# geneInfo

ensembl_gene_id: ENSPPYP00000016651
symbol: HSD17B11
gene_biotype: protein_coding
description:
  Estradiol 17-beta-dehydrogenase 11; Can convert androstan-3-alpha,17-beta-diol (3-alpha-diol) to androsterone in vitro, suggesting that it may participate in androgen metabolism during steroidogenesis. May act by metabolizing compounds that stimulate steroid synthesis and/or by generating metabolites that inhibit it. Has no activity toward DHEA (dehydroepiandrosterone), or A- dione (4-androste-3,17-dione), and only a slight activity toward testosterone to A-dione (By similarity); Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.


ensembl_gene_id: ENSPPYP00000016662
symbol: PPM1K
gene_biotype: protein_coding
description:
  Protein phosphatase 1K, mitochondrial; Regulates the mitochondrial permeability transition pore and is essential for cellular survival and development.


ensembl_gene_id: ENSPPYP00000016673
symbol: SNCA
gene_biotype: protein_coding
description:
  Alpha-synuclein; May be involved in the regulation of dopamine release and transport; Belongs to the synuclein family.


ensembl_gene_id: ENSPPYP00000016682
symbol: PDHA2
gene_biotype: protein_coding
description:
  Pyruvate dehydrogenase E1 component subunit alpha; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2).


ensembl_gene_id: ENSPPYP00000016687
symbol: METAP1
gene_biotype: protein_coding
description:
  Methionine aminopeptidase 1; 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).


ensembl_gene_id: ENSPPYP00000016688
symbol: ADH5
gene_biotype: protein_coding
description:
  S-(hydroxymethyl)glutathione dehydrogenase; Belongs to the zinc-containing alcohol dehydrogenase family. Class-III subfamily.


ensembl_gene_id: ENSPPYP00000016690
symbol: ADH6
gene_biotype: protein_coding
description:
  Alcohol dehydrogenase 6; Belongs to the zinc-containing alcohol dehydrogenase family. Class-V subfamily.


ensembl_gene_id: ENSPPYP00000016698
symbol: LAMTOR3
gene_biotype: protein_coding
description:
  Ragulator complex protein LAMTOR3; 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. Adapter protein that enhances the efficiency of the MAP k [...]


ensembl_gene_id: ENSPPYP00000016700
symbol: DNAJB14
gene_biotype: protein_coding
description:
  DnaJ homolog subfamily B member 14; Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum- associated degradation (ERAD) pathway. Acts by determining HSPA8/Hsc70's ATPase and polypeptide-binding activities. Can also act independently of HSPA8/Hsc70: together with DNAJB12, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers. While stabilization of na [...]


ensembl_gene_id: ENSPPYP00000016702
symbol: H2AZ1
gene_biotype: protein_coding
description:
  Histone H2A.Z; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. 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. May be involved in the formation of constitutive heterochromatin. May be required for c [...]


ensembl_gene_id: ENSPPYP00000016703
symbol: DDIT4L
gene_biotype: protein_coding
description:
  DNA damage-inducible transcript 4-like protein; Inhibits cell growth by regulating the TOR signaling pathway upstream of the TSC1-TSC2 complex and downstream of AKT1. Belongs to the DDIT4 family.


ensembl_gene_id: ENSPPYP00000016704
symbol: EMCN
gene_biotype: protein_coding
description:
  Endomucin; Endothelial sialomucin, also called endomucin or mucin-like sialoglycoprotein, which interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix.


ensembl_gene_id: ENSPPYP00000016715
symbol: UBE2D3
gene_biotype: protein_coding
description:
  Ubiquitin-conjugating enzyme E2 D3; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'-, as well as 'Lys-48'-linked polyubiquitination. Cooperates with the E2 CDC34 and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation. Acts as an initiator E2, priming the phosphorylated NFKBIA target at positions 'Lys-21' and/or 'Lys-22' with a monoubiquitin. Ubiquitin chain elongation is then performed by CDC34, building ubiquitin chains from the UBE2D3-primed [...]


ensembl_gene_id: ENSPPYP00000016719
symbol: SLC9B2
gene_biotype: protein_coding
description:
  Sodium/hydrogen exchanger 9B2; Na+/H+ antiporter that extrudes Na(+) or Li(+) in exchange for external protons across the membrane. Contributes to the regulation of intracellular pH, Na(+) content and organellar volume. Plays an important role for insulin secretion and clathrin-mediated endocytosis in beta-cells. Involved in sperm motility and fertility. It is controversial whether SLC9B2 plays a role in osteoclast differentiation or not (By similarity).


ensembl_gene_id: ENSPPYP00000016727
symbol: INTS12
gene_biotype: protein_coding
description:
  Integrator complex subunit 12; 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 recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex.


ensembl_gene_id: ENSPPYP00000016729
symbol: NPNT
gene_biotype: protein_coding
description:
  Nephronectin; Functional ligand of integrin alpha-8/beta-1 in kidney development. Regulates the expression of GDNF with integrin alpha- 8/beta-1 which is essential for kidney development. May also play a role in the development and function of various tissues, regulating cell adhesion, spreading and survival through the binding of several integrins (By similarity); Belongs to the nephronectin family.


ensembl_gene_id: ENSPPYP00000016741
symbol: ETNPPL
gene_biotype: protein_coding
description:
  Ethanolamine-phosphate phospho-lyase; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSPPYP00000016746
symbol: CFI
gene_biotype: protein_coding
description:
  Complement factor I heavy chain; Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively.


ensembl_gene_id: ENSPPYP00000016749
symbol: GAR1
gene_biotype: protein_coding
description:
  H/ACA ribonucleoprotein complex subunit; Required for ribosome biogenesis. Part of a complex which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Pseudouridine (psi) residues may serve to stabilize the conformation of rRNAs.


ensembl_gene_id: ENSPPYP00000016750
symbol: RRH
gene_biotype: protein_coding
description:
  Retinal pigment epithelium-derived rhodopsin homolog; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPPYP00000016752
symbol: EGF
gene_biotype: protein_coding
description:
  Pro-epidermal growth factor; EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6.


ensembl_gene_id: ENSPPYP00000016753
symbol: ELOVL6
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 6; 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 elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degre [...]


ensembl_gene_id: ENSPPYP00000016777
symbol: METTL14
gene_biotype: protein_coding
description:
  N6-adenosine-methyltransferase non-catalytic subunit; The METTL3-METTL14 heterodimer forms a N6-methyltransferase complex that methylates adenosine residues at the N(6) position of some mRNAs and regulates the circadian clock, differentiation of embryonic stem cells and cortical neurogenesis. In the heterodimer formed with METTL3, METTL14 constitutes the RNA-binding scaffold that recognizes the substrate rather than the catalytic core. N6-methyladenosine (m6A), which takes place at the 5'-[AG]GAC-3' consensus sites of some mRNAs, plays a role in mRNA stability and processing (By simila [...]


ensembl_gene_id: ENSPPYP00000016781
symbol: MYOZ2
gene_biotype: protein_coding
description:
  Myozenin-2; Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma- filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis (By similarity).


ensembl_gene_id: ENSPPYP00000016786
symbol: FABP2
gene_biotype: protein_coding
description:
  Fatty acid binding protein 2; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPPYP00000016799
symbol: BBS7
gene_biotype: protein_coding
description:
  Bardet-Biedl syndrome 7 protein homolog; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function.


ensembl_gene_id: ENSPPYP00000016800
symbol: TRPC3
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily C member 3; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPPYP00000016803
symbol: IL2
gene_biotype: protein_coding
description:
  Interleukin-2; Produced by T-cells in response to antigenic or mitogenic stimulation, this protein is required for T-cell proliferation and other activities crucial to regulation of the immune response. Belongs to the IL-2 family.


ensembl_gene_id: ENSPPYP00000016807
symbol: BBS12
gene_biotype: protein_coding
description:
  Bardet-Biedl syndrome 12 protein homolog; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play 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: ENSPPYP00000016820
symbol: PLK4
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase PLK4; Serine/threonine-protein kinase that plays a central role in centriole duplication. Able to trigger procentriole formation on the surface of the parental centriole cylinder, leading to the recruitment of centriole biogenesis proteins such as SASS6, CENPJ/CPAP, CCP110, CEP135 and gamma-tubulin. When overexpressed, it is able to induce centrosome amplification through the simultaneous generation of multiple procentrioles adjoining each parental centriole during S phase. Phosphorylates 'Ser-151' of FBXW5 during the G1/S transition, leading to inhibit  [...]


ensembl_gene_id: ENSPPYP00000016831
symbol: SLC7A11
gene_biotype: protein_coding
description:
  Cystine/glutamate transporter; Sodium-independent, high-affinity exchange of anionic amino acids with high specificity for anionic form of cystine and glutamate.


