype: protein_coding
description:
  Protein transport protein sec16; Plays a role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus.


ensembl_gene_id: ENSPPYP00000000550
symbol: BRINP2
gene_biotype: protein_coding
description:
  BMP/retinoic acid-inducible neural-specific protein 2; Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition; Belongs to the BRINP family.


ensembl_gene_id: ENSPPYP00000000558
symbol: CACYBP
gene_biotype: protein_coding
description:
  Calcyclin-binding protein; May be involved in calcium-dependent ubiquitination and subsequent proteasomal degradation of target proteins. Probably serves as a molecular bridge in ubiquitin E3 complexes. Participates in the ubiquitin-mediated degradation of beta-catenin (CTNNB1) (By similarity).


ensembl_gene_id: ENSPPYP00000000563
symbol: RABGAP1L
gene_biotype: protein_coding
description:
  Rab GTPase-activating protein 1-like; GTP-hydrolysis activating protein (GAP) for small GTPase RAB22A, converting active RAB22A-GTP to the inactive form RAB22A-GDP (By similarity). Plays a role in endocytosis and intracellular protein transport. Recruited by ANK2 to phosphatidylinositol 3-phosphate (PI3P)-positive early endosomes, where it inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables [...]


ensembl_gene_id: ENSPPYP00000000566
symbol: SERPINC1
gene_biotype: protein_coding
description:
  Antithrombin-III; Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin (By similarity).


ensembl_gene_id: ENSPPYP00000000573
symbol: KLHL20
gene_biotype: protein_coding
description:
  Kelch-like protein 20; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response and anterograde Golgi to endosome transport. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to its degradation by the proteasome, thereby acting as a negative regulator of apoptosis. The BCR(KLHL20) E3 ubiquitin ligase complex also specifically mediates 'Lys-33'-linked ubiquitination. Involved in anterograde Golgi to endosome transport by mediating 'Lys-33'-linked ubiquitination of CORO7, promoting inte [...]


ensembl_gene_id: ENSPPYP00000000587
symbol: DNM3
gene_biotype: protein_coding
description:
  DNM3 isoform 4; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPPYP00000000598
symbol: FMO2
gene_biotype: protein_coding
description:
  Dimethylaniline monooxygenase [N-oxide-forming] 2; This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides.


ensembl_gene_id: ENSPPYP00000000614
symbol: SELL
gene_biotype: protein_coding
description:
  L-selectin; Calcium-dependent lectin that mediates cell adhesion by binding to glycoproteins on neighboring cells. Mediates the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes. Promotes initial tethering and rolling of leukocytes in endothelia.


ensembl_gene_id: ENSPPYP00000000619
symbol: CCDC181
gene_biotype: protein_coding
description:
  Coiled-coil domain-containing protein 181; Microtubule-binding protein that localizes to the microtubular manchette of elongating spermatids.


ensembl_gene_id: ENSPPYP00000000625
symbol: ATP1B1
gene_biotype: protein_coding
description:
  Sodium/potassium-transporting ATPase subunit beta-1; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane (By similarity).


ensembl_gene_id: ENSPPYP00000000631
symbol: SFT2D2
gene_biotype: protein_coding
description:
  Vesicle transport protein; May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex. Belongs to the SFT2 family.


ensembl_gene_id: ENSPPYP00000000636
symbol: DCAF6
gene_biotype: protein_coding
description:
  DDB1- and CUL4-associated factor 6; Ligand-dependent coactivator of nuclear receptors. Enhance transcriptional activity of the nuclear receptors NR3C1 and AR. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex (By similarity).


ensembl_gene_id: ENSPPYP00000000640
symbol: ADCY10
gene_biotype: protein_coding
description:
  Adenylate cyclase type 10; Catalyzes the formation of the signaling molecule cAMP. May function as sensor that mediates responses to changes in cellular bicarbonate and CO(2) levels. Has a critical role in mammalian spermatogenesis by producing the cAMP which regulates cAMP-responsive nuclear factors indispensable for sperm maturation in the epididymis. Induces capacitation, the maturational process that sperm undergo prior to fertilization. Involved in ciliary beat regulation. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.


ensembl_gene_id: ENSPPYP00000000647
symbol: CR201_G0044561
gene_biotype: protein_coding
description:
  DUSP27 isoform 1; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPPYP00000000661
symbol: TMCO1
gene_biotype: protein_coding
description:
  Calcium load-activated calcium channel; Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis. In response to endoplasmic reticulum overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store.


ensembl_gene_id: ENSPPYP00000000664
symbol: ALDH9A1
gene_biotype: protein_coding
description:
  4-trimethylaminobutyraldehyde dehydrogenase; Converts gamma-trimethylaminobutyraldehyde into gamma- butyrobetaine with high efficiency (in vitro). Can catalyze the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction, but with low efficiency.


ensembl_gene_id: ENSPPYP00000000669
symbol: RXRG
gene_biotype: protein_coding
description:
  Retinoic acid receptor RXR-gamma; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. The high affinity ligand for RXRs is 9-cis retinoic acid (By similarity).


ensembl_gene_id: ENSPPYP00000000674
symbol: RGS4
gene_biotype: protein_coding
description:
  Regulator of G-protein signaling 4; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Activity on G(z)-alpha is inhibited by phosphorylation of the G-protein. Activity on G(z)-alpha and G(i)- alpha-1 is inhibited by palmitoylation of the G-protein (By similarity).


ensembl_gene_id: ENSPPYP00000000680
symbol: UHMK1
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase Kist; Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved in trafficking and/or processing of RNA (By similarity).


ensembl_gene_id: ENSPPYP00000000708
symbol: ADAMTS4
gene_biotype: protein_coding
description:
  A disintegrin and metalloproteinase with thrombospondin motifs 4; Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover. May play an important role in the destruction of aggrecan in arthritic diseases. Cleaves aggrecan at the '392-Glu-|- Ala-393' site.


ensembl_gene_id: ENSPPYP00000000709
symbol: B4GALT3
gene_biotype: protein_coding
description:
  Beta-1,4-galactosyltransferase 3; Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids; Belongs to the glycosyltransferase 7 family.


ensembl_gene_id: ENSPPYP00000000710
symbol: PPOX
gene_biotype: protein_coding
description:
  Protoporphyrinogen oxidase; Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX.


ensembl_gene_id: ENSPPYP00000000711
symbol: USP21
gene_biotype: protein_coding
description:
  Ubiquitin carboxyl-terminal hydrolase; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes. Belongs to the peptidase C19 family.


ensembl_gene_id: ENSPPYP00000000712
symbol: UFC1
gene_biotype: protein_coding
description:
  Ubiquitin-fold modifier-conjugating enzyme 1; E2-like enzyme which forms an intermediate with UFM1 via a thioester linkage.


ensembl_gene_id: ENSPPYP00000000739
symbol: COPA
gene_biotype: protein_coding
description:
  Coatomer subunit alpha; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network.


ensembl_gene_id: ENSPPYP00000000743
symbol: PEX19
gene_biotype: protein_coding
description:
  Peroxisomal biogenesis factor 19; Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.


ensembl_gene_id: ENSPPYP00000000744
symbol: DCAF8
gene_biotype: protein_coding
description:
  DDB1- and CUL4-associated factor 8; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; Belongs to the WD repeat DCAF8 family.


ensembl_gene_id: ENSPPYP00000000745
symbol: PEA15
gene_biotype: protein_coding
description:
  Astrocytic phosphoprotein PEA-15; Blocks Ras-mediated inhibition of integrin activation and modulates the ERK MAP kinase cascade. Inhibits RPS6KA3 activities by retaining it in the cytoplasm. Inhibits both TNFRSF6- and TNFRSF1A- mediated CASP8 activity and apoptosis. Regulates glucose transport by controlling both the content of SLC2A1 glucose transporters on the plasma membrane and the insulin-dependent trafficking of SLC2A4 from the cell interior to the surface (By similarity).


ensembl_gene_id: ENSPPYP00000000747
symbol: CASQ1
gene_biotype: protein_coding
description:
  Calsequestrin; Calsequestrin is a high-capacity, moderate affinity, calcium- binding protein and thus acts as an internal calcium store in muscle.


ensembl_gene_id: ENSPPYP00000000749
symbol: ATP1A2
gene_biotype: protein_coding
description:
  Sodium/potassium-transporting ATPase subunit alpha-2; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients (By similarity). Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.


ensembl_gene_id: ENSPPYP00000000753
symbol: PIGM
gene_biotype: protein_coding
description:
  GPI mannosyltransferase 1; Mannosyltransferase involved in glycosylphosphatidylinositol- anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN- acyl-PI during GPI precursor assembly (By similarity).


ensembl_gene_id: ENSPPYP00000000774
symbol: IFI16
gene_biotype: protein_coding
description:
  Gamma-interferon-inducible protein 16; Binds double-stranded DNA. Binds preferentially to supercoiled DNA and cruciform DNA structures. Seems to be involved in transcriptional regulation. May function as a transcriptional repressor. Could have a role in the regulation of hematopoietic differentiation through activation of unknown target genes. Controls cellular proliferation by modulating the functions of cell cycle regulatory factors including p53/TP53 and the retinoblastoma protein. May be involved in TP53-mediated transcriptional activation by enhancing TP53 sequence-specific DNA bi [...]


ensembl_gene_id: ENSPPYP00000000818
symbol: CRABP2
gene_biotype: protein_coding
description:
  Cellular retinoic acid binding protein 2; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPPYP00000000824
symbol: NAXE
gene_biotype: protein_coding
description:
  NAD(P)H-hydrate epimerase; Catalyzes the epimerization of the S- and R-forms of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. This is a prerequisite for the S-specific NAD(P)H-hydrate dehydratase to allow the repair of both epimers of NAD(P)HX.


ensembl_gene_id: ENSPPYP00000000842
symbol: SLC25A44
gene_biotype: protein_coding
description:
  Solute carrier family 25 member 44; Mitochondrial solute transporter which transports branched- chain amino acid (BCAA; valine, leucine and isoleucine) into mitochondria in brown adipose tissue (BAT). BAT is involved in BCAA catabolism and actively utilizes BCAA in the mitochondria for thermogenesis; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPPYP00000000850
symbol: CR201_G0019176
gene_biotype: protein_coding
description:
  Translocon-associated protein subunit beta; TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.


ensembl_gene_id: ENSPPYP00000000872
symbol: GBA
gene_biotype: protein_coding
description:
  Lysosomal acid glucosylceramidase; Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose. Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes. Through the production of ceramides, participates to the PKC-activated salvage pathway of ceramide formation. Also plays a role in cholesterol metabolism. May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol. [...]


ensembl_gene_id: ENSPPYP00000000878
symbol: DPM3
gene_biotype: protein_coding
description:
  Dolichol-phosphate mannosyltransferase subunit 3; Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the ER. Belongs to the DPM3 family.


ensembl_gene_id: ENSPPYP00000000879
symbol: SLC50A1
gene_biotype: protein_coding
description:
  Sugar transporter SWEET; Mediates sugar transport across membranes. Belongs to the SWEET sugar transporter family.


ensembl_gene_id: ENSPPYP00000000889
symbol: FLAD1
gene_biotype: protein_coding
description:
  Molybdenum cofactor biosynthesis protein-like region; Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme; In the N-terminal section; belongs to the MoaB/Mog family.


ensembl_gene_id: ENSPPYP00000000892
symbol: CKS1B
gene_biotype: protein_coding
description:
  Cyclin-dependent kinases regulatory subunit; Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function.


ensembl_gene_id: ENSPPYP00000000893
symbol: SHC1
gene_biotype: protein_coding
description:
  SHC-transforming protein 1; Signaling adapter that couples activated growth factor receptors to signaling pathways. Participates in a signaling cascade initiated by activated KIT and KITLG/SCF. Participates in signaling downstream of the angiopoietin receptor TEK/TIE2, and plays a role in the regulation of endothelial cell migration and sprouting angiogenesis (By similarity).


ensembl_gene_id: ENSPPYP00000000911
symbol: HAX1
gene_biotype: protein_coding
description:
  HCLS1-associated protein X-1; Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex. Slows down the rate of inactivation of KCNC3 channels. Promotes GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. Promotes cell survival. May regulate intracellular calcium pools.


ensembl_gene_id: ENSPPYP00000000924
symbol: RPS27
gene_biotype: protein_coding
description:
  40S ribosomal protein S27; Component of the small ribosomal subunit (By similarity). Required for proper rRNA processing and maturation of 18S rRNAs (By similarity).


ensembl_gene_id: ENSPPYP00000000932
symbol: INTS3
gene_biotype: protein_coding
description:
  Integrator complex subunit 3; Component of the Integrator (INT) complex. The Integrator complex is involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex.


ensembl_gene_id: ENSPPYP00000000934
symbol: ILF2
gene_biotype: protein_coding
description:
  Interleukin enhancer-binding factor 2; Appears to function predominantly as a heterodimeric complex with ILF3. This complex may regulate transcription of the IL2 gene during T-cell activation. It can also promote the formation of stable DNA-dependent protein kinase holoenzyme complexes on DNA (By similarity). Essential for the efficient reshuttling of ILF3 into the nucleus (By similarity).


ensembl_gene_id: ENSPPYP00000000936
symbol: SNAPIN
gene_biotype: protein_coding
description:
  SNARE-associated protein Snapin; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking and synaptic vesicle recycling; Belongs to t [...]


ensembl_gene_id: ENSPPYP00000000938
symbol: S100A1
gene_biotype: protein_coding
description:
  Protein S100-A1; Probably acts as a Ca(2+) signal transducer. In response to an increase in intracellular Ca(2+) levels, binds calcium which triggers a conformational change. This conformational change allows interaction of S1001A with specific target proteins, such as TPR- containing proteins, and the modulation of their activity. Belongs to the S-100 family.


ensembl_gene_id: ENSPPYP00000000995
symbol: RORC
gene_biotype: protein_coding
description:
  Nuclear receptor ROR-gamma; Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulator of cellular differentiation, immunity, peripheral circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism. Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respective [...]


ensembl_gene_id: ENSPPYP00000001013
symbol: SELENBP1
gene_biotype: protein_coding
description:
  Methanethiol oxidase; Catalyzes the oxidation of methanethiol, an organosulfur compound known to be produced in substantial amounts by gut bacteria (By similarity). Selenium-binding protein which may be involved in the sensing of reactive xenobiotics in the cytoplasm. May be involved in intra-Golgi protein transport (By similarity).


ensembl_gene_id: ENSPPYP00000001020
symbol: VPS72
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 72 homolog; Deposition-and-exchange histone chaperone specific for H2AZ1, specifically chaperones H2AZ1 and deposits it into nucleosomes. As component of the SRCAP complex, mediates the ATP-dependent exchange of histone H2AZ1/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling.


ensembl_gene_id: ENSPPYP00000001028
symbol: CDC42SE1
gene_biotype: protein_coding
description:
  CDC42 small effector protein 1; Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T- cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages (By similarity); Belongs to the CDC42SE/SPEC family.


ensembl_gene_id: ENSPPYP00000001032
symbol: MINDY1
gene_biotype: protein_coding
description:
  Ubiquitin carboxyl-terminal hydrolase MINDY-1; Hydrolase that can specifically remove 'Lys-48'-linked conjugated ubiquitin from proteins. Has exodeubiquitinase activity and has a preference for long polyubiquitin chains. May play a regulatory role at the level of protein turnover; Belongs to the MINDY deubiquitinase family. FAM63 subfamily.


ensembl_gene_id: ENSPPYP00000001054
symbol: PRPF3
gene_biotype: protein_coding
description:
  U4/U6 small nuclear ribonucleoprotein Prp3; Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex).


ensembl_gene_id: ENSPPYP00000001066
symbol: SV2A
gene_biotype: protein_coding
description:
  Synaptic vesicle glycoprotein 2A; Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity).


ensembl_gene_id: ENSPPYP00000001068
symbol: BOLA1
gene_biotype: protein_coding
description:
  BolA-like protein 1; Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins (By similarity). Probably acts together with the monothiol glutaredoxin GLRX5. May protect cells against oxidative stress (By similarity).


ensembl_gene_id: ENSPPYP00000001075
symbol: LOC100431299
gene_biotype: protein_coding
description:
  Histone H4; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (By similarity).


ensembl_gene_id: ENSPPYP00000001077
symbol: LOC100452142
gene_biotype: protein_coding
description:
  Peptidyl-prolyl cis-trans isomerase; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides; Belongs to the cyclophilin-type PPIase family.


ensembl_gene_id: ENSPPYP00000001080
symbol: TXNIP
gene_biotype: protein_coding
description:
  Thioredoxin-interacting protein; May act as an oxidative stress mediator by inhibiting thioredoxin activity or by limiting its bioavailability. Interacts with COPS5 and restores COPS5-induced suppression of CDKN1B stability, blocking the COPS5-mediated translocation of CDKN1B from the nucleus to the cytoplasm. Inhibits the proteasomal degradation of DDIT4, and thereby contributes to the inhibition of the mammalian target of rapamycin complex 1 (mTORC1) (By similarity). Functions as a transcriptional repressor, possibly by acting as a bridge molecule between transcription factors and co [...]


ensembl_gene_id: ENSPPYP00000001082
symbol: RBM8A
gene_biotype: protein_coding
description:
  RNA-binding protein 8A; Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs.


ensembl_gene_id: ENSPPYP00000001084
symbol: PEX11B
gene_biotype: protein_coding
description:
  Peroxisomal membrane protein 11B; Involved in peroxisomal proliferation. May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane. Promotes membrane protrusion and elongation on the peroxisomal surface.


ensembl_gene_id: ENSPPYP00000001089
symbol: POLR3C
gene_biotype: protein_coding
description:
  RNA polymerase III subunit C3; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.


ensembl_gene_id: ENSPPYP00000001092
symbol: PDZK1
gene_biotype: protein_coding
description:
  Na(+)/H(+) exchange regulatory cofactor NHE-RF3; A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resista [...]


ensembl_gene_id: ENSPPYP00000001102
symbol: ACP6
gene_biotype: protein_coding
description:
  Lysophosphatidic acid phosphatase type 6; Hydrolyzes lysophosphatidic acid (LPA) containing a medium length fatty acid chain to the corresponding monoacylglycerol. Has highest activity with lysophosphatidic acid containing myristate (C14:0), monounsaturated oleate (C18:1) or palmitate (C16:0), and lower activity with C18:0 and C6:0 lysophosphatidic acid.


ensembl_gene_id: ENSPPYP00000001115
symbol: SEC22B
gene_biotype: protein_coding
description:
  Vesicle-trafficking protein SEC22b; SNARE involved in targeting and fusion of ER-derived transport vesicles with the Golgi complex as well as Golgi-derived retrograde transport vesicles with the ER.


ensembl_gene_id: ENSPPYP00000001119
symbol: HMGCS2
gene_biotype: protein_coding
description:
  3-hydroxy-3-methylglutaryl coenzyme A synthase; This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase.


ensembl_gene_id: ENSPPYP00000001120
symbol: PHGDH
gene_biotype: protein_coding
description:
  D-3-phosphoglycerate dehydrogenase; Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L- serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.


ensembl_gene_id: ENSPPYP00000001126
symbol: WARS2
gene_biotype: protein_coding
description:
  Tryptophanyl tRNA synthetase 2, mitochondrial; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSPPYP00000001152
symbol: CASQ2
gene_biotype: protein_coding
description:
  Calsequestrin-2; Calsequestrin is a high-capacity, moderate affinity, calcium- binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, especially at the interface between subunits. Can bind around 60 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR2; this plays an important role in triggering muscle contraction. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats.


ensembl_gene_id: ENSPPYP00000001160
symbol: SIKE1
gene_biotype: protein_coding
description:
  Suppressor of IKBKE 1; Physiological suppressor of IKK-epsilon and TBK1 that plays an inhibitory role in virus- and TLR3-triggered IRF3. Inhibits TLR3- mediated activation of interferon-stimulated response elements (ISRE) and the IFN-beta promoter. May act by disrupting the interactions of IKBKE or TBK1 with TICAM1/TRIF, IRF3 and DDX58/RIG-I. Does not inhibit NF-kappa-B activation pathways (By similarity).


ensembl_gene_id: ENSPPYP00000001163
symbol: NRAS
gene_biotype: protein_coding
description:
  GTPase NRas; Ras proteins bind GDP/GTP and possess intrinsic GTPase activity; Belongs to the small GTPase superfamily. Ras family.


ensembl_gene_id: ENSPPYP00000001164
symbol: AMPD1
gene_biotype: protein_coding
description:
  AMP deaminase; Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.


ensembl_gene_id: ENSPPYP00000001168
symbol: BCAS2
gene_biotype: protein_coding
description:
  Pre-mRNA-splicing factor SPF27; Required for pre-mRNA splicing as component of the activated spliceosome. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre- mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. The PRP19- CDC5L complex may also play a role in the response to DNA damage (DDR).


ensembl_gene_id: ENSPPYP00000001186
symbol: RHOC
gene_biotype: protein_coding
description:
  Rho-related GTP-binding protein RhoC; Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Regulates apical junction formation in bronchial epithelial cells (By similarity).


ensembl_gene_id: ENSPPYP00000001189
symbol: CAPZA1
gene_biotype: protein_coding
description:
  F-actin-capping protein subunit alpha-1; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the formation of epithelial cell junctions.


ensembl_gene_id: ENSPPYP00000001201
symbol: ATP5PB
gene_biotype: protein_coding
description:
  ATP synthase F(0) complex subunit B1, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechani [...]


ensembl_gene_id: ENSPPYP00000001202
symbol: WDR77
gene_biotype: protein_coding
description:
  Methylosome protein 50; Non-catalytic component of the methylosome complex, composed of PRMT5, WDR77 and CLNS1A, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins and histones. This modification targets Sm proteins to the survival of motor neurons (SMN) complex for assembly into small nuclear ribonucleoprotein core particles. Might play a role in transcription regulation. The methylosome complex also methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain-contain [...]


ensembl_gene_id: ENSPPYP00000001209
symbol: CEPT1
gene_biotype: protein_coding
description:
  Choline/ethanolamine phosphotransferase 1; Belongs to the CDP-alcohol phosphatidyltransferase class-I family.


ensembl_gene_id: ENSPPYP00000001226
symbol: STRIP1
gene_biotype: protein_coding
description:
  Striatin-interacting protein 1; Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape (By similarity); Belongs to the STRIP family.


ensembl_gene_id: ENSPPYP00000001230
symbol: CSF1
gene_biotype: protein_coding
description:
  Macrophage colony-stimulating factor 1; Cytokine that plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone development. Required for normal male and female  [...]


ensembl_gene_id: ENSPPYP00000001234
symbol: GSTM1
gene_biotype: protein_coding
description:
  Glutathione S-transferase Mu 2; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles; Belongs to the GST superfamily. Mu family.


ensembl_gene_id: ENSPPYP00000001241
symbol: GNAI3
gene_biotype: protein_coding
description:
  Guanine nucleotide-binding protein G(i) subunit alpha-1; Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numer [...]


ensembl_gene_id: ENSPPYP00000001252
symbol: SARS1
gene_biotype: protein_coding
description:
  Serine--tRNA ligase, cytoplasmic; Catalyzes the attachment of serine to tRNA(Ser) in a two-step reaction: serine is first activated by ATP to form Ser-AMP and then transferred to the acceptor end of tRNA(Ser). Is probably also able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L- seryl-tRNA(Sec), which will be further converted into selenocysteinyl- tRNA(Sec). In the nucleus, binds to the VEGFA core promoter and prevents MYC binding and transcriptional activation by MYC. Recruits SIRT2 to the VEGFA promoter, promoting deacetylation of histone H4 at 'Lys-16' (H4K16 [...]


ensembl_gene_id: ENSPPYP00000001258
symbol: TAF13
gene_biotype: protein_coding
description:
  Transcription initiation factor TFIID subunit 13; Component of the DNA-binding general RNA polymerase II transcription factor IID complex (TFIID). TFIID plays a critical role in the regulation of gene transcription in eukaryotic cells (By similarity); Belongs to the TAF13 family.


ensembl_gene_id: ENSPPYP00000001281
symbol: RNPC3
gene_biotype: protein_coding
description:
  RNA-binding region-containing protein 3; Participates in pre-mRNA U12-dependent splicing, performed by the minor spliceosome which removes U12-type introns. U12-type introns comprises less than 1% of all non-coding sequences. Binds to the 3'- stem-loop of m(7)G-capped U12 snRNA (By similarity).


ensembl_gene_id: ENSPPYP00000001293
symbol: RTCA
gene_biotype: protein_coding
description:
  RNA 3'-terminal phosphate cyclase; Catalyzes the conversion of 3'-phosphate to a 2',3'-cyclic phosphodiester at the end of RNA. The mechanism of action of the enzyme occurs in 3 steps: (A) adenylation of the enzyme by ATP; (B) transfer of adenylate to an RNA-N3'P to produce RNA-N3'PP5'A; (C) and attack of the adjacent 2'-hydroxyl on the 3'-phosphorus in the diester linkage to produce the cyclic end product. The biological role of this enzyme is unknown but it is likely to function in some aspects of cellular RNA processing (By similarity); Belongs to the RNA 3'-terminal cyclase family. [...]


ensembl_gene_id: ENSPPYP00000001308
symbol: DPYD
gene_biotype: protein_coding
description:
  Dihydropyrimidine dehydrogenase [NADP(+)]; Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine (By similarity).


ensembl_gene_id: ENSPPYP00000001313
symbol: RWDD3
gene_biotype: protein_coding
description:
  RWD domain-containing protein 3; Enhancer of SUMO conjugation. Via its interaction with UBE2I/UBC9, increases SUMO conjugation to proteins by promoting the: binding of E1 and E2 enzymes, thioester linkage between SUMO and UBE2I/UBC9 and transfer of SUMO to specific target proteins which include HIF1A, PIAS, NFKBIA, NR3C1 and TOP1. Positively regulates the NF-kappa-B signaling pathway by enhancing the sumoylation of NF-kappa-B inhibitor alpha (NFKBIA), promoting its stabilization which consequently leads to an increased inhibition of NF-kappa-B transcriptional activity. Negatively regul [...]


ensembl_gene_id: ENSPPYP00000001316
symbol: CNN3
gene_biotype: protein_coding
description:
  Calponin; Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity.


ensembl_gene_id: ENSPPYP00000001318
symbol: F3
gene_biotype: protein_coding
description:
  Tissue factor; Initiates blood coagulation by forming a complex with circulating factor VII or VIIa. The [TF:VIIa] complex activates factors IX or X by specific limited proteolysis. TF plays a role in normal hemostasis by initiating the cell-surface assembly and propagation of the coagulation protease cascade.


ensembl_gene_id: ENSPPYP00000001331
symbol: TMED5
gene_biotype: protein_coding
description:
  Transmembrane emp24 domain-containing protein 5; Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Required for the maintenance of the Golgi apparatus; involved in protein exchange between Golgi stacks during assembly. Probably not required for COPI-vesicle-mediated retrograde transport (By similarity).


ensembl_gene_id: ENSPPYP00000001332
symbol: MTF2
gene_biotype: protein_coding
description:
  Metal-response element-binding transcription factor 2; Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex, leading to enhance PRC2 H3K27me3 methylation activity. Regulates the transcriptional networks during embryonic stem cell self-renewal and differentiation. Promotes recruitment of the PRC2 complex to the inactive X chromosome in differentiating XX ES cells and PRC2 recruitment to target genes in undifferentiated [...]


ensembl_gene_id: ENSPPYP00000001338
symbol: RPAP2
gene_biotype: protein_coding
description:
  Putative RNA polymerase II subunit B1 CTD phosphatase RPAP2; Protein phosphatase that displays CTD phosphatase activity and regulates transcription of snRNA genes. Recognizes and binds phosphorylated 'Ser-7' of the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and mediates dephosphorylation of 'Ser-5' of the CTD, thereby promoting transcription of snRNA genes.


ensembl_gene_id: ENSPPYP00000001350
symbol: ZNF326
gene_biotype: protein_coding
description:
  DBIRD complex subunit ZNF326; Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex affects local transcript elongation rates and alternative splicing of a large set of exons embedded in (A + T)-rich DNA regions. May play a role in neuronal differentiation and is able to bind DNA and activate expression in vitro (By similarity).


ensembl_gene_id: ENSPPYP00000001360
symbol: GBP1
gene_biotype: protein_coding
description:
  Guanylate-binding protein 1; Hydrolyzes GTP to GMP in 2 consecutive cleavage reactions. Exhibits antiviral activity against influenza virus. Promotes oxidative killing and delivers antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes (By similarity).


ensembl_gene_id: ENSPPYP00000001365
symbol: GTF2B
gene_biotype: protein_coding
description:
  Transcription initiation factor IIB; General transcription factor that plays a role in transcription initiation by RNA polymerase II (Pol II). Involved in the pre-initiation complex (PIC) formation and Pol II recruitment at promoter DNA. Together with the TATA box-bound TBP forms the core initiation complex and provides a bridge between TBP and the Pol II- TFIIF complex. Released from the PIC early following the onset of transcription during the initiation and elongation transition and reassociates with TBP during the next transcription cycle. Associates with chromatin to core promoter [...]


ensembl_gene_id: ENSPPYP00000001370
symbol: HS2ST1
gene_biotype: protein_coding
description:
  Heparan sulfate 2-O-sulfotransferase 1; Catalyzes the transfer of sulfate to the C2-position of selected hexuronic acid residues within the maturing heparan sulfate (HS). 2-O-sulfation within HS, particularly of iduronate residues, is essential for HS to participate in a variety of high-affinity ligand- binding interactions and signaling processes. Mediates 2-O-sulfation of both L-iduronyl and D-glucuronyl residues (By similarity). Belongs to the sulfotransferase 3 family.


ensembl_gene_id: ENSPPYP00000001374
symbol: SH3GLB1
gene_biotype: protein_coding
description:
  Endophilin-B1; May be required for normal outer mitochondrial membrane dynamics. Required for coatomer-mediated retrograde transport in certain cells. May recruit other proteins to membranes with high curvature. May promote membrane fusion. Involved in activation of caspase-dependent apoptosis by promoting BAX/BAK1 activation. Involved in caspase-independent apoptosis during nutrition starvation and involved in the regulation of autophagy. Activates lipid kinase activity of PIK3C3 during autophagy probably by associating with the PI3K complex II (PI3KC3-C2). Associated with PI3KC3-C2 d [...]


ensembl_gene_id: ENSPPYP00000001381
symbol: ZNHIT6
gene_biotype: protein_coding
description:
  Box C/D snoRNA protein 1; Required for box C/D snoRNAs accumulation involved in snoRNA processing, snoRNA transport to the nucleolus and ribosome biogenesis. Belongs to the BCD1 family.


ensembl_gene_id: ENSPPYP00000001395
symbol: GNG5
gene_biotype: protein_coding
description:
  Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.


ensembl_gene_id: ENSPPYP00000001411
symbol: DNAJB4
gene_biotype: protein_coding
description:
  DnaJ homolog subfamily B member 4; Probable chaperone. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro).