ensembl_gene_id: ENSPPYP00000016836
symbol: NDUFC1
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 subunit C1, 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: ENSPPYP00000016837
symbol: NAA15
gene_biotype: protein_coding
description:
  N-alpha-acetyltransferase 15, NatA auxiliary subunit; Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. The NAT activity may be important for vascular, hematopoietic and neuronal growth and development. Required to control retinal neovascularization in adult ocular endothelial cells. In complex with XRCC6 and XRCC5 (Ku80), up-regulates transcription from the osteocalcin promoter (By similarity).


ensembl_gene_id: ENSPPYP00000016838
symbol: RAB33B
gene_biotype: protein_coding
description:
  Ras-related protein Rab-33B; Protein transport. Acts, in coordination with RAB6A, to regulate intra-Golgi retrograde trafficking (By similarity). It is involved in autophagy, acting as a modulator of autophagosome formation (By similarity); Belongs to the small GTPase superfamily. Rab family.


ensembl_gene_id: ENSPPYP00000016839
symbol: SETD7
gene_biotype: protein_coding
description:
  Histone-lysine N-methyltransferase SETD7; Histone methyltransferase that specifically monomethylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes.


ensembl_gene_id: ENSPPYP00000016852
symbol: INPP4B
gene_biotype: protein_coding
description:
  Type II inositol 3,4-bisphosphate 4-phosphatase; Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate and inositol 3,4-bisphosphate (By similarity). Plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3,4-bisphosphate in membrane ruffles (By similarity). Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (By similarity).


ensembl_gene_id: ENSPPYP00000016864
symbol: ANAPC10
gene_biotype: protein_coding
description:
  Anaphase-promoting complex subunit 10; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin-protein ligase complex that controls progression through mitosis and the G1 phase of the cell cycle.


ensembl_gene_id: ENSPPYP00000016875
symbol: SLC10A7
gene_biotype: protein_coding
description:
  Sodium/bile acid cotransporter; Does not show transport activity towards bile acids or steroid sulfates; Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family.


ensembl_gene_id: ENSPPYP00000016880
symbol: TMEM184C
gene_biotype: protein_coding
description:
  Transmembrane protein 184C; Possible tumor suppressor which may play a role in cell growth; Belongs to the TMEM184 family.


ensembl_gene_id: ENSPPYP00000016881
symbol: PRMT9
gene_biotype: protein_coding
description:
  PRMT9 isoform 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSPPYP00000016899
symbol: GATB
gene_biotype: protein_coding
description:
  Glutamyl-tRNA(Gln) amidotransferase subunit B, 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 GatB/GatE family. GatB subfamily.


ensembl_gene_id: ENSPPYP00000016908
symbol: MND1
gene_biotype: protein_coding
description:
  Meiotic nuclear division protein 1 homolog; Required for proper homologous chromosome pairing and efficient cross-over and intragenic recombination during meiosis. Belongs to the MND1 family.


ensembl_gene_id: ENSPPYP00000016927
symbol: ASIC5
gene_biotype: protein_coding
description:
  Acid sensing ion channel subunit family member 5; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSPPYP00000016928
symbol: TDO2
gene_biotype: protein_coding
description:
  Tryptophan 2,3-dioxygenase; Heme-dependent dioxygenase that catalyzes the oxidative cleavage of the L-tryptophan (L-Trp) pyrrole ring and converts L- tryptophan to N-formyl-L-kynurenine. Catalyzes the oxidative cleavage of the indole moiety.


ensembl_gene_id: ENSPPYP00000016932
symbol: GRIA2
gene_biotype: protein_coding
description:
  Glutamate receptor 2; Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of  [...]


ensembl_gene_id: ENSPPYP00000016938
symbol: RXFP1
gene_biotype: protein_coding
description:
  Relaxin receptor 1; Receptor for relaxins. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. Binding of the ligand may also activate a tyrosine kinase pathway that inhibits the activity of a phosphodiesterase that degrades cAMP (By similarity).


ensembl_gene_id: ENSPPYP00000016941
symbol: ETFDH
gene_biotype: protein_coding
description:
  Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial; Accepts electrons from ETF and reduces ubiquinone. Belongs to the ETF-QO/FixC family.


ensembl_gene_id: ENSPPYP00000016960
symbol: MSMO1
gene_biotype: protein_coding
description:
  Methylsterol monooxygenase 1; Catalyzes the first step in the removal of the two C-4 methyl groups of 4,4-dimethylzymosterol; Belongs to the sterol desaturase family.


ensembl_gene_id: ENSPPYP00000016964
symbol: SPOCK3
gene_biotype: protein_coding
description:
  Testican-3; May participate in diverse steps of neurogenesis. Inhibits the processing of pro-matrix metalloproteinase 2 (MMP-2) by MT1-MMP and MT3-MMP. May interfere with tumor invasion (By similarity).


ensembl_gene_id: ENSPPYP00000016972
symbol: SH3RF1
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase SH3RF1; Has E3 ubiquitin-protein ligase activity. In the absence of an external substrate, it can catalyze self-ubiquitination. Stimulates ubiquitination of potassium channel KCNJ1, enhancing it's dynamin- dependent and clathrin-independent endocytosis. Acts as a scaffold protein that coordinates with MAPK8IP1/JIP1 in organizing different components of the JNK pathway, including RAC1 or RAC2, MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and/or MAPK9/JNK2 into a functional multiprotein complex to ensure the effective activation of the JNK signaling pa [...]


ensembl_gene_id: ENSPPYP00000016975
symbol: CLCN3
gene_biotype: protein_coding
description:
  H(+)/Cl(-) exchange transporter 3; Mediates the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the endosome and synaptic vesicle lumen, and may thereby affect vesicle trafficking and exocytosis. May play an important role in neuronal cell function through regulation of membrane excitability by protein kinase C. It could help neuronal cells to establish short-term memory (By similarity).


ensembl_gene_id: ENSPPYP00000016986
symbol: GALNT7
gene_biotype: protein_coding
description:
  N-acetylgalactosaminyltransferase 7; Glycopeptide transferase involved in O-linked oligosaccharide biosynthesis, which catalyzes the transfer of an N-acetyl-D- galactosamine residue to an already glycosylated peptide. In contrast to other proteins of the family, it does not act as a peptide transferase that transfers GalNAc onto serine or threonine residue on the protein receptor, but instead requires the prior addition of a GalNAc on a peptide before adding additional GalNAc moieties. Some peptide transferase activity is however not excluded, considering that its appropriate peptide s [...]


ensembl_gene_id: ENSPPYP00000016993
symbol: HPGD
gene_biotype: protein_coding
description:
  15-hydroxyprostaglandin dehydrogenase; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPPYP00000016996
symbol: GPM6A
gene_biotype: protein_coding
description:
  Neuronal membrane glycoprotein M6-a; Involved in neuronal differentiation, including differentiation and migration of neuronal stem cells. Plays a role in neuronal plasticity and is involved in neurite and filopodia outgrowth, filopodia motility and probably synapse formation. GPM6A-induced filopodia formation involves mitogen-activated protein kinase (MAPK) and Src signaling pathways. May be involved in neuronal NGF-dependent Ca(2+) influx. May be involved in regulation of endocytosis and intracellular trafficking of G-protein-coupled receptors (GPCRs); enhances internalization and re [...]


ensembl_gene_id: ENSPPYP00000017018
symbol: ENPP6
gene_biotype: protein_coding
description:
  Glycerophosphocholine cholinephosphodiesterase ENPP6; Choline-specific glycerophosphodiesterase that hydrolyzes glycerophosphocholine (GPC) and lysophosphatidylcholine (LPC) and contributes to supplying choline to the cells. Has a preference for LPC with short (12:0 and 14:0) or polyunsaturated (18:2 and 20:4) fatty acids. In vitro, hydrolyzes only choline-containing lysophospholipids, such as sphingosylphosphorylcholine (SPC), platelet-activating factor (PAF) and lysoPAF, but not other lysophospholipids.


ensembl_gene_id: ENSPPYP00000017034
symbol: UFSP2
gene_biotype: protein_coding
description:
  Ufm1-specific protease 2; Thiol protease which recognizes and hydrolyzes the peptide bond at the C-terminal Gly of UFM1, a ubiquitin-like modifier protein bound to a number of target proteins. Does not hydrolyze SUMO1 or ISG15 ubiquitin-like proteins. Through TRIP4 deufmylation may regulate intracellular nuclear receptors transactivation and thereby regulate cell proliferation and differentiation.


ensembl_gene_id: ENSPPYP00000017045
symbol: CYP4V2
gene_biotype: protein_coding
description:
  Cytochrome P450 4V2; Omega-hydroxylase that oxidizes medium-chain saturated fatty acids and polyunsaturated omega-3 fatty acids, and which plays a role in fatty acid and steroid metabolism in the eye. Catalyzes the omega- hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate (C14>C16>C12). Acts as a polyunsaturated omega-3 fatty acids hydroxylase by mediating oxidation of docosahexaenoate (DHA) to 22- hydroxydocosahexaenoate. Also produces some 2 [...]


ensembl_gene_id: ENSPPYP00000017052
symbol: LOC100447051
gene_biotype: protein_coding
description:
  Peroxiredoxin-6; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. Also has phospholipase activity, and can therefore either reduce the oxidized sn-2 fatty acyl grup of phospholipids (peroxidase activity) or hydrolyze the sn-2 ester bond of phospholipids (phospholipase activity). These activities are dependent on binding to phospholipids at acidic pH and to oxidized phospholipds at cytosolic pH. Plays a role  [...]


ensembl_gene_id: ENSPPYP00000017089
symbol: SDHA
gene_biotype: protein_coding
description:
  Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial; Flavoprotein (FP) 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). Can act as a tumor suppressor. Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily.


ensembl_gene_id: ENSPPYP00000017106
symbol: SLC6A19
gene_biotype: protein_coding
description:
  Sodium-dependent neutral amino acid transporter B(0)AT1; Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells. This uptake is sodium-dependent and chloride-independent. Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity.


ensembl_gene_id: ENSPPYP00000017108
symbol: TERT
gene_biotype: protein_coding
description:
  Telomerase reverse transcriptase; Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nuc [...]


ensembl_gene_id: ENSPPYP00000017110
symbol: CLPTM1L
gene_biotype: protein_coding
description:
  Cleft lip and palate transmembrane protein 1-like protein; Enhances cisplatin-mediated apoptosis, when overexpressed. Belongs to the CLPTM1 family.


ensembl_gene_id: ENSPPYP00000017117
symbol: NDUFS6
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, 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: ENSPPYP00000017124
symbol: MED10
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 10; 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: ENSPPYP00000017138
symbol: CCT5
gene_biotype: protein_coding
description:
  T-complex protein 1 subunit epsilon; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. The TRiC complex plays a role in the folding of actin and tubulin.


ensembl_gene_id: ENSPPYP00000017140
symbol: CMBL
gene_biotype: protein_coding
description:
  Carboxymethylenebutenolidase homolog; Cysteine hydrolase; Belongs to the dienelactone hydrolase family.


ensembl_gene_id: ENSPPYP00000017141
symbol: MARCHF6
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase MARCHF6; E3 ubiquitin-protein ligase that promotes 'Lys-48'-linked ubiquitination of target proteins, leading to their proteasomal degradation. Promotes ubiquitination of DIO2, leading to its degradation. Promotes ubiquitination of SQLE, leading to its degradation. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May cooperate with UBE2G1.


ensembl_gene_id: ENSPPYP00000017173
symbol: MTMR12
gene_biotype: protein_coding
description:
  Myotubularin-related protein 12; Acts as an adapter for the myotubularin-related phosphatases. Regulates phosphatase MTM1 protein stability and possibly its intracellular location. By stabilizing MTM1 protein levels, required for skeletal muscle maintenance but not for myogenesis.


ensembl_gene_id: ENSPPYP00000017176
symbol: ZFR
gene_biotype: protein_coding
description:
  Zinc finger RNA-binding protein; Involved in postimplantation and gastrulation stages of development. Involved in the nucleocytoplasmic shuttling of STAU2. Binds to DNA and RNA (By similarity).


ensembl_gene_id: ENSPPYP00000017177
symbol: SUB1
gene_biotype: protein_coding
description:
  Activated RNA polymerase II transcriptional coactivator p15; General coactivator that functions cooperatively with TAFs and mediates functional interactions between upstream activators and the general transcriptional machinery. May be involved in stabilizing the multiprotein transcription complex. Binds single-stranded DNA. Also binds, in vitro, non-specifically to double-stranded DNA (ds DNA) (By similarity).


ensembl_gene_id: ENSPPYP00000017189
symbol: RAD1
gene_biotype: protein_coding
description:
  Cell cycle checkpoint protein RAD1; Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavag [...]


ensembl_gene_id: ENSPPYP00000017190
symbol: BRIX1
gene_biotype: protein_coding
description:
  Ribosome biogenesis protein BRX1 homolog; Required for biogenesis of the 60S ribosomal subunit. Belongs to the BRX1 family.


ensembl_gene_id: ENSPPYP00000017192
symbol: AGXT2
gene_biotype: protein_coding
description:
  Alanine--glyoxylate aminotransferase 2, mitochondrial; Can metabolize asymmetric dimethylarginine (ADMA) via transamination to alpha-keto-delta-(NN-dimethylguanidino) valeric acid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure (By similarity); Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSPPYP00000017204
symbol: NADK2
gene_biotype: protein_coding
description:
  NAD kinase 2, mitochondrial; Mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+). Can use both ATP or inorganic polyphosphate as the phosphoryl donor.


ensembl_gene_id: ENSPPYP00000017227
symbol: PRKAA1
gene_biotype: protein_coding
description:
  5'-AMP-activated protein kinase catalytic subunit alpha-1; 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: ENSPPYP00000017232
symbol: C7
gene_biotype: protein_coding
description:
  Complement component C7; Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C7 serves as a membrane anchor (By similarity).


ensembl_gene_id: ENSPPYP00000017238
symbol: OXCT1
gene_biotype: protein_coding
description:
  Succinyl-CoA:3-ketoacid-coenzyme A transferase; Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate.


ensembl_gene_id: ENSPPYP00000017249
symbol: ZNF131
gene_biotype: protein_coding
description:
  Zinc finger protein 131; May be involved in transcriptional regulation as a repressor of ESR1/ER-alpha signaling. Plays a role during development and organogenesis as well as in the function of the adult central nervous system (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000017251
symbol: HMGCS1
gene_biotype: protein_coding
description:
  Hydroxymethylglutaryl-CoA synthase, cytoplasmic; This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase.


ensembl_gene_id: ENSPPYP00000017265
symbol: PELO
gene_biotype: protein_coding
description:
  Protein pelota homolog; Required for normal chromosome segregation during cell division and genomic stability (By similarity). May function in recognizing stalled ribosomes and triggering endonucleolytic cleavage of the mRNA, a mechanism to release non-functional ribosomes and degrade damaged mRNAs. May have ribonuclease activity (Potential). Belongs to the eukaryotic release factor 1 family. Pelota subfamily.


ensembl_gene_id: ENSPPYP00000017268
symbol: MOCS2
gene_biotype: protein_coding
description:
  Molybdopterin synthase catalytic subunit; Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group; Belongs to the MoaE family. MOCS2B subfamily.


ensembl_gene_id: ENSPPYP00000017276
symbol: HSPB3
gene_biotype: protein_coding
description:
  Heat shock protein family B (small) member 3; Belongs to the small heat shock protein (HSP20) family.


ensembl_gene_id: ENSPPYP00000017284
symbol: DHX29
gene_biotype: protein_coding
description:
  ATP-dependent RNA helicase DHX29; ATP-binding RNA helicase involved in translation initiation. Part of the 43S pre-initiation complex that is required for efficient initiation on mRNAs of higher eukaryotes with structured 5'-UTRs by promoting efficient NTPase-dependent 48S complex formation. Specifically binds to the 40S ribosome near the mRNA entrance. Does not possess a processive helicase activity; Belongs to the DEAD box helicase family. DEAH subfamily.


ensembl_gene_id: ENSPPYP00000017295
symbol: SETD9
gene_biotype: protein_coding
description:
  SET domain-containing protein 9; Belongs to the class V-like SAM-binding methyltransferase superfamily.


ensembl_gene_id: ENSPPYP00000017300
symbol: PLK2
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase PLK2; Tumor suppressor serine/threonine-protein kinase involved in synaptic plasticity, centriole duplication and G1/S phase transition. Polo-like kinases act by binding and phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates CENPJ, NPM1, RAPGEF2, RASGRF1, SNCA, SIPA1L1 and SYNGAP1. Plays a key role in synaptic plasticity and memory by regulating the Ras and Rap protein signaling: required for overactivity-dependent spine remodeling by phosphorylating the Ras activator RASGRF1 an [...]


ensembl_gene_id: ENSPPYP00000017308
symbol: ELOVL7
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 7; 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 C18:3(n-3) acyl-CoAs and C18:3(n-6)-CoAs. Also active toward C20:4-, C18:0-, C18:1-, C18:2- and C16:0-CoAs, and weakly toward C20:0-CoA. Little or no activity toward C22:0-, C24:0 [...]


ensembl_gene_id: ENSPPYP00000017314
symbol: KIF2A
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF2A; Plus end-directed microtubule-dependent motor required for normal brain development. May regulate microtubule dynamics during axonal growth. Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate. Required for normal spindle dynamics during mitosis. Promotes spindle turnover. Implicated in formation of bipolar mitotic spindles. Has microtubule depolymerization activity (By similarity).