ensembl_gene_id: ENSPPYP00000001418
symbol: USP33
gene_biotype: protein_coding
description:
  Ubiquitin carboxyl-terminal hydrolase 33; Deubiquitinating enzyme involved in various processes such as centrosome duplication, cellular migration and beta-2 adrenergic receptor/ADRB2 recycling. Involved in regulation of centrosome duplication by mediating deubiquitination of CCP110 in S and G2/M phase, leading to stabilize CCP110 during the period which centrioles duplicate and elongate. Involved in cell migration via its interaction with intracellular domain of ROBO1, leading to regulate the Slit signaling. Plays a role in commissural axon guidance cross the ventral midline of the ne [...]


ensembl_gene_id: ENSPPYP00000001424
symbol: PIGK
gene_biotype: protein_coding
description:
  GPI-anchor transamidase; Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein (By similarity).


ensembl_gene_id: ENSPPYP00000001426
symbol: ST6GALNAC3
gene_biotype: protein_coding
description:
  ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSPPYP00000001430
symbol: RABGGTB
gene_biotype: protein_coding
description:
  Geranylgeranyl transferase type-2 subunit beta; Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of proteins with the C- terminal sequence -XXCC, -XCXC and -CCXX.


ensembl_gene_id: ENSPPYP00000001435
symbol: TYW3
gene_biotype: protein_coding
description:
  tRNA wybutosine-synthesizing protein 3 homolog; Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA (By similarity).


ensembl_gene_id: ENSPPYP00000001437
symbol: CRYZ
gene_biotype: protein_coding
description:
  Quinone oxidoreductase; Does not have alcohol dehydrogenase activity. Binds NADP and acts through a one-electron transfer process. Orthoquinones, such as 1,2-naphthoquinone or 9,10-phenanthrenequinone, are the best substrates (in vitro). May act in the detoxification of xenobiotics. Interacts with (AU)-rich elements (ARE) in the 3'-UTR of target mRNA species and enhances their stability. NADPH binding interferes with mRNA binding (By similarity).


ensembl_gene_id: ENSPPYP00000001443
symbol: NEGR1
gene_biotype: protein_coding
description:
  Neuronal growth regulator 1; May be involved in cell-adhesion. May function as a trans- neural growth-promoting factor in regenerative axon sprouting in the mammalian brain (By similarity); Belongs to the immunoglobulin superfamily. IgLON family.


ensembl_gene_id: ENSPPYP00000001445
symbol: ZRANB2
gene_biotype: protein_coding
description:
  Zinc finger Ran-binding domain-containing protein 2; Splice factor required for alternative splicing of TRA2B/SFRS10 transcripts. May interfere with constitutive 5'-splice site selection (By similarity).


ensembl_gene_id: ENSPPYP00000001456
symbol: WLS
gene_biotype: protein_coding
description:
  Protein wntless homolog; Regulates Wnt proteins sorting and secretion in a feedback regulatory mechanism. This reciprocal interaction plays a key role in the regulation of expression, subcellular location, binding and organelle-specific association of Wnt proteins. Plays also an important role in establishment of the anterior-posterior body axis formation during development (By similarity).


ensembl_gene_id: ENSPPYP00000001459
symbol: GNG12
gene_biotype: protein_coding
description:
  Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.


ensembl_gene_id: ENSPPYP00000001467
symbol: SLC35D1
gene_biotype: protein_coding
description:
  UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter; Antiporter transporting nucleotide sugars such as UDP-N- acetylglucosamine (UDP-GlcNAc), UDP-glucose (UDP-Glc) and GDP-mannose (GDP-Man) pooled in the cytosol into the lumen of the Golgi in exchange for the corresponding nucleosides monophosphates (UMP for UDP-sugars and GMP for GDP-sugars). May take part in heparan sulfate synthesis by supplying UDP-Glc-NAc, the donor substrate, and thus be involved in growth factor signaling (By similarity); Belongs to the TPT transporter family. SLC35D subfamily.


ensembl_gene_id: ENSPPYP00000001469
symbol: MIER1
gene_biotype: protein_coding
description:
  Mesoderm induction early response protein 1; Transcriptional repressor regulating the expression of a number of genes including SP1 target genes. Probably functions through recruitment of HDAC1 a histone deacetylase involved in chromatin silencing (By similarity).


ensembl_gene_id: ENSPPYP00000001475
symbol: SGIP1
gene_biotype: protein_coding
description:
  SH3-containing GRB2-like protein 3-interacting protein 1; May function in clathrin-mediated endocytosis. Has both a membrane binding/tubulating activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a preference for membranes enriched in phosphatidylserine and phosphoinositides and is required for the endocytosis of the transferrin receptor. May also bind tubulin. May play a role in the regulation of energy homeostasis.


ensembl_gene_id: ENSPPYP00000001480
symbol: AK4
gene_biotype: protein_coding
description:
  Adenylate kinase 4, mitochondrial; Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates (By similarity). Efficiently phosphorylates AMP and dAMP using ATP as phosphate donor, but phosphorylates only AMP when using GTP as phosphate donor (By similarity). Also displays broad nucleoside diphosphate kinase activity (By similarity). Plays a role in controlling cellular ATP levels by regulating phosphorylation and activation of the energy sensor protein kinase AMPK (By similarity). Plays a protective role in the cellular r [...]


ensembl_gene_id: ENSPPYP00000001486
symbol: ROR1
gene_biotype: protein_coding
description:
  Receptor tyrosine kinase like orphan receptor 1; Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily.


ensembl_gene_id: ENSPPYP00000001488
symbol: ITGB3BP
gene_biotype: protein_coding
description:
  Centromere protein R; Transcription coregulator that can have both coactivator and corepressor functions.


ensembl_gene_id: ENSPPYP00000001490
symbol: ALG6
gene_biotype: protein_coding
description:
  Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase; Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol (By similarity); Belongs to the ALG6/ALG8 glucosyltransferase family.


ensembl_gene_id: ENSPPYP00000001492
symbol: ATG4C
gene_biotype: protein_coding
description:
  Cysteine protease; Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy; Belongs to the peptidase C54 family.


ensembl_gene_id: ENSPPYP00000001505
symbol: NFIA
gene_biotype: protein_coding
description:
  Nuclear factor 1; Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.


ensembl_gene_id: ENSPPYP00000001519
symbol: PRKAA2
gene_biotype: protein_coding
description:
  5'-AMP-activated protein kinase catalytic subunit alpha-2; Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts a [...]


ensembl_gene_id: ENSPPYP00000001540
symbol: TMEM59
gene_biotype: protein_coding
description:
  Transmembrane protein 59; Acts as a regulator of autophagy in response to S.aureus infection by promoting activation of LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C). Acts by interacting with ATG16L1, leading to promote a functional complex between LC3 and ATG16L1 and promoting LC3 lipidation and subsequent activation of autophagy. Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of several proteins such as APP, BACE1, SEAP or PRNP. Inhibits APP transport to the cell surface and further shedding.


ensembl_gene_id: ENSPPYP00000001548
symbol: NDC1
gene_biotype: protein_coding
description:
  Nucleoporin NDC1; Component of the nuclear pore complex (NPC), which plays a key role in de novo assembly and insertion of NPC in the nuclear envelope. Required for NPC and nuclear envelope assembly, possibly by forming a link between the nuclear envelope membrane and soluble nucleoporins, thereby anchoring the NPC in the membrane (By similarity); Belongs to the NDC1 family.


ensembl_gene_id: ENSPPYP00000001568
symbol: ORC1
gene_biotype: protein_coding
description:
  Origin recognition complex subunit 1; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent, however specific DNA sequences that define origins of replication have not been identified so far. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication.


ensembl_gene_id: ENSPPYP00000001599
symbol: CMPK1
gene_biotype: protein_coding
description:
  UMP-CMP kinase; Catalyzes the phosphorylation of pyrimidine nucleoside monophosphates at the expense of ATP. Plays an important role in de novo pyrimidine nucleotide biosynthesis. Has preference for UMP and CMP as phosphate acceptors. Also displays broad nucleoside diphosphate kinase activity; Belongs to the adenylate kinase family. UMP-CMP kinase subfamily.


ensembl_gene_id: ENSPPYP00000001618
symbol: NSUN4
gene_biotype: protein_coding
description:
  NOP2/Sun RNA methyltransferase 4; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPPYP00000001619
symbol: LRRC41
gene_biotype: protein_coding
description:
  Leucine-rich repeat-containing protein 41; Probable substrate recognition component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.


ensembl_gene_id: ENSPPYP00000001624
symbol: POMGNT1
gene_biotype: protein_coding
description:
  Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1; Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins. Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties. Is specific for alpha linked terminal mannose.


ensembl_gene_id: ENSPPYP00000001636
symbol: AKR1A1
gene_biotype: protein_coding
description:
  Aldo-keto reductase family 1 member A1; Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols. Displays enzymatic activity towards endogenous metabolites such as aromatic and aliphatic aldehydes, ketones, monosaccharides and bile acids, with a preference for negatively charged substrates, such as glucuronate and succinic semialdehyde (By similarity). Functions as a detoxifiying enzyme by reducing a range of toxic aldehydes. Reduces methylglyoxal and 3-deoxyglucosone, which are present at elevated levels under hypergly [...]


ensembl_gene_id: ENSPPYP00000001640
symbol: TOE1
gene_biotype: protein_coding
description:
  Target of EGR1 protein 1; Inhibits cell growth rate and cell cycle. Induces CDKN1A expression as well as TGF-beta expression. Mediates the inhibitory growth effect of EGR1. Involved in the maturation of snRNAs and snRNA 3'-tail processing.


ensembl_gene_id: ENSPPYP00000001644
symbol: UROD
gene_biotype: protein_coding
description:
  Uroporphyrinogen decarboxylase; Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.


ensembl_gene_id: ENSPPYP00000001650
symbol: BEST4
gene_biotype: protein_coding
description:
  Bestrophin; Forms calcium-sensitive chloride channels. Permeable to bicarbonate; Belongs to the bestrophin family.


ensembl_gene_id: ENSPPYP00000001652
symbol: KIF2C
gene_biotype: protein_coding
description:
  Kinesin-like protein; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPPYP00000001667
symbol: DPH2
gene_biotype: protein_coding
description:
  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2; Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2); Belongs to the DPH1/DPH2 family. DPH2 subfamily.


ensembl_gene_id: ENSPPYP00000001670
symbol: KDM4A
gene_biotype: protein_coding
description:
  Lysine-specific demethylase 4A; Histone demethylase that specifically demethylates 'Lys-9' and 'Lys-36' residues of histone H3, thereby playing a central role in histone code (By similarity). Does not demethylate histone H3 'Lys-4', H3 'Lys-27' nor H4 'Lys-20'. Demethylates trimethylated H3 'Lys-9' and H3 'Lys-36' residue, while it has no activity on mono- and dimethylated residues. Demethylation of Lys residue generates formaldehyde and succinate. Participates in transcriptional repression of ASCL2 and E2F- responsive promoters via the recruitment of histone deacetylases and NCOR1, re [...]


ensembl_gene_id: ENSPPYP00000001674
symbol: HYI
gene_biotype: protein_coding
description:
  Putative hydroxypyruvate isomerase; Catalyzes the reversible isomerization between hydroxypyruvate and 2-hydroxy-3-oxopropanoate (also termed tartronate semialdehyde); Belongs to the hyi family.


ensembl_gene_id: ENSPPYP00000001677
symbol: ELOVL1
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 1; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated C18 to C26 acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate to the production of both saturated and monounsaturated VLCFAs of different chain lengths that  [...]


ensembl_gene_id: ENSPPYP00000001688
symbol: SLC2A1
gene_biotype: protein_coding
description:
  SLC2A1 isoform 1; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPPYP00000001697
symbol: CLDN19
gene_biotype: protein_coding
description:
  Claudin; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity; Belongs to the claudin family.


ensembl_gene_id: ENSPPYP00000001712
symbol: CTPS1
gene_biotype: protein_coding
description:
  CTP synthase; Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen.


ensembl_gene_id: ENSPPYP00000001715
symbol: NFYC
gene_biotype: protein_coding
description:
  Nuclear transcription factor Y subunit gamma; Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5'-CCAAT-3' box motif found in the promoters of its target genes. NF-Y can function as both an activator and a repressor, depending on its interacting cofactors.


ensembl_gene_id: ENSPPYP00000001724
symbol: CR201_G0015558
gene_biotype: protein_coding
description:
  CAAX prenyl protease; Proteolytically removes the C-terminal three residues of farnesylated proteins; Belongs to the peptidase M48A family.


ensembl_gene_id: ENSPPYP00000001729
symbol: CAP1
gene_biotype: protein_coding
description:
  Adenylyl cyclase-associated protein 1; Directly regulates filament dynamics and has been implicated in a number of complex developmental and morphological processes, including mRNA localization and the establishment of cell polarity.


ensembl_gene_id: ENSPPYP00000001732
symbol: TRIT1
gene_biotype: protein_coding
description:
  tRNA dimethylallyltransferase; Catalyzes the transfer of a dimethylallyl group onto the adenine at position 37; Belongs to the IPP transferase family.


ensembl_gene_id: ENSPPYP00000001735
symbol: PPIE
gene_biotype: protein_coding
description:
  Peptidyl-prolyl cis-trans isomerase E; Involved in pre-mRNA splicing as component of the spliceosome. Combines RNA-binding and PPIase activities. Binds mRNA and has a preference for single-stranded RNA molecules with poly-A and poly-U stretches, suggesting it binds to the poly(A)-region in the 3'- UTR of mRNA molecules. Catalyzes the cis-trans isomerization of proline imidic peptide bonds in proteins. Inhibits KMT2A activity; this requires proline isomerase activity.


ensembl_gene_id: ENSPPYP00000001737
symbol: HPCAL4
gene_biotype: protein_coding
description:
  Hippocalcin-like protein 4; May be involved in the calcium-dependent regulation of rhodopsin phosphorylation; Belongs to the recoverin family.


ensembl_gene_id: ENSPPYP00000001741
symbol: PABPC4
gene_biotype: protein_coding
description:
  Polyadenylate-binding protein; Binds the poly(A) tail of mRNA. Belongs to the polyadenylate-binding protein type-1 family.


ensembl_gene_id: ENSPPYP00000001746
symbol: NDUFS5
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 5; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPPYP00000001748
symbol: RHBDL2
gene_biotype: protein_coding
description:
  Rhomboid-related protein 2; Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors; Belongs to the peptidase S54 family.


ensembl_gene_id: ENSPPYP00000001751
symbol: MYCBP
gene_biotype: protein_coding
description:
  c-Myc-binding protein; May control the transcriptional activity of MYC. Stimulates the activation of E box-dependent transcription by MYC (By similarity).


ensembl_gene_id: ENSPPYP00000001753
symbol: UTP11
gene_biotype: protein_coding
description:
  U3 small nucleolar RNA-associated protein 11; Involved in nucleolar processing of pre-18S ribosomal RNA.


ensembl_gene_id: ENSPPYP00000001762
symbol: CDCA8
gene_biotype: protein_coding
description:
  Borealin; Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. In the complex, it may be required to direct the CPC to centromeric DNA (By similarity). Belongs to the borealin family.


ensembl_gene_id: ENSPPYP00000001765
symbol: GNL2
gene_biotype: protein_coding
description:
  Nucleolar GTP-binding protein 2; GTPase that associates with pre-60S ribosomal subunits in the nucleolus and is required for their nuclear export and maturation. Belongs to the TRAFAC class YlqF/YawG GTPase family. NOG2 subfamily.


ensembl_gene_id: ENSPPYP00000001776
symbol: STK40
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase 40; May be a negative regulator of NF-kappa-B and p53-mediated gene transcription; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.


ensembl_gene_id: ENSPPYP00000001784
symbol: TRAPPC3
gene_biotype: protein_coding
description:
  Trafficking protein particle complex subunit; May play a role in vesicular transport from endoplasmic reticulum to Golgi.


ensembl_gene_id: ENSPPYP00000001788
symbol: AGO3
gene_biotype: protein_coding
description:
  Protein argonaute-3; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs.


ensembl_gene_id: ENSPPYP00000001790
symbol: AGO4
gene_biotype: protein_coding
description:
  Protein argonaute-4; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs.


ensembl_gene_id: ENSPPYP00000001797
symbol: KIAA0319L
gene_biotype: protein_coding
description:
  Dyslexia-associated protein KIAA0319-like protein; Possible role in axon guidance through interaction with RTN4R.


ensembl_gene_id: ENSPPYP00000001820
symbol: AK2
gene_biotype: protein_coding
description:
  Adenylate kinase 2, mitochondrial; Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis.


ensembl_gene_id: ENSPPYP00000001828
symbol: YARS1
gene_biotype: protein_coding
description:
  Tyrosine--tRNA ligase, cytoplasmic, N-terminally processed; Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two- step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr); Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSPPYP00000001831
symbol: RBBP4
gene_biotype: protein_coding
description:
  Histone-binding protein RBBP4; Core histone-binding subunit that may target chromatin assembly factors, chromatin remodeling factors and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the chromatin assembly factor 1 (CAF-1) complex, which is required for chromatin assembly following DNA replication and DNA repair; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome re [...]


ensembl_gene_id: ENSPPYP00000001838
symbol: HDAC1
gene_biotype: protein_coding
description:
  Histone deacetylase 1; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Deacetylates SP proteins, SP1 and SP3, and regulates their function. Component of the BRG1-RB1-HDAC1 complex, which negatively regulates the CREST-mediated transcription in resting neurons. Upon calcium st [...]


ensembl_gene_id: ENSPPYP00000001842
symbol: EIF3I
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit I; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSPPYP00000001848
symbol: KPNA6
gene_biotype: protein_coding
description:
  Importin subunit alpha-7; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are [...]


ensembl_gene_id: ENSPPYP00000001855
symbol: ADGRB2
gene_biotype: protein_coding
description:
  Adhesion G protein-coupled receptor B2; Orphan G-protein coupled receptor involved in cell adhesion and probably in cell-cell interactions. Activates NFAT-signaling pathway, a transcription factor, via the G-protein GNAZ. Involved in angiogenesis inhibition (By similarity).


ensembl_gene_id: ENSPPYP00000001865
symbol: FABP3
gene_biotype: protein_coding
description:
  Fatty acid binding protein 3; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPPYP00000001868
symbol: SNRNP40
gene_biotype: protein_coding
description:
  U5 small nuclear ribonucleoprotein 40 kDa protein; Required for pre-mRNA splicing as component of the activated spliceosome. Component of the U5 small nuclear ribonucleoprotein (snRNP) complex and the U4/U6-U5 tri-snRNP complex, building blocks of the spliceosome.


ensembl_gene_id: ENSPPYP00000001871
symbol: PUM1
gene_biotype: protein_coding
description:
  Pumilio homolog 1; Sequence-specific RNA-binding protein that acts as a post- transcriptional repressor by binding the 3'-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5'- UGUANAUA-3', that is related to the Nanos Response Element (NRE). Mediates post-transcriptional repression of transcripts via different mechanisms: acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation. Also mediates deadenylation-independent repression by promoting accessibility of miRNAs. Following growth  [...]


ensembl_gene_id: ENSPPYP00000001875
symbol: LAPTM5
gene_biotype: protein_coding
description:
  Lysosomal-associated transmembrane protein 5; May have a special functional role during embryogenesis and in adult hematopoietic cells.


ensembl_gene_id: ENSPPYP00000001893
symbol: TRNAU1AP
gene_biotype: protein_coding
description:
  tRNA selenocysteine 1-associated protein 1; Involved in the early steps of selenocysteine biosynthesis and tRNA(Sec) charging to the later steps resulting in the cotranslational incorporation of selenocysteine into selenoproteins. Stabilizes the SECISBP2, EEFSEC and tRNA(Sec) complex. May be involved in the methylation of tRNA(Sec). Enhances efficiency of selenoproteins synthesis (By similarity).


ensembl_gene_id: ENSPPYP00000001896
symbol: PHACTR4
gene_biotype: protein_coding
description:
  Phosphatase and actin regulator 4; Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. Acts as an activator of PP1 by interacting with PPP1CA and preventing phosphorylation of PPP1CA at 'Thr-320'. During neural tube closure, localizes to the ventral neural tube and activates PP1, leading to down-regulate cell proliferation within cranial neural tissue and the neural retina. Also acts as a regulator of migration of enteric neural crest cells (ENCCs) by activating PP1, leading to  [...]


ensembl_gene_id: ENSPPYP00000001898
symbol: MED18
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 18; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPPYP00000001899
symbol: SESN2
gene_biotype: protein_coding
description:
  Sestrin-2; Functions as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway through the GATOR complex. In absence of leucine, binds the GATOR subcomplex GATOR2 and prevents TORC1 signaling. Binding of leucine to SESN2 disrupts its interaction with GATOR2 thereby activating the TORC1 signaling pathway. This stress-inducible metabolic regulator also plays a role in protection against oxidative and genotoxic stresses. May negatively regulate protein translation in response to endoplasmic reticulum stress, via TORC1. May positively regulate the transcripti [...]


ensembl_gene_id: ENSPPYP00000001900
symbol: ATP5IF1
gene_biotype: protein_coding
description:
  ATPase inhibitor, mitochondrial; Endogenous F(1)F(o)-ATPase inhibitor limiting ATP depletion when the mitochondrial membrane potential falls below a threshold and the F(1)F(o)-ATP synthase starts hydrolyzing ATP to pump protons out of the mitochondrial matrix. Required to avoid the consumption of cellular ATP when the F(1)F(o)-ATP synthase enzyme acts as an ATP hydrolase. Indirectly acts as a regulator of heme synthesis in erythroid tissues: regulates heme synthesis by modulating the mitochondrial pH and redox potential, allowing FECH to efficiently catalyze the incorporation of iron i [...]


ensembl_gene_id: ENSPPYP00000001907
symbol: RPA2
gene_biotype: protein_coding
description:
  Replication protein A 32 kDa subunit; As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates, that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage. In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRI [...]


ensembl_gene_id: ENSPPYP00000001911
symbol: STX12
gene_biotype: protein_coding
description:
  Syntaxin-12; SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. The SNARE complex containing STX6, STX12, VAMP4 and VTI1A mediates vesicle fusion (in vitro) (By similarity). Through complex formation with GRIP1, GRIA2 and NSG1 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity).


ensembl_gene_id: ENSPPYP00000001928
symbol: SLC9A1
gene_biotype: protein_coding
description:
  Sodium/hydrogen exchanger; Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.


ensembl_gene_id: ENSPPYP00000001936
symbol: GPN2
gene_biotype: protein_coding
description:
  GPN-loop GTPase 2; Small GTPase required for proper localization of RNA polymerase II and III (RNAPII and RNAPIII). May act at an RNAP assembly step prior to nuclear import; Belongs to the GPN-loop GTPase family.


ensembl_gene_id: ENSPPYP00000001939
symbol: PIGV
gene_biotype: protein_coding
description:
  GPI mannosyltransferase 2; Mannosyltransferase involved in glycosylphosphatidylinositol- anchor biosynthesis.


ensembl_gene_id: ENSPPYP00000001943
symbol: HMGN2
gene_biotype: protein_coding
description:
  Non-histone chromosomal protein HMG-17; Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in a unique chromatin conformation (By similarity).


ensembl_gene_id: ENSPPYP00000001951
symbol: SH3BGRL3
gene_biotype: protein_coding
description:
  SH3 domain-binding glutamic acid-rich-like protein 3; Could act as a modulator of glutaredoxin biological activity. Belongs to the SH3BGR family.


ensembl_gene_id: ENSPPYP00000001981
symbol: RUNX3
gene_biotype: protein_coding
description:
  Runt-related transcription factor; Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'- TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX.


ensembl_gene_id: ENSPPYP00000001982
symbol: CLIC4
gene_biotype: protein_coding
description:
  Chloride intracellular channel protein 4; Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Promotes cell-surface expression of HRH3. May play a role in angiogenesis (By similarity).


ensembl_gene_id: ENSPPYP00000001983
symbol: SRRM1
gene_biotype: protein_coding
description:
  Serine/arginine repetitive matrix protein 1; Part of pre- and post-splicing multiprotein mRNP complexes. Involved in numerous pre-mRNA processing events. Promotes constitutive and exonic splicing enhancer (ESE)-dependent splicing activation by bridging together sequence-specific (SR family proteins, SFRS4, SFRS5 and TRA2B/SFRS10) and basal snRNP (SNRP70 and SNRPA1) factors of the spliceosome. Stimulates mRNA 3'-end cleavage independently of the formation of an exon junction complex. Binds both pre-mRNA and spliced mRNA 20-25 nt upstream of exon-exon junctions. Binds RNA and DNA with lo [...]


ensembl_gene_id: ENSPPYP00000002002
symbol: FUCA1
gene_biotype: protein_coding
description:
  Alpha-L-fucosidase; Alpha-L-fucosidase is responsible for hydrolyzing the alpha- 1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.


ensembl_gene_id: ENSPPYP00000002003
symbol: HMGCL
gene_biotype: protein_coding
description:
  Hydroxymethylglutaryl-CoA lyase, mitochondrial; Mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3- methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis. Terminal step in leucine catabolism. Ketone bodies (beta- hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism.


ensembl_gene_id: ENSPPYP00000002005
symbol: GALE
gene_biotype: protein_coding
description:
  UDP-glucose 4-epimerase; Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N- acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6-phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP-GalNAc when exogenous sources are limited. Both UDP-sugar interconversi [...]


ensembl_gene_id: ENSPPYP00000002010
symbol: RPL11
gene_biotype: protein_coding
description:
  60S ribosomal protein L11; Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through [...]


ensembl_gene_id: ENSPPYP00000002018
symbol: ZNF436
gene_biotype: protein_coding
description:
  Zinc finger protein 436; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000002023
symbol: KDM1A
gene_biotype: protein_coding
description:
  Lysine-specific histone demethylase; Histone demethylase that demethylates both 'Lys-4' (H3K4me) and 'Lys-9' (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Acts as a corepressor by mediating demethylation of H3K4me, a specific tag for epigenetic transcriptional activation. Demethylates both mono- (H3K4me1) and di-methylated (H3K4me2) H3K4me; Belongs to the flavin monoamine oxidase family.


ensembl_gene_id: ENSPPYP00000002047
symbol: SH2D5
gene_biotype: protein_coding
description:
  SH2 domain-containing protein 5; May be involved in synaptic plasticity regulation through the control of Rac-GTP levels.


ensembl_gene_id: ENSPPYP00000002050
symbol: DDOST
gene_biotype: protein_coding
description:
  Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across t [...]


ensembl_gene_id: ENSPPYP00000002054
symbol: CDA
gene_biotype: protein_coding
description:
  Cytidine deaminase; This enzyme scavenges exogenous and endogenous cytidine and 2'-deoxycytidine for UMP synthesis; Belongs to the cytidine and deoxycytidylate deaminase family.


ensembl_gene_id: ENSPPYP00000002071
symbol: MINOS1
gene_biotype: protein_coding
description:
  MICOS complex subunit MIC10; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane.


ensembl_gene_id: ENSPPYP00000002072
symbol: CAPZB
gene_biotype: protein_coding
description:
  F-actin-capping protein subunit beta; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. Plays a role in the regulation of cell morphology and cytoskeletal organization (By similarity).


ensembl_gene_id: ENSPPYP00000002079
symbol: MRTO4
gene_biotype: protein_coding
description:
  Ribosome assembly factor mrt4; Component of the ribosome assembly machinery. Nuclear paralog of the ribosomal protein P0, it binds pre-60S subunits at an early stage of assembly in the nucleolus, and is replaced by P0 in cytoplasmic pre-60S subunits and mature 80S ribosomes.


ensembl_gene_id: ENSPPYP00000002097
symbol: ARHGEF10L
gene_biotype: protein_coding
description:
  Rho guanine nucleotide exchange factor 10-like protein; Acts as guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC.


ensembl_gene_id: ENSPPYP00000002105
symbol: SDHB
gene_biotype: protein_coding
description:
  Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial; Iron-sulfur protein (IP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).


ensembl_gene_id: ENSPPYP00000002106
symbol: ATP13A2
gene_biotype: protein_coding
description:
  Cation-transporting ATPase; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.


ensembl_gene_id: ENSPPYP00000002116
symbol: FBXO42
gene_biotype: protein_coding
description:
  F-box only protein 42; Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Specifically recognizes p53/TP53, promoting its ubiquitination and degradation (By similarity).


ensembl_gene_id: ENSPPYP00000002131
symbol: FBLIM1
gene_biotype: protein_coding
description:
  Filamin-binding LIM protein 1; Serves as an anchoring site for cell-ECM adhesion proteins and filamin-containing actin filaments. Is implicated in cell shape modulation (spreading) and motility. May participate in the regulation of filamin-mediated cross-linking and stabilization of actin filaments. May also regulate the assembly of filamin-containing signaling complexes that control actin assembly. Promotes dissociation of FLNA from ITGB3 and ITGB7. Promotes activation of integrins and regulates integrin-mediated cell-cell adhesion (By similarity).


ensembl_gene_id: ENSPPYP00000002168
symbol: MFN2
gene_biotype: protein_coding
description:
  MFN2 isoform 1; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPPYP00000002169
symbol: PLOD1
gene_biotype: protein_coding
description:
  Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1; Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils (By similarity). Forms hydroxylysine residues in -Xaa-Lys- Gly- sequences in collagens (By similarity). These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (By similarity).


ensembl_gene_id: ENSPPYP00000002181
symbol: AGTRAP
gene_biotype: protein_coding
description:
  Type-1 angiotensin II receptor-associated protein; Appears to be a negative regulator of type-1 angiotensin II receptor-mediated signaling by regulating receptor internalisation as well as mechanism of receptor desensitization such as phosphorylation. Induces also a decrease in cell proliferation and angiotensin II- stimulated transcriptional activity (By similarity).


ensembl_gene_id: ENSPPYP00000002183
symbol: DRAXIN
gene_biotype: protein_coding
description:
  Draxin; Chemorepulsive axon guidance protein required for the development of spinal cord and forebrain commissures. Acts as a chemorepulsive guidance protein for commissural axons during development. Able to inhibit or repel neurite outgrowth from dorsal spinal cord. Inhibits the stabilization of cytosolic beta-catenin (CTNNB1) via its interaction with LRP6, thereby acting as an antagonist of Wnt signaling pathway.


ensembl_gene_id: ENSPPYP00000002194
symbol: TARDBP
gene_biotype: protein_coding
description:
  TAR DNA-binding protein 43; RNA-binding protein that is involved in various steps of RNA biogenesis and processing. Preferentially binds, via its two RNA recognition motifs RRM1 and RRM2, to GU-repeats on RNA molecules predominantly localized within long introns and in the 3'UTR of mRNAs. In turn, regulates the splicing of many non-coding and protein-coding RNAs including proteins involved in neuronal survival, as well as mRNAs that encode proteins relevant for neurodegenerative diseases. Plays a role in maintaining mitochondrial homeostasis by regulating the processing of mitochondria [...]


ensembl_gene_id: ENSPPYP00000002207
symbol: RBP7
gene_biotype: protein_coding
description:
  Retinol binding protein 7; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPPYP00000002222
symbol: SLC2A5
gene_biotype: protein_coding
description:
  Solute carrier family 2, facilitated glucose transporter member 5; Functions as a fructose transporter that has only low activity with other monosaccharides. Can mediate the uptake of deoxyglucose, but with low efficiency. Essential for fructose uptake in the small intestine. Plays a role in the regulation of salt uptake and blood pressure in response to dietary fructose. Required for the development of high blood pressure in response to high dietary fructose intake.