ensembl_gene_id: ENSPPYP00000017319
symbol: RNF180
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RNF180; E3 ubiquitin-protein ligase which promotes polyubiquitination and degradation by the proteasome pathway of ZIC2.


ensembl_gene_id: ENSPPYP00000017324
symbol: CWC27
gene_biotype: protein_coding
description:
  Spliceosome-associated protein CWC27 homolog; As part of the spliceosome, plays a role in pre-mRNA splicing. Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity.


ensembl_gene_id: ENSPPYP00000017328
symbol: PPWD1
gene_biotype: protein_coding
description:
  Peptidylprolyl isomerase domain and WD repeat-containing protein 1; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. May be involved in pre-mRNA splicing.


ensembl_gene_id: ENSPPYP00000017333
symbol: NLN
gene_biotype: protein_coding
description:
  Neurolysin, mitochondrial; Hydrolyzes oligopeptides such as neurotensin, bradykinin and dynorphin A; Belongs to the peptidase M3 family.


ensembl_gene_id: ENSPPYP00000017341
symbol: PIK3R1
gene_biotype: protein_coding
description:
  Phosphatidylinositol 3-kinase regulatory subunit alpha; Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signaling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signaling. Modulates the cellular response to ER stress by promoting nuclear translocation [...]


ensembl_gene_id: ENSPPYP00000017351
symbol: AK6
gene_biotype: protein_coding
description:
  Adenylate kinase isoenzyme 6; Broad-specificity nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. May have a role in nuclear energy homeostasis. Has also ATPase activity. May be involved in regulation of Cajal body (CB) formation; Belongs to the adenylate kinase family. AK6 subfamily.


ensembl_gene_id: ENSPPYP00000017352
symbol: RAD17
gene_biotype: protein_coding
description:
  Cell cycle checkpoint protein RAD17; Essential for sustained cell growth, maintenance of chromosomal stability, and ATR-dependent checkpoint activation upon DNA damage. Has a weak ATPase activity required for binding to chromatin. Participates in the recruitment of the RAD1-RAD9-HUS1 complex and RHNO1 onto chromatin, and in CHEK1 activation. May also serve as a sensor of DNA replication progression, and may be involved in homologous recombination (By similarity); Belongs to the rad17/RAD24 family.


ensembl_gene_id: ENSPPYP00000017356
symbol: OCLN
gene_biotype: protein_coding
description:
  Occludin; May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier.


ensembl_gene_id: ENSPPYP00000017360
symbol: SMN1
gene_biotype: protein_coding
description:
  Survival motor neuron protein; 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. 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 cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the ch [...]


ensembl_gene_id: ENSPPYP00000017373
symbol: PTCD2
gene_biotype: protein_coding
description:
  Pentatricopeptide repeat-containing protein 2, mitochondrial; Involved in mitochondrial RNA maturation and mitochondrial respiratory chain function; Belongs to the PTCD2 family.


ensembl_gene_id: ENSPPYP00000017377
symbol: FCHO2
gene_biotype: protein_coding
description:
  F-BAR domain only protein 2; Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a lipid-binding activity with a preference for membranes enriched in phosphatidylserine and phosphoinositides (Pi(4,5) biphosphate) like the plasma membrane. Its membrane-bending activity might be important for the subsequent action of clathrin and adaptors in the formation of clathrin-coated vesicles. Involved in adaptor protein complex AP-2- dependen [...]


ensembl_gene_id: ENSPPYP00000017381
symbol: UTP15
gene_biotype: protein_coding
description:
  U3 small nucleolar RNA-associated protein 15 homolog; Involved in nucleolar processing of pre-18S ribosomal RNA.


ensembl_gene_id: ENSPPYP00000017390
symbol: GFM2
gene_biotype: protein_coding
description:
  Ribosome-releasing factor 2, mitochondrial; Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis. Acts in collaboration with MRRF. GTP hydrolysis follows the ribosome disassembly and probably occurs on the ribosome large subunit. Not involved in the GTP-dependent ribosomal translocation step during translation elongation.


ensembl_gene_id: ENSPPYP00000017394
symbol: HMGCR
gene_biotype: protein_coding
description:
  3-hydroxy-3-methylglutaryl-coenzyme A reductase; Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in the biosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone and geranylgeranyl proteins; Belongs to the HMG-CoA reductase family.


ensembl_gene_id: ENSPPYP00000017396
symbol: CERT1
gene_biotype: protein_coding
description:
  Ceramide transfer protein; Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner.


ensembl_gene_id: ENSPPYP00000017409
symbol: CRHBP
gene_biotype: protein_coding
description:
  Corticotropin-releasing factor-binding protein; Binds CRF and inactivates it. May prevent inappropriate pituitary-adrenal stimulation in pregnancy. Belongs to the CRF-binding protein family.


ensembl_gene_id: ENSPPYP00000017424
symbol: BHMT
gene_biotype: protein_coding
description:
  Betaine--homocysteine S-methyltransferase 1; Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline (By similarity).


ensembl_gene_id: ENSPPYP00000017443
symbol: CKMT2
gene_biotype: protein_coding
description:
  Creatine kinase S-type, mitochondrial; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa (By similarity).


ensembl_gene_id: ENSPPYP00000017457
symbol: EDIL3
gene_biotype: protein_coding
description:
  EGF-like repeat and discoidin I-like domain-containing protein 3; Promotes adhesion of endothelial cells through interaction with the alpha-v/beta-3 integrin receptor. Inhibits formation of vascular-like structures. May be involved in regulation of vascular morphogenesis of remodeling in embryonic development (By similarity).


ensembl_gene_id: ENSPPYP00000017465
symbol: MEF2C
gene_biotype: protein_coding
description:
  Myocyte-specific enhancer factor 2C; Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex [...]


ensembl_gene_id: ENSPPYP00000017469
symbol: POLR3G
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase III subunit; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs.


ensembl_gene_id: ENSPPYP00000017472
symbol: ARRDC3
gene_biotype: protein_coding
description:
  Arrestin domain-containing protein 3; Adapter protein that plays a role in regulating cell-surface expression of adrenergic receptors and probably also other G protein- coupled receptors. Plays a role in NEDD4-mediated ubiquitination and endocytosis af activated ADRB2 and subsequent ADRB2 degradation. May recruit NEDD4 to ADRB2. Alternatively, may function as adapter protein that does not play a major role in recruiting NEDD4 to ADRB2, but rather plays a role in a targeting ADRB2 to endosomes.


ensembl_gene_id: ENSPPYP00000017500
symbol: ERAP2
gene_biotype: protein_coding
description:
  Endoplasmic reticulum aminopeptidase 2; Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Preferentially hydrolyzes the basic residues Arg and Lys (By similarity).


ensembl_gene_id: ENSPPYP00000017510
symbol: ST8SIA4
gene_biotype: protein_coding
description:
  ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSPPYP00000017512
symbol: SLCO4C1
gene_biotype: protein_coding
description:
  Solute carrier organic anion transporter family member 4C1; Organic anion transporter, capable of transporting pharmacological substances such as digoxin, ouabain, thyroxine, methotrexate and cAMP. May participate in the regulation of membrane transport of ouabain. Involved in the uptake of the dipeptidyl peptidase-4 inhibitor sitagliptin and hence may play a role in its transport into and out of renal proximal tubule cells. May be involved in the first step of the transport pathway of digoxin and various compounds into the urine in the kidney. May be involved in sperm maturation by en [...]


ensembl_gene_id: ENSPPYP00000017519
symbol: PPIP5K2
gene_biotype: protein_coding
description:
  Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2; 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: ENSPPYP00000017520
symbol: C5H5orf30
gene_biotype: protein_coding
description:
  Macrophage immunometabolism regulator; Regulates the macrophage function, by enhancing the resolution of inflammation and wound repair functions mediated by M2 macrophages. The regulation of macrophage function is, due at least in part, to its ability to inhibit glycolysis. May also play a role in trafficking of proteins via its interaction with UNC119 and UNC119B cargo adapters: may help the release of UNC119 and UNC119B cargo or the recycling of UNC119 and UNC119B. May play a role in ciliary membrane localization via its interaction with UNC119B and protein transport into photorecept [...]


ensembl_gene_id: ENSPPYP00000017521
symbol: NUDT12
gene_biotype: protein_coding
description:
  Peroxisomal NADH pyrophosphatase NUDT12; Hydrolyzes NAD(P)H to NMNH and AMP (2',5'-ADP), and diadenosine diphosphate to AMP. Has also activity towards NAD(P)(+), ADP-ribose and diadenosine triphosphate. May act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle.