ensembl_gene_id: ENSPPYP00000002223
symbol: SLC2A7
gene_biotype: protein_coding
description:
  SLC2A7 isoform 1; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPPYP00000002227
symbol: ENO1
gene_biotype: protein_coding
description:
  Alpha-enolase; Glycolytic enzyme the catalyzes the conversion of 2- phosphoglycerate to phosphoenolpyruvate. In addition to glycolysis, involved in various processes such as growth control, hypoxia tolerance and allergic responses. May also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons. Stimulates immunoglobulin production; Belongs to the enolase family.


ensembl_gene_id: ENSPPYP00000002243
symbol: DNAJC11
gene_biotype: protein_coding
description:
  DnaJ homolog subfamily C member 11; Required for mitochondrial inner membrane organization. Seems to function through its association with the MICOS complex and the mitochondrial outer membrane sorting assembly machinery (SAM) complex.


ensembl_gene_id: ENSPPYP00000002248
symbol: ZBTB48
gene_biotype: protein_coding
description:
  Telomere zinc finger-associated protein; Telomere-binding protein that acts as a regulator of telomere length. Directly binds the telomeric double-stranded 5'-TTAGGG-3' repeat. Preferentially binds to telomeres that have a low concentration of shelterin complex and acts as a regulator of telomere length by initiating telomere trimming, a process that prevents the accumulation of aberrantly long telomeres. Also acts as a transcription regulator that binds to promoter regions. Regulates expression of a small subset of genes, including MTFP1. Regulates expression the J and/or S elements i [...]


ensembl_gene_id: ENSPPYP00000002277
symbol: TP73
gene_biotype: protein_coding
description:
  Tumor protein p73; Participates in the apoptotic response to DNA damage. Isoforms containing the transactivation domain are pro-apoptotic, isoforms lacking the domain are anti-apoptotic and block the function of p53 and transactivating p73 isoforms. May be a tumor suppressor protein.


ensembl_gene_id: ENSPPYP00000002288
symbol: PRXL2B
gene_biotype: protein_coding
description:
  Prostamide/prostaglandin F synthase; Catalyzes the reduction of prostaglandin-ethanolamide H(2) (prostamide H(2)) to prostamide F(2alpha) with NADPH as proton donor. Also able to reduce prostaglandin H(2) to prostaglandin F(2alpha) (By similarity); Belongs to the peroxiredoxin-like PRXL2 family. Prostamide/prostaglandin F synthase subfamily.


ensembl_gene_id: ENSPPYP00000002291
symbol: PANK4
gene_biotype: protein_coding
description:
  4'-phosphopantetheine phosphatase; May play a role in the physiological regulation of coenzyme A (CoA) intracellular levels. The phosphatase activity shows preference for normal or oxidatively damaged intermediates of 4'- phosphopantetheine, which provides strong indirect evidence that the phosphatase activity pre-empts damage in the CoA pathway. Hydrolyzing excess 4'-phosphopantetheine could constitute a directed overflow mechanism to prevent its oxidation to the S-sulfonate, sulfonate, or other forms. Hydrolyzing 4'-phosphopantetheine sulfonate or S-sulfonate would forestall their co [...]


ensembl_gene_id: ENSPPYP00000002294
symbol: RER1
gene_biotype: protein_coding
description:
  Protein RER1; Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment; Belongs to the RER1 family.


ensembl_gene_id: ENSPPYP00000002299
symbol: CR201_G0025573
gene_biotype: protein_coding
description:
  Protein kinase C; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily.


ensembl_gene_id: ENSPPYP00000002307
symbol: GNB1
gene_biotype: protein_coding
description:
  Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.


ensembl_gene_id: ENSPPYP00000002328
symbol: INTS11
gene_biotype: protein_coding
description:
  Integrator complex subunit 11; Catalytic component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. Mediates the snRNAs 3' cleavage. Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex; Belongs to the metallo-beta-lactamase superfamily. RNA- metabolizing metallo-beta-lactam [...]


ensembl_gene_id: ENSPPYP00000002348
symbol: CR201_G0054189
gene_biotype: protein_coding
description:
  Tubulin beta chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.


ensembl_gene_id: ENSPPYP00000002356
symbol: GTPBP4
gene_biotype: protein_coding
description:
  Nucleolar GTP-binding protein 1; Involved in the biogenesis of the 60S ribosomal subunit. Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family. NOG subfamily.


ensembl_gene_id: ENSPPYP00000002358
symbol: IDI1
gene_biotype: protein_coding
description:
  Isopentenyl-diphosphate Delta-isomerase 1; Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP).


ensembl_gene_id: ENSPPYP00000002366
symbol: PFKP
gene_biotype: protein_coding
description:
  ATP-dependent 6-phosphofructokinase, platelet type; Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis; Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade 'E' sub-subfamily.


ensembl_gene_id: ENSPPYP00000002367
symbol: PITRM1
gene_biotype: protein_coding
description:
  Presequence protease, mitochondrial; Metalloendopeptidase of the mitochondrial matrix that functions in peptide cleavage and degradation rather than in protein processing. Has an ATP-independent activity. Specifically cleaves peptides in the range of 5 to 65 residues. Shows a preference for cleavage after small polar residues and before basic residues, but without any positional preference. Degrades the transit peptides of mitochondrial proteins after their cleavage. Also degrades other unstructured peptides. It is also able to degrade amyloid-beta protein 40, one of the peptides produ [...]


ensembl_gene_id: ENSPPYP00000002376
symbol: AKR1C4
gene_biotype: protein_coding
description:
  Aldo-keto reductase family 1 member C3 homolog; Catalyzes the conversion of aldehydes and ketones to alcohols. Catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ) and the oxidation of 9-alpha,11-beta-PGF2 to PGD2. Functions as a bi-directional 3-alpha-, 17-beta- and 20-alpha HSD. Can interconvert active androgens, estrogens and progestins with their cognate inactive metabolites. Preferentially transforms androstenedione (4-dione) to testosterone.


ensembl_gene_id: ENSPPYP00000002379
symbol: TUBAL3
gene_biotype: protein_coding
description:
  Tubulin alpha chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.


ensembl_gene_id: ENSPPYP00000002386
symbol: GDI2
gene_biotype: protein_coding
description:
  Rab GDP dissociation inhibitor beta; Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them.


ensembl_gene_id: ENSPPYP00000002394
symbol: PFKFB3
gene_biotype: protein_coding
description:
  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3; Synthesis and degradation of fructose 2,6-bisphosphate.


ensembl_gene_id: ENSPPYP00000002399
symbol: ITIH5
gene_biotype: protein_coding
description:
  Inter-alpha-trypsin inhibitor heavy chain H5; May act as a tumor suppressor; Belongs to the ITIH family.


ensembl_gene_id: ENSPPYP00000002405
symbol: ATP5F1C
gene_biotype: protein_coding
description:
  ATP synthase subunit gamma, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the  [...]


ensembl_gene_id: ENSPPYP00000002413
symbol: CELF2
gene_biotype: protein_coding
description:
  CUGBP Elav-like family member 2; RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle. Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB. Acts as both an activator and repressor of a pair of coregulated exons: promotes [...]


ensembl_gene_id: ENSPPYP00000002424
symbol: SEC61A2
gene_biotype: protein_coding
description:
  Protein transport protein Sec61 subunit alpha isoform 2; Appears to play a crucial role in the insertion of secretory and membrane polypeptides into the ER. It is required for assembly of membrane and secretory proteins. Found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins (By similarity).


ensembl_gene_id: ENSPPYP00000002427
symbol: NUDT5
gene_biotype: protein_coding
description:
  ADP-sugar pyrophosphatase; Enzyme that can either act as an ADP-sugar pyrophosphatase in absence of diphosphate or catalyze the synthesis of ATP in presence of diphosphate. In absence of diphosphate, hydrolyzes with similar activities various modified nucleoside diphosphates such as ADP-ribose, ADP-mannose, ADP-glucose, 8-oxo-GDP and 8-oxo-dGDP. Can also hydrolyze other nucleotide sugars with low activity. In presence of diphosphate, mediates the synthesis of ATP in the nucleus by catalyzing the conversion of ADP-ribose to ATP and ribose 5-phosphate. Nuclear ATP synthesis takes place w [...]


ensembl_gene_id: ENSPPYP00000002431
symbol: OPTN
gene_biotype: protein_coding
description:
  Optineurin; Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8. Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation. Negatively regulates the induction of IFNB in response to RNA virus infection. Plays a neuroprotective role in the eye and optic nerve. Probably part of the TNF-alpha signaling pathway that can shift the equilibrium toward induction of cell death. May act by regulating membrane trafficking and cellular morphogenesis via a complex th [...]


ensembl_gene_id: ENSPPYP00000002437
symbol: SEPHS1
gene_biotype: protein_coding
description:
  Selenide, water dikinase 1; Synthesizes selenophosphate from selenide and ATP. Belongs to the selenophosphate synthase 1 family. Class II subfamily.


ensembl_gene_id: ENSPPYP00000002443
symbol: HSPA14
gene_biotype: protein_coding
description:
  Heat shock 70 kDa protein 14; Component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding- competent state. In the RAC complex, binds to the nascent polypeptide chain, while DNAJC2 stimulates its ATPase activity (By similarity).


ensembl_gene_id: ENSPPYP00000002444
symbol: SUV39H2
gene_biotype: protein_coding
description:
  Histone-lysine N-methyltransferase; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily.


ensembl_gene_id: ENSPPYP00000002445
symbol: DCLRE1C
gene_biotype: protein_coding
description:
  Protein artemis; Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and  [...]


ensembl_gene_id: ENSPPYP00000002451
symbol: NMT2
gene_biotype: protein_coding
description:
  Glycylpeptide N-tetradecanoyltransferase; Adds a myristoyl group to the N-terminal glycine residue of certain cellular proteins; Belongs to the NMT family.


ensembl_gene_id: ENSPPYP00000002452
symbol: FAM171A1
gene_biotype: protein_coding
description:
  Protein FAM171A1; Involved in the regulation of the cytoskeletal dynamics, plays a role in actin stress fiber formation.


ensembl_gene_id: ENSPPYP00000002461
symbol: TRDMT1
gene_biotype: protein_coding
description:
  TRDMT1 isoform 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.


ensembl_gene_id: ENSPPYP00000002464
symbol: ST8SIA6
gene_biotype: protein_coding
description:
  ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSPPYP00000002466
symbol: HACD1
gene_biotype: protein_coding
description:
  Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase; Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates to the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors  [...]


ensembl_gene_id: ENSPPYP00000002478
symbol: NSUN6
gene_biotype: protein_coding
description:
  NSUN6 isoform 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPPYP00000002492
symbol: BMI1
gene_biotype: protein_coding
description:
  Polycomb complex protein BMI-1; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. The complex composed of RNF2, UB2D3 and BMI1 binds nucleosomes, and has activity only with nucleosomal histone H2A. In the PRC1-like complex, regulates the E3 ub [...]


ensembl_gene_id: ENSPPYP00000002498
symbol: MSRB2
gene_biotype: protein_coding
description:
  Peptide-methionine (R)-S-oxide reductase; Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residues.


ensembl_gene_id: ENSPPYP00000002507
symbol: PRTFDC1
gene_biotype: protein_coding
description:
  Hypoxanthine phosphoribosyltransferase; Belongs to the purine/pyrimidine phosphoribosyltransferase family.


ensembl_gene_id: ENSPPYP00000002523
symbol: ACBD5
gene_biotype: protein_coding
description:
  Acyl-CoA-binding domain-containing protein 5; Acyl-CoA binding protein which acts as the peroxisome receptor for pexophagy but is dispensable for aggrephagy and nonselective autophagy. Binds medium- and long-chain acyl-CoA esters (By similarity).


ensembl_gene_id: ENSPPYP00000002529
symbol: RAB18
gene_biotype: protein_coding
description:
  Ras-related protein Rab-18; Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration (By similarity).


ensembl_gene_id: ENSPPYP00000002530
symbol: MKX
gene_biotype: protein_coding
description:
  Homeobox protein Mohawk; May act as a morphogenetic regulator of cell adhesion. Belongs to the TALE/IRO homeobox family.


ensembl_gene_id: ENSPPYP00000002537
symbol: BAMBI
gene_biotype: protein_coding
description:
  BMP and activin membrane-bound inhibitor homolog; Negatively regulates TGF-beta signaling. Belongs to the BAMBI family.


ensembl_gene_id: ENSPPYP00000002560
symbol: ITGB1
gene_biotype: protein_coding
description:
  Integrin beta-1; Integrins alpha-1/beta-1, alpha-2/beta-1, alpha-10/beta-1 and alpha-11/beta-1 are receptors for collagen. Integrins alpha-1/beta-1 and alpha-2/beta-2 recognize the proline-hydroxylated sequence G-F-P-G- E-R in collagen. Integrins alpha-2/beta-1, alpha-3/beta-1, alpha- 4/beta-1, alpha-5/beta-1, alpha-8/beta-1, alpha-10/beta-1, alpha- 11/beta-1 and alpha-V/beta-1 are receptors for fibronectin. Alpha- 4/beta-1 recognizes one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. Integrin alpha-5/beta-1 is a receptor for fibrinogen. Integrin [...]


ensembl_gene_id: ENSPPYP00000002572
symbol: ZNF248
gene_biotype: protein_coding
description:
  Zinc finger protein 248; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000002579
symbol: RET
gene_biotype: protein_coding
description:
  Proto-oncogene tyrosine-protein kinase receptor Ret; Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation upon binding with glial cell derived neurotrophic factor family ligands.


ensembl_gene_id: ENSPPYP00000002589
symbol: ZNF239
gene_biotype: protein_coding
description:
  Zinc finger protein 239; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000002601
symbol: ZNF22
gene_biotype: protein_coding
description:
  Zinc finger protein 22; Binds DNA through the consensus sequence 5'-CAATG-3'. May be involved in transcriptional regulation and may play a role in tooth formation (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000002605
symbol: Washc2
gene_biotype: protein_coding
description:
  WASH complex subunit 2; Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation- promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex prob [...]


ensembl_gene_id: ENSPPYP00000002637
symbol: TIMM23B
gene_biotype: protein_coding
description:
  Mitochondrial import inner membrane translocase subunit Tim23; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.


ensembl_gene_id: ENSPPYP00000002646
symbol: BMPR1A
gene_biotype: protein_coding
description:
  Receptor protein serine/threonine kinase; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.


ensembl_gene_id: ENSPPYP00000002666
symbol: MAT1A
gene_biotype: protein_coding
description:
  S-adenosylmethionine synthase; Catalyzes the formation of S-adenosylmethionine from methionine and ATP.


ensembl_gene_id: ENSPPYP00000002679
symbol: RPS24-2
gene_biotype: protein_coding
description:
  40S ribosomal protein S24; Required for processing of pre-rRNA and maturation of 40S ribosomal subunits.


ensembl_gene_id: ENSPPYP00000002680
symbol: POLR3A
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase subunit; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.


ensembl_gene_id: ENSPPYP00000002690
symbol: DUSP13
gene_biotype: protein_coding
description:
  DUSP13 isoform 7; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPPYP00000002691
symbol: DUPD1
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase; Dual specificity phosphatase able to dephosphorylate phosphotyrosine, phosphoserine and phosphothreonine residues, with a preference for phosphotyrosine as a substrate. Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPPYP00000002697
symbol: AP3M1
gene_biotype: protein_coding
description:
  AP-3 complex subunit mu-1; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (By similarity); Belongs to the adaptor complexes medium subunit family.


ensembl_gene_id: ENSPPYP00000002700
symbol: PLAU
gene_biotype: protein_coding
description:
  Urokinase-type plasminogen activator short chain A; Specifically cleaves the zymogen plasminogen to form the active enzyme plasmin; Belongs to the peptidase S1 family.


ensembl_gene_id: ENSPPYP00000002706
symbol: FUT11
gene_biotype: protein_coding
description:
  Alpha-(1,3)-fucosyltransferase; Probable fucosyltransferase; Belongs to the glycosyltransferase 10 family.


ensembl_gene_id: ENSPPYP00000002727
symbol: P4HA1
gene_biotype: protein_coding
description:
  Prolyl 4-hydroxylase subunit alpha-1; Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins; Belongs to the P4HA family.


ensembl_gene_id: ENSPPYP00000002746
symbol: SGPL1
gene_biotype: protein_coding
description:
  Sphingosine-1-phosphate lyase 1; Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis (By similarity). Required for global lipid homeostasis in liver and cholesterol homeostasis in fibroblasts. Involved in the regulation of pro-inflammatory response and neutrophil trafficking. Modulates neuronal autophagy via phosphoethanolamine production which regulates accumulation of aggregate-prone proteins such as APP (By similarity). Seems to play a role in establish [...]


ensembl_gene_id: ENSPPYP00000002755
symbol: SAR1A
gene_biotype: protein_coding
description:
  GTP-binding protein SAR1a; Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Required to maintain SEC16A localization at discrete locations on the ER membrane perhaps by preventing its dissociation. SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining endoplasmic reticulum exit sites (ERES) (By similarity).


ensembl_gene_id: ENSPPYP00000002759
symbol: MACROH2A2
gene_biotype: protein_coding
description:
  Core histone macro-H2A; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes.


ensembl_gene_id: ENSPPYP00000002765
symbol: HK1
gene_biotype: protein_coding
description:
  Hexokinase-1; Catalyzes the phosphorylation of various hexoses, such as D- glucose, D-glucosamine, D-fructose, D-mannose and 2-deoxy-D-glucose, to hexose 6-phosphate (D-glucose 6-phosphate, D-glucosamine 6-phosphate, D-fructose 6-phosphate, D-mannose 6-phosphate and 2-deoxy-D-glucose 6- phosphate, respectively). Does not phosphorylate N-acetyl-D-glucosamine (By similarity). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (By similarity). Involved in innate immunity and inflammation by acting as a pattern recognition receptor f [...]


ensembl_gene_id: ENSPPYP00000002795
symbol: NRBF2
gene_biotype: protein_coding
description:
  Nuclear receptor-binding factor 2; May modulate transcriptional activation by target nuclear receptors. Can act as transcriptional activator (in vitro) (By similarity); Belongs to the NRBF family.


ensembl_gene_id: ENSPPYP00000002800
symbol: ZNF365
gene_biotype: protein_coding
description:
  Protein ZNF365; Involved in the regulation of neurogenesis. Negatively regulates neurite outgrowth (By similarity). Involved in the morphogenesis of basket cells in the somatosensory cortex during embryogenesis. Involved in the positive regulation of oligodendrocyte differentiation during postnatal growth. Involved in dendritic arborization, morphogenesis of spine density dendrite, and establishment of postsynaptic dendrite density in cortical pyramidal neurons (By similarity). Involved in homologous recombination (HR) repair pathway. Required for proper resolution of DNA double-strand [...]


ensembl_gene_id: ENSPPYP00000002808
symbol: CDK1
gene_biotype: protein_coding
description:
  Cyclin-dependent kinase 1; Plays a key role in the control of the eukaryotic cell cycle by modulating the centrosome cycle as well as mitotic onset; promotes G2-M transition, and regulates G1 progress and G1-S transition via association with multiple interphase cyclins. Required in higher cells for entry into S-phase and mitosis. Phosphorylates PARVA/actopaxin, APC, AMPH, APC, BARD1, Bcl-xL/BCL2L1, BRCA2, CALD1, CASP8, CDC7, CDC20, CDC25A, CDC25C, CC2D1A, CENPA, CSNK2 proteins/CKII, FZR1/CDH1, CDK7, CEBPB, CHAMP1, DMD/dystrophin, EEF1 proteins/EF-1, EZH2, KIF11/EG5, EGFR, FANCG, FOS, G [...]


ensembl_gene_id: ENSPPYP00000002813
symbol: SLC16A9
gene_biotype: protein_coding
description:
  Monocarboxylate transporter 9; Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane. Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.


ensembl_gene_id: ENSPPYP00000002838
symbol: PTEN
gene_biotype: protein_coding
description:
  Pongo abelii phosphatase and tensin homolog (PTEN), mRNA; Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine- phosphorylated proteins. Also acts as a lipid phosphatase. Belongs to the PTEN phosphatase protein family.


ensembl_gene_id: ENSPPYP00000002842
symbol: MINPP1
gene_biotype: protein_coding
description:
  Multiple inositol polyphosphate phosphatase 1; Acts as a phosphoinositide 5- and phosphoinositide 6- phosphatase and regulates cellular levels of inositol pentakisphosphate (InsP5) and inositol hexakisphosphate (InsP6). Also acts as a 2,3- bisphosphoglycerate 3-phosphatase, by mediating the dephosphorylation of 2,3-bisphosphoglycerate (2,3-BPG) to produce phospho-D-glycerate without formation of 3-phosphoglycerate. May play a role in bone development (endochondral ossification). May play a role in the transition of chondrocytes from proliferation to hypertrophy (By similarity); Belongs [...]


ensembl_gene_id: ENSPPYP00000002847
symbol: STAMBPL1
gene_biotype: protein_coding
description:
  AMSH-like protease; Zinc metalloprotease that specifically cleaves 'Lys-63'- linked polyubiquitin chains. Does not cleave 'Lys-48'-linked polyubiquitin chains (By similarity).


ensembl_gene_id: ENSPPYP00000002871
symbol: HECTD2
gene_biotype: protein_coding
description:
  Probable E3 ubiquitin-protein ligase HECTD2; Probable E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.


ensembl_gene_id: ENSPPYP00000002872
symbol: PPP1R3C
gene_biotype: protein_coding
description:
  Protein phosphatase 1 regulatory subunit 3C; Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown.


ensembl_gene_id: ENSPPYP00000002878
symbol: KIF11
gene_biotype: protein_coding
description:
  Kinesin family member 11; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPPYP00000002881
symbol: EXOC6
gene_biotype: protein_coding
description:
  Exocyst complex component; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.


ensembl_gene_id: ENSPPYP00000002892
symbol: LGI1
gene_biotype: protein_coding
description:
  Leucine-rich glioma-inactivated protein 1; Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 that positively regulates synaptic transmission mediated by AMPA-type glutamate receptors. Plays a role in suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway (By similarity).


ensembl_gene_id: ENSPPYP00000002897
symbol: NOC3L
gene_biotype: protein_coding
description:
  Nucleolar complex protein 3 homolog; May be required for adipogenesis; Belongs to the CBF/MAK21 family.


ensembl_gene_id: ENSPPYP00000002911
symbol: ALDH18A1
gene_biotype: protein_coding
description:
  Delta-1-pyrroline-5-carboxylate synthase; Bifunctional enzyme that converts glutamate to glutamate 5- semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine; In the C-terminal section; belongs to the gamma-glutamyl phosphate reductase family.


ensembl_gene_id: ENSPPYP00000002922
symbol: DNTT
gene_biotype: protein_coding
description:
  DNA nucleotidylexotransferase; Template-independent DNA polymerase which catalyzes the random addition of deoxynucleoside 5'-triphosphate to the 3'-end of a DNA initiator.


ensembl_gene_id: ENSPPYP00000002923
symbol: OPALIN
gene_biotype: protein_coding
description:
  Opalin; Central nervous system-specific myelin protein that increase myelin genes expression during oligodendrocyte differentiation. Promotes oligodendrocyte terminal differentiation.


ensembl_gene_id: ENSPPYP00000002936
symbol: PGAM1
gene_biotype: protein_coding
description:
  Phosphoglycerate mutase 1; Interconversion of 3- and 2-phosphoglycerate with 2,3- bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity.


ensembl_gene_id: ENSPPYP00000002945
symbol: MORN4
gene_biotype: protein_coding
description:
  MORN repeat-containing protein 4; Plays a role in promoting axonal degeneration following neuronal injury by toxic insult or trauma.


ensembl_gene_id: ENSPPYP00000002947
symbol: AVPI1
gene_biotype: protein_coding
description:
  Arginine vasopressin-induced protein 1; May be involved in MAP kinase activation, epithelial sodium channel (ENaC) down-regulation and cell cycling.


ensembl_gene_id: ENSPPYP00000002949
symbol: ZFYVE27
gene_biotype: protein_coding
description:
  Protrudin; Key regulator of RAB11-dependent vesicular trafficking during neurite extension through polarized membrane transport. Promotes axonal elongation and contributes to the establishment of neuronal cell polarity. Involved in nerve growth factor-induced neurite formation in VAPA-dependent manner. Contributes to both the formation and stabilization of the tubular ER network. Involved in ER morphogenesis by regulating the sheet-to-tubule balance and possibly the density of tubule interconnections. Acts as an adapter protein that facilitates the interaction of KIF5A with VAPA, VAPB, [...]


ensembl_gene_id: ENSPPYP00000002962
symbol: GOT1
gene_biotype: protein_coding
description:
  Aspartate aminotransferase, cytoplasmic; Biosynthesis of L-glutamate from L-aspartate or L-cysteine. Important regulator of levels of glutamate, the major excitatory neurotransmitter of the vertebrate central nervous system. Acts as a scavenger of glutamate in brain neuroprotection. The aspartate aminotransferase activity is involved in hepatic glucose synthesis during development and in adipocyte glyceroneogenesis. Using L-cysteine as substrate, regulates levels of mercaptopyruvate, an important source of hydrogen sulfide. Mercaptopyruvate is converted into H(2)S via the action of 3-m [...]


ensembl_gene_id: ENSPPYP00000002967
symbol: ENTPD7
gene_biotype: protein_coding
description:
  Ectonucleoside triphosphate diphosphohydrolase 7; Preferentially hydrolyzes nucleoside 5'-triphosphates. The order of activity with respect to possible substrates is UTP > GTP > CTP (By similarity).


ensembl_gene_id: ENSPPYP00000002973
symbol: ERLIN1
gene_biotype: protein_coding
description:
  Erlin-1; Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5- trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. Binds cholesterol and may promote ER retention of the SCAP-SREBF complex (By similarity).


ensembl_gene_id: ENSPPYP00000002983
symbol: NDUFB8
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPPYP00000002988
symbol: SLF2
gene_biotype: protein_coding
description:
  SMC5-SMC6 complex localization factor protein 2; Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance. The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks. Promotes the recruitment of the SMC5-SMC6 complex to DNA lesions.


ensembl_gene_id: ENSPPYP00000002992
symbol: LZTS2
gene_biotype: protein_coding
description:
  Leucine zipper putative tumor suppressor 2; Negative regulator of katanin-mediated microtubule severing and release from the centrosome. Required for central spindle formation and the completion of cytokinesis. May negatively regulate axonal outgrowth by preventing the formation of microtubule bundles that are necessary for transport within the elongating axon. Negative regulator of the Wnt signaling pathway. Represses beta-catenin-mediated transcriptional activation by promoting the nuclear exclusion of beta- catenin.


ensembl_gene_id: ENSPPYP00000002994
symbol: PDZD7
gene_biotype: protein_coding
description:
  PDZ domain-containing protein 7; In cochlear developing hair cells, essential in organizing the USH2 complex at stereocilia ankle links. Blocks inhibition of adenylate cyclase activity mediated by ADGRV1.


ensembl_gene_id: ENSPPYP00000002997
symbol: SFXN3
gene_biotype: protein_coding
description:
  Sideroflexin-3; Mitochondrial serine transporter that mediates transport of serine into mitochondria, an important step of the one-carbon metabolism pathway. Mitochondrial serine is converted to glycine and formate, which then exits to the cytosol where it is used to generate the charged folates that serve as one-carbon donors. Belongs to the sideroflexin family.


ensembl_gene_id: ENSPPYP00000003004
symbol: POLL
gene_biotype: protein_coding
description:
  DNA polymerase; DNA polymerase that functions in several pathways of DNA repair. Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA. Also contributes to DNA double-strand break repair by non-homologous end joining and homologous recombination. Has both template-dependent and template- independent (terminal transferase) DNA polymerase activities. Has also a 5'-deoxyribose-5-phosphate lyase (dRP lyase) activity.


ensembl_gene_id: ENSPPYP00000003010
symbol: NPM3
gene_biotype: protein_coding
description:
  Nucleoplasmin-3; Plays a role in the regulation of diverse cellular processes such as ribosome biogenesis, chromatin remodeling or protein chaperoning. Modulates the histone chaperone function and the RNA- binding activity of nucleolar phosphoprotein B23/NPM. Efficiently mediates chromatin remodeling when included in a pentamer containing NPM3 and NPM; Belongs to the nucleoplasmin family.


ensembl_gene_id: ENSPPYP00000003019
symbol: ELOVL3
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 3; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18:0 acyl-CoAs. May participate to the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precurs [...]


ensembl_gene_id: ENSPPYP00000003030
symbol: SUFU
gene_biotype: protein_coding
description:
  Suppressor of fused homolog; Negative regulator in the hedgehog signaling pathway. Down- regulates GLI1-mediated transactivation of target genes. Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein. Negative regulator of beta-catenin signaling. Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full-length form of  [...]


ensembl_gene_id: ENSPPYP00000003033
symbol: ARL3
gene_biotype: protein_coding
description:
  ADP-ribosylation factor-like protein 3; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase- activating proteins (GAP). Required for normal cytokinesis and cilia signaling. Requires assistance from GTPase-activating proteins (GAPs) like RP2 and PDE6D, in order to cycle between inactive GDP-bound and active GTP-bound forms. Required for targeting proteins to the cilium, including myristoylated NPHP3 and prenylated INPP5E. Targets NPHP3 to the ciliar [...]


ensembl_gene_id: ENSPPYP00000003040
symbol: BORCS7
gene_biotype: protein_coding
description:
  BLOC-1-related complex subunit 7; As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor.


ensembl_gene_id: ENSPPYP00000003045
symbol: NT5C2
gene_biotype: protein_coding
description:
  Cytosolic purine 5'-nucleotidase; May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5'-monophosphate (IMP) and other purine nucleotides (By similarity). Belongs to the 5'(3')-deoxyribonucleotidase family.


ensembl_gene_id: ENSPPYP00000003058
symbol: STN1
gene_biotype: protein_coding
description:
  CST complex subunit STN1; Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation. However, the CST complex has been shown to be involved in several aspects of telomere replication.


ensembl_gene_id: ENSPPYP00000003078
symbol: SMNDC1
gene_biotype: protein_coding
description:
  Survival of motor neuron-related-splicing factor 30; Necessary for spliceosome assembly. Overexpression causes apoptosis (By similarity); Belongs to the SMN family.


ensembl_gene_id: ENSPPYP00000003080
symbol: DUSP5
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPPYP00000003081
symbol: SMC3
gene_biotype: protein_coding
description:
  Structural maintenance of chromosomes protein 3; Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement (By similarity); Belongs to the SMC family. SMC3 [...]


ensembl_gene_id: ENSPPYP00000003086
symbol: PDCD4
gene_biotype: protein_coding
description:
  Programmed cell death protein 4; Inhibits translation initiation and cap-dependent translation. May excert its function by hindering the interaction between EIF4A1 and EIF4G. Inhibits the helicase activity of EIF4A. Modulates the activation of JUN kinase. Down-regulates the expression of MAP4K1, thus inhibiting events important in driving invasion, namely, MAPK85 activation and consequent JUN-dependent transcription. May play a role in apoptosis. Tumor suppressor. Inhibits tumor promoter-induced neoplastic transformation. Binds RNA (By similarity). Belongs to the PDCD4 family.