ensembl_gene_id: ENSPPYP00000017525
symbol: PJA2
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase Praja-2; Has E2-dependent E3 ubiquitin-protein ligase activity. Responsible for ubiquitination of cAMP-dependent protein kinase type I and type II-alpha/beta regulatory subunits and for targeting them for proteasomal degradation. Essential for PKA-mediated long-term memory processes. Through the ubiquitination of MFHAS1, positively regulates the TLR2 signaling pathway that leads to the activation of the downstream p38 and JNK MAP kinases and promotes the polarization of macrophages toward the pro-inflammatory M1 phenotype.


ensembl_gene_id: ENSPPYP00000017541
symbol: REEP5
gene_biotype: protein_coding
description:
  Receptor expression-enhancing protein 5; May promote functional cell surface expression of olfactory receptors.


ensembl_gene_id: ENSPPYP00000017549
symbol: YTHDC2
gene_biotype: protein_coding
description:
  3'-5' RNA helicase YTHDC2; 3'-5' RNA helicase that plays a key role in the male and female germline by promoting transition from mitotic to meiotic divisions in stem cells. Specifically recognizes and binds N6- methyladenosine (m6A)-containing RNAs, a modification present at internal sites of mRNAs and some non-coding RNAs that plays a role in the efficiency of RNA processing and stability. Essential for ensuring a successful progression of the meiotic program in the germline by regulating the level of m6A-containing RNAs. Acts by binding and promoting degradation of m6A-containing mRN [...]


ensembl_gene_id: ENSPPYP00000017559
symbol: ATG12
gene_biotype: protein_coding
description:
  Ubiquitin-like protein ATG12; Ubiquitin-like protein involved in autophagy vesicles formation. Conjugation with ATG5 through a ubiquitin-like conjugating system involving also ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. The ATG12-ATG5 conjugate also regulates negatively the innate antiviral immune response by blocking the type I IFN production pathway through direct [...]


ensembl_gene_id: ENSPPYP00000017570
symbol: TNFAIP8
gene_biotype: protein_coding
description:
  Tumor necrosis factor alpha-induced protein 8; Acts as a negative mediator of apoptosis. Suppresses the TNF- mediated apoptosis by inhibiting caspase-8 activity but not the processing of procaspase-8, subsequently resulting in inhibition of BID cleavage and caspase-3 activation (By similarity); Belongs to the TNFAIP8 family.


ensembl_gene_id: ENSPPYP00000017574
symbol: FTMT
gene_biotype: protein_coding
description:
  Ferritin; Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation.


ensembl_gene_id: ENSPPYP00000017575
symbol: SRFBP1
gene_biotype: protein_coding
description:
  Serum response factor-binding protein 1; May be involved in regulating transcriptional activation of cardiac genes during the aging process. May play a role in biosynthesis and/or processing of SLC2A4 in adipose cells (By similarity).


ensembl_gene_id: ENSPPYP00000017584
symbol: CSNK1G3
gene_biotype: protein_coding
description:
  Casein kinase I isoform gamma-3; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity).


ensembl_gene_id: ENSPPYP00000017608
symbol: HINT1
gene_biotype: protein_coding
description:
  Histidine triad nucleotide-binding protein 1; Hydrolyzes purine nucleotide phosphoramidates with a single phosphate group, including adenosine 5'monophosphoramidate (AMP-NH2), adenosine 5'monophosphomorpholidate (AMP-morpholidate) and guanosine 5'monophosphomorpholidate (GMP-morpholidate). Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) generated by lysine tRNA ligase, as well as Met-AMP, His-AMP and Asp-AMP, lysyl-GMP (GMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) and AMP-N-alanine methyl ester. Can also convert adenosine 5'-O-phosphorothioate and guano [...]


ensembl_gene_id: ENSPPYP00000017610
symbol: LYRM7
gene_biotype: protein_coding
description:
  Complex III assembly factor LYRM7; Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane (By similarity).


ensembl_gene_id: ENSPPYP00000017611
symbol: CDC42SE2
gene_biotype: protein_coding
description:
  CDC42 small effector protein 2; 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: ENSPPYP00000017618
symbol: IL3
gene_biotype: protein_coding
description:
  Interleukin-3; Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages. Belongs to the IL-3 family.


ensembl_gene_id: ENSPPYP00000017629
symbol: IL5
gene_biotype: protein_coding
description:
  Interleukin-5; Factor that induces terminal differentiation of late- developing B-cells to immunoglobulin secreting cells.


ensembl_gene_id: ENSPPYP00000017632
symbol: IL4
gene_biotype: protein_coding
description:
  Interleukin-4; Participates in at least several B-cell activation processes as well as of other cell types. It is a costimulator of DNA-synthesis. It induces the expression of class II MHC molecules on resting B-cells. It enhances both secretion and cell surface expression of IgE and IgG1. It also regulates the expression of the low affinity Fc receptor for IgE (CD23) on both lymphocytes and monocytes. Belongs to the IL-4/IL-13 family.


ensembl_gene_id: ENSPPYP00000017633
symbol: KIF3A
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF3A; Microtubule-based anterograde translocator for membranous organelles. Plus end-directed microtubule sliding activity in vitro. Plays a role in primary cilia formation. Plays a role in centriole cohesion and subdistal appendage organization and function. Regulates the formation of the subdistal appendage via recruitment of DCTN1 to the centriole. Also required for ciliary basal feet formation and microtubule anchoring to mother centriole.


ensembl_gene_id: ENSPPYP00000017636
symbol: SEPTIN8
gene_biotype: protein_coding
description:
  SEPT8 isoform 13; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPPYP00000017639
symbol: UQCRQ
gene_biotype: protein_coding
description:
  Cytochrome b-c1 complex subunit 8; Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inn [...]


ensembl_gene_id: ENSPPYP00000017649
symbol: SKP1
gene_biotype: protein_coding
description:
  S-phase kinase-associated protein 1; Essential component of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, which mediates the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. In the SCF complex, serves as an adapter that links the F-box protein to CUL1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component. SCF(BTRC) and SCF(FBXW11) direct ubiquitination of CTNNB1 and participate in Wnt signaling. SCF(FBXW11) directs ubiquitination of phosphorylated NFKBIA. SCF(BTRC [...]


ensembl_gene_id: ENSPPYP00000017657
symbol: CAMLG
gene_biotype: protein_coding
description:
  Calcium signal-modulating cyclophilin ligand; Likely involved in the mobilization of calcium as a result of the TCR/CD3 complex interaction. Binds to cyclophilin B.


ensembl_gene_id: ENSPPYP00000017658
symbol: DDX46
gene_biotype: protein_coding
description:
  Probable ATP-dependent RNA helicase DDX46; Plays an essential role in splicing, either prior to, or during A complex formation.


ensembl_gene_id: ENSPPYP00000017661
symbol: PCBD2
gene_biotype: protein_coding
description:
  Pterin-4-alpha-carbinolamine dehydratase 2; Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity); Belongs to the pterin-4-alpha-carbinolamine dehydratase family.


ensembl_gene_id: ENSPPYP00000017676
symbol: SMAD5
gene_biotype: protein_coding
description:
  Mothers against decapentaplegic homolog 5; Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5 is a receptor- regulated SMAD (R-SMAD) (By similarity).


ensembl_gene_id: ENSPPYP00000017680
symbol: KLHL3
gene_biotype: protein_coding
description:
  Kelch-like protein 3; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron. The BCR(KLHL3) complex acts by mediating ubiquitination of WNK4, an inhibitor of potassium channel KCNJ1, leading to WNK4 degradation (By similarity). The BCR(KLHL3) complex also mediates ubiquitination and degradation of CLDN8, a tight-junction protein required for paracellular chloride transport in the kidney (By similarity).


ensembl_gene_id: ENSPPYP00000017698
symbol: ETF1
gene_biotype: protein_coding
description:
  Eukaryotic peptide chain release factor subunit 1; Directs the termination of nascent peptide synthesis (translation) in response to the termination codons UAA, UAG and UGA. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Required for SHFL-mediated translation termination which inhibits programmed ribosomal frameshifting (-1PRF) of mRNA from viruses and cellular genes.


ensembl_gene_id: ENSPPYP00000017699
symbol: HSPA9
gene_biotype: protein_coding
description:
  Stress-70 protein, mitochondrial; Chaperone protein which plays an important role in mitochondrial iron-sulfur cluster (ISC) biogenesis. Interacts with and stabilizes ISC cluster assembly proteins FXN, NFU1, NFS1 and ISCU. Regulates erythropoiesis via stabilization of ISC assembly. May play a role in the control of cell proliferation and cellular aging.


ensembl_gene_id: ENSPPYP00000017707
symbol: PAIP2
gene_biotype: protein_coding
description:
  Polyadenylate-binding protein-interacting protein 2; Acts as a repressor in the regulation of translation initiation of poly(A)-containing mRNAs. Its inhibitory activity on translation is mediated via its action on PABPC1. Displaces the interaction of PABPC1 with poly(A) RNA and competes with PAIP1 for binding to PABPC1. Its association with PABPC1 results in disruption of the cytoplasmic poly(A) RNP structure organization (By similarity).


ensembl_gene_id: ENSPPYP00000017717
symbol: CXXC5
gene_biotype: protein_coding
description:
  CXXC-type zinc finger protein 5; May indirectly participate in activation of the NF-kappa-B and MAPK pathways. Acts as a mediator of BMP4-mediated modulation of canonical Wnt signaling activity in neural stem cells. Required for DNA damage-induced ATM phosphorylation, p53 activation and cell cycle arrest. Involved in myelopoiesis (By similarity). Binds to the oxygen responsive element of COX4I2 and represses its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen). May repress COX4I2 transactivation induced by CHCHD2 and RBPJ (By similarity).  [...]


ensembl_gene_id: ENSPPYP00000017723
symbol: PFDN1
gene_biotype: protein_coding
description:
  Prefoldin subunit 1; 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 (By similarity); Belongs to the prefoldin subunit beta family.


ensembl_gene_id: ENSPPYP00000017732
symbol: CD14
gene_biotype: protein_coding
description:
  Monocyte differentiation antigen CD14; Coreceptor for bacterial lipopolysaccharide. In concert with LBP, binds to monomeric lipopolysaccharide and delivers it to the LY96/TLR4 complex, thereby mediating the innate immune response to bacterial lipopolysaccharide (LPS). Acts via MyD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Acts as a coreceptor for TLR2:TLR6 heterodimer in response to diacylated lipopeptides and for TLR2:TLR1 heterodimer in response to triacylated lipopeptides, these clusters trigger signaling from the cell su [...]


ensembl_gene_id: ENSPPYP00000017734
symbol: NDUFA2
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2; 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: ENSPPYP00000017737
symbol: IK
gene_biotype: protein_coding
description:
  Protein Red; Involved in pre-mRNA splicing as a component of the spliceosome. Auxiliary spliceosomal protein that regulates selection of alternative splice sites in a small set of target pre-mRNA species. Required for normal mitotic cell cycle progression. Recruits MAD1L1 and MAD2L1 to kinetochores, and is required to trigger the spindle assembly checkpoint. Required for normal accumulation of SMU1.


ensembl_gene_id: ENSPPYP00000017738
symbol: WDR55
gene_biotype: protein_coding
description:
  WD repeat-containing protein 55; Nucleolar protein that acts as a modulator of rRNA synthesis. Plays a central role during organogenesis (By similarity). Belongs to the WD repeat WDR55 family.


ensembl_gene_id: ENSPPYP00000017740
symbol: HARS1
gene_biotype: protein_coding
description:
  Histidine--tRNA ligase, cytoplasmic; Catalyzes the ATP-dependent ligation of histidine to the 3'- end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP). Plays a role in axon guidance. Belongs to the class-II aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSPPYP00000017743
symbol: HARS2
gene_biotype: protein_coding
description:
  Histidine--tRNA ligase, mitochondrial; Mitochondrial aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP).


ensembl_gene_id: ENSPPYP00000017766
symbol: TAF7
gene_biotype: protein_coding
description:
  Transcription initiation factor TFIID subunit 7; Functions as a component of the DNA-binding general transcription factor complex TFIID, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Present in both of the previously described TFIID species which either lack or contain TAFII30 (TFIID alpha and TFIID beta respectively); Belongs to the TAF7 family.


ensembl_gene_id: ENSPPYP00000017772
symbol: HDAC3
gene_biotype: protein_coding
description:
  Histone deacetylase 3; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4), and some other non-histone substrates. 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. Participates in the BCL6 transcriptional repressor activity by deacetylating the H3 'Lys-27' (H3K27) on enhancer elements, antagonizing EP300 acetyltransferase activi [...]


ensembl_gene_id: ENSPPYP00000017779
symbol: GNPDA1
gene_biotype: protein_coding
description:
  Glucosamine-6-phosphate isomerase 1; Seems to trigger calcium oscillations in mammalian eggs. These oscillations serve as the essential trigger for egg activation and early development of the embryo (By similarity); Belongs to the glucosamine/galactosamine-6-phosphate isomerase family.


ensembl_gene_id: ENSPPYP00000017784
symbol: NR3C1
gene_biotype: protein_coding
description:
  Glucocorticoid receptor; Receptor for glucocorticoids (GC). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mitochondrial DNA, and as a modulator of other transcription factors. Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Involved in chromatin remodeling. Plays a role in rapid mRNA degradation by binding to the 5' UTR of target mRNAs and interacting with PNRC2 in a ligand-dependent manner which recruits the RNA helicase UPF1 and the mRNA-decapping enzyme DCP [...]


ensembl_gene_id: ENSPPYP00000017795
symbol: LARS1
gene_biotype: protein_coding
description:
  Leucine--tRNA ligase, cytoplasmic; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a two step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Exhibits a post-transfer editing activity to hydrolyze mischarged tRNAs; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSPPYP00000017801
symbol: PPP2R2B
gene_biotype: protein_coding
description:
  Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform; 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: ENSPPYP00000017827
symbol: GRPEL2
gene_biotype: protein_coding
description:
  GrpE protein homolog 2, mitochondrial; Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Seems to control the nucleotide-dependent binding of mitochondrial HSP70 to substrate proteins. Stimulates ATPase activity of mt-HSP70. May also serve to modulate the interconversion of oligomeric (inactive) and monomeric (active) forms of mt-HSP70 (By similarity).


ensembl_gene_id: ENSPPYP00000017836
symbol: SLC26A2
gene_biotype: protein_coding
description:
  Sulfate transporter; Sulfate transporter. May play a role in endochondral bone formation; Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSPPYP00000017838
symbol: CSF1R
gene_biotype: protein_coding
description:
  CSF1R isoform 2; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSPPYP00000017839
symbol: PDGFRB
gene_biotype: protein_coding
description:
  Platelet-derived growth factor receptor beta; Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells.


ensembl_gene_id: ENSPPYP00000017843
symbol: CAMK2A
gene_biotype: protein_coding
description:
  Calcium/calmodulin-dependent protein kinase type II subunit alpha; Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in synaptic plasticity, neurotransmitter release and long-term potentiation. Member of the NMDAR signaling complex in excitatory synapses, it regulates NMDAR-dependent potentiation of the AMPAR and therefore excitatory synaptic transmission (By similarity). Regulates dendritic spine development. Also regulates the migration of developing neurons. Phosphorylates the transcriptio [...]


ensembl_gene_id: ENSPPYP00000017855
symbol: RBM22
gene_biotype: protein_coding
description:
  Pre-mRNA-splicing factor RBM22; Required for pre-mRNA splicing as component of the activated spliceosome. Involved in the first step of pre-mRNA splicing. Binds directly to the internal stem-loop (ISL) domain of the U6 snRNA and to the pre-mRNA intron near the 5' splice site during the activation and catalytic phases of the spliceosome cycle. Involved in both translocations of the nuclear SLU7 to the cytoplasm and the cytosolic calcium-binding protein PDCD6 to the nucleus upon cellular stress responses; Belongs to the SLT11 family.


ensembl_gene_id: ENSPPYP00000017856
symbol: DCTN4
gene_biotype: protein_coding
description:
  Dynactin subunit 4; Could have a dual role in dynein targeting and in ACTR1A/Arp1 subunit of dynactin pointed-end capping. Could be involved in ACTR1A pointed-end binding and in additional roles in linking dynein and dynactin to the cortical cytoskeleton (By similarity).


ensembl_gene_id: ENSPPYP00000017869
symbol: G3BP1
gene_biotype: protein_coding
description:
  Ras GTPase-activating protein-binding protein 1; ATP- and magnesium-dependent helicase that plays an essential role in innate immunity. Participates in the DNA-triggered cGAS/STING pathway by promoting the DNA binding and activation of CGAS. Enhances also DDX58-induced type I interferon production probably by helping DDX58 at sensing pathogenic RNA. In addition, plays an essential role in stress granule formation. Unwinds preferentially partial DNA and RNA duplexes having a 17 bp annealed portion and either a hanging 3' tail or hanging tails at both 5'- and 3'-ends. Unwinds DNA/DNA, RN [...]


ensembl_gene_id: ENSPPYP00000017891
symbol: CYFIP2
gene_biotype: protein_coding
description:
  Cytoplasmic FMR1-interacting protein 2; Involved in T-cell adhesion and p53-dependent induction of apoptosis. Does not bind RNA (By similarity). As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity).


ensembl_gene_id: ENSPPYP00000017898
symbol: THG1L
gene_biotype: protein_coding
description:
  tRNA(His) guanylyltransferase; Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage.