ensembl_gene_id: ENSPPYP00000003088
symbol: SHOC2
gene_biotype: protein_coding
description:
  Leucine-rich repeat protein SHOC-2; Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes.


ensembl_gene_id: ENSPPYP00000003094
symbol: ZDHHC6
gene_biotype: protein_coding
description:
  Palmitoyltransferase ZDHHC6; Endoplasmic reticulum palmitoyl acyltransferase that mediates palmitoylation of proteins such as AMFR, CALX, ITPR1 and TFRC. Palmitoylates calnexin (CALX), which is required for its association with the ribosome-translocon complex and efficient folding of glycosylated proteins. Mediates palmitoylation of AMFR, promoting AMFR distribution to the peripheral endoplasmic reticulum. Together with SELENOK, palmitoylates ITPR1 in immune cells, leading to regulate ITPR1 stability and function.


ensembl_gene_id: ENSPPYP00000003137
symbol: SHTN1
gene_biotype: protein_coding
description:
  Shootin-1; Involved in the generation of internal asymmetric signals required for neuronal polarization and neurite outgrowth. Mediates netrin-1-induced F-actin-substrate coupling or 'clutch engagement' within the axon growth cone through activation of CDC42, RAC1 and PAK1- dependent signaling pathway, thereby converting the F-actin retrograde flow into traction forces, concomitantly with filopodium extension and axon outgrowth. Plays a role in cytoskeletal organization by regulating the subcellular localization of phosphoinositide 3-kinase (PI3K) activity at the axonal growth cone. Pl [...]


ensembl_gene_id: ENSPPYP00000003148
symbol: EIF3A
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit A; RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termi [...]


ensembl_gene_id: ENSPPYP00000003152
symbol: PRDX3
gene_biotype: protein_coding
description:
  Thioredoxin-dependent peroxide reductase, mitochondrial; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides.


ensembl_gene_id: ENSPPYP00000003153
symbol: GRK5
gene_biotype: protein_coding
description:
  G protein-coupled receptor kinase; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily.


ensembl_gene_id: ENSPPYP00000003167
symbol: ATE1
gene_biotype: protein_coding
description:
  Arginyl-tRNA--protein transferase 1; Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway. Belongs to the R-transferase family.


ensembl_gene_id: ENSPPYP00000003168
symbol: NSMCE4A
gene_biotype: protein_coding
description:
  Non-structural maintenance of chromosomes element 4; Component of the SMC5-SMC6 complex, that promotes sister chromatid alignment after DNA damage and facilitates double-stranded DNA breaks (DSBs) repair via homologous recombination between sister chromatids.


ensembl_gene_id: ENSPPYP00000003186
symbol: IKZF5
gene_biotype: protein_coding
description:
  Zinc finger protein Pegasus; DNA-binding protein that binds to the 5'GNNTGTNG-3' core sequence. Transcriptional repressor (By similarity); Belongs to the Ikaros C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000003189
symbol: ACADSB
gene_biotype: protein_coding
description:
  Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial; Has greatest activity toward short branched chain acyl-CoA derivative such as (s)-2-methylbutyryl-CoA, isobutyryl-CoA, and 2- methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA and hexanoyl-CoA. Can use valproyl-CoA as substrate and may play a role in controlling the metabolic flux of valproic acid in the development of toxicity of this agent (By similarity).


ensembl_gene_id: ENSPPYP00000003192
symbol: BUB3
gene_biotype: protein_coding
description:
  Mitotic checkpoint protein BUB3; Has a dual function in spindle-assembly checkpoint signaling and in promoting the establishment of correct kinetochore-microtubule (K-MT) attachments. Promotes the formation of stable end-on bipolar attachments. Necessary for kinetochore localization of BUB1. Regulates chromosome segregation during oocyte meiosis. The BUB1/BUB3 complex plays a role in the inhibition of anaphase-promoting complex or cyclosome (APC/C) when spindle-assembly checkpoint is activated and inhibits the ubiquitin ligase activity of APC/C by phosphorylating its activator CDC20. T [...]


ensembl_gene_id: ENSPPYP00000003210
symbol: EDRF1
gene_biotype: protein_coding
description:
  Erythroid differentiation-related factor 1; Transcription factor involved in erythroid differentiation. Involved in transcriptional activation of the globin gene (By similarity).


ensembl_gene_id: ENSPPYP00000003215
symbol: BCCIP
gene_biotype: protein_coding
description:
  BRCA2 and CDKN1A-interacting protein; May promote cell cycle arrest by enhancing the inhibition of CDK2 activity by CDKN1A. May be required for repair of DNA damage by homologous recombination in conjunction with BRCA2. May not be involved in non-homologous end joining (NHEJ); Belongs to the BCP1 family.


ensembl_gene_id: ENSPPYP00000003235
symbol: PPP2R2D
gene_biotype: protein_coding
description:
  Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B; Belongs to the phosphatase 2A regulatory subunit B family.


ensembl_gene_id: ENSPPYP00000003257
symbol: TUBGCP2
gene_biotype: protein_coding
description:
  Gamma-tubulin complex component 2; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.


ensembl_gene_id: ENSPPYP00000003261
symbol: ECHS1
gene_biotype: protein_coding
description:
  Enoyl-CoA hydratase, mitochondrial; Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate (By similarity). Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate (By similarity); Belongs to the enoyl-CoA hydratase/isomerase family.


ensembl_gene_id: ENSPPYP00000003286
symbol: A1CF
gene_biotype: protein_coding
description:
  APOBEC1 complementation factor; Essential component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in APOB mRNA. Binds to APOB mRNA and is probably responsible for docking the catalytic subunit, APOBEC1, to the mRNA to allow it to deaminate its target cytosine. The complex also seems to protect the edited APOB mRNA from nonsense-mediated decay (By similarity).


ensembl_gene_id: ENSPPYP00000003293
symbol: SHLD2
gene_biotype: protein_coding
description:
  Shieldin complex subunit 2; Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection. Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres.


ensembl_gene_id: ENSPPYP00000003298
symbol: DHTKD1
gene_biotype: protein_coding
description:
  Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial; The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).


ensembl_gene_id: ENSPPYP00000003312
symbol: MTG1
gene_biotype: protein_coding
description:
  Mitochondrial GTPase 1; Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays mitochondrial GTPase activity; Belongs to the TRAFAC class YlqF/YawG GTPase family. MTG1 subfamily.


ensembl_gene_id: ENSPPYP00000003327
symbol: B4GALNT4
gene_biotype: protein_coding
description:
  Beta-1,4-N-acetylgalactosaminyltransferase; Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'- diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans.


ensembl_gene_id: ENSPPYP00000003350
symbol: TALDO1
gene_biotype: protein_coding
description:
  Transaldolase; Transaldolase is important for the balance of metabolites in the pentose-phosphate pathway.


ensembl_gene_id: ENSPPYP00000003354
symbol: SLC25A22
gene_biotype: protein_coding
description:
  Mitochondrial glutamate carrier 1; Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+) (By similarity); Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPPYP00000003357
symbol: RPLP2
gene_biotype: protein_coding
description:
  Ribosomal protein lateral stalk subunit P2; Belongs to the eukaryotic ribosomal protein P1/P2 family.


ensembl_gene_id: ENSPPYP00000003363
symbol: CHID1
gene_biotype: protein_coding
description:
  Chitinase domain-containing protein 1; Saccharide- and LPS-binding protein with possible roles in pathogen sensing and endotoxin neutralization. Ligand-binding specificity relates to the length of the oligosaccharides, with preference for chitotetraose (in vitro) (By similarity).


ensembl_gene_id: ENSPPYP00000003393
symbol: INS-IGF2
gene_biotype: protein_coding
description:
  INS isoform 4; Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver.


ensembl_gene_id: ENSPPYP00000003421
symbol: NADSYN1
gene_biotype: protein_coding
description:
  Glutamine-dependent NAD(+) synthetase; In the C-terminal section; belongs to the NAD synthetase family.


ensembl_gene_id: ENSPPYP00000003427
symbol: FADD
gene_biotype: protein_coding
description:
  FAS-associated death domain protein; Apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated Fas (CD95) or TNFR-1 receptors. The resulting aggregate called the death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation. Active caspase-8 initiates the subsequent cascade of caspases mediating apoptosis. Involved in interferon-mediated antiviral immune response, playing a role in the positive regulation of interferon signaling.


ensembl_gene_id: ENSPPYP00000003434
symbol: CCND1
gene_biotype: protein_coding
description:
  G1/S-specific cyclin-D1; Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. A [...]


ensembl_gene_id: ENSPPYP00000003450
symbol: TCIRG1
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit a; Essential component of the vacuolar proton pump (V-ATPase), a multimeric enzyme that catalyzes the translocation of protons across the membranes. Required for assembly and activity of the V-ATPase.


ensembl_gene_id: ENSPPYP00000003451
symbol: NDUFS8
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).


ensembl_gene_id: ENSPPYP00000003460
symbol: GSTP1
gene_biotype: protein_coding
description:
  Glutathione S-transferase P; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Regulates negatively CDK5 activity via p25/p35 translocation to prevent neurodegeneration (By similarity); Belongs to the GST superfamily. Pi family.


ensembl_gene_id: ENSPPYP00000003469
symbol: CORO1B
gene_biotype: protein_coding
description:
  Coronin-1B; Regulates leading edge dynamics and cell motility in fibroblasts. May be involved in cytokinesis and signal transduction (By similarity); Belongs to the WD repeat coronin family.


ensembl_gene_id: ENSPPYP00000003470
symbol: RPS6KB2
gene_biotype: protein_coding
description:
  Ribosomal protein S6 kinase; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily.


ensembl_gene_id: ENSPPYP00000003482
symbol: PC
gene_biotype: protein_coding
description:
  Pyruvate carboxylase; Catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second.


ensembl_gene_id: ENSPPYP00000003492
symbol: RBM14
gene_biotype: protein_coding
description:
  RNA-binding protein 14; May function as a nuclear receptor coactivator, enhancing transcription through other coactivators such as NCOA6 and CITED1. Regulates centriole biogenesis by suppressing the formation of aberrant centriolar protein complexes in the cytoplasm and thus preserving mitotic spindle integrity. Prevents the formation of the STIL-CENPJ complex (which can induce the formation of aberrant centriolar protein complexes) by interfering with the interaction of STIL with CENPJ. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the  [...]


ensembl_gene_id: ENSPPYP00000003501
symbol: PELI3
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase pellino homolog; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.


ensembl_gene_id: ENSPPYP00000003507
symbol: RAB1B
gene_biotype: protein_coding
description:
  Ras-related protein Rab-1B; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). Plays a role in the initial events of the autophagic vacuole development which take place at specialized regions of the endoplasmic reticulum (By similarity). Regulates  [...]


ensembl_gene_id: ENSPPYP00000003516
symbol: BANF1
gene_biotype: protein_coding
description:
  Barrier-to-autointegration factor, N-terminally processed; Plays fundamental roles in nuclear assembly, chromatin organization, gene expression and gonad development. May potently compress chromatin structure and be involved in membrane recruitment and chromatin decondensation during nuclear assembly. Contains 2 non- specific dsDNA-binding sites which may promote DNA cross-bridging. Belongs to the BAF family.


ensembl_gene_id: ENSPPYP00000003532
symbol: KAT5
gene_biotype: protein_coding
description:
  Histone acetyltransferase KAT5; Catalytic subunit of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome-DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replica [...]


ensembl_gene_id: ENSPPYP00000003554
symbol: POLA2
gene_biotype: protein_coding
description:
  DNA polymerase alpha subunit B; Accessory subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis.


ensembl_gene_id: ENSPPYP00000003556
symbol: CAPN1
gene_biotype: protein_coding
description:
  Calpain-1 catalytic subunit; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.


ensembl_gene_id: ENSPPYP00000003560
symbol: MRPL49
gene_biotype: protein_coding
description:
  39S ribosomal protein L49, mitochondrial; Belongs to the mitochondrion-specific ribosomal protein mL49 family.


ensembl_gene_id: ENSPPYP00000003578
symbol: EHD1
gene_biotype: protein_coding
description:
  EH domain-containing protein 1; ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth. Plays a role in myoblast fusion. Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing. Plays a role in the formation of the ciliary v [...]


ensembl_gene_id: ENSPPYP00000003581
symbol: MAP4K2
gene_biotype: protein_coding
description:
  Non-specific serine/threonine protein kinase; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.


ensembl_gene_id: ENSPPYP00000003583
symbol: PYGM
gene_biotype: protein_coding
description:
  Alpha-1,4 glucan phosphorylase; Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.


ensembl_gene_id: ENSPPYP00000003590
symbol: PRDX5
gene_biotype: protein_coding
description:
  Peroxiredoxin; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides; Belongs to the peroxiredoxin family. Prx5 subfamily.


ensembl_gene_id: ENSPPYP00000003592
symbol: KCNK4
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 4; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSPPYP00000003595
symbol: PLCB3
gene_biotype: protein_coding
description:
  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes.


ensembl_gene_id: ENSPPYP00000003614
symbol: RTN3
gene_biotype: protein_coding
description:
  Reticulon-3; May be involved in membrane trafficking in the early secretory pathway. Inhibits BACE1 activity and amyloid precursor protein processing. May induce caspase-8 cascade and apoptosis. May favor BCL2 translocation to the mitochondria upon endoplasmic reticulum stress. Induces the formation of endoplasmic reticulum tubules (By similarity).


ensembl_gene_id: ENSPPYP00000003622
symbol: SLC22A24
gene_biotype: protein_coding
description:
  Steroid transmembrane transporter SLC22A24; Steroid transmembrane transporter that functions in the reabsorption of conjugated steroids in the kidney and is involved in steroid homeostasis; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.


ensembl_gene_id: ENSPPYP00000003623
symbol: SLC22A8
gene_biotype: protein_coding
description:
  Solute carrier family 22 member 8; Plays an important role in the excretion/detoxification of endogenous and exogenous organic anions, especially from the brain and kidney; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.


ensembl_gene_id: ENSPPYP00000003625
symbol: SLC22A6
gene_biotype: protein_coding
description:
  Solute carrier family 22 member 6; Involved in the renal elimination of endogenous and exogenous organic anions. Functions as organic anion exchanger when the uptake of one molecule of organic anion is coupled with an efflux of one molecule of endogenous dicarboxylic acid (glutarate, ketoglutarate, etc). Mediates the sodium-independent uptake of p-aminohippurate (PAH), 2,3- dimercapto-1-propanesulfonic acid (DMPS), cidofovir, adefovir, 9-(2- phosphonylmethoxyethyl) guanine (PMEG), 9-(2-phosphonylmethoxyethyl) diaminopurine (PMEDAP), ochratoxin (OTA), acyclovir (ACV), 3'-azido- 3-'deoxy [...]


ensembl_gene_id: ENSPPYP00000003626
symbol: CHRM1
gene_biotype: protein_coding
description:
  Muscarinic acetylcholine receptor M1; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover.


ensembl_gene_id: ENSPPYP00000003631
symbol: NXF1
gene_biotype: protein_coding
description:
  Nuclear RNA export factor 1; Involved in the nuclear export of mRNA species bearing retroviral constitutive transport elements (CTE) and in the export of mRNA from the nucleus to the cytoplasm (TAP/NFX1 pathway). The NXF1- NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 components of the TREX complex. ALYREF/THOC4-bound mRNA is thought to be transferred to the NXF1-NXT1 heterodimer for export. Also involved in nuclear export of m6A- containing mRNAs: interaction between SRSF3 and YTHDC1 facilitates m6A- containing mRNA-binding to both [...]


ensembl_gene_id: ENSPPYP00000003639
symbol: GNG3
gene_biotype: protein_coding
description:
  Guanine nucleotide-binding protein subunit gamma; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.


ensembl_gene_id: ENSPPYP00000003646
symbol: CSKMT
gene_biotype: protein_coding
description:
  Citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial; Protein-lysine methyltransferase that selectively trimethylates citrate synthase (CS) in mitochondria. Seems to conduct trimethylation in a highly distributive manner rather than in a processive manner, and thus introduces a single methly group per binding event.


ensembl_gene_id: ENSPPYP00000003663
symbol: FTH1
gene_biotype: protein_coding
description:
  Ferritin heavy chain, N-terminally processed; Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney.


ensembl_gene_id: ENSPPYP00000003667
symbol: FADS2
gene_biotype: protein_coding
description:
  Acyl-CoA 6-desaturase; Acts as a fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 6 of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleate (GLA) (18:3n-6) and stearidonate (18:4n-3), respectively (By similarity). Subsequently, in the biosynthetic [...]


ensembl_gene_id: ENSPPYP00000003669
symbol: FEN1
gene_biotype: protein_coding
description:
  Flap endonuclease 1; Structure-specific nuclease with 5'-flap endonuclease and 5'- 3' exonuclease activities involved in DNA replication and repair. During DNA replication, cleaves the 5'-overhanging flap structure that is generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. It enters the flap from the 5'-end and then tracks to cleave the flap base, leaving a nick for ligation. Also involved in the long patch base excision repair (LP-BER) pathway, by cleaving within the apurinic/apyrimidinic (AP) site- terminated flap. Acts as  [...]


ensembl_gene_id: ENSPPYP00000003677
symbol: SDHAF2
gene_biotype: protein_coding
description:
  Succinate dehydrogenase assembly factor 2, mitochondrial; Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer.


ensembl_gene_id: ENSPPYP00000003683
symbol: DDB1
gene_biotype: protein_coding
description:
  DNA damage-binding protein 1; Required for DNA repair. Binds to DDB2 to form the UV-damaged DNA-binding protein complex (the UV-DDB complex). The UV-DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiqui [...]


ensembl_gene_id: ENSPPYP00000003686
symbol: VPS37C
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 37C; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation (By similarity); Belongs to the VPS37 family.


ensembl_gene_id: ENSPPYP00000003697
symbol: MS4A10
gene_biotype: protein_coding
description:
  Membrane-spanning 4-domains subfamily A member 10; May be involved in signal transduction as a component of a multimeric receptor complex; Belongs to the MS4A family.


ensembl_gene_id: ENSPPYP00000003720
symbol: PATL1
gene_biotype: protein_coding
description:
  Protein PAT1 homolog 1; RNA-binding protein involved in deadenylation-dependent decapping of mRNAs, leading to the degradation of mRNAs. Acts as a scaffold protein that connects deadenylation and decapping machinery. Required for cytoplasmic mRNA processing body (P-body) assembly (By similarity); Belongs to the PAT1 family.


ensembl_gene_id: ENSPPYP00000003725
symbol: MPEG1
gene_biotype: protein_coding
description:
  Macrophage-expressed gene 1 protein; Plays a key role in the innate immune response following bacterial infection by polymerizing and inserting into the bacterial surface to form pores (By similarity). By breaching the surface of phagocytosed bacteria, allows antimicrobial effectors to enter the bacterial periplasmic space and degrade bacterial proteins such as superoxide dismutase sodC which contributes to bacterial virulence (By similarity). Shows antibacterial activity against a wide spectrum of Gram-positive, Gram-negative and acid-fast bacteria (By similarity). Reduces the viabili [...]


ensembl_gene_id: ENSPPYP00000003731
symbol: GLYAT
gene_biotype: protein_coding
description:
  Glycine N-acyltransferase; Mitochondrial acyltransferase which transfers an acyl group to the N-terminus of glycine and glutamine, although much less efficiently. Can conjugate a multitude of substrates to form a variety of N-acylglycines, thereby detoxify xenobiotics, such as benzoic acid or salicylic acid, and endogenous organic acids, such as isovaleric acid.


ensembl_gene_id: ENSPPYP00000003751
symbol: MED19
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 19; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPPYP00000003752
symbol: ZDHHC5
gene_biotype: protein_coding
description:
  Palmitoyltransferase ZDHHC5; Palmitoyl acyltransferase for the G-protein coupled receptor SSTR5 and for FLOT2; Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily.


ensembl_gene_id: ENSPPYP00000003754
symbol: CLP1
gene_biotype: protein_coding
description:
  Polyribonucleotide 5'-hydroxyl-kinase Clp1; Polynucleotide kinase that can phosphorylate the 5'-hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA:RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA:RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3'-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5'-terminus of the tRNA 3'-exon during tRNA splicing; thi [...]


ensembl_gene_id: ENSPPYP00000003778
symbol: MTCH2
gene_biotype: protein_coding
description:
  Mitochondrial carrier homolog 2; The substrate transported is not yet known. Induces mitochondrial depolarization (By similarity).


ensembl_gene_id: ENSPPYP00000003787
symbol: CELF1
gene_biotype: protein_coding
description:
  CUGBP Elav-like family member 1; RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon bu [...]


ensembl_gene_id: ENSPPYP00000003801
symbol: ARFGAP2
gene_biotype: protein_coding
description:
  ADP-ribosylation factor GTPase-activating protein 2; GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Implicated in coatomer-mediated protein transport between the Golgi complex and the endoplasmic reticulum. Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes (By similarity).


ensembl_gene_id: ENSPPYP00000003807
symbol: F2
gene_biotype: protein_coding
description:
  Activation peptide fragment 1; Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing (By similarity).


ensembl_gene_id: ENSPPYP00000003811
symbol: ATG13
gene_biotype: protein_coding
description:
  Autophagy-related protein 13; Autophagy factor required for autophagosome formation and mitophagy. Target of the TOR kinase signaling pathway that regulates autophagy through the control of the phosphorylation status of ATG13 and ULK1, and the regulation of the ATG13-ULK1-RB1CC1 complex. Through its regulation of ULK1 activity, plays a role in the regulation of the kinase activity of mTORC1 and cell proliferation (By similarity).


ensembl_gene_id: ENSPPYP00000003839
symbol: API5
gene_biotype: protein_coding
description:
  Apoptosis inhibitor 5; Antiapoptotic factor that may have a role in protein assembly. Negatively regulates ACIN1. By binding to ACIN1, it suppresses ACIN1 cleavage from CASP3 and ACIN1-mediated DNA fragmentation. Also known to efficiently suppress E2F1-induced apoptosis (By similarity); Belongs to the API5 family.


ensembl_gene_id: ENSPPYP00000003851
symbol: TRIM44
gene_biotype: protein_coding
description:
  Tripartite motif-containing protein 44; May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17 (By similarity). Is a negative regulator of PAX6 expression (By similarity).


ensembl_gene_id: ENSPPYP00000003852
symbol: PAMR1
gene_biotype: protein_coding
description:
  Inactive serine protease PAMR1; May play a role in regeneration of skeletal muscle. Belongs to the peptidase S1 family.


ensembl_gene_id: ENSPPYP00000003860
symbol: APIP
gene_biotype: protein_coding
description:
  Methylthioribulose-1-phosphate dehydratase; Catalyzes the dehydration of methylthioribulose-1-phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P). Functions in the methionine salvage pathway, which plays a key role in cancer, apoptosis, microbial proliferation and inflammation. May inhibit the CASP1-related inflammatory response (pyroptosis), the CASP9-dependent apoptotic pathway and the cytochrome c-dependent and APAF1-mediated cell death; Belongs to the aldolase class II family. MtnB subfamily.


ensembl_gene_id: ENSPPYP00000003867
symbol: NAT10
gene_biotype: protein_coding
description:
  RNA cytidine acetyltransferase; RNA cytidine acetyltransferase with specificity toward both 18S rRNA and tRNAs. Catalyzes the formation of N(4)-acetylcytidine (ac4C) in 18S rRNA. Required for early nucleolar cleavages of precursor rRNA at sites A0, A1 and A2 during 18S rRNA synthesis. Catalyzes the formation of ac4C in serine and leucine tRNAs. Requires the tRNA- binding adapter protein THUMPD1 for full tRNA acetyltransferase activity but not for 18S rRNA acetylation.


ensembl_gene_id: ENSPPYP00000003871
symbol: CD59
gene_biotype: protein_coding
description:
  CD59 glycoprotein; Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore (By similarity).


ensembl_gene_id: ENSPPYP00000003876
symbol: CSTF3
gene_biotype: protein_coding
description:
  Cleavage stimulation factor subunit 3; One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs.


ensembl_gene_id: ENSPPYP00000003882
symbol: EIF3M
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit M; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSPPYP00000003897
symbol: MPPED2
gene_biotype: protein_coding
description:
  Metallophosphoesterase MPPED2; Displays low metallophosphoesterase activity (in vitro). May play a role in the development of the nervous system. Belongs to the UPF0046 family.


ensembl_gene_id: ENSPPYP00000003901
symbol: METTL15
gene_biotype: protein_coding
description:
  Probable methyltransferase-like protein 15; Probable S-adenosyl-L-methionine-dependent methyltransferase.


ensembl_gene_id: ENSPPYP00000003904
symbol: BDNF
gene_biotype: protein_coding
description:
  Brain-derived neurotrophic factor; During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS.


ensembl_gene_id: ENSPPYP00000003906
symbol: LIN7C
gene_biotype: protein_coding
description:
  Protein lin-7 homolog C; Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may funct [...]


ensembl_gene_id: ENSPPYP00000003911
symbol: BBOX1
gene_biotype: protein_coding
description:
  Gamma-butyrobetaine dioxygenase; Catalyzes the formation of L-carnitine from gamma- butyrobetaine; Belongs to the gamma-BBH/TMLD family.


ensembl_gene_id: ENSPPYP00000003927
symbol: PRMT3
gene_biotype: protein_coding
description:
  PRMT3 isoform 3; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSPPYP00000003933
symbol: ZDHHC13
gene_biotype: protein_coding
description:
  Palmitoyltransferase ZDHHC13; Palmitoyltransferase for HTT and GAD2. May play a role in Mg(2+) transport.


ensembl_gene_id: ENSPPYP00000003952
symbol: HPS5
gene_biotype: protein_coding
description:
  Hermansky-Pudlak syndrome 5 protein homolog; May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules.


ensembl_gene_id: ENSPPYP00000003961
symbol: MYOD1
gene_biotype: protein_coding
description:
  Myogenic factor; Induces fibroblasts to differentiate into myoblasts. Acts as a transcriptional activator that promotes transcription of muscle- specific target genes and plays a role in muscle differentiation.


ensembl_gene_id: ENSPPYP00000003966
symbol: NCR3LG1
gene_biotype: protein_coding
description:
  Natural cytotoxicity triggering receptor 3 ligand 1; Triggers NCR3-dependent natural killer cell activation.


ensembl_gene_id: ENSPPYP00000003968
symbol: PIK3C2A
gene_biotype: protein_coding
description:
  Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha; Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. Has a role in several intracellular trafficking events. Functions in insulin signaling and secretion. Required for translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane and glucose uptake in response to insulin-mediated RHOQ activation. Regulates insulin secretion through two different mechanisms: involved in glucose-induced insulin secretion dow [...]


ensembl_gene_id: ENSPPYP00000003973
symbol: SOX6
gene_biotype: protein_coding
description:
  Transcription factor SOX-6; Transcriptional activator. Binds specifically to the DNA sequence 5'-AACAAT-3'. Plays a key role in several developmental processes, including neurogenesis and skeleton formation (By similarity).


ensembl_gene_id: ENSPPYP00000003979
symbol: PSMA1
gene_biotype: protein_coding
description:
  Proteasome subunit alpha type-1; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pr [...]


ensembl_gene_id: ENSPPYP00000003980
symbol: COPB1
gene_biotype: protein_coding
description:
  Coatomer subunit beta; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also infl [...]


ensembl_gene_id: ENSPPYP00000003982
symbol: FAR1
gene_biotype: protein_coding
description:
  Fatty acyl-CoA reductase 1; Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols. It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols. In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis.


ensembl_gene_id: ENSPPYP00000003984
symbol: PTH
gene_biotype: protein_coding
description:
  Parathyroid hormone; PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion; Belongs to the parathyroid hormone family.


ensembl_gene_id: ENSPPYP00000003985
symbol: BTBD10
gene_biotype: protein_coding
description:
  BTB/POZ domain-containing protein 10; Plays a major role as an activator of AKT family members by inhibiting PPP2CA-mediated dephosphorylation, thereby keeping AKTs activated. Plays a role in preventing motor neuronal death and in accelerating the growth of pancreatic beta cells.


ensembl_gene_id: ENSPPYP00000003988
symbol: ARNTL
gene_biotype: protein_coding
description:
  Aryl hydrocarbon receptor nuclear translocator-like protein 1; Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressur [...]


ensembl_gene_id: ENSPPYP00000004000
symbol: EIF4G2
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 4 gamma 2; Appears to play a role in the switch from cap-dependent to IRES-mediated translation during mitosis, apoptosis and viral infection. Cleaved by some caspases and viral proteases (By similarity); Belongs to the eukaryotic initiation factor 4G family.


ensembl_gene_id: ENSPPYP00000004031
symbol: EIF3F
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit F; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSPPYP00000004043
symbol: ZNF215
gene_biotype: protein_coding
description:
  Zinc finger protein 215; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000004053
symbol: TPP1
gene_biotype: protein_coding
description:
  Tripeptidyl-peptidase 1; Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus (By similarity).


ensembl_gene_id: ENSPPYP00000004055
symbol: TAF10
gene_biotype: protein_coding
description:
  Transcription initiation factor TFIID subunit 10; TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors; Belongs to the TAF10 family.


ensembl_gene_id: ENSPPYP00000004057
symbol: RRP8
gene_biotype: protein_coding
description:
  Ribosomal RNA-processing protein 8; Essential component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone- modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. In the complex, RRP8 binds to H3K9me2 and pr [...]


ensembl_gene_id: ENSPPYP00000004060
symbol: TIMM10B
gene_biotype: protein_coding
description:
  Mitochondrial import inner membrane translocase subunit Tim10 B; Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin-pore translocase that uses the membrane potential as the external driving force. In the TIM22 complex, it may act as a docking point for the soluble 70 kDa complex that guides the target proteins in transit through the aqueous mitochondrial intermembrane space.


ensembl_gene_id: ENSPPYP00000004063
symbol: HPX
gene_biotype: protein_coding
description:
  Hemopexin; Binds heme and transports it to the liver for breakdown and iron recovery, after which the free hemopexin returns to the circulation.


ensembl_gene_id: ENSPPYP00000004071
symbol: FAM160A2
gene_biotype: protein_coding
description:
  FTS and Hook-interacting protein; Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex) (By similarity); Belongs to the UPF0518 family.


ensembl_gene_id: ENSPPYP00000004088
symbol: TRIM5
gene_biotype: protein_coding
description:
  Tripartite motif-containing protein 5; Capsid-specific restriction factor that prevents infection from non-host-adapted retroviruses. Blocks viral replication early in the life cycle, after viral entry but before reverse transcription. In addition to acting as a capsid-specific restriction factor, also acts as a pattern recognition receptor that activates innate immune signaling in response to the retroviral capsid lattice. Binding to the viral capsid triggers its E3 ubiquitin ligase activity, and in concert with the heterodimeric ubiquitin conjugating enzyme complex UBE2V1- UBE2N (als [...]