ensembl_gene_id: ENSPPYP00000017904
symbol: UBLCP1
gene_biotype: protein_coding
description:
  Ubiquitin-like domain-containing CTD phosphatase 1; Dephosphorylates 26S nuclear proteasomes, thereby decreasing their proteolytic activity. The dephosphorylation may prevent assembly of the core and regulatory particles (CP and RP) into mature 26S proteasome (By similarity).


ensembl_gene_id: ENSPPYP00000017906
symbol: IL12B
gene_biotype: protein_coding
description:
  Interleukin-12 subunit beta; Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC.


ensembl_gene_id: ENSPPYP00000017919
symbol: GABRB2
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor beta2 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPPYP00000017920
symbol: GABRA6
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor alpha6 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPPYP00000017922
symbol: GABRA1
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit alpha-1; Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (By similarity). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (By similarity). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present [...]


ensembl_gene_id: ENSPPYP00000017923
symbol: GABRG2
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit gamma-2; Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (By similarity). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (By similarity). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present [...]


ensembl_gene_id: ENSPPYP00000017925
symbol: CCNG1
gene_biotype: protein_coding
description:
  Cyclin-G1; May play a role in growth regulation. Is associated with G2/M phase arrest in response to DNA damage. May be an intermediate by which p53 mediates its role as an inhibitor of cellular proliferation (By similarity); Belongs to the cyclin family. Cyclin G subfamily.


ensembl_gene_id: ENSPPYP00000017930
symbol: MAT2B
gene_biotype: protein_coding
description:
  Methionine adenosyltransferase 2 subunit beta; Regulatory subunit of S-adenosylmethionine synthetase 2, an enzyme that catalyzes the formation of S-adenosylmethionine from methionine and ATP. Regulates MAT2A catalytic activity by changing its kinetic properties, increasing its affinity for L-methionine. Can bind NADP (in vitro); Belongs to the dTDP-4-dehydrorhamnose reductase family. MAT2B subfamily.


ensembl_gene_id: ENSPPYP00000017935
symbol: RARS1
gene_biotype: protein_coding
description:
  Arginine--tRNA ligase, cytoplasmic; Forms part of a macromolecular complex that catalyzes the attachment of specific amino acids to cognate tRNAs during protein synthesis. Modulates the secretion of AIMP1 and may be involved in generation of the inflammatory cytokine EMAP2 from AIMP1.


ensembl_gene_id: ENSPPYP00000017938
symbol: SPDL1
gene_biotype: protein_coding
description:
  Protein Spindly; Required for the localization of dynein and dynactin to the mitotic kintochore. Dynein is believed to control the initial lateral interaction between the kinetochore and spindle microtubules and to facilitate the subsequent formation of end-on kinetochore-microtubule attachments mediated by the NDC80 complex. Also required for correct spindle orientation. Does not appear to be required for the removal of spindle assembly checkpoint (SAC) proteins from the kinetochore upon bipolar spindle attachment.


ensembl_gene_id: ENSPPYP00000017987
symbol: CLTB
gene_biotype: protein_coding
description:
  Clathrin light chain; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles; Belongs to the clathrin light chain family.


ensembl_gene_id: ENSPPYP00000017998
symbol: ZNF346
gene_biotype: protein_coding
description:
  Zinc finger protein 346; Binds with low affinity to dsDNA and ssRNA, and with high affinity to dsRNA, with no detectable sequence specificity.


ensembl_gene_id: ENSPPYP00000018020
symbol: NHP2
gene_biotype: protein_coding
description:
  H/ACA ribonucleoprotein complex subunit 2; Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse tran [...]


ensembl_gene_id: ENSPPYP00000018041
symbol: CANX
gene_biotype: protein_coding
description:
  Calnexin; Calcium-binding protein that interacts with newly synthesized glycoproteins in the endoplasmic reticulum. It may act in assisting protein assembly and/or in the retention within the ER of unassembled protein subunits. It seems to play a major role in the quality control apparatus of the ER by the retention of incorrectly folded proteins. Associated with partial T-cell antigen receptor complexes that escape the ER of immature thymocytes, it may function as a signaling complex regulating thymocyte maturation. Additionally it may play a role in receptor-mediated endocytosis at t [...]


ensembl_gene_id: ENSPPYP00000018045
symbol: SQSTM1
gene_biotype: protein_coding
description:
  Sequestosome-1; Autophagy receptor required for selective macroautophagy (aggrephagy). Functions as a bridge between polyubiquitinated cargo and autophagosomes. Interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family. Required both for the formation and autophagic degradation of polyubiquitin- containing bodies, called ALIS (aggresome-like induced structures) and links ALIS to the autophagic machinery. Involved in midbody ring degradation (By similarity). May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and  [...]


ensembl_gene_id: ENSPPYP00000018054
symbol: FLT4
gene_biotype: protein_coding
description:
  FLT4 isoform 4; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSPPYP00000018067
symbol: DCP2
gene_biotype: protein_coding
description:
  m7GpppN-mRNA hydrolase; Decapping metalloenzyme that catalyzes the cleavage of the cap structure on mRNAs. Removes the 7-methyl guanine cap structure from mRNA molecules, yielding a 5'-phosphorylated mRNA fragment and 7m-GDP. Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. Plays a role in replication- dependent histone mRNA degradation. Has higher activity towards mRNAs that lack a poly(A) tail. Has no activity towards a cap structure lacking an RNA moiety. The presence of a N(6)-methyladenosine methylation at the second transcr [...]


ensembl_gene_id: ENSPPYP00000018076
symbol: DUSP22
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 22; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPPYP00000018079
symbol: EXOC2
gene_biotype: protein_coding
description:
  Exocyst complex component 2; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. Belongs to the SEC5 family.


ensembl_gene_id: ENSPPYP00000018091
symbol: SERPINB6
gene_biotype: protein_coding
description:
  Serpin B6; Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress. May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity).


ensembl_gene_id: ENSPPYP00000018106
symbol: PRPF4B
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase PRP4 homolog; Has a role in pre-mRNA splicing. Phosphorylates SF2/ASF (By similarity); Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family.


ensembl_gene_id: ENSPPYP00000018126
symbol: SSR1
gene_biotype: protein_coding
description:
  Translocon-associated protein subunit alpha; 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. May be involved in the recycling of the translocation apparatus after completion of the translocation process or may function as a membrane-bound chaperone facilitating folding of translocated proteins (By similarity); Belongs to the TRAP-alpha family.


ensembl_gene_id: ENSPPYP00000018128
symbol: RIOK1
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase RIO1; Belongs to the protein kinase superfamily. RIO-type Ser/Thr kinase family.


ensembl_gene_id: ENSPPYP00000018136
symbol: BLOC1S5
gene_biotype: protein_coding
description:
  Biogenesis of lysosome-related organelles complex 1 subunit 5; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO).


ensembl_gene_id: ENSPPYP00000018139
symbol: SLC35B3
gene_biotype: protein_coding
description:
  Adenosine 3'-phospho 5'-phosphosulfate transporter 2; Mediates the transport of adenosine 3'-phospho 5'- phosphosulfate (PAPS), from cytosol into Golgi. PAPS is a universal sulfuryl donor for sulfation events that take place in the Golgi. Compensates for the insufficient expression of SLC35B2/PAPST1 during the synthesis of sulfated glycoconjugates in the colon (By similarity). Belongs to the nucleotide-sugar transporter family. SLC35B subfamily.


ensembl_gene_id: ENSPPYP00000018152
symbol: ELOVL2
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 2; 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. Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). May participate to the production  [...]


ensembl_gene_id: ENSPPYP00000018164
symbol: SIRT5
gene_biotype: protein_coding
description:
  NAD-dependent protein deacylase sirtuin-5, mitochondrial; NAD-dependent lysine demalonylase, desuccinylase and deglutarylase that specifically removes malonyl, succinyl and glutaryl groups on target proteins. Activates CPS1 and contributes to the regulation of blood ammonia levels during prolonged fasting: acts by mediating desuccinylation and deglutarylation of CPS1, thereby increasing CPS1 activity in response to elevated NAD levels during fasting. Activates SOD1 by mediating its desuccinylation, leading to reduced reactive oxygen species. Activates SHMT2 by mediating its desuccinyla [...]


ensembl_gene_id: ENSPPYP00000018181
symbol: CAP2
gene_biotype: protein_coding
description:
  Adenylyl cyclase-associated protein 2; May have a regulatory bifunctional role; Belongs to the CAP family.


ensembl_gene_id: ENSPPYP00000018192
symbol: MBOAT1
gene_biotype: protein_coding
description:
  Membrane bound O-acyltransferase domain containing 1; Belongs to the membrane-bound acyltransferase family.