ensembl_gene_id: ENSPPYP00000004146
symbol: RRM1
gene_biotype: protein_coding
description:
  Ribonucleoside-diphosphate reductase large subunit; Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides (By similarity).


ensembl_gene_id: ENSPPYP00000004168
symbol: LAMTOR1
gene_biotype: protein_coding
description:
  Ragulator complex protein LAMTOR1; As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V- ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. LAMTOR1 is directly responsible for anchoring the Ragulat [...]


ensembl_gene_id: ENSPPYP00000004186
symbol: RAB6A
gene_biotype: protein_coding
description:
  Ras-related protein Rab-6A; Protein transport. Regulator of membrane traffic from the Golgi apparatus towards the endoplasmic reticulum (ER). Involved in COPI-independent retrograde transport from the Golgi to the ER (By similarity); Belongs to the small GTPase superfamily. Rab family.


ensembl_gene_id: ENSPPYP00000004192
symbol: UCP2
gene_biotype: protein_coding
description:
  Mitochondrial uncoupling protein 2; UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation from ATP synthesis. As a result, energy is dissipated in the form of heat (By similarity).


ensembl_gene_id: ENSPPYP00000004196
symbol: PPME1
gene_biotype: protein_coding
description:
  Protein phosphatase methylesterase 1; Demethylates proteins that have been reversibly carboxymethylated. Demethylates PPP2CB (in vitro) and PPP2CA. Binding to PPP2CA displaces the manganese ion and inactivates the enzyme (By similarity); Belongs to the AB hydrolase superfamily.


ensembl_gene_id: ENSPPYP00000004199
symbol: PGM2L1
gene_biotype: protein_coding
description:
  Glucose 1,6-bisphosphate synthase; Glucose 1,6-bisphosphate synthase using 1,3- bisphosphoglycerate as a phosphate donor and a series of 1-phosphate sugars as acceptors, including glucose 1-phosphate, mannose 1- phosphate, ribose 1-phosphate and deoxyribose 1-phosphate. 5 or 6- phosphosugars are bad substrates, with the exception of glucose 6- phosphate. Also synthesizes ribose 1,5-bisphosphate. Has only low phosphopentomutase and phosphoglucomutase activities (By similarity).


ensembl_gene_id: ENSPPYP00000004201
symbol: LIPT2
gene_biotype: protein_coding
description:
  Putative lipoyltransferase 2, mitochondrial; Catalyzes the transfer of endogenously produced octanoic acid from octanoyl-acyl-carrier-protein onto the lipoyl domains of lipoate- dependent enzymes. Lipoyl-ACP can also act as a substrate although octanoyl-ACP is likely to be the physiological substrate. Belongs to the LipB family.


ensembl_gene_id: ENSPPYP00000004206
symbol: SPCS2
gene_biotype: protein_coding
description:
  Signal peptidase complex subunit 2; Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.


ensembl_gene_id: ENSPPYP00000004215
symbol: RPS3
gene_biotype: protein_coding
description:
  40S ribosomal protein S3; Involved in translation as a component of the 40S small ribosomal subunit. Has endonuclease activity and plays a role in repair of damaged DNA. Cleaves phosphodiester bonds of DNAs containing altered bases with broad specificity and cleaves supercoiled DNA more efficiently than relaxed DNA. Displays high binding affinity for 7,8- dihydro-8-oxoguanine (8-oxoG), a common DNA lesion caused by reactive oxygen species (ROS). Has also been shown to bind with similar affinity to intact and damaged DNA. Stimulates the N-glycosylase activity of the base excision protei [...]


ensembl_gene_id: ENSPPYP00000004218
symbol: SERPINH1
gene_biotype: protein_coding
description:
  Serpin H1; Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen (By similarity). Belongs to the serpin family.


ensembl_gene_id: ENSPPYP00000004228
symbol: LRRC32
gene_biotype: protein_coding
description:
  Transforming growth factor beta activator LRRC32; Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta (By similarity). Able to outcompete LTBP1 for binding to LAP regulatory chain of TGF-beta (By similarity). Controls activation of TGF-beta-1 (TGFB1) on the surface of activa [...]


ensembl_gene_id: ENSPPYP00000004239
symbol: AQP11
gene_biotype: protein_coding
description:
  Aquaporin; Aquaporins facilitate the transport of water and small neutral solutes across cell membranes.


ensembl_gene_id: ENSPPYP00000004240
symbol: CLNS1A
gene_biotype: protein_coding
description:
  Methylosome subunit pICln; Involved in both the assembly of spliceosomal snRNPs and the methylation of Sm proteins. Chaperone that regulates the assembly of spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (By similarity). Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cyto [...]


ensembl_gene_id: ENSPPYP00000004261
symbol: PRCP
gene_biotype: protein_coding
description:
  Lysosomal Pro-X carboxypeptidase; Cleaves C-terminal amino acids linked to proline in peptides such as angiotensin II, III and des-Arg9-bradykinin. This cleavage occurs at acidic pH, but enzymatic activity is retained with some substrates at neutral pH (By similarity); Belongs to the peptidase S28 family.


ensembl_gene_id: ENSPPYP00000004292
symbol: CTSC
gene_biotype: protein_coding
description:
  Dipeptidyl peptidase 1 exclusion domain chain; Thiol protease. Has dipeptidylpeptidase activity. Can act as both an exopeptidase and endopeptidase. Can degrade glucagon. Plays a role in the generation of cytotoxic lymphocyte effector function (By similarity).


ensembl_gene_id: ENSPPYP00000004298
symbol: NOX4
gene_biotype: protein_coding
description:
  NADPH oxidase 4; Constitutive NADPH oxidase which generates superoxide intracellularly upon formation of a complex with CYBA/p22phox. Regulates signaling cascades probably through phosphatases inhibition. May function as an oxygen sensor regulating the KCNK3/TASK-1 potassium channel and HIF1A activity. May regulate insulin signaling cascade. May play a role in apoptosis, bone resorption and lipolysaccharide-mediated activation of NFKB (By similarity).


ensembl_gene_id: ENSPPYP00000004308
symbol: CHORDC1
gene_biotype: protein_coding
description:
  Cysteine and histidine-rich domain-containing protein 1; Regulates centrosome duplication, probably by inhibiting the kinase activity of ROCK2. Proposed to act as co-chaperone for HSP90. May play a role in the regulation of NOD1 via a HSP90 chaperone complex. In vitro, has intrinsic chaperone activity. This function may be achieved by inhibiting association of ROCK2 with NPM1. Involved in stress response. Prevents tumorigenesis (By similarity).


ensembl_gene_id: ENSPPYP00000004318
symbol: TAF1D
gene_biotype: protein_coding
description:
  TATA box-binding protein-associated factor RNA polymerase I subunit D; Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits (By similarity).


ensembl_gene_id: ENSPPYP00000004323
symbol: PANX1
gene_biotype: protein_coding
description:
  Pannexin-1; Structural component of the gap junctions and the hemichannels. May play a role as a Ca(2+)-leak channel to regulate ER Ca(2+) homeostasis; Belongs to the pannexin family.


ensembl_gene_id: ENSPPYP00000004330
symbol: CWC15
gene_biotype: protein_coding
description:
  Spliceosome-associated protein CWC15 homolog; Involved in pre-mRNA splicing as component of the spliceosome. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre- mRNA splicing.


ensembl_gene_id: ENSPPYP00000004337
symbol: MTMR2
gene_biotype: protein_coding
description:
  Myotubularin-related protein 2; Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3- phosphate and phosphatidylinositol 3,5-bisphosphate (By similarity). Binds phosphatidylinositol 4-phosphate, phosphatidylinositol 5- phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Stabilizes SBF2/MTMR13 at the membranes. Specifically in peripheral nerves, stabilizes SBF2/MTMR13 protein (By similarity).


ensembl_gene_id: ENSPPYP00000004369
symbol: PTMA
gene_biotype: protein_coding
description:
  Prothymosin alpha, N-terminally processed; Prothymosin alpha may mediate immune function by conferring resistance to certain opportunistic infections; Belongs to the pro/parathymosin family.


ensembl_gene_id: ENSPPYP00000004370
symbol: PDGFD
gene_biotype: protein_coding
description:
  Platelet-derived growth factor D, receptor-binding form; Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Plays an important role in wound healing. Induces macrophage recruitment, increased interstitial pressure, and blood vessel maturation during angiogenesis. Can initiate events that lead to a mesangial proliferative glomerulonephritis, including influx of monocytes and macrophages and production of extracellular matrix (By similarity).


ensembl_gene_id: ENSPPYP00000004386
symbol: AASDHPPT
gene_biotype: protein_coding
description:
  L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase; Catalyzes the post-translational modification of target proteins by phosphopantetheine. Can transfer the 4'-phosphopantetheine moiety from coenzyme A to a serine residue of a broad range of acceptors, such as the acyl carrier domain of FASN (in vitro) (By similarity).


ensembl_gene_id: ENSPPYP00000004390
symbol: ELMOD1
gene_biotype: protein_coding
description:
  ELMO domain-containing protein 1; Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family.


ensembl_gene_id: ENSPPYP00000004398
symbol: CUL5
gene_biotype: protein_coding
description:
  Cullin-5; Core component of multiple SCF-like ECS (Elongin BC-Cullin 2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component. ECS(SOCS1) seems to direct ubiquitination of JAK2. Seems to be involved in proteosomal degradation of p53/TP53 stimula [...]


ensembl_gene_id: ENSPPYP00000004403
symbol: ATM
gene_biotype: protein_coding
description:
  Serine-protein kinase ATM; Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]- Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and mo [...]


ensembl_gene_id: ENSPPYP00000004424
symbol: SIK2
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase SIK2; Phosphorylates 'Ser-794' of IRS1 in insulin-stimulated adipocytes, potentially modulating the efficiency of insulin signal transduction. Inhibits CREB activity by phosphorylating and repressing TORCs, the CREB-specific coactivators (By similarity).


ensembl_gene_id: ENSPPYP00000004431
symbol: CRYAB
gene_biotype: protein_coding
description:
  Alpha-crystallin B chain; May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions.


ensembl_gene_id: ENSPPYP00000004435
symbol: DLAT
gene_biotype: protein_coding
description:
  Acetyltransferase component of pyruvate dehydrogenase complex; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2).


ensembl_gene_id: ENSPPYP00000004440
symbol: SDHD
gene_biotype: protein_coding
description:
  Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial; Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q); Belongs to the CybS family.


ensembl_gene_id: ENSPPYP00000004441
symbol: IL18
gene_biotype: protein_coding
description:
  Interleukin-18; A proinflammatory cytokine primarily involved in polarized T- helper 1 (Th1) cell and natural killer (NK) cell immune responses. Upon binding to IL18R1 and IL18RAP, forms a signaling ternary complex which activates NF-kappa-B, triggering synthesis of inflammatory mediators. Synergizes with IL12/interleukin-12 to induce IFNG synthesis from T- helper 1 (Th1) cells and natural killer (NK) cells. Belongs to the IL-1 family.


ensembl_gene_id: ENSPPYP00000004443
symbol: BCO2
gene_biotype: protein_coding
description:
  Beta,beta-carotene 9',10'-oxygenase; Asymmetrically cleaves beta-carotene at the 9',10' double bond resulting in the formation of beta-apo-10'-carotenal and beta- ionone. Besides beta-carotene, lycopene is also oxidatively cleaved. The apocarotenals formed by this enzyme may be the precursors for the biosynthesis of retinoic acid or exert unknown physiological effects (By similarity); Belongs to the carotenoid oxygenase family.


ensembl_gene_id: ENSPPYP00000004445
symbol: PTS
gene_biotype: protein_coding
description:
  6-pyruvoyl tetrahydrobiopterin synthase; Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin (By similarity).


ensembl_gene_id: ENSPPYP00000004454
symbol: ZW10
gene_biotype: protein_coding
description:
  Centromere/kinetochore protein zw10 homolog; Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (By similarity).


ensembl_gene_id: ENSPPYP00000004472
symbol: APOA1
gene_biotype: protein_coding
description:
  Truncated apolipoprotein A-I; Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility (By similarity).


ensembl_gene_id: ENSPPYP00000004499
symbol: MPZL2
gene_biotype: protein_coding
description:
  Myelin protein zero-like protein 2; Mediates homophilic cell-cell adhesion; Belongs to the myelin P0 protein family.


ensembl_gene_id: ENSPPYP00000004503
symbol: UBE4A
gene_biotype: protein_coding
description:
  Ubiquitin conjugation factor E4 A; Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase. Mediates 'Lys-48'-linked polyubiquitination of substrates.


ensembl_gene_id: ENSPPYP00000004504
symbol: ATP5MG
gene_biotype: protein_coding
description:
  ATP synthase subunit g, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the cent [...]


ensembl_gene_id: ENSPPYP00000004505
symbol: KMT2A
gene_biotype: protein_coding
description:
  Histone-lysine N-methyltransferase; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.


ensembl_gene_id: ENSPPYP00000004511
symbol: ARCN1
gene_biotype: protein_coding
description:
  Coatomer subunit delta; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also inf [...]


ensembl_gene_id: ENSPPYP00000004516
symbol: DDX6
gene_biotype: protein_coding
description:
  Probable ATP-dependent RNA helicase DDX6; In the process of mRNA degradation, may play a role in mRNA decapping.


ensembl_gene_id: ENSPPYP00000004523
symbol: TRAPPC4
gene_biotype: protein_coding
description:
  Trafficking protein particle complex subunit 4; May play a role in vesicular transport from endoplasmic reticulum to Golgi.


ensembl_gene_id: ENSPPYP00000004530
symbol: VPS11
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 11 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes. Belongs to the VPS11 family.


ensembl_gene_id: ENSPPYP00000004564
symbol: HSPA8
gene_biotype: protein_coding
description:
  Heat shock cognate 71 kDa protein; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis a [...]


ensembl_gene_id: ENSPPYP00000004589
symbol: PANX3
gene_biotype: protein_coding
description:
  Pannexin; Structural component of the gap junctions and the hemichannels; Belongs to the pannexin family.


ensembl_gene_id: ENSPPYP00000004592
symbol: SIAE
gene_biotype: protein_coding
description:
  Sialate O-acetylesterase; Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid.


ensembl_gene_id: ENSPPYP00000004593
symbol: SPA17
gene_biotype: protein_coding
description:
  Sperm surface protein Sp17; Sperm surface zona pellucida binding protein. Helps to bind spermatozoa to the zona pellucida with high affinity. Might function in binding zona pellucida and carbohydrates.


ensembl_gene_id: ENSPPYP00000004611
symbol: STT3A
gene_biotype: protein_coding
description:
  Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A; Catalytic subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation [...]


ensembl_gene_id: ENSPPYP00000004647
symbol: ST14
gene_biotype: protein_coding
description:
  Suppressor of tumorigenicity 14 protein homolog; Degrades extracellular matrix. Belongs to the peptidase S1 family.


ensembl_gene_id: ENSPPYP00000004655
symbol: NCAPD3
gene_biotype: protein_coding
description:
  Condensin-2 complex subunit D3; Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis.


ensembl_gene_id: ENSPPYP00000004656
symbol: VPS26B
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 26B; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans- Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for car [...]


ensembl_gene_id: ENSPPYP00000004679
symbol: PLAAT3
gene_biotype: protein_coding
description:
  Phospholipase A and acyltransferase 3; Exhibits both phospholipase A1/2 and acyltransferase activities (By similarity). Shows phospholipase A1 (PLA1) and A2 (PLA2), catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids (By similarity). For most substrates, PLA1 activity is much higher than PLA2 activity (By similarity). Shows O-acyltransferase activity, catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid (By similarity). Shows N-acyltransferase activity, catalyzing th [...]


ensembl_gene_id: ENSPPYP00000004686
symbol: B4GAT1
gene_biotype: protein_coding
description:
  Beta-1,4-glucuronyltransferase 1; Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose- beta disaccharide primer, which is further elongated by LARGE1, during synthesis of phosphorylated O-mannosyl glycan. Phosphorylated O- mannosyl glycan is a carbohydrate is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G- like domain-containing extracellular proteins with high affinity. Required fo [...]


ensembl_gene_id: ENSPPYP00000004689
symbol: EIF1AD
gene_biotype: protein_coding
description:
  Probable RNA-binding protein EIF1AD; Plays a role into cellular response to oxidative stress. Decreases cell proliferation (By similarity).


ensembl_gene_id: ENSPPYP00000004702
symbol: B3GAT1
gene_biotype: protein_coding
description:
  Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase; Belongs to the glycosyltransferase 43 family.


ensembl_gene_id: ENSPPYP00000004719
symbol: WNT5B
gene_biotype: protein_coding
description:
  Protein Wnt-5b; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity); Belongs to the Wnt family.


ensembl_gene_id: ENSPPYP00000004723
symbol: DCP1B
gene_biotype: protein_coding
description:
  mRNA-decapping enzyme 1B; May play a role in the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. May remove the 7- methyl guanine cap structure from mRNA molecules, yielding a 5'- phosphorylated mRNA fragment and 7m-GDP (By similarity).


ensembl_gene_id: ENSPPYP00000004726
symbol: CACNA1C
gene_biotype: protein_coding
description:
  Voltage-dependent L-type calcium channel subunit alpha; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death; Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family.


ensembl_gene_id: ENSPPYP00000004733
symbol: ITFG2
gene_biotype: protein_coding
description:
  KICSTOR complex protein ITFG2; As part of the KICSTOR complex functions in the amino acid- sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose.


ensembl_gene_id: ENSPPYP00000004741
symbol: PRMT8
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase 8; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSPPYP00000004753
symbol: NDUFA9
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPPYP00000004761
symbol: NTF3
gene_biotype: protein_coding
description:
  Neurotrophin-3; Seems to promote the survival of visceral and proprioceptive sensory neurons; Belongs to the NGF-beta family.


ensembl_gene_id: ENSPPYP00000004769
symbol: TAPBPL
gene_biotype: protein_coding
description:
  Tapasin-related protein; Component of the antigen processing and presentation pathway, which binds to MHC class I coupled with beta2-microglobulin/B2M. Association between TAPBPR and MHC class I occurs in the absence of a functional peptide-loading complex (PLC). Expression seems to slow down and down-regulate MHC class I surface expression.


ensembl_gene_id: ENSPPYP00000004773
symbol: NCAPD2
gene_biotype: protein_coding
description:
  Condensin complex subunit 1; Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.


ensembl_gene_id: ENSPPYP00000004774
symbol: GAPDH
gene_biotype: protein_coding
description:
  Glyceraldehyde-3-phosphate dehydrogenase; Has both glyceraldehyde-3-phosphate dehydrogenase and nitrosylase activities, thereby playing a role in glycolysis and nuclear functions, respectively. Glyceraldehyde-3-phosphate dehydrogenase is a key enzyme in glycolysis that catalyzes the first step of the pathway by converting D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate. Modulates the organization and assembly of the cytoskeleton. Facilitates the CHP1-dependent microtubule and membrane associations through its ability to stimulate the binding of CHP1 to microtubu [...]


ensembl_gene_id: ENSPPYP00000004776
symbol: NOP2
gene_biotype: protein_coding
description:
  NOP2 isoform 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPPYP00000004784
symbol: COPS7A
gene_biotype: protein_coding
description:
  COP9 signalosome complex subunit 7a; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF- type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-de [...]


ensembl_gene_id: ENSPPYP00000004792
symbol: USP5
gene_biotype: protein_coding
description:
  Ubiquitin carboxyl-terminal hydrolase 5; Cleaves linear and branched multiubiquitin polymers with a marked preference for branched polymers. Involved in unanchored 'Lys- 48'-linked polyubiquitin disassembly. Binds linear and 'Lys-63'-linked polyubiquitin with a lower affinity (By similarity).


ensembl_gene_id: ENSPPYP00000004794
symbol: TPI1
gene_biotype: protein_coding
description:
  Triosephosphate isomerase; Triosephosphate isomerase is an extremely efficient metabolic enzyme that catalyzes the interconversion between dihydroxyacetone phosphate (DHAP) and D-glyceraldehyde-3-phosphate (G3P) in glycolysis and gluconeogenesis.


ensembl_gene_id: ENSPPYP00000004802
symbol: PTPN6
gene_biotype: protein_coding
description:
  Tyrosine-protein phosphatase non-receptor type; Belongs to the protein-tyrosine phosphatase family. Non- receptor class 2 subfamily.


ensembl_gene_id: ENSPPYP00000004803
symbol: PHB2
gene_biotype: protein_coding
description:
  Prohibitin-2; Acts as a mediator of transcriptional repression by nuclear hormone receptors via recruitment of histone deacetylases (By similarity). Functions as an estrogen receptor (ER)-selective coregulator that potentiates the inhibitory activities of antiestrogens and represses the activity of estrogens. Competes with NCOA1 for modulation of ER transcriptional activity. Probably involved in regulating mitochondrial respiration activity and in aging (By similarity). In mitochondria, regulates cytochrome-c oxidase assembly (COX) and mitochondrial respiration. Binding to sphingoid 1- [...]


ensembl_gene_id: ENSPPYP00000004809
symbol: C1R
gene_biotype: protein_coding
description:
  Complement C1r subcomponent heavy chain; C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system; Belongs to the peptidase S1 family.


ensembl_gene_id: ENSPPYP00000004814
symbol: CLSTN3
gene_biotype: protein_coding
description:
  Calsyntenin-3; May modulate calcium-mediated postsynaptic signals. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation.


ensembl_gene_id: ENSPPYP00000004827
symbol: SLC2A14
gene_biotype: protein_coding
description:
  Solute carrier family 2, facilitated glucose transporter member 3; Facilitative glucose transporter that can also mediate the uptake of various other monosaccharides across the cell membrane. Mediates the uptake of glucose, 2-deoxyglucose, galactose, mannose, xylose and fucose, and probably also dehydroascorbate. Does not mediate fructose transport; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.


ensembl_gene_id: ENSPPYP00000004833
symbol: C3AR1
gene_biotype: protein_coding
description:
  C3a anaphylatoxin chemotactic receptor; Receptor for the chemotactic and inflammatory peptide anaphylatoxin C3a. This receptor stimulates chemotaxis, granule enzyme release and superoxide anion production (By similarity); Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPPYP00000004834
symbol: NECAP1
gene_biotype: protein_coding
description:
  Adaptin ear-binding coat-associated protein 1; Involved in endocytosis; Belongs to the NECAP family.


ensembl_gene_id: ENSPPYP00000004847
symbol: A2M
gene_biotype: protein_coding
description:
  Alpha-2-macroglobulin; Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the co [...]


ensembl_gene_id: ENSPPYP00000004948
symbol: EPS8
gene_biotype: protein_coding
description:
  Epidermal growth factor receptor kinase substrate 8; Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and acti [...]


ensembl_gene_id: ENSPPYP00000004959
symbol: CAPZA3
gene_biotype: protein_coding
description:
  F-actin-capping protein subunit alpha; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments.


ensembl_gene_id: ENSPPYP00000004969
symbol: PYROXD1
gene_biotype: protein_coding
description:
  Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1; Probable FAD-dependent oxidoreductase; involved in the cellular oxidative stress response (By similarity). Required for normal sarcomere structure and muscle fiber integrity (By similarity).


ensembl_gene_id: ENSPPYP00000004971
symbol: RECQL
gene_biotype: protein_coding
description:
  ATP-dependent DNA helicase Q1; DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction (By similarity). Belongs to the helicase family. RecQ subfamily.


ensembl_gene_id: ENSPPYP00000004975
symbol: GYS2
gene_biotype: protein_coding
description:
  Glycogen [starch] synthase; Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan.


ensembl_gene_id: ENSPPYP00000004979
symbol: CMAS
gene_biotype: protein_coding
description:
  N-acylneuraminate cytidylyltransferase; Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D- glycero-D-galacto-nononic acid (KDN) (By similarity).


ensembl_gene_id: ENSPPYP00000004981
symbol: C2CD5
gene_biotype: protein_coding
description:
  C2 domain-containing protein 5; Required for insulin-stimulated glucose transport and glucose transporter SLC2A4/GLUT4 translocation from intracellular glucose storage vesicle (GSV) to the plasma membrane (PM) in adipocytes. Binds phospholipid membranes in a calcium-dependent manner and is necessary for the optimal membrane fusion between SLC2A4/GLUT4 GSV and the PM.


ensembl_gene_id: ENSPPYP00000004984
symbol: BCAT1
gene_biotype: protein_coding
description:
  Branched-chain-amino-acid aminotransferase; Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSPPYP00000004994
symbol: FGFR1OP2
gene_biotype: protein_coding
description:
  FGFR1 oncogene partner 2 homolog; May be involved in wound healing pathway; Belongs to the SIKE family.


ensembl_gene_id: ENSPPYP00000004996
symbol: MED21
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 21; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By similarity).


ensembl_gene_id: ENSPPYP00000005009
symbol: CCDC91
gene_biotype: protein_coding
description:
  Coiled-coil domain-containing protein 91; Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes.


ensembl_gene_id: ENSPPYP00000005017
symbol: SINHCAF
gene_biotype: protein_coding
description:
  SIN3-HDAC complex-associated factor; Subunit of the Sin3 deacetylase complex (Sin3/HDAC), this subunit is important for the repression of genes encoding components of the TGF-beta signaling pathway. Core component of a SIN3A complex (composed of at least SINHCAF, SIN3A, HDAC1, SAP30, RBBP4, OGT and TET1) present in embryonic stem (ES) cells. Promotes the stability of SIN3A and its presence on chromatin and is crucial for maintaining the potential of ES cells to proliferate rapidly, while ensuring a short G1-phase of the cell cycle, thereby preventing premature lineage priming.


ensembl_gene_id: ENSPPYP00000005028
symbol: DNM1L
gene_biotype: protein_coding
description:
  DNM1L isoform 4; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPPYP00000005031
symbol: SYT10
gene_biotype: protein_coding
description:
  Synaptotagmin-10; Ca(2+) sensor specifically required for the Ca(2+)-dependent exocytosis of secretory vesicles containing IGF1 in neurons of the olfactory bulb. Exocytosis of IGF1 is required for sensory perception of smell. Not involved in Ca(2+)-dependent synaptic vesicle exocytosis (By similarity). Acts through Ca(2+) and phospholipid binding to the C2 domain: Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity); Belongs to the synaptotagmin family.


ensembl_gene_id: ENSPPYP00000005039
symbol: SLC2A13
gene_biotype: protein_coding
description:
  SLC2A13 isoform 1; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPPYP00000005055
symbol: TWF1
gene_biotype: protein_coding
description:
  Twinfilin-1; Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G- actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles (By similarity). Belongs to the actin-binding proteins ADF family. Twinfilin subfamily.


ensembl_gene_id: ENSPPYP00000005062
symbol: SLC38A1
gene_biotype: protein_coding
description:
  Sodium-coupled neutral amino acid transporter 1; Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of glutamine and sodium ions with a stoichiometry of 1:1. May also transport small zwitterionic and aliphatic amino acids with a lower affinity. May supply glutamatergic and GABAergic neurons with glutamine which is required for the synthesis of the neurotransmitters glutamate and GABA (By similarity).


ensembl_gene_id: ENSPPYP00000005067
symbol: SLC38A4
gene_biotype: protein_coding
description:
  Sodium-coupled neutral amino acid transporter 4; Sodium-dependent amino acid transporter. Mediates electrogenic symport of neutral amino acids and sodium ions. Has a broad specificity, with a preference for Ala, followed by Ser, Gly, Cys, Asn, Thr, Pro and Met. May mediate sodium-independent transport of cationic amino acids, such as Arg and Lys. Amino acid uptake is pH- dependent, with highest transport activity between pH 7.5 and 8.5 (By similarity).


ensembl_gene_id: ENSPPYP00000005068
symbol: AMIGO2
gene_biotype: protein_coding
description:
  Amphoterin-induced protein 2; Required for depolarization-dependent survival of cultured cerebellar granule neurons. May mediate homophilic as well as heterophilic cell-cell interaction with AMIGO1 or AMIGO3. May contribute to signal transduction through its intracellular domain (By similarity).


ensembl_gene_id: ENSPPYP00000005074
symbol: HDAC7
gene_biotype: protein_coding
description:
  Histone deacetylase; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events.


ensembl_gene_id: ENSPPYP00000005082
symbol: SENP1
gene_biotype: protein_coding
description:
  Sentrin-specific protease 1; Protease that catalyzes two essential functions in the SUMO pathway. The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins. The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein. Deconjugates SUMO1 from HIPK2. Deconjugates SUMO1 from  [...]


ensembl_gene_id: ENSPPYP00000005084
symbol: PFKM
gene_biotype: protein_coding
description:
  ATP-dependent 6-phosphofructokinase, muscle type; Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis; Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade 'E' sub-subfamily.


ensembl_gene_id: ENSPPYP00000005086
symbol: ASB8
gene_biotype: protein_coding
description:
  Ankyrin repeat and SOCS box protein 8; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family.


ensembl_gene_id: ENSPPYP00000005096
symbol: KANSL2
gene_biotype: protein_coding
description:
  KAT8 regulatory NSL complex subunit 2; As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription.


ensembl_gene_id: ENSPPYP00000005099
symbol: ADCY6
gene_biotype: protein_coding
description:
  Adenylate cyclase; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSPPYP00000005101
symbol: DDX23
gene_biotype: protein_coding
description:
  Probable ATP-dependent RNA helicase DDX23; Involved in pre-mRNA splicing and its phosphorylated form (by SRPK2) is required for spliceosomal B complex formation.


ensembl_gene_id: ENSPPYP00000005104
symbol: LMBR1L
gene_biotype: protein_coding
description:
  Protein LMBR1L; Plays an essential role in lymphocyte development by negatively regulating the canonical Wnt signaling pathway (By similarity). In association with UBAC2 and E3 ubiquitin-protein ligase AMFR, promotes the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (By similarity). LMBR1L stabilizes the beta- catenin destruction complex that is required for regulating CTNNB1 levels (By similarity). Acts as a LCN1 receptor and can mediate its endocytosis (By similarity).


ensembl_gene_id: ENSPPYP00000005106
symbol: ARF3
gene_biotype: protein_coding
description:
  ADP-ribosylation factor 3; GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus (By similarity).


ensembl_gene_id: ENSPPYP00000005114
symbol: DHH
gene_biotype: protein_coding
description:
  Hedgehog protein; Intercellular signal essential for a variety of patterning events during development.


ensembl_gene_id: ENSPPYP00000005131
symbol: TMBIM6
gene_biotype: protein_coding
description:
  Bax inhibitor 1; Suppressor of apoptosis. Modulates unfolded protein response signaling. Modulates ER calcium homeostasis by acting as a calcium-leak channel. Negatively regulates autophagy and autophagosome formation, especially during periods of nutrient deprivation, and reduces cell survival during starvation; Belongs to the BI1 family.


ensembl_gene_id: ENSPPYP00000005136
symbol: BCDIN3D
gene_biotype: protein_coding
description:
  RNA 5'-monophosphate methyltransferase; O-methyltransferase that specifically monomethylates 5'- monophosphate of cytoplasmic histidyl tRNA, acting as a capping enzyme. Less efficiently, also methylates the 5' monophosphate of pre-miRNAs, acting as a negative regulator of miRNA processing. The 5' monophosphate of pre-miRNAs is recognized by DICER1 and is required for pre-miRNAs processing: methylation at this position reduces the processing of pre-miRNAs by DICER1. Able to mediate methylation of pre- miR-145, as well as other pre-miRNAs. There is some controversy about the methylation  [...]


ensembl_gene_id: ENSPPYP00000005137
symbol: FAIM2
gene_biotype: protein_coding
description:
  Protein lifeguard 2; Antiapoptotic protein which protects cells uniquely from Fas- induced apoptosis. Regulates Fas-mediated apoptosis in neurons by interfering with caspase-8 activation. Plays a role in cerebellar development by affecting cerebellar size, internal granular layer (IGL) thickness, and Purkinje cell (PC) development (By similarity).


ensembl_gene_id: ENSPPYP00000005169
symbol: SCN8A
gene_biotype: protein_coding
description:
  Sodium channel protein; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.


ensembl_gene_id: ENSPPYP00000005173
symbol: ACVRL1
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase receptor R3; Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well (By similarity).


ensembl_gene_id: ENSPPYP00000005216
symbol: MFSD5
gene_biotype: protein_coding
description:
  Molybdate-anion transporter; Mediates high-affinity intracellular uptake of the rare oligo-element molybdenum; Belongs to the major facilitator superfamily.


ensembl_gene_id: ENSPPYP00000005219
symbol: PFDN5
gene_biotype: protein_coding
description:
  Prefoldin subunit 5; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins. Represses the transcriptional activity of MYC (By similarity).


ensembl_gene_id: ENSPPYP00000005223
symbol: AMHR2
gene_biotype: protein_coding
description:
  Anti-Muellerian hormone type-2 receptor; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone.


ensembl_gene_id: ENSPPYP00000005227
symbol: TARBP2
gene_biotype: protein_coding
description:
  RISC-loading complex subunit TARBP2; Required for formation of the RNA induced silencing complex (RISC). Component of the RISC loading complex (RLC), also known as the micro-RNA (miRNA) loading complex (miRLC), which is composed of DICER1, AGO2 and TARBP2. Within the RLC/miRLC, DICER1 and TARBP2 are required to process precursor miRNAs (pre-miRNAs) to mature miRNAs and then load them onto AGO2. AGO2 bound to the mature miRNA constitutes the minimal RISC and may subsequently dissociate from DICER1 and TARBP2. May also play a role in the production of short interfering RNAs (siRNAs) from [...]


ensembl_gene_id: ENSPPYP00000005229
symbol: ATF7
gene_biotype: protein_coding
description:
  Cyclic AMP-dependent transcription factor ATF-7; Plays important functions in early cell signaling. Binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AG][AG]-3'), a sequence present in many viral and cellular promoters. Activator of the NF-ELAM1/delta-A site of the E-selectin promoter. Has no intrinsic transcriptional activity, but activates transcription on formation of JUN or FOS heterodimers. Also can bind TRE promoter sequences when heterodimerized with members of the JUN family (By similarity).


ensembl_gene_id: ENSPPYP00000005231
symbol: ATP5MC2
gene_biotype: protein_coding
description:
  ATP synthase F(0) complex subunit C2, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanis [...]


ensembl_gene_id: ENSPPYP00000005234
symbol: CALCOCO1
gene_biotype: protein_coding
description:
  Calcium-binding and coiled-coil domain-containing protein 1; Functions as a coactivator for aryl hydrocarbon and nuclear receptors (NR). Recruited to promoters through its contact with the N- terminal basic helix-loop-helix-Per-Arnt-Sim (PAS) domain of transcription factors or coactivators, such as NCOA2. During ER- activation acts synergistically in combination with other NCOA2-binding proteins, such as EP300, CREBBP and CARM1. Involved in the transcriptional activation of target genes in the Wnt/CTNNB1 pathway. Functions as a secondary coactivator in LEF1-mediated transcriptional act [...]


ensembl_gene_id: ENSPPYP00000005240
symbol: HOXC9
gene_biotype: protein_coding
description:
  Homeobox protein; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Belongs to the Abd-B homeobox family.


ensembl_gene_id: ENSPPYP00000005249
symbol: COPZ1
gene_biotype: protein_coding
description:
  Coatomer subunit zeta-1; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins (By similarity). The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-disso [...]


ensembl_gene_id: ENSPPYP00000005273
symbol: BLOC1S1
gene_biotype: protein_coding
description:
  Biogenesis of lysosome-related organelles complex 1 subunit 1; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. As part of the BORC complex may play a role in lysosomes movemen [...]


ensembl_gene_id: ENSPPYP00000005276
symbol: SARNP
gene_biotype: protein_coding
description:
  SAP domain-containing ribonucleoprotein; Binds both single-stranded and double-stranded DNA with higher affinity for the single-stranded form. Specifically binds to scaffold/matrix attachment region DNA. Also binds single-stranded RNA. Enhances RNA unwinding activity of DDX39A. May participate in important transcriptional or translational control of cell growth, metabolism and carcinogenesis. Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre- mRNA. TREX is  [...]


ensembl_gene_id: ENSPPYP00000005284
symbol: RAB5B
gene_biotype: protein_coding
description:
  Ras-related protein Rab-5B; Protein transport. Probably involved in vesicular traffic (By similarity).


ensembl_gene_id: ENSPPYP00000005288
symbol: ERBB3
gene_biotype: protein_coding
description:
  Receptor tyrosine-protein kinase erbB-3; Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase. May also be activated by CSPG5. Involved in the regulation of myeloid cell differentiation.


ensembl_gene_id: ENSPPYP00000005290
symbol: ESYT1
gene_biotype: protein_coding
description:
  Extended synaptotagmin-1; Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Binds calcium (via the C2 domains) and translocates to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels. Helps tether the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane (By similarity).


ensembl_gene_id: ENSPPYP00000005293
symbol: MYL6
gene_biotype: protein_coding
description:
  Myosin light polypeptide 6; Regulatory light chain of myosin. Does not bind calcium (By similarity).


ensembl_gene_id: ENSPPYP00000005297
symbol: RNF41
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase NRDP1; Acts as E3 ubiquitin-protein ligase and regulates the degradation of target proteins. Polyubiquitinates MYD88. Negatively regulates MYD88-dependent production of proinflammatory cytokines. Can promote TRIF-dependent production of type I interferon and inhibits infection with vesicular stomatitis virus. Promotes also activation of TBK1 and IRF3. Involved in the ubiquitination of erythropoietin (EPO) and interleukin-3 (IL-3) receptors. Thus, through maintaining basal levels of cytokine receptors, RNF41 is involved in the control of hematopoietic progeni [...]


ensembl_gene_id: ENSPPYP00000005305
symbol: PAN2
gene_biotype: protein_coding
description:
  PAN2-PAN3 deadenylation complex catalytic subunit PAN2; Catalytic subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenlyation-dependent  [...]


ensembl_gene_id: ENSPPYP00000005318
symbol: ATP5F1B
gene_biotype: protein_coding
description:
  ATP synthase subunit beta; Produces ATP from ADP in the presence of a proton gradient across the membrane.


ensembl_gene_id: ENSPPYP00000005319
symbol: PTGES3
gene_biotype: protein_coding
description:
  Prostaglandin E synthase 3; Cytosolic prostaglandin synthase that catalyzes the oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2). Molecular chaperone that localizes to genomic response elements in a hormone-dependent manner and disrupts receptor-mediated transcriptional activation, by promoting disassembly of transcriptional regulatory complexes. Facilitates HIF alpha proteins hydroxylation via interaction with EGLN1/PHD2, leading to recruit EGLN1/PHD2 to the HSP90 pathway.


ensembl_gene_id: ENSPPYP00000005320
symbol: NACA
gene_biotype: protein_coding
description:
  Nascent polypeptide-associated complex subunit alpha; Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. Also reduces the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites). May act as a specific coactivator for JUN, binding to DNA and stabilizing the interaction of JUN homodimers with target gene pr [...]


ensembl_gene_id: ENSPPYP00000005324
symbol: HSD17B6
gene_biotype: protein_coding
description:
  Hydroxysteroid 17-beta dehydrogenase 6; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPPYP00000005325
symbol: SDR9C7
gene_biotype: protein_coding
description:
  Short chain dehydrogenase/reductase family 9C member 7; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPPYP00000005345
symbol: DDIT3
gene_biotype: protein_coding
description:
  DNA damage-inducible transcript 3 protein; Multifunctional transcription factor in ER stress response. Plays an essential role in the response to a wide variety of cell stresses and induces cell cycle arrest and apoptosis in response to ER stress. Plays a dual role both as an inhibitor of CCAAT/enhancer- binding protein (C/EBP) function and as an activator of other genes. Acts as a dominant-negative regulator of C/EBP-induced transcription: dimerizes with members of the C/EBP family, impairs their association with C/EBP binding sites in the promoter regions, and inhibits the expression [...]


ensembl_gene_id: ENSPPYP00000005348
symbol: KIF5A
gene_biotype: protein_coding
description:
  Kinesin heavy chain isoform 5A; Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. [...]


ensembl_gene_id: ENSPPYP00000005349
symbol: PIP4K2C
gene_biotype: protein_coding
description:
  Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma; May play an important role in the production of Phosphatidylinositol bisphosphate (PIP2), in the endoplasmic reticulum.


ensembl_gene_id: ENSPPYP00000005363
symbol: METTL1
gene_biotype: protein_coding
description:
  tRNA (guanine-N(7)-)-methyltransferase; Catalyzes the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA; Belongs to the class I-like SAM-binding methyltransferase superfamily. TrmB family.


ensembl_gene_id: ENSPPYP00000005365
symbol: TSFM
gene_biotype: protein_coding
description:
  Elongation factor Ts, mitochondrial; Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF- Tu.GTP complex up to the GTP hydrolysis stage on the ribosome. Belongs to the EF-Ts family.


ensembl_gene_id: ENSPPYP00000005372
symbol: TAFA2
gene_biotype: protein_coding
description:
  Chemokine-like protein TAFA-2; Has a role as neurotrophic factor involved in neuronal survival and neurobiological functions; Belongs to the TAFA family.


ensembl_gene_id: ENSPPYP00000005378
symbol: AVPR1A
gene_biotype: protein_coding
description:
  Vasopressin V1a receptor; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system. Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.


ensembl_gene_id: ENSPPYP00000005384
symbol: XPOT
gene_biotype: protein_coding
description:
  Exportin-T; Mediates the nuclear export of aminoacylated tRNAs. In the nucleus binds to tRNA and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the tRNA from the export receptor. XPOT then return to the nuclear compartment and mediate another round of transport. The directionality of nucl [...]


ensembl_gene_id: ENSPPYP00000005393
symbol: MSRB3
gene_biotype: protein_coding
description:
  Methionine-R-sulfoxide reductase B3; Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine.


ensembl_gene_id: ENSPPYP00000005402
symbol: CAND1
gene_biotype: protein_coding
description:
  Cullin-associated NEDD8-dissociated protein 1; Key assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate- recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes. Acts as a F-box protein exchange factor. The exchange activity of CAND1 is coupled with cycles of neddylation conjugation: in the deneddylated state, cullin-binding CAND1 binds CUL1-RBX1, increasing dissociation of the SCF complex and promoting exchange of the F-box protein. Probably plays a similar  [...]


ensembl_gene_id: ENSPPYP00000005405
symbol: IFNG
gene_biotype: protein_coding
description:
  Interferon gamma; Produced by lymphocytes activated by specific antigens or mitogens. IFN-gamma, in addition to having antiviral activity, has important immunoregulatory functions. It is a potent activator of macrophages, it has antiproliferative effects on transformed cells and it can potentiate the antiviral and antitumor effects of the type I interferons.


ensembl_gene_id: ENSPPYP00000005410
symbol: MDM1
gene_biotype: protein_coding
description:
  Nuclear protein MDM1; Microtubule-binding protein that negatively regulates centriole duplication. Binds to and stabilizes microtubules. Belongs to the MDM1 family.


ensembl_gene_id: ENSPPYP00000005412
symbol: RAP1B
gene_biotype: protein_coding
description:
  Ras-related protein Rap-1b; GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarizing activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localization of phosphorylated PRKCZ, PARD3 and TIAM1 to the cell junction. Plays a role in the establishment of basal endothelial barrier function (By similarity); Belongs to the small GTPase superfamily. Ras family.


ensembl_gene_id: ENSPPYP00000005417
symbol: CPM
gene_biotype: protein_coding
description:
  Carboxypeptidase M; Specifically removes C-terminal basic residues (Arg or Lys) from peptides and proteins. It is believed to play important roles in the control of peptide hormone and growth factor activity at the cell surface, and in the membrane-localized degradation of extracellular proteins (By similarity); Belongs to the peptidase M14 family.


ensembl_gene_id: ENSPPYP00000005418
symbol: CPSF6
gene_biotype: protein_coding
description:
  Cleavage and polyadenylation specificity factor subunit 6; Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs. CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation. The  [...]


ensembl_gene_id: ENSPPYP00000005419
symbol: LYZ
gene_biotype: protein_coding
description:
  Lysozyme; Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte-macrophage system and enhance the activity of immunoagents. Belongs to the glycosyl hydrolase 22 family.


ensembl_gene_id: ENSPPYP00000005452
symbol: KRR1
gene_biotype: protein_coding
description:
  KRR1 small subunit processome component; Required for 40S ribosome biogenesis. Involved in nucleolar processing of pre-18S ribosomal RNA and ribosome assembly.


ensembl_gene_id: ENSPPYP00000005453
symbol: NAP1L1
gene_biotype: protein_coding
description:
  Nucleosome assembly protein 1-like 1; Plays a key role in the regulation of embryonic neurogenesis (By similarity). Promotes the proliferation of neural progenitors and inhibits neuronal differentiation during cortical development (By similarity). Regulates neurogenesis via the modulation of RASSF10; regulates RASSF10 expression by promoting SETD1A-mediated H3K4 methylation at the RASSF10 promoter (By similarity). Belongs to the nucleosome assembly protein (NAP) family.


ensembl_gene_id: ENSPPYP00000005455
symbol: BBS10
gene_biotype: protein_coding
description:
  Bardet-Biedl syndrome 10 protein homolog; Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis. Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation.


ensembl_gene_id: ENSPPYP00000005465
symbol: SYT1
gene_biotype: protein_coding
description:
  Synaptotagmin-1; Calcium sensor that participates in triggering neurotransmitter release at the synapse (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone. A Ca(2+)- dependent interaction between synaptotagmin and putative receptors for activated protein kinase C has also been reported. It can bind to at least three additional proteins in a Ca(2+)-in [...]


ensembl_gene_id: ENSPPYP00000005475
symbol: LIN7A
gene_biotype: protein_coding
description:
  Protein lin-7 homolog; Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells; Belongs to the lin-7 family.


ensembl_gene_id: ENSPPYP00000005476
symbol: ACSS3
gene_biotype: protein_coding
description:
  Acyl-CoA synthetase short-chain family member 3, mitochondrial; Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (By similarity). Propionate is the preferred substrate but can also utilize acetate and butyrate with a much lower affinity.


ensembl_gene_id: ENSPPYP00000005482
symbol: SLC6A15
gene_biotype: protein_coding
description:
  Sodium-dependent neutral amino acid transporter B(0)AT2; Functions as a sodium-dependent neutral amino acid transporter. Exhibits preference for methionine and for the branched- chain amino acids, particularly leucine, valine and isoleucine. Mediates the saturable, pH-sensitive and electrogenic cotransport of proline and sodium ions with a stoichiometry of 1:1. May have a role as transporter for neurotransmitter precursors into neurons. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity); Belongs to the sodiu [...]


ensembl_gene_id: ENSPPYP00000005491
symbol: KITLG
gene_biotype: protein_coding
description:
  Kit ligand; Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. Belongs to the SCF family.


ensembl_gene_id: ENSPPYP00000005494
symbol: POC1B
gene_biotype: protein_coding
description:
  POC1 centriolar protein homolog B; Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1A to ensure centriole integrity and proper mitotic spindle formation. Required for primary cilia formation, ciliary length and also cell proliferation. Required for retinal integrity; Belongs to the WD repeat POC1 family.


ensembl_gene_id: ENSPPYP00000005509
symbol: NUDT4
gene_biotype: protein_coding
description:
  Diphosphoinositol polyphosphate phosphohydrolase 2; Cleaves a beta-phosphate from the diphosphate groups in PP- InsP5 (diphosphoinositol pentakisphosphate), PP-InsP4 and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphate Ap6A, but not Ap5A. The major reaction products are ADP and p4a from Ap6A. Also able to hydrolyze 5- phosphoribose 1-diphosphate. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA (By similarity); Belongs to the Nudix hyd [...]


ensembl_gene_id: ENSPPYP00000005510
symbol: UBE2N
gene_biotype: protein_coding
description:
  Ubiquitin-conjugating enzyme E2 N; The UBE2V1-UBE2N and UBE2V2-UBE2N heterodimers catalyze the synthesis of non-canonical 'Lys-63'-linked polyubiquitin chains. This type of polyubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. Acts together with the E3 ligases, HLTF and SHPRH, in the 'Lys-63'-linked poly- ubiquitination of  [...]


ensembl_gene_id: ENSPPYP00000005511
symbol: MRPL42
gene_biotype: protein_coding
description:
  39S ribosomal protein L42, mitochondrial; Belongs to the mitochondrion-specific ribosomal protein mL42 family.


ensembl_gene_id: ENSPPYP00000005515
symbol: CRADD
gene_biotype: protein_coding
description:
  Death domain-containing protein CRADD; Adapter protein that associates with PIDD1 and the caspase CASP2 to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis. Also recruits CASP2 to the TNFR-1 signaling complex through its interaction with RIPK1 and TRADD and may play a role in the tumor necrosis factor-mediated signaling pathway.


ensembl_gene_id: ENSPPYP00000005519
symbol: NDUFA12
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPPYP00000005520
symbol: NR2C1
gene_biotype: protein_coding
description:
  Nuclear receptor subfamily 2 group C member 1; Orphan nuclear receptor. Binds the IR7 element in the promoter of its own gene in an autoregulatory negative feedback mechanism. Primarily repressor of a broad range of genes including ESR1 and RARB. Together with NR2C2, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription. Binds to hormone response elements (HREs) consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences. Also activator of OCT4 gene expression. Plays a fundamental role in early emb [...]


ensembl_gene_id: ENSPPYP00000005524
symbol: VEZT
gene_biotype: protein_coding
description:
  Vezatin; Plays a pivotal role in the establishment of adherens junctions and their maintenance in adult life. Required for morphogenesis of the preimplantation embryo, and for the implantation process.


ensembl_gene_id: ENSPPYP00000005526
symbol: METAP2
gene_biotype: protein_coding
description:
  Methionine aminopeptidase 2; Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met- Ala-, Cys, Gly, Pro, Ser, Thr, or Val). Belongs to the peptidase M24A family. Methionine aminopeptidase eukaryotic type 2 subfamily.


ensembl_gene_id: ENSPPYP00000005541
symbol: SLC25A3
gene_biotype: protein_coding
description:
  Phosphate carrier protein, mitochondrial; Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). May play a role regulation of the mitochondrial permeability transition pore (mPTP) (By similarity).


ensembl_gene_id: ENSPPYP00000005543
symbol: APAF1
gene_biotype: protein_coding
description:
  Apoptotic protease-activating factor 1; Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP.


ensembl_gene_id: ENSPPYP00000005589
symbol: ALDH1L2
gene_biotype: protein_coding
description:
  10-formyltetrahydrofolate dehydrogenase; In the C-terminal section; belongs to the aldehyde dehydrogenase family. ALDH1L subfamily.


ensembl_gene_id: ENSPPYP00000005597
symbol: POLR3B
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase subunit beta; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.


ensembl_gene_id: ENSPPYP00000005603
symbol: MTERF2
gene_biotype: protein_coding
description:
  Transcription termination factor 2, mitochondrial; Binds mitochondrial DNA and plays a role in the regulation of transcription of mitochondrial mRNA and rRNA species.


ensembl_gene_id: ENSPPYP00000005606
symbol: PRDM4
gene_biotype: protein_coding
description:
  PR domain zinc finger protein 4; May function as a transcription factor involved in cell differentiation; Belongs to the class V-like SAM-binding methyltransferase superfamily.


ensembl_gene_id: ENSPPYP00000005611
symbol: SART3
gene_biotype: protein_coding
description:
  Squamous cell carcinoma antigen recognized by T-cells 3; U6 snRNP-binding protein that functions as a recycling factor of the splicing machinery. Promotes the initial reassembly of U4 and U6 snRNPs following their ejection from the spliceosome during its maturation. Also binds U6atac snRNPs and may function as a recycling factor for U4atac/U6atac spliceosomal snRNP, an initial step in the assembly of U12-type spliceosomal complex. The U12-type spliceosomal complex plays a role in the splicing of introns with non-canonical splice sites. May also function as a substrate-targeting factor  [...]


ensembl_gene_id: ENSPPYP00000005612
symbol: ISCU
gene_biotype: protein_coding
description:
  Iron-sulfur cluster assembly enzyme; Scaffold protein for the de novo synthesis of iron-sulfur (Fe-S) clusters within mitochondria, which is required for maturation of both mitochondrial and cytoplasmic [2Fe-2S] and [4Fe-4S] proteins.


ensembl_gene_id: ENSPPYP00000005622
symbol: UNG
gene_biotype: protein_coding
description:
  Uracil-DNA glycosylase; Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine; Belongs to the uracil-DNA glycosylase (UDG) superfamily. UNG family.


ensembl_gene_id: ENSPPYP00000005637
symbol: TCHP
gene_biotype: protein_coding
description:
  Trichoplein keratin filament-binding protein; Tumor suppressor which has the ability to inhibit cell growth and be pro-apoptotic during cell stress. May act as a 'capping' or 'branching' protein for keratin filaments in the cell periphery. May regulate K8/K18 filament and desmosome organization mainly at the apical or peripheral regions of simple epithelial cells (By similarity). Is a negative regulator of ciliogenesis (By similarity). Belongs to the TCHP family.


ensembl_gene_id: ENSPPYP00000005645
symbol: ARPC3
gene_biotype: protein_coding
description:
  Actin-related protein 2/3 complex subunit 3; Functions as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks.


ensembl_gene_id: ENSPPYP00000005646
symbol: GPN3
gene_biotype: protein_coding
description:
  GPN-loop GTPase 3; Small GTPase required for proper nuclear import of RNA polymerase II and III (RNAPII and RNAPIII). May act at an RNAP assembly step prior to nuclear import; Belongs to the GPN-loop GTPase family.


ensembl_gene_id: ENSPPYP00000005648
symbol: VPS29
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 29; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans- Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for carg [...]


ensembl_gene_id: ENSPPYP00000005665
symbol: ALDH2
gene_biotype: protein_coding
description:
  Aldehyde dehydrogenase, mitochondrial; Is capable of converting retinaldehyde to retinoic acid. Belongs to the aldehyde dehydrogenase family.


ensembl_gene_id: ENSPPYP00000005698
symbol: MED13L
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 13; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPPYP00000005705
symbol: FBXO21
gene_biotype: protein_coding
description:
  F-box only protein 21; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.


ensembl_gene_id: ENSPPYP00000005712
symbol: PEBP1
gene_biotype: protein_coding
description:
  Hippocampal cholinergic neurostimulating peptide; Binds ATP, opioids and phosphatidylethanolamine. Has lower affinity for phosphatidylinositol and phosphatidylcholine. Serine protease inhibitor which inhibits thrombin, neuropsin and chymotrypsin but not trypsin, tissue type plasminogen activator and elastase (By similarity). Inhibits the kinase activity of RAF1 by inhibiting its activation and by dissociating the RAF1/MEK complex and acting as a competitive inhibitor of MEK phosphorylation (By similarity). Belongs to the phosphatidylethanolamine-binding protein family.


ensembl_gene_id: ENSPPYP00000005714
symbol: SUDS3
gene_biotype: protein_coding
description:
  Sin3 histone deacetylase corepressor complex component SDS3; Regulatory protein which represses transcription and augments histone deacetylase activity of HDAC1. May have a potential role in tumor suppressor pathways through regulation of apoptosis. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes (By similarity).


ensembl_gene_id: ENSPPYP00000005719
symbol: PRKAB1
gene_biotype: protein_coding
description:
  5'-AMP-activated protein kinase subunit beta-1; Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a reg [...]


ensembl_gene_id: ENSPPYP00000005720
symbol: CIT
gene_biotype: protein_coding
description:
  Citron Rho-interacting kinase; Plays a role in cytokinesis. Displays serine/threonine protein kinase activity; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.


ensembl_gene_id: ENSPPYP00000005724
symbol: RPLP0
gene_biotype: protein_coding
description:
  60S acidic ribosomal protein P0; Ribosomal protein P0 is the functional equivalent of E.coli protein L10.


ensembl_gene_id: ENSPPYP00000005726
symbol: NME2
gene_biotype: protein_coding
description:
  Nucleoside diphosphate kinase B; Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate (By similarity). Negatively regulates Rho activity by interacting with AKAP13/LBC. Acts as a transcriptional activator of the MYC gene; binds DNA non-specifically. Binds to both single-stranded guanine- and cytosine-rich strands within the nuclease hypersensitive element (NHE) III(1) region of the MYC gene promoter. Does not bind to duplex NHE I [...]


ensembl_gene_id: ENSPPYP00000005727
symbol: SIRT4
gene_biotype: protein_coding
description:
  NAD-dependent protein lipoamidase sirtuin-4, mitochondrial; Acts as NAD-dependent protein lipoamidase, ADP-ribosyl transferase and deacetylase. Catalyzes more efficiently removal of lipoyl- and biotinyl- than acetyl-lysine modifications. Inhibits the pyruvate dehydrogenase complex (PDH) activity via the enzymatic hydrolysis of the lipoamide cofactor from the E2 component, DLAT, in a phosphorylation-independent manner. Catalyzes the transfer of ADP- ribosyl groups onto target proteins, including mitochondrial GLUD1, inhibiting GLUD1 enzyme activity. Acts as a negative regulator of mitoc [...]


ensembl_gene_id: ENSPPYP00000005732
symbol: GATC
gene_biotype: protein_coding
description:
  Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial; Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). Belongs to the GatC family.


ensembl_gene_id: ENSPPYP00000005736
symbol: COQ5
gene_biotype: protein_coding
description:
  2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial; Methyltransferase required for the conversion of 2- polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3-methyl- 6-methoxy-1,4-benzoquinol (DMQH2).


ensembl_gene_id: ENSPPYP00000005738
symbol: POP5
gene_biotype: protein_coding
description:
  Ribonuclease P/MRP protein subunit POP5; Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends.


ensembl_gene_id: ENSPPYP00000005742
symbol: ACADS
gene_biotype: protein_coding
description:
  Short-chain specific acyl-CoA dehydrogenase, mitochondrial; Short-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats. The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA. Among the different mitochondrial acyl-CoA dehydrogenases, short-chai [...]


ensembl_gene_id: ENSPPYP00000005748
symbol: P2RX7
gene_biotype: protein_coding
description:
  P2X purinoceptor; Receptor for ATP that acts as a ligand-gated ion channel. Belongs to the P2X receptor family.


ensembl_gene_id: ENSPPYP00000005751
symbol: ANAPC5
gene_biotype: protein_coding
description:
  Anaphase-promoting complex subunit 5; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (By similarity).


ensembl_gene_id: ENSPPYP00000005752
symbol: RNF34
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RNF34; E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate cell death downstream of death domain receptors in the extrinsic pathway of apoptosis. May mediate 'Lys-48'-linked polyubiquitination of RIPK1 and its subsequent proteasomal degradation thereby indirectly regulating the tumor necrosis factor-mediated signaling pathway. Negatively regulates p5 [...]


ensembl_gene_id: ENSPPYP00000005763
symbol: WDR66
gene_biotype: protein_coding
description:
  Cilia- and flagella-associated protein 251; Involved in spermatozoa motility (By similarity). May also regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity).


ensembl_gene_id: ENSPPYP00000005770
symbol: DIABLO
gene_biotype: protein_coding
description:
  Diablo homolog, mitochondrial; Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing the inhibitory activity of inhibitor of apoptosis proteins (IAP) (By similarity). inhibitory activity of inhibitor of apoptosis proteins (IAP). Inhibits the activity of BIRC6/bruce by inhibiting its binding to caspases (By similarity).


ensembl_gene_id: ENSPPYP00000005774
symbol: ZCCHC8
gene_biotype: protein_coding
description:
  Zinc finger CCHC domain-containing protein 8; Scaffolding subunit of the trimeric nuclear exosome targeting (NEXT) complex. NEXT functions as an RNA exosome cofactor that directs a subset of non-coding short-lived RNAs for exosomal degradation. NEXT is involved in surveillance and turnover of aberrant transcripts and non-coding RNAs. May be involved in pre-mRNA splicing.


ensembl_gene_id: ENSPPYP00000005779
symbol: DENR
gene_biotype: protein_coding
description:
  Density-regulated protein; May be involved in the translation of target mRNAs by scanning and recognition of the initiation codon. Involved in translation initiation; promotes recruitment of aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits (By similarity); Belongs to the DENR family.


ensembl_gene_id: ENSPPYP00000005799
symbol: EIF2B1
gene_biotype: protein_coding
description:
  Translation initiation factor eIF-2B subunit alpha; Catalyzes the exchange of eukaryotic initiation factor 2- bound GDP for GTP; Belongs to the eIF-2B alpha/beta/delta subunits family.


ensembl_gene_id: ENSPPYP00000005841
symbol: RAN
gene_biotype: protein_coding
description:
  GTP-binding nuclear protein Ran; GTPase involved in nucleocytoplasmic transport, participating both to the import and the export from the nucleus of proteins and RNAs. Switches between a cytoplasmic GDP- and a nuclear GTP-bound state by nucleotide exchange and GTP hydrolysis. Nuclear import receptors such as importin beta bind their substrates only in the absence of GTP- bound RAN and release them upon direct interaction with GTP-bound RAN, while export receptors behave in the opposite way. Thereby, RAN controls cargo loading and release by transport receptors in the proper compartment [...]


ensembl_gene_id: ENSPPYP00000005848
symbol: ULK1
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase; Serine/threonine-protein kinase involved in autophagy in response to starvation; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. APG1/unc-51/ULK1 subfamily.


ensembl_gene_id: ENSPPYP00000005860
symbol: POLE
gene_biotype: protein_coding
description:
  DNA polymerase epsilon catalytic subunit; DNA polymerase II participates in chromosomal DNA replication; Belongs to the DNA polymerase type-B family.


ensembl_gene_id: ENSPPYP00000005869
symbol: CHFR
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase CHFR; E3 ubiquitin-protein ligase that functions in the antephase checkpoint by actively delaying passage into mitosis in response to microtubule poisons. Acts in early prophase before chromosome condensation, when the centrosome move apart from each other along the periphery of the nucleus. Probably involved in signaling the presence of mitotic stress caused by microtubule poisons by mediating the 'Lys- 48'-linked ubiquitination of target proteins, leading to their degradation by the proteasome. Promotes the ubiquitination and subsequent degradation of AURK [...]


ensembl_gene_id: ENSPPYP00000005888
symbol: ZNF664
gene_biotype: protein_coding
description:
  Zinc finger protein 664; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000005918
symbol: EEF1AKMT1
gene_biotype: protein_coding
description:
  EEF1A lysine methyltransferase 1; Protein-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at 'Lys-79'; Belongs to the class I-like SAM-binding methyltransferase superfamily. EFM5 family.


ensembl_gene_id: ENSPPYP00000005921
symbol: SAP18
gene_biotype: protein_coding
description:
  Histone deacetylase complex subunit SAP18; Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone proteins. Auxiliary component of the splicing- dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or durin [...]


ensembl_gene_id: ENSPPYP00000005932
symbol: MIPEP
gene_biotype: protein_coding
description:
  Mitochondrial intermediate peptidase; Cleaves proteins, imported into the mitochondrion, to their mature size; Belongs to the peptidase M3 family.


ensembl_gene_id: ENSPPYP00000005951
symbol: LOC100442324
gene_biotype: protein_coding
description:
  Phospholipid-transporting ATPase; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.


ensembl_gene_id: ENSPPYP00000005971
symbol: FLT3
gene_biotype: protein_coding
description:
  FLT3 isoform 1; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSPPYP00000005972
symbol: PAN3
gene_biotype: protein_coding
description:
  PAN2-PAN3 deadenylation complex subunit PAN3; Regulatory subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenlyation-dependent mRNA deca [...]


ensembl_gene_id: ENSPPYP00000005973
symbol: FLT1
gene_biotype: protein_coding
description:
  FLT1 isoform 1; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSPPYP00000005974
symbol: POMP
gene_biotype: protein_coding
description:
  Proteasome maturation protein; Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation (By similarity). Mediates the association of 20S preproteasome with the endoplasmic reticulum (By similarity).


ensembl_gene_id: ENSPPYP00000005982
symbol: KATNAL1
gene_biotype: protein_coding
description:
  Katanin p60 ATPase-containing subunit A-like 1; Catalytic subunit of a complex which severs microtubules in an ATP-dependent manner. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neur [...]


ensembl_gene_id: ENSPPYP00000005987
symbol: HSPH1
gene_biotype: protein_coding
description:
  Heat shock protein 105 kDa; Acts as a nucleotide-exchange factor (NEF) for chaperone proteins HSPA1A and HSPA1B, promoting the release of ADP from HSPA1A/B thereby triggering substrate release. Prevents the aggregation of denatured proteins in cells under severe stress, on which the ATP levels decrease markedly. Inhibits HSPA8/HSC70 ATPase and chaperone activities.


ensembl_gene_id: ENSPPYP00000006026
symbol: SUPT20H
gene_biotype: protein_coding
description:
  Transcription factor SPT20 homolog; Required for MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) activation during gastrulation. Required for down-regulation of E-cadherin during gastrulation by regulating E-cadherin protein level downstream from NCK-interacting kinase (NIK) and independently of the regulation of transcription by FGF signaling and Snail. Required for starvation-induced ATG9A trafficking during autophagy (By similarity). Belongs to the SPT20 family.


ensembl_gene_id: ENSPPYP00000006031
symbol: UFM1
gene_biotype: protein_coding
description:
  Ubiquitin-fold modifier 1; Ubiquitin-like modifier which can be covalently attached via an isopeptide bond to substrate proteins as a monomer or a lysine- linked polymer. The so-called ufmylation, requires the UFM1-activating E1 enzyme UBA5, the UFM1-conjugating E2 enzyme UFC1, and the UFM1- ligase E3 enzyme UFL1. This post-translational modification on lysine residues of proteins may play a crucial role in a number of cellular processes. TRIP4 ufmylation may for instance play a role in nuclear receptors-mediated transcription. Other substrates may include DDRGK1 with which it may play [...]


ensembl_gene_id: ENSPPYP00000006063
symbol: DNAJC15
gene_biotype: protein_coding
description:
  DnaJ homolog subfamily C member 15; Negative regulator of the mitochondrial respiratory chain. Prevents mitochondrial hyperpolarization state and restricts mitochondrial generation of ATP. Acts as an import component of the TIM23 translocase complex. Stimulates the ATPase activity of HSPA9 (By similarity).


ensembl_gene_id: ENSPPYP00000006070
symbol: SERP2
gene_biotype: protein_coding
description:
  Stress-associated endoplasmic reticulum protein; May interact with target proteins during translocation into the lumen of the endoplasmic reticulum. May protect unfolded target proteins against degradation and facilitate correct glycosylation. Belongs to the RAMP4 family.


ensembl_gene_id: ENSPPYP00000006071
symbol: TSC22D1
gene_biotype: protein_coding
description:
  TSC22 domain family protein 1; Transcriptional repressor. Acts on the C-type natriuretic peptide (CNP) promoter (By similarity); Belongs to the TSC-22/Dip/Bun family.


ensembl_gene_id: ENSPPYP00000006076
symbol: GTF2F2
gene_biotype: protein_coding
description:
  General transcription factor IIF subunit 2; TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation. This subunit shows ATP-dependent DNA-helicase activity.


ensembl_gene_id: ENSPPYP00000006084
symbol: SIAH3
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.


ensembl_gene_id: ENSPPYP00000006097
symbol: SUCLA2
gene_biotype: protein_coding
description:
  Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial; ATP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of ATP and thus represents the only step of substrate-level phosphorylation in the TCA. The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit.


ensembl_gene_id: ENSPPYP00000006099
symbol: MED4
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 4; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPPYP00000006101
symbol: ITM2B
gene_biotype: protein_coding
description:
  Integral membrane protein 2B; Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites (By similarity).  Bri23 peptide prevents aggregation of APP amyloid-beta protein 42 into toxic oligomers; Belongs to the ITM2 family.


ensembl_gene_id: ENSPPYP00000006111
symbol: FNDC3A
gene_biotype: protein_coding
description:
  Fibronectin type-III domain-containing protein 3A; Mediates spermatid-Sertoli adhesion during spermatogenesis. Belongs to the FNDC3 family.


ensembl_gene_id: ENSPPYP00000006113
symbol: CDADC1
gene_biotype: protein_coding
description:
  Cytidine and dCMP deaminase domain-containing protein 1; May play an important role in testicular development and spermatogenesis; Belongs to the cytidine and deoxycytidylate deaminase family.


ensembl_gene_id: ENSPPYP00000006134
symbol: ALG11
gene_biotype: protein_coding
description:
  GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol-linked oligosaccharide chain (By similarity).


ensembl_gene_id: ENSPPYP00000006141
symbol: CKAP2
gene_biotype: protein_coding
description:
  Cytoskeleton-associated protein 2; Possesses microtubule stabilizing properties. Involved in regulating aneuploidy, cell cycling, and cell death in a p53/TP53- dependent manner (By similarity).


ensembl_gene_id: ENSPPYP00000006186
symbol: OBI1
gene_biotype: protein_coding
description:
  ORC ubiquitin ligase 1; E3 ubiquitin ligase essential for DNA replication origin activation during S phase. Acts as a replication origin selector which selects the origins to be fired and catalyzes the multi-mono- ubiquitination of a subset of chromatin-bound ORC3 and ORC5 during S- phase.


ensembl_gene_id: ENSPPYP00000006192
symbol: SLITRK1
gene_biotype: protein_coding
description:
  SLIT and NTRK-like protein 1; It is involved in synaptogenesis and promotes excitatory synapse differentiation. Enhances neuronal dendrite outgrowth. Belongs to the SLITRK family.


ensembl_gene_id: ENSPPYP00000006199
symbol: GPC5
gene_biotype: protein_coding
description:
  GPC5 isoform 2; Cell surface proteoglycan that bears heparan sulfate. Belongs to the glypican family.


ensembl_gene_id: ENSPPYP00000006200
symbol: GPC6
gene_biotype: protein_coding
description:
  Secreted glypican-6; Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Enhances migration and invasion of cancer cells through WNT5A signaling (By similarity).


ensembl_gene_id: ENSPPYP00000006209
symbol: CLDN10
gene_biotype: protein_coding
description:
  Claudin-10; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Involved in the regulation of paracellular epithelia permeability to ions in multiple organs. It acts as a paracellular ion channel probably forming permselective pores; isoform 1 appears to create pores preferentially permeable to cations and isoform 2 for anions. In sweat glands and in the thick ascending limb (TAL) of Henle's loop in kidney, it controls paracellular sodium permeability which is essential for proper sweat production an [...]


ensembl_gene_id: ENSPPYP00000006216
symbol: MBNL2
gene_biotype: protein_coding
description:
  Muscleblind-like protein 2; Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5'ACACCC-3' core sequence, termed zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Seems to regulate expr [...]


ensembl_gene_id: ENSPPYP00000006222
symbol: RAP2A
gene_biotype: protein_coding
description:
  Ras-related protein Rap-2a; Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form. In its active form interacts with and regulates several effectors including MAP4K4, MINK1 and TNIK. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it is part of several signaling cascades and may regulate cytoskeletal rearrangements, cell migration, cell adhesion and cell spreading (By similarity).


ensembl_gene_id: ENSPPYP00000006225
symbol: FARP1
gene_biotype: protein_coding
description:
  FERM, ARHGEF and pleckstrin domain-containing protein 1; Functions as guanine nucleotide exchange factor for RAC1. May play a role in semaphorin signaling. Plays a role in the assembly and disassembly of dendritic filopodia, the formation of dendritic spines, regulation of dendrite length and ultimately the formation of synapses (By similarity).


ensembl_gene_id: ENSPPYP00000006235
symbol: TM9SF2
gene_biotype: protein_coding
description:
  Transmembrane 9 superfamily member 2; In the intracellular compartments, may function as a channel or small molecule transporter; Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family.


ensembl_gene_id: ENSPPYP00000006272
symbol: NAXD
gene_biotype: protein_coding
description:
  ATP-dependent (S)-NAD(P)H-hydrate dehydratase; Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S- and R-forms, the enzyme allows the repair of both epimers of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. Belongs to the NnrD/CARKD family.


ensembl_gene_id: ENSPPYP00000006284
symbol: CR201_G0004139
gene_biotype: protein_coding
description:
  Gamma-tubulin complex component; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome; Belongs to the TUBGCP family.


ensembl_gene_id: ENSPPYP00000006299
symbol: ADPRHL1
gene_biotype: protein_coding
description:
  [Protein ADP-ribosylarginine] hydrolase-like protein 1; Belongs to the ADP-ribosylglycohydrolase family.


ensembl_gene_id: ENSPPYP00000006303
symbol: ATP4B
gene_biotype: protein_coding
description:
  Sodium/potassium-transporting ATPase subunit beta; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. Belongs to the X(+)/potassium ATPases subunit beta family.


ensembl_gene_id: ENSPPYP00000006314
symbol: LIG4
gene_biotype: protein_coding
description:
  DNA ligase 4; Efficiently joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA nonhomologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends.


ensembl_gene_id: ENSPPYP00000006334
symbol: APEX1
gene_biotype: protein_coding
description:
  DNA-(apurinic or apyrimidinic site) lyase; Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends.


ensembl_gene_id: ENSPPYP00000006335
symbol: PIP4P1
gene_biotype: protein_coding
description:
  Phosphatidylinositol-4,5-bisphosphate 4-phosphatase; Catalyzes the hydrolysis of phosphatidylinositol-4,5- bisphosphate (PtdIns-4,5-P2) to phosphatidylinositol-4-phosphate (PtdIns-4-P).


ensembl_gene_id: ENSPPYP00000006336
symbol: PNP
gene_biotype: protein_coding
description:
  Purine nucleoside phosphorylase; The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta- (deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate.


ensembl_gene_id: ENSPPYP00000006341
symbol: RNASE4
gene_biotype: protein_coding
description:
  Ribonuclease 4; This RNase has marked specificity towards the 3' side of uridine nucleotides; Belongs to the pancreatic ribonuclease family.


ensembl_gene_id: ENSPPYP00000006352
symbol: NDRG2
gene_biotype: protein_coding
description:
  Protein NDRG2; Contributes to the regulation of the Wnt signaling pathway. Down-regulates CTNNB1-mediated transcriptional activation of target genes, such as CCND1, and may thereby act as tumor suppressor. May be involved in dendritic cell and neuron differentiation (By similarity). Belongs to the NDRG family.


ensembl_gene_id: ENSPPYP00000006361
symbol: HNRNPC
gene_biotype: protein_coding
description:
  Heterogeneous nuclear ribonucleoprotein C; Binds pre-mRNA and nucleates the assembly of 40S hnRNP particles. Interacts with poly-U tracts in the 3'-UTR or 5'-UTR of mRNA and modulates the stability and the level of translation of bound mRNA molecules. Single HNRNPC tetramers bind 230-240 nucleotides. Trimers of HNRNPC tetramers bind 700 nucleotides. May play a role in the early steps of spliceosome assembly and pre-mRNA splicing. N6-methyladenosine (m6A) has been shown to alter the local structure in mRNAs and long non-coding RNAs (lncRNAs) via a mechanism named 'm(6)A-switch', facilit [...]


ensembl_gene_id: ENSPPYP00000006365
symbol: CHD8
gene_biotype: protein_coding
description:
  Chromodomain-helicase-DNA-binding protein 8; DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive [...]


ensembl_gene_id: ENSPPYP00000006367
symbol: TOX4
gene_biotype: protein_coding
description:
  TOX high mobility group box family member 4; Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase.


ensembl_gene_id: ENSPPYP00000006408
symbol: DAD1
gene_biotype: protein_coding
description:
  Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the [...]


ensembl_gene_id: ENSPPYP00000006416
symbol: MMP14
gene_biotype: protein_coding
description:
  Matrix metalloproteinase-14; Endopeptidase that degrades various components of the extracellular matrix, such as collagen. Activates progelatinase A. Essential for pericellular collagenolysis and modeling of skeletal and extraskeletal connective tissues during development. May be involved in actin cytoskeleton reorganization by cleaving PTK7. Acts as a positive regulator of cell growth and migration via activation of MMP15 in association with pro-MMP2. Involved in the formation of the fibrovascular tissues in association with pro-MMP2. Cleaves ADGRB1 to release vasculostatin-40 which i [...]


ensembl_gene_id: ENSPPYP00000006422
symbol: PRMT5
gene_biotype: protein_coding
description:
  Protein arginine N-methyltransferase 5; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Methylates SUPT5H and may regulate its transcriptional elongation properties (By similarity). Mono- and dimethylates arginine resi [...]


ensembl_gene_id: ENSPPYP00000006427
symbol: PSMB5
gene_biotype: protein_coding
description:
  Proteasome subunit beta type-5; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...]


ensembl_gene_id: ENSPPYP00000006436
symbol: SLC7A8
gene_biotype: protein_coding
description:
  Large neutral amino acids transporter small subunit 2; Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine, threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of neutral amino acids. Involved in the uptake of methylmercury (MeHg) when administe [...]


ensembl_gene_id: ENSPPYP00000006452
symbol: DHRS4
gene_biotype: protein_coding
description:
  Dehydrogenase/reductase SDR family member 4; Reduces all-trans-retinal and 9-cis retinal. Can also catalyze the oxidation of all-trans-retinol with NADP as co-factor, but with much lower efficiency. Reduces alkyl phenyl ketones and alpha- dicarbonyl compounds with aromatic rings, such as pyrimidine-4- aldehyde, 3-benzoylpyridine, 4-benzoylpyridine, menadione and 4- hexanoylpyridine. Has no activity towards aliphatic aldehydes and ketones (By similarity).


ensembl_gene_id: ENSPPYP00000006455
symbol: CPNE6
gene_biotype: protein_coding
description:
  Copine-6; Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Binds phospholipid membranes in a calcium-dependent manner (By similarity). Plays a role in dendrite formation by melanocytes (By similarity). Belongs to the copine family.


ensembl_gene_id: ENSPPYP00000006460
symbol: DCAF11
gene_biotype: protein_coding
description:
  DDB1- and CUL4-associated factor 11; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.


ensembl_gene_id: ENSPPYP00000006469
symbol: TM9SF1
gene_biotype: protein_coding
description:
  Transmembrane 9 superfamily member 1; Plays an essential role in autophagy; Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family.


ensembl_gene_id: ENSPPYP00000006474
symbol: GMPR2
gene_biotype: protein_coding
description:
  GMP reductase; Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides.


ensembl_gene_id: ENSPPYP00000006478
symbol: RABGGTA
gene_biotype: protein_coding
description:
  Geranylgeranyl transferase type-2 subunit alpha; Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A; Belongs to the protein prenyltransferase subunit alpha family.


ensembl_gene_id: ENSPPYP00000006500
symbol: PRKD1
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.


ensembl_gene_id: ENSPPYP00000006518
symbol: SNX6
gene_biotype: protein_coding
description:
  Sorting nexin-6, N-terminally processed; Involved in several stages of intracellular trafficking. Interacts with membranes phosphatidylinositol 3,4-bisphosphate and/or phosphatidylinositol 4,5-bisphosphate (Probable). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome- to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile call [...]


ensembl_gene_id: ENSPPYP00000006521
symbol: SRP54
gene_biotype: protein_coding
description:
  Signal recognition particle 54 kDa protein; Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein); Belongs to the GTP-binding SRP family. SRP54 subfamily.


ensembl_gene_id: ENSPPYP00000006539
symbol: SLC25A21
gene_biotype: protein_coding
description:
  Mitochondrial 2-oxodicarboxylate carrier; Transports C5-C7 oxodicarboxylates across the inner membranes of mitochondria. Can transport 2-oxoadipate, 2-oxoglutarate, adipate, glutarate, and to a lesser extent, pimelate, 2-oxopimelate, 2- aminoadipate, oxaloacetate, and citrate (By similarity); Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPPYP00000006547
symbol: SEC23A
gene_biotype: protein_coding
description:
  Protein transport protein Sec23A; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Required for the translocation of insulin-induced glucose transporter SLC2A4/GLUT4 to the cell membrane; Belongs to the SEC23/SEC24 family. SEC23 subfamily.


ensembl_gene_id: ENSPPYP00000006550
symbol: GEMIN2
gene_biotype: protein_coding
description:
  Gem-associated protein 2; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs; Belongs to the gemin-2 family.


ensembl_gene_id: ENSPPYP00000006552
symbol: PNN
gene_biotype: protein_coding
description:
  Pinin; Transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene; the core-binding sequence is 5'CAGGTG-3'. Capable of reversing CTBP1-mediated transcription repression. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Participates in the regulation [...]


ensembl_gene_id: ENSPPYP00000006581
symbol: DNAAF2
gene_biotype: protein_coding
description:
  Protein kintoun; Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.


ensembl_gene_id: ENSPPYP00000006582
symbol: POLE2
gene_biotype: protein_coding
description:
  DNA polymerase epsilon subunit; Participates in DNA repair and in chromosomal DNA replication; Belongs to the DNA polymerase epsilon subunit B family.


ensembl_gene_id: ENSPPYP00000006591
symbol: DMAC2L
gene_biotype: protein_coding
description:
  ATP synthase subunit s, mitochondrial; Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway.


ensembl_gene_id: ENSPPYP00000006594
symbol: MAP4K5
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase kinase 5; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.


ensembl_gene_id: ENSPPYP00000006595
symbol: ATL1
gene_biotype: protein_coding
description:
  Atlastin-1; GTPase tethering membranes through formation of trans- homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development.


ensembl_gene_id: ENSPPYP00000006605
symbol: GNG2
gene_biotype: protein_coding
description:
  Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction (By similarity).


ensembl_gene_id: ENSPPYP00000006606
symbol: RTRAF
gene_biotype: protein_coding
description:
  RNA transcription, translation and transport factor protein; RNA-binding protein involved in modulation of mRNA transcription by Polymerase II. Component of the tRNA-splicing ligase complex and is required for tRNA ligation. May be required for RNA transport.


ensembl_gene_id: ENSPPYP00000006613
symbol: STYX
gene_biotype: protein_coding
description:
  Serine/threonine/tyrosine-interacting protein; Catalytically inactive phosphatase. Acts as a nuclear anchor for MAPK1/MAPK3 (ERK1/ERK2). Modulates cell-fate decisions and cell migration by spatiotemporal regulation of MAPK1/MAPK3 (ERK1/ERK2) (By similarity). Seems to play a role in spermiogenesis (By similarity). Belongs to the protein-tyrosine phosphatase family. Non- receptor class subfamily.


ensembl_gene_id: ENSPPYP00000006621
symbol: CDKN3
gene_biotype: protein_coding
description:
  Cyclin-dependent kinase inhibitor 3; May play a role in cell cycle regulation. Dual specificity phosphatase active toward substrates containing either phosphotyrosine or phosphoserine residues.


ensembl_gene_id: ENSPPYP00000006623
symbol: CNIH1
gene_biotype: protein_coding
description:
  Protein cornichon homolog 1; Involved in the selective transport and maturation of TGF- alpha family proteins.


ensembl_gene_id: ENSPPYP00000006624
symbol: GMFB
gene_biotype: protein_coding
description:
  Glia maturation factor beta; This protein causes differentiation of brain cells, stimulation of neural regeneration, and inhibition of proliferation of tumor cells; Belongs to the actin-binding proteins ADF family. GMF subfamily.


ensembl_gene_id: ENSPPYP00000006629
symbol: SOCS4
gene_biotype: protein_coding
description:
  Suppressor of cytokine signaling 4; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. Substrate- recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Inhibits EGF signaling by mediating the degradation of the Tyr-phosphorylated EGF receptor/EGFR (By similarity).


ensembl_gene_id: ENSPPYP00000006646
symbol: AP5M1
gene_biotype: protein_coding
description:
  Adaptor related protein complex 5 subunit mu 1; Belongs to the adaptor complexes medium subunit family.


ensembl_gene_id: ENSPPYP00000006662
symbol: L3HYPDH
gene_biotype: protein_coding
description:
  Trans-L-3-hydroxyproline dehydratase; Catalyzes the dehydration of trans-3-hydroxy-L-proline to delta-1-pyrroline-2-carboxylate (Pyr2C).


ensembl_gene_id: ENSPPYP00000006678
symbol: MNAT1
gene_biotype: protein_coding
description:
  CDK-activating kinase assembly factor MAT1; Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex.


ensembl_gene_id: ENSPPYP00000006679
symbol: TRMT5
gene_biotype: protein_coding
description:
  tRNA (guanine(37)-N1)-methyltransferase; Specifically methylates the N1 position of guanosine-37 in various cytoplasmic and mitochondrial tRNAs. Methylation is not dependent on the nature of the nucleoside 5' of the target nucleoside. This is the first step in the biosynthesis of wybutosine (yW), a modified base adjacent to the anticodon of tRNAs and required for accurate decoding; Belongs to the TRM5 / TYW2 family.


ensembl_gene_id: ENSPPYP00000006682
symbol: PRKCH
gene_biotype: protein_coding
description:
  Protein kinase C eta type; Calcium-independent, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase that is involved in the regulation of cell differentiation in keratinocytes and pre-B cell receptor, mediates regulation of epithelial tight junction integrity and foam cell formation, and is required for glioblastoma proliferation and apoptosis prevention in MCF-7 cells. In keratinocytes, binds and activates the tyrosine kinase FYN, which in turn blocks epidermal growth factor receptor (EGFR) signaling and leads to keratinocyte growth arrest and differentia [...]


ensembl_gene_id: ENSPPYP00000006705
symbol: MTHFD1
gene_biotype: protein_coding
description:
  C-1-tetrahydrofolate synthase, cytoplasmic; In the C-terminal section; belongs to the formate-- tetrahydrofolate ligase family.


ensembl_gene_id: ENSPPYP00000006713
symbol: CHURC1
gene_biotype: protein_coding
description:
  Protein Churchill; Transcriptional activator that mediates FGF signaling during neural development. Plays a role in the regulation of cell movement. Does not bind DNA by itself (By similarity).


ensembl_gene_id: ENSPPYP00000006718
symbol: CR201_G0009831
gene_biotype: protein_coding
description:
  Protein farnesyltransferase subunit beta; Essential subunit of the farnesyltransferase complex. Catalyzes the transfer of a farnesyl moiety from farnesyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X.


ensembl_gene_id: ENSPPYP00000006721
symbol: FUT8
gene_biotype: protein_coding
description:
  Alpha-(1,6)-fucosyltransferase; Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans.


ensembl_gene_id: ENSPPYP00000006724
symbol: GPHN
gene_biotype: protein_coding
description:
  Molybdopterin molybdenumtransferase; Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.


ensembl_gene_id: ENSPPYP00000006727
symbol: MPP5
gene_biotype: protein_coding
description:
  MAGUK p55 subfamily member 5; Plays a role in tight junction biogenesis and in the establishment of cell polarity in epithelial cells (By similarity). Also involved in adherens junction biogenesis by ensuring correct localization of the exocyst complex protein EXOC4/SEC8 which allows trafficking of adherens junction structural component CDH1 to the cell surface (By similarity). Plays a role through its interaction with CDH5 in vascular lumen formation and endothelial membrane polarity (By similarity). Required during embryonic and postnatal retinal development (By similarity). Required [...]


ensembl_gene_id: ENSPPYP00000006728
symbol: ATP6V1D
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit D; Subunit of the peripheral V1 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium (By similarity).


ensembl_gene_id: ENSPPYP00000006729
symbol: EIF2S1
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 2 subunit 1; Functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S pre- initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF- 2 must exchange with GTP by way of a reaction catalyzed  [...]


ensembl_gene_id: ENSPPYP00000006754
symbol: SLC39A9
gene_biotype: protein_coding
description:
  Zinc transporter ZIP9; May act as a zinc-influx transporter; Belongs to the ZIP transporter (TC 2.A.5) family.


ensembl_gene_id: ENSPPYP00000006767
symbol: COX16
gene_biotype: protein_coding
description:
  Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial; Required for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase. May participate in merging the COX1 and COX2 assembly lines. Belongs to the COX16 family.


ensembl_gene_id: ENSPPYP00000006770
symbol: MED6
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 6; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By similarity).


ensembl_gene_id: ENSPPYP00000006781
symbol: PSEN1
gene_biotype: protein_coding
description:
  Presenilin-1 CTF subunit; Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid- beta precursor protein). Requires the presence of the other members of the gamma-secretase complex for protease activity. Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels. Stimulates cell-cell adhesion via its interaction with CDH1; this stabili [...]


ensembl_gene_id: ENSPPYP00000006793
symbol: PTGR2
gene_biotype: protein_coding
description:
  Prostaglandin reductase 2; Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-keto-PGE1, 15-keto-PGE2, 15-keto-PGE1-alpha and 15-keto-PGE2-alpha with highest activity towards 15-keto-PGE2. Overexpression represses transcriptional activity of PPARG and inhibits adipocyte differentiation (By similarity).


ensembl_gene_id: ENSPPYP00000006807
symbol: ISCA2
gene_biotype: protein_coding
description:
  Iron-sulfur cluster assembly 2 homolog, mitochondrial; Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. May be involved in the binding of an intermediate of Fe/S cluster assembly. Belongs to the HesB/IscA family.


ensembl_gene_id: ENSPPYP00000006810
symbol: FCF1
gene_biotype: protein_coding
description:
  rRNA-processing protein FCF1 homolog; Essential protein involved in pre-rRNA processing and 40S ribosomal subunit assembly; Belongs to the UTP23/FCF1 family. FCF1 subfamily.


ensembl_gene_id: ENSPPYP00000006814
symbol: RPS6KL1
gene_biotype: protein_coding
description:
  Ribosomal protein S6 kinase-like 1; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. S6 kinase subfamily.


ensembl_gene_id: ENSPPYP00000006833
symbol: TTLL5
gene_biotype: protein_coding
description:
  Tubulin polyglutamylase TTLL5; Polyglutamylase which preferentially modifies alpha-tubulin. Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules. Increases the effects of NCOA2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction (By similarity).


ensembl_gene_id: ENSPPYP00000006843
symbol: CIPC
gene_biotype: protein_coding
description:
  CLOCK-interacting pacemaker; Transcriptional repressor which may act as a negative- feedback regulator of CLOCK-ARNTL/BMAL1 transcriptional activity in the circadian-clock mechanism. May stimulate ARNTL/BMAL1-dependent phosphorylation of CLOCK. However, the physiogical relevance of these observations is unsure, since experiments in knockout mice showed that CIPC is not critially required for basic circadian clock.


ensembl_gene_id: ENSPPYP00000006858
symbol: SLIRP
gene_biotype: protein_coding
description:
  SRA stem-loop-interacting RNA-binding protein, mitochondrial; RNA-binding protein that acts as a nuclear receptor corepressor. Probably acts by binding the SRA RNA, and repressing the SRA-mediated nuclear receptor coactivation. Binds the STR7 loop of SRA RNA. Also able to repress glucocorticoid (GR), androgen (AR), thyroid (TR) and VDR-mediated transactivation (By similarity).


ensembl_gene_id: ENSPPYP00000006859
symbol: SNW1
gene_biotype: protein_coding
description:
  SNW domain-containing protein 1; Involved in pre-mRNA splicing as component of the spliceosome. Is required in the specific splicing of CDKN1A pre-mRNA; the function probably involves the recruitment of U2AF2 to the mRNA. Is proposed to recruit PPIL1 to the spliceosome. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. Involved in transcriptional regulation. Modulates TGF-beta-mediated transcription via association with SMAD proteins, MYOD1-mediated transcription via association with PABPN1,  [...]


ensembl_gene_id: ENSPPYP00000006869
symbol: TSHR
gene_biotype: protein_coding
description:
  Thyrotropin receptor; Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin. Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Plays a central role in controlling thyroid cell metabolism. Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.


ensembl_gene_id: ENSPPYP00000006871
symbol: GTF2A1
gene_biotype: protein_coding
description:
  Transcription initiation factor IIA alpha chain; TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation. TFIIA in a complex with TBP mediates transcriptional activity (By similarity); Belongs to the TFIIA subunit 1 family.


ensembl_gene_id: ENSPPYP00000006876
symbol: KCNK10
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 10; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSPPYP00000006890
symbol: KCNK13
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 13; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSPPYP00000006891
symbol: CALM1
gene_biotype: protein_coding
description:
  Calmodulin; Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins by Ca(2+). Among the enzymes to be stimulated by the calmodulin-Ca(2+) complex are a number of protein kinases and phosphatases (By similarity). Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (By similarity).


ensembl_gene_id: ENSPPYP00000006894
symbol: RPS6KA5
gene_biotype: protein_coding
description:
  Ribosomal protein S6 kinase alpha-5; Serine/threonine-protein kinase that is required for the mitogen or stress-induced phosphorylation of the transcription factors CREB1 and ATF1 and for the regulation of the transcription factors RELA, STAT3 and ETV1/ER81, and that contributes to gene activation by histone phosphorylation and functions in the regulation of inflammatory genes. Phosphorylates CREB1 and ATF1 in response to mitogenic or stress stimuli such as UV-C irradiation, epidermal growth factor (EGF) and anisomycin. Plays an essential role in the control of RELA transcriptional act [...]


ensembl_gene_id: ENSPPYP00000006903
symbol: FBLN5
gene_biotype: protein_coding
description:
  Fibulin-5; Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN. Stabilizes and organizes elastic fibers in the skin, lung and vasculature. Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling. May act as an adapter that mediates the interaction between FBN1 and ELN. Belongs to the fibulin family.


ensembl_gene_id: ENSPPYP00000006908
symbol: NDUFB1
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPPYP00000006913
symbol: LGMN
gene_biotype: protein_coding
description:
  Legumain; Has a strict specificity for hydrolysis of asparaginyl bonds. Can also cleave aspartyl bonds slowly, especially under acidic conditions. Required for normal lysosomal protein degradation in renal proximal tubules. Required for normal degradation of internalized EGFR. Plays a role in the regulation of cell proliferation via its role in EGFR degradation. May be involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system (By similarity).


ensembl_gene_id: ENSPPYP00000006931
symbol: DDX24
gene_biotype: protein_coding
description:
  ATP-dependent RNA helicase DDX24; ATP-dependent RNA helicase; Belongs to the DEAD box helicase family. DDX24/MAK5 subfamily.


ensembl_gene_id: ENSPPYP00000006936
symbol: SERPINA10
gene_biotype: protein_coding
description:
  Protein Z-dependent protease inhibitor; Inhibits activity of the coagulation protease factor Xa in the presence of PROZ, calcium and phospholipids. Also inhibits factor XIa in the absence of cofactors (By similarity); Belongs to the serpin family.


ensembl_gene_id: ENSPPYP00000006937
symbol: SERPINA6
gene_biotype: protein_coding
description:
  Corticosteroid-binding globulin; Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species; Belongs to the serpin family.


ensembl_gene_id: ENSPPYP00000006940
symbol: SERPINA1
gene_biotype: protein_coding
description:
  Alpha-1-antitrypsin; Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Inhibits trypsin, chymotrypsin and plasminogen activator (By similarity); Belongs to the serpin family.


ensembl_gene_id: ENSPPYP00000006946
symbol: SERPINA3
gene_biotype: protein_coding
description:
  Alpha-1-antichymotrypsin; Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.


ensembl_gene_id: ENSPPYP00000006977
symbol: EVL
gene_biotype: protein_coding
description:
  Ena/VASP-like protein; Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. EVL enhances actin nucleation and polymerization (By similarity).


ensembl_gene_id: ENSPPYP00000006982
symbol: WARS1
gene_biotype: protein_coding
description:
  Tryptophan--tRNA ligase, cytoplasmic; T1-TrpRS has aminoacylation activity while T2-TrpRS lacks it. T1-TrpRS and T2-TrpRS possess angiostatic activity. T2-TrpRS inhibits fluid shear stress-activated responses of endothelial cells. Regulates ERK, Akt, and eNOS activation pathways that are associated with angiogenesis, cytoskeletal reorganization and shear stress-responsive gene expression (By similarity).


ensembl_gene_id: ENSPPYP00000007013
symbol: TRMT61A
gene_biotype: protein_coding
description:
  tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A; Catalytic subunit of tRNA (adenine-N(1)-)-methyltransferase, which catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA.


ensembl_gene_id: ENSPPYP00000007016
symbol: KLC1
gene_biotype: protein_coding
description:
  Kinesin light chain 1; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity).


ensembl_gene_id: ENSPPYP00000007020
symbol: XRCC3
gene_biotype: protein_coding
description:
  DNA repair protein; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions; Belongs to the RecA family. RAD51 subfamily.


ensembl_gene_id: ENSPPYP00000007034
symbol: ADSS1
gene_biotype: protein_coding
description:
  Adenylosuccinate synthetase isozyme 1; Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first commited step in the biosynthesis of AMP from IMP.


ensembl_gene_id: ENSPPYP00000007035
symbol: SIVA1
gene_biotype: protein_coding
description:
  Apoptosis regulatory protein Siva; Induces CD27-mediated apoptosis. Inhibits BCL2L1 isoform Bcl- x(L) anti-apoptotic activity. Inhibits activation of NF-kappa-B and promotes T-cell receptor-mediated apoptosis.


ensembl_gene_id: ENSPPYP00000007107
symbol: SNRPN
gene_biotype: protein_coding
description:
  Small nuclear ribonucleoprotein-associated protein N; May be involved in tissue-specific alternative RNA processing events; Belongs to the snRNP SmB/SmN family.


ensembl_gene_id: ENSPPYP00000007109
symbol: UBE3A
gene_biotype: protein_coding
description:
  Ubiquitin-protein ligase E3A; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates.


ensembl_gene_id: ENSPPYP00000007113
symbol: GABRA5
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor alpha5 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPPYP00000007115
symbol: GABRG3
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor gamma3 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPPYP00000007120
symbol: APBA2
gene_biotype: protein_coding
description:
  Amyloid-beta A4 precursor protein-binding family A member 2; Putative function in synaptic vesicle exocytosis by binding to STXBP1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta (By similarity).


ensembl_gene_id: ENSPPYP00000007127
symbol: FAN1
gene_biotype: protein_coding
description:
  Fanconi-associated nuclease; Nuclease required for the repair of DNA interstrand cross- links (ICL). Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Belongs to the FAN1 family.


ensembl_gene_id: ENSPPYP00000007160
symbol: AQR
gene_biotype: protein_coding
description:
  RNA helicase aquarius; Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis. Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly. May act by helping the folding of the snoRNA sequence. Binds to intron of pre- mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing.


ensembl_gene_id: ENSPPYP00000007166
symbol: DPH6
gene_biotype: protein_coding
description:
  Diphthine--ammonia ligase; Amidase that catalyzes the last step of diphthamide biosynthesis using ammonium and ATP.


ensembl_gene_id: ENSPPYP00000007182
symbol: SRP14
gene_biotype: protein_coding
description:
  Signal recognition particle 14 kDa protein; Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP. The complex of SRP9 and SRP14 is required for SRP RNA binding (By similarity).


ensembl_gene_id: ENSPPYP00000007186
symbol: PAK6
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase PAK 6; Serine/threonine protein kinase that plays a role in the regulation of gene transcription. The kinase activity is induced by various effectors including AR or MAP2K6/MAPKK6. Phosphorylates the DNA-binding domain of androgen receptor/AR and thereby inhibits AR- mediated transcription. Inhibits also ESR1-mediated transcription. May play a role in cytoskeleton regulation by interacting with IQGAP1. May protect cells from apoptosis through phosphorylation of BAD (By similarity); Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase fam [...]


ensembl_gene_id: ENSPPYP00000007198
symbol: RAD51
gene_biotype: protein_coding
description:
  DNA repair protein RAD51 homolog; Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination. Binds to single and double-stranded DNA and exhibits DNA-dependent ATPase activity. Catalyzes the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template. Binds to single-stranded DNA in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange. Belongs to the RecA family. RAD51 sub [...]


ensembl_gene_id: ENSPPYP00000007199
symbol: RMDN3
gene_biotype: protein_coding
description:
  Regulator of microtubule dynamics protein 3; Involved in cellular calcium homeostasis regulation (By similarity). May participate in differentiation and apoptosis of keratinocytes. Overexpression induces apoptosis (By similarity). Belongs to the RMDN family.


ensembl_gene_id: ENSPPYP00000007210
symbol: CHAC1
gene_biotype: protein_coding
description:
  Gamma-glutamylcyclotransferase; Catalyzes the cleavage of glutathione into 5-oxo-L-proline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides; Belongs to the gamma-glutamylcyclotransferase family.


ensembl_gene_id: ENSPPYP00000007214
symbol: CHP1
gene_biotype: protein_coding
description:
  Calcineurin B homologous protein 1; Calcium-binding protein involved in different processes such as regulation of vesicular trafficking, plasma membrane Na(+)/H(+) exchanger and gene transcription. Involved in the constitutive exocytic membrane traffic. Mediates the association between microtubules and membrane-bound organelles of the endoplasmic reticulum and Golgi apparatus and is also required for the targeting and fusion of transcytotic vesicles (TCV) with the plasma membrane. Functions as an integral cofactor in cell pH regulation by controlling plasma membrane- type Na(+)/H(+) ex [...]


ensembl_gene_id: ENSPPYP00000007219
symbol: RTF1
gene_biotype: protein_coding
description:
  RNA polymerase-associated protein RTF1 homolog; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser- 5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription [...]


ensembl_gene_id: ENSPPYP00000007235
symbol: EHD4
gene_biotype: protein_coding
description:
  EH domain containing 4; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPPYP00000007257
symbol: UBR1
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase; Ubiquitin ligase protein which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N- terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation.


ensembl_gene_id: ENSPPYP00000007258
symbol: CCNDBP1
gene_biotype: protein_coding
description:
  Cyclin-D1-binding protein 1; May negatively regulate cell cycle progression. May act at least in part via inhibition of the cyclin-D1/CDK4 complex, thereby preventing phosphorylation of RB1 and blocking E2F-dependent transcription (By similarity); Belongs to the CCNDBP1 family.


ensembl_gene_id: ENSPPYP00000007270
symbol: PPIP5K1
gene_biotype: protein_coding
description:
  Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1; Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylate [...]


ensembl_gene_id: ENSPPYP00000007284
symbol: WDR76
gene_biotype: protein_coding
description:
  WD repeat-containing protein 76; Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC. Belongs to the WD repeat DDB2/WDR76 family.


ensembl_gene_id: ENSPPYP00000007287
symbol: EIF3J
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit J; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSPPYP00000007289
symbol: B2M
gene_biotype: protein_coding
description:
  Beta-2-microglobulin; Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system.


ensembl_gene_id: ENSPPYP00000007292
symbol: SORD
gene_biotype: protein_coding
description:
  Sorbitol dehydrogenase; Polyol dehydrogenase that catalyzes the reversible NAD(+)- dependent oxidation of various sugar alcohols. Is active with xylitol, L-iditol and D-sorbitol (D-glucitol) as substrates, leading to the C2- oxidized products D-xylulose, L-sorbose and D-fructose, respectively (By similarity). Is a key enzyme in the polyol pathway that interconverts glucose and fructose via sorbitol, which constitutes an important alternate route for glucose metabolism. May play a role in sperm motility by using sorbitol as an alternative energy source for sperm motility (By similarity).


ensembl_gene_id: ENSPPYP00000007300
symbol: SLC28A2
gene_biotype: protein_coding
description:
  Sodium/nucleoside cotransporter; Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family.


ensembl_gene_id: ENSPPYP00000007301
symbol: GATM
gene_biotype: protein_coding
description:
  Glycine amidinotransferase, mitochondrial; Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development (By similarity).


ensembl_gene_id: ENSPPYP00000007306
symbol: CR201_G0046277
gene_biotype: protein_coding
description:
  Biogenesis of lysosome-related organelles complex 1 subunit 6; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particular [...]


ensembl_gene_id: ENSPPYP00000007307
symbol: SEMA6D
gene_biotype: protein_coding
description:
  Semaphorin-6D; Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of neuronal connections (By similarity); Belongs to the semaphorin family.


ensembl_gene_id: ENSPPYP00000007318
symbol: EID1
gene_biotype: protein_coding
description:
  EP300-interacting inhibitor of differentiation 1; Interacts with RB1 and EP300 and acts as a repressor of MYOD1 transactivation. Inhibits EP300 and CBP histone acetyltransferase activity. May be involved in coupling cell cycle exit to the transcriptional activation of genes required for cellular differentiation. May act as a candidate coinhibitory factor for NR0B2 that can be directly linked to transcription inhibitory mechanisms (By similarity).


ensembl_gene_id: ENSPPYP00000007322
symbol: GALK2
gene_biotype: protein_coding
description:
  N-acetylgalactosamine kinase; Acts on GalNAc. Also acts as a galactokinase when galactose is present at high concentrations (By similarity).


ensembl_gene_id: ENSPPYP00000007336
symbol: AP4E1
gene_biotype: protein_coding
description:
  AP-4 complex subunit epsilon; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin- associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.


ensembl_gene_id: ENSPPYP00000007344
symbol: LEO1
gene_biotype: protein_coding
description:
  RNA polymerase-associated protein LEO1; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser- 5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox  [...]


ensembl_gene_id: ENSPPYP00000007346
symbol: MAPK6
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase 6; Atypical MAPK protein. Phosphorylates microtubule-associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPKAPK5, ERK3/MAPK6 is phosphorylated at Ser-189 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK3/MAPK6. May promote entry in the cell cycle (By similarity); Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase s [...]


ensembl_gene_id: ENSPPYP00000007348
symbol: GNB5
gene_biotype: protein_coding
description:
  Guanine nucleotide-binding protein subunit beta-5; Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (Probable). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) dopamine receptors (By similarity). May play an important role in neuronal signaling, incl [...]


ensembl_gene_id: ENSPPYP00000007355
symbol: ARPP19
gene_biotype: protein_coding
description:
  ARPP19 isoform 1; Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. Belongs to the endosulfine family.


ensembl_gene_id: ENSPPYP00000007359
symbol: WDR72
gene_biotype: protein_coding
description:
  WD repeat-containing protein 72; Plays a major role in formation of tooth enamel. Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane.


ensembl_gene_id: ENSPPYP00000007364
symbol: RSL24D1
gene_biotype: protein_coding
description:
  Probable ribosome biogenesis protein RLP24; Involved in the biogenesis of the 60S ribosomal subunit. Ensures the docking of GTPBP4/NOG1 to pre-60S particles (By similarity).


ensembl_gene_id: ENSPPYP00000007368
symbol: CCPG1
gene_biotype: protein_coding
description:
  Cell cycle progression protein 1; Acts as an assembly platform for Rho protein signaling complexes. Limits guanine nucleotide exchange activity of MCF2L toward RHOA, which results in an inhibition of both its transcriptional activation ability and its transforming activity. Does not inhibit activity of MCF2L toward CDC42, or activity of MCF2 toward either RHOA or CDC42. May be involved in cell cycle regulation (By similarity).


ensembl_gene_id: ENSPPYP00000007390
symbol: RNF111
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase Arkadia; E3 ubiquitin-protein ligase (By similarity). Required for mesoderm patterning during embryonic development (By similarity). Acts as an enhancer of the transcriptional responses of the SMAD2/SMAD3 effectors, which are activated downstream of BMP. Acts by mediating ubiquitination and degradation of SMAD inhibitors such as SMAD7, inducing their proteasomal degradation and thereby enhancing the transcriptional activity of TGF-beta and BMP (By similarity). In addition to enhance transcription of SMAD2/SMAD3 effectors, also regulates their turnover by med [...]


ensembl_gene_id: ENSPPYP00000007396
symbol: GTF2A2
gene_biotype: protein_coding
description:
  Transcription initiation factor IIA subunit 2; TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation; Belongs to the TFIIA subunit 2 family.


ensembl_gene_id: ENSPPYP00000007399
symbol: ANXA2
gene_biotype: protein_coding
description:
  Annexin A2; Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response. Inhibits PCSK9-enhanced LDLR degradation, probably reduces PCSK9 protein levels via a translational mechanism but also competes with LDLR for binding with PCSK9; Belongs to the annexin family.


ensembl_gene_id: ENSPPYP00000007417
symbol: APH1B
gene_biotype: protein_coding
description:
  Gamma-secretase subunit APH-1B; Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A (By similarity).


ensembl_gene_id: ENSPPYP00000007424
symbol: SNX1
gene_biotype: protein_coding
description:
  Sorting nexin-1; Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called en [...]


ensembl_gene_id: ENSPPYP00000007433
symbol: OAZ2
gene_biotype: protein_coding
description:
  Ornithine decarboxylase antizyme 2; Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimers. Does not target the ODC monomers for degradation, which allows a protein synthesis-independent restoration of ODC activity (By similarity). Involved in the translocation of AZIN2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol (By similarity).


ensembl_gene_id: ENSPPYP00000007435
symbol: PIF1
gene_biotype: protein_coding
description:
  ATP-dependent DNA helicase PIF1; DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of both mitochondrial and nuclear genome stability. Efficiently unwinds G-quadruplex (G4) DNA structures and forked RNA-DNA hybrids. Resolves G4 structures, preventing replication pausing and double-strand breaks (DSBs) at G4 motifs. Involved in the maintenance of telomeric DNA. Inhibits telomere elongation, de novo telomere formation and telomere addition to DSBs via catalytic inhibition of telomerase. Reduces the processivity of telomerase by displacing active telomerase from DNA [...]


ensembl_gene_id: ENSPPYP00000007444
symbol: CLPX
gene_biotype: protein_coding
description:
  ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial; ATP-dependent specificity component of the Clp protease complex. Hydrolyzes ATP. Targets specific substrates for degradation by the Clp complex. Can perform chaperone functions in the absence of CLPP. Enhances the DNA-binding activity of TFAM and is required for maintaining a normal mitochondrial nucleoid structure. ATP-dependent unfoldase that stimulates the incorporation of the pyridoxal phosphate cofactor into 5-aminolevulinate synthase, thereby activating 5- aminolevulinate (ALA) synthesis, the first step in h [...]


ensembl_gene_id: ENSPPYP00000007450
symbol: HACD3
gene_biotype: protein_coding
description:
  Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3; Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursor [...]


ensembl_gene_id: ENSPPYP00000007454
symbol: RAB11A
gene_biotype: protein_coding
description:
  Ras-related protein Rab-11A; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. The small Rab GTPase RAB11A regulates endocytic recycling. Acts as a major regulator of membrane delivery during cytokinesis. Together with MYO5B and RAB8A participates in epithelial c [...]


ensembl_gene_id: ENSPPYP00000007457
symbol: DIS3L
gene_biotype: protein_coding
description:
  DIS3-like exonuclease 1; Putative cytoplasm-specific catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA.


ensembl_gene_id: ENSPPYP00000007461
symbol: ZWILCH
gene_biotype: protein_coding
description:
  Protein zwilch homolog; Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex (By similarity).


ensembl_gene_id: ENSPPYP00000007466
symbol: AAGAB
gene_biotype: protein_coding
description:
  Alpha- and gamma-adaptin-binding protein p34; May be involved in endocytic recycling of growth factor receptors such as EGFR.


ensembl_gene_id: ENSPPYP00000007498
symbol: PKM
gene_biotype: protein_coding
description:
  Pyruvate kinase PKM; Glycolytic enzyme that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate (PEP) to ADP, generating ATP (By similarity). Stimulates POU5F1-mediated transcriptional activation (By similarity). Promotes in a STAT1-dependent manner, the expression of the immune checkpoint protein CD274 in ARNTL/BMAL1-deficient macrophages (By similarity).


ensembl_gene_id: ENSPPYP00000007500
symbol: PARP6
gene_biotype: protein_coding
description:
  Protein mono-ADP-ribosyltransferase PARP6; Mono-ADP-ribosyltransferase that mediates mono-ADP- ribosylation of target proteins.


ensembl_gene_id: ENSPPYP00000007503
symbol: HEXA
gene_biotype: protein_coding
description:
  Beta-hexosaminidase subunit alpha; Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.


ensembl_gene_id: ENSPPYP00000007525
symbol: STRA6
gene_biotype: protein_coding
description:
  Receptor for retinol uptake STRA6; Functions as retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to the cytoplasmic retinol-binding protein RBP1. Retinol uptake is enhanced by LRAT, an enzyme that converts retinol to all-trans retinyl esters, the storage forms of vitamin A. Contributes to the activation of a signaling cascade that depends on retinol transport and LRAT- dependent generation of retinol metabolites that then trigger activation of JAK2 and i [...]


ensembl_gene_id: ENSPPYP00000007534
symbol: EDC3
gene_biotype: protein_coding
description:
  Enhancer of mRNA-decapping protein 3; Binds single-stranded RNA. Involved in the process of mRNA degradation and in the positive regulation of mRNA decapping (By similarity); Belongs to the EDC3 family.


ensembl_gene_id: ENSPPYP00000007537
symbol: CYP1A2
gene_biotype: protein_coding
description:
  Cytochrome P450 1A2; A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds. Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2-hydroxy E1 and E [...]


ensembl_gene_id: ENSPPYP00000007548
symbol: SCAMP5
gene_biotype: protein_coding
description:
  Secretory carrier-associated membrane protein 5; Required for the calcium-dependent exocytosis of signal sequence-containing cytokines such as CCL5. Probably acts in cooperation with the SNARE machinery (By similarity).


ensembl_gene_id: ENSPPYP00000007558
symbol: SNUPN
gene_biotype: protein_coding
description:
  Snurportin-1; Functions as an U snRNP-specific nuclear import adapter. Involved in the trimethylguanosine (m3G)-cap-dependent nuclear import of U snRNPs. Binds specifically to the terminal m3G-cap U snRNAs. Belongs to the snurportin family.


ensembl_gene_id: ENSPPYP00000007567
symbol: FBXO22
gene_biotype: protein_coding
description:
  F-box only protein 22; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Promotes the proteasome- dependent degradation of key sarcomeric proteins, such as alpha-actinin (ACTN2) and filamin-C (FLNC), essential for maintenance of normal contractile function (By similarity).


ensembl_gene_id: ENSPPYP00000007571
symbol: ETFA
gene_biotype: protein_coding
description:
  Electron transfer flavoprotein subunit alpha, mitochondrial; Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF- ubiquinone oxidoreductase (ETF dehydrogenase). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism.


ensembl_gene_id: ENSPPYP00000007579
symbol: TSPAN3
gene_biotype: protein_coding
description:
  Tetraspanin-3; Regulates the proliferation and migration of oligodendrocytes, a process essential for normal myelination and repair.


ensembl_gene_id: ENSPPYP00000007593
symbol: IDH3A
gene_biotype: protein_coding
description:
  Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial; Catalytic subunit of the enzyme which catalyzes the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers.


ensembl_gene_id: ENSPPYP00000007598
symbol: CRABP1
gene_biotype: protein_coding
description:
  Cellular retinoic acid binding protein 1; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPPYP00000007607
symbol: MORF4L1
gene_biotype: protein_coding
description:
  Mortality factor 4-like protein 1; Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicativ [...]


ensembl_gene_id: ENSPPYP00000007617
symbol: ZFAND6
gene_biotype: protein_coding
description:
  AN1-type zinc finger protein 6; Involved in regulation of TNF-alpha induced NF-kappa-B activation and apoptosis. Involved in modulation of 'Lys-48'-linked polyubiquitination status of TRAF2 and decreases association of TRAF2 with RIPK1. Required for PTS1 target sequence-dependent protein import into peroxisomes and PEX5 stability; may cooperate with PEX6. In vitro involved in PEX5 export from the cytosol to peroxisomes (By similarity).


ensembl_gene_id: ENSPPYP00000007624
symbol: MESD
gene_biotype: protein_coding
description:
  LRP chaperone MESD; Chaperone specifically assisting the folding of beta- propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane. Essential for specification of embryonic polarity and mesoderm induction. Plays an essential role in neuromuscular junction (NMJ) formation by promoting cell-surface expression of LRP4. May regulate phagocytosis of apoptotic retinal pigment epithelium (RPE) cells.


ensembl_gene_id: ENSPPYP00000007627
symbol: IL16
gene_biotype: protein_coding
description:
  Pro-interleukin-16; Interleukin-16 stimulates a migratory response in CD4+ lymphocytes, monocytes, and eosinophils. Primes CD4+ T-cells for IL-2 and IL-15 responsiveness. Also induces T-lymphocyte expression of interleukin 2 receptor. Ligand for CD4.


ensembl_gene_id: ENSPPYP00000007629
symbol: STARD5
gene_biotype: protein_coding
description:
  StAR-related lipid transfer protein 5; May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity).


ensembl_gene_id: ENSPPYP00000007646
symbol: TM6SF1
gene_biotype: protein_coding
description:
  Transmembrane 6 superfamily member 1; May function as sterol isomerase. Belongs to the TM6SF family.


ensembl_gene_id: ENSPPYP00000007658
symbol: MRPL46
gene_biotype: protein_coding
description:
  39S ribosomal protein L46, mitochondrial; Belongs to the mitochondrion-specific ribosomal protein mL46 family.


ensembl_gene_id: ENSPPYP00000007664
symbol: AEN
gene_biotype: protein_coding
description:
  Apoptosis-enhancing nuclease; Exonuclease with activity against single- and double-stranded DNA and RNA. Mediates p53-induced apoptosis. When induced by p53 following DNA damage, digests double-stranded DNA to form single- stranded DNA and amplifies DNA damage signals, leading to enhancement of apoptosis (By similarity).


ensembl_gene_id: ENSPPYP00000007674
symbol: RHCG
gene_biotype: protein_coding
description:
  Ammonium transporter Rh type C; Functions as an electroneutral and bidirectional ammonium transporter. May regulate transepithelial ammonia secretion (By similarity); Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.


ensembl_gene_id: ENSPPYP00000007683
symbol: AP3S2
gene_biotype: protein_coding
description:
  AP-3 complex subunit sigma-2; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (By similarity).


ensembl_gene_id: ENSPPYP00000007685
symbol: IDH2
gene_biotype: protein_coding
description:
  Isocitrate dehydrogenase [NADP]; Belongs to the isocitrate and isopropylmalate dehydrogenases family.


ensembl_gene_id: ENSPPYP00000007688
symbol: NGRN
gene_biotype: protein_coding
description:
  Neugrin; Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system.


ensembl_gene_id: ENSPPYP00000007696
symbol: FES
gene_biotype: protein_coding
description:
  Tyrosine-protein kinase; Belongs to the protein kinase superfamily. Tyr protein kinase family. Fes/fps subfamily.


ensembl_gene_id: ENSPPYP00000007701
symbol: UNC45A
gene_biotype: protein_coding
description:
  Protein unc-45 homolog A; May act as co-chaperone for HSP90 (Potential). Prevents the stimulation of HSP90AB1 ATPase activity by AHSA1. Positive factor in promoting PGR function in the cell (By similarity). May be necessary for proper folding of myosin (Potential). Necessary for normal cell proliferation. Necessary for normal myotube formation and myosin accumulation during muscle cell development. May play a role in erythropoiesis in stroma cells in the spleen (By similarity).


ensembl_gene_id: ENSPPYP00000007709
symbol: ST8SIA2
gene_biotype: protein_coding
description:
  ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSPPYP00000007711
symbol: LOC100460321
gene_biotype: protein_coding
description:
  60S ribosomal protein L13a; Associated with ribosomes but is not required for canonical ribosome function and has extra-ribosomal functions Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma activation and subsequent phosphorylation dissociates from the ribosome and assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppres [...]


ensembl_gene_id: ENSPPYP00000007730
symbol: MEF2A
gene_biotype: protein_coding
description:
  Myocyte-specific enhancer factor 2A; Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Also involved in the activation of numerous growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons, phosphorylate [...]


ensembl_gene_id: ENSPPYP00000007739
symbol: ASB7
gene_biotype: protein_coding
description:
  Ankyrin repeat and SOCS box protein 7; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family.


ensembl_gene_id: ENSPPYP00000007772
symbol: CR201_G0028793
gene_biotype: protein_coding
description:
  Cholesterol side-chain cleavage enzyme, mitochondrial; A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones. Catalyzes three sequential oxidation reactions of cholesterol, namely the hydroxylation at C22 followed with the hydroxylation at C20 to yield 20R,22R- hydroxycholesterol that is further cleaved between C20 and C22 to yield the C21-steroid pregnenolone and 4-methylpentanal. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the se [...]


ensembl_gene_id: ENSPPYP00000007787
symbol: ZSCAN2
gene_biotype: protein_coding
description:
  Zinc finger and SCAN domain-containing protein 2; May be involved in transcriptional regulation during the post-meiotic stages of spermatogenesis; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000007791
symbol: SEC11A
gene_biotype: protein_coding
description:
  Signal peptidase complex catalytic subunit SEC11A; Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.


ensembl_gene_id: ENSPPYP00000007800
symbol: CPEB1
gene_biotype: protein_coding
description:
  Cytoplasmic polyadenylation element-binding protein 1; Sequence-specific RNA-binding protein that regulates mRNA cytoplasmic polyadenylation and translation initiation during oocyte maturation, early development and at postsynapse sites of neurons. Binds to the cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5'-UUUUUAU-3') within the mRNA 3'- UTR. In absence of phosphorylation and in association with TACC3 is also involved as a repressor of translation of CPE-containing mRNA; a repression that is relieved by phosphorylation or degradation [...]


ensembl_gene_id: ENSPPYP00000007818
symbol: PDIA2
gene_biotype: protein_coding
description:
  Protein disulfide-isomerase A2; Acts as an intracellular estrogen-binding protein. May be involved in modulating cellular levels and biological functions of estrogens in the pancreas. May act as a chaperone that inhibits aggregation of misfolded proteins (By similarity); Belongs to the protein disulfide isomerase family.


ensembl_gene_id: ENSPPYP00000007823
symbol: DECR2
gene_biotype: protein_coding
description:
  Peroxisomal 2,4-dienoyl-CoA reductase; Auxiliary enzyme of beta-oxidation. Participates in the degradation of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in peroxisome. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA. Has activity towards short and medium chain 2,4-dienoyl-CoAs, but also towards 2,4,7,10,13,16,19-docosaheptaenoyl-CoA, suggesting that it does not constitute a rate limiting step in the peroxisomal degradation of docosahexaenoic acid.


ensembl_gene_id: ENSPPYP00000007834
symbol: RHOT2
gene_biotype: protein_coding
description:
  Mitochondrial Rho GTPase; Mitochondrial GTPase involved in mitochondrial trafficking. Belongs to the mitochondrial Rho GTPase family.


ensembl_gene_id: ENSPPYP00000007848
symbol: CIAO3
gene_biotype: protein_coding
description:
  Cytosolic iron-sulfur assembly component 3; Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. Seems to negatively regulate the level of HIF1A expression, although this effect could be indirect (By similarity); Belongs to the NARF family.


ensembl_gene_id: ENSPPYP00000007866
symbol: TSR3
gene_biotype: protein_coding
description:
  Probable ribosome biogenesis protein C16orf42 homolog; Probable pre-rRNA processing protein involved in ribosome biogenesis.


ensembl_gene_id: ENSPPYP00000007885
symbol: NUBP2
gene_biotype: protein_coding
description:
  Cytosolic Fe-S cluster assembly factor NUBP2; Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery. Required for maturation of extramitochondrial Fe-S proteins. The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins; Belongs to the Mrp/NBP35 ATP-binding proteins family. NUBP2/CFD1 subfamily.


ensembl_gene_id: ENSPPYP00000007888
symbol: FAHD1
gene_biotype: protein_coding
description:
  Acylpyruvase FAHD1, mitochondrial; Probable mitochondrial acylpyruvase which is able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro. Also has oxaloacetate decarboxylase activity; Belongs to the FAH family.


ensembl_gene_id: ENSPPYP00000007893
symbol: MSRB1
gene_biotype: protein_coding
description:
  Methionine-R-sulfoxide reductase B1; Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residue. Acts as a regulator of actin assembly by reducing methionine (R)-sulfoxide mediated by MICALs (MICAL1, MICAL2 or MICAL3) on actin, thereby promoting filament repolymerization. Plays a role in innate immunity by reducing oxidized actin, leading to a [...]


ensembl_gene_id: ENSPPYP00000007895
symbol: NDUFB10
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPPYP00000007905
symbol: SLC9A3R2
gene_biotype: protein_coding
description:
  Na(+)/H(+) exchange regulatory cofactor NHE-RF; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression.