ensembl_gene_id: ENSPPYP00000018202
symbol: MRS2
gene_biotype: protein_coding
description:
  Magnesium transporter MRS2 homolog, mitochondrial; Magnesium transporter that mediates the influx of magnesium into the mitochondrial matrix. Required for normal expression of the mitochondrial respiratory complex I subunits. Belongs to the CorA metal ion transporter (MIT) (TC 1.A.35) family.


ensembl_gene_id: ENSPPYP00000018207
symbol: ACOT13
gene_biotype: protein_coding
description:
  Acyl-coenzyme A thioesterase 13, N-terminally processed; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Can also hydrolyze 3-hydroxyphenylacetyl-CoA (in vitro) (By similarity). May play a role in controlling adaptive thermogenesis (By similarity).


ensembl_gene_id: ENSPPYP00000018237
symbol: LOC100439336
gene_biotype: protein_coding
description:
  Histone H2B type 1; 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.


ensembl_gene_id: ENSPPYP00000018250
symbol: H4C7
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.


ensembl_gene_id: ENSPPYP00000018261
symbol: BTN2A1
gene_biotype: protein_coding
description:
  Butyrophilin subfamily 2 member A2; Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion.


ensembl_gene_id: ENSPPYP00000018265
symbol: ABT1
gene_biotype: protein_coding
description:
  Activator of basal transcription 1; Coud be a novel TATA-binding protein (TBP) which can function as a basal transcription activator. Can act as a regulator of basal transcription for class II genes (By similarity).


ensembl_gene_id: ENSPPYP00000018325
symbol: MOG
gene_biotype: protein_coding
description:
  Myelin-oligodendrocyte glycoprotein; Minor component of the myelin sheath. May be involved in completion and/or maintenance of the myelin sheath and in cell-cell communication. Mediates homophilic cell-cell adhesion (By similarity).


ensembl_gene_id: ENSPPYP00000018342
symbol: GNL1
gene_biotype: protein_coding
description:
  Guanine nucleotide-binding protein-like 1; Possible regulatory or functional link with the histocompatibility cluster; Belongs to the TRAFAC class YlqF/YawG GTPase family.


ensembl_gene_id: ENSPPYP00000018349
symbol: ATAT1
gene_biotype: protein_coding
description:
  Alpha-tubulin N-acetyltransferase 1; Specifically acetylates 'Lys-40' in alpha-tubulin on the lumenal side of microtubules. Promotes microtubule destabilization and accelerates microtubule dynamics; this activity may be independent of acetylation activity. Acetylates alpha-tubulin with a slow enzymatic rate, due to a catalytic site that is not optimized for acetyl transfer. Enters the microtubule through each end and diffuses quickly throughout the lumen of microtubules. Acetylates only long/old microtubules because of its slow acetylation rate since it does not have time to act on dyn [...]


ensembl_gene_id: ENSPPYP00000018357
symbol: TUBB
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 (By similarity). Belongs to the tubulin family.


ensembl_gene_id: ENSPPYP00000018363
symbol: GTF2H4
gene_biotype: protein_coding
description:
  General transcription factor IIH subunit 4; Component of the general transcription and DNA repair factor IIH (TFIIH) core complex which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA. Belongs to the TFB2 family.


ensembl_gene_id: ENSPPYP00000018375
symbol: DDX39B
gene_biotype: protein_coding
description:
  Spliceosome RNA helicase DDX39B; Involved in nuclear export of spliced and unspliced mRNA. Assembling 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 recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pat [...]


ensembl_gene_id: ENSPPYP00000018389
symbol: APOM
gene_biotype: protein_coding
description:
  Apolipoprotein M; Probably involved in lipid transport. Can bind sphingosine-1- phosphate, myristic acid, palmitic acid and stearic acid, retinol, all- trans-retinoic acid and 9-cis-retinoic acid (By similarity).


ensembl_gene_id: ENSPPYP00000018394
symbol: ABHD16A
gene_biotype: protein_coding
description:
  Phosphatidylserine lipase ABHD16A; Phosphatidylserine (PS) lipase that mediates the hydrolysis of phosphatidylserine to generate lysophosphatidylserine (LPS). LPS constitutes a class of signaling lipids that regulates immunological and neurological processes (By similarity). Has no activity towards diacylglycerol, triacylglycerol or lysophosphatidylserine lipase (By similarity). Also has monoacylglycerol lipase activity, with preference for 1-(9Z,12Z-octadecadienoyl)-glycerol (1-LG) and 2-glyceryl-15-deoxy- Delta(12,14)-prostaglandin J2 (15d-PGJ(2)-G) (By similarity).


ensembl_gene_id: ENSPPYP00000018405
symbol: LSM2
gene_biotype: protein_coding
description:
  U6 snRNA-associated Sm-like protein LSm2; Binds specifically to the 3'-terminal U-tract of U6 snRNA.


ensembl_gene_id: ENSPPYP00000018408
symbol: HSPA1A
gene_biotype: protein_coding
description:
  Heat shock 70 kDa protein 1; 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 and ADP [...]


ensembl_gene_id: ENSPPYP00000018432
symbol: AGPAT1
gene_biotype: protein_coding
description:
  1-acyl-sn-glycerol-3-phosphate acyltransferase; Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family.


ensembl_gene_id: ENSPPYP00000018470
symbol: PACSIN1
gene_biotype: protein_coding
description:
  Protein kinase C and casein kinase substrate in neurons protein 1; Binds to membranes via its F-BAR domain and mediates membrane tubulation. Plays a role in the reorganization of the microtubule cytoskeleton via its interaction with MAPT; this decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. Plays a role in cellular transport processes by recruiting DNM1, DNM2 and DNM3 to membranes. Plays a role in the reorganization of the actin cytoskeleton and in neuron morphogenesis via its interaction with COBL and WASL, and by recruiting COBL to the cell corte [...]


ensembl_gene_id: ENSPPYP00000018476
symbol: TAF11
gene_biotype: protein_coding
description:
  Transcription initiation factor TFIID subunit 11; Core TAFII present in both of the previously described TFIID species which either lack or contain TAFII30 (TFIID alpha and TFIID beta respectively); Belongs to the TAF11 family.


ensembl_gene_id: ENSPPYP00000018487
symbol: TEAD3
gene_biotype: protein_coding
description:
  Transcriptional enhancer factor TEF-5; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis.


ensembl_gene_id: ENSPPYP00000018489
symbol: FKBP5
gene_biotype: protein_coding
description:
  Peptidyl-prolyl cis-trans isomerase FKBP5; Immunophilin protein with PPIase and co-chaperone activities. Component of unligated steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). Plays a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors maintaining the complex into the cytoplasm when unliganded (By similarity).


ensembl_gene_id: ENSPPYP00000018496
symbol: SRPK1
gene_biotype: protein_coding
description:
  SRSF protein kinase 1; Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing. Plays a central role in the regulatory network for splicing, controlling the intranuclear distribution of splicing factors in interphase cells and the reorganization of nuclear speckles during mitosis. Can influence additional steps of mRNA maturation, as well as other cellular activiti [...]


ensembl_gene_id: ENSPPYP00000018509
symbol: STK38
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase 38; Negative regulator of MAP3K1/2 signaling. Converts MAP3K2 from its phosphorylated form to its non-phosphorylated form and inhibits autophosphorylation of MAP3K2 (By similarity).


ensembl_gene_id: ENSPPYP00000018517
symbol: C6orf89
gene_biotype: protein_coding
description:
  Bombesin receptor-activated protein C6orf89 homolog; Exhibits histone deacetylase (HDAC) enhancer properties. May play a role in cell cycle progression and wound repair of bronchial epithelial cells.


ensembl_gene_id: ENSPPYP00000018524
symbol: RNF8
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RNF8; E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by mediating the 'Lys-63'-linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair proteins at double-strand breaks (DSBs) sites, and by catalyzing 'Lys-48'-linked ubiquitination to remove target proteins from DNA damage sites. Following DNA DSBs, it is recruited to the sites of damage by ATM-phosphorylated MDC1 and catalyzes the 'Lys-63'-linked ubiquitination of histones H2A and H2AX, thereby promoting the formation of TP53 [...]


ensembl_gene_id: ENSPPYP00000018525
symbol: CMTR1
gene_biotype: protein_coding
description:
  Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1; S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap1 2'-O-ribose methylation to the 5'-cap structure of mRNAs. Methylates the ribose of the first nucleotide of a m(7)GpppG- capped mRNA and small nuclear RNA (snRNA) to produce m(7)GpppRm (cap1). Displays a preference for cap0 transcripts. Cap1 modification is linked to higher levels of translation. May be involved in the interferon response pathway.


ensembl_gene_id: ENSPPYP00000018532
symbol: GLO1
gene_biotype: protein_coding
description:
  Lactoylglutathione lyase; Catalyzes the conversion of hemimercaptal, formed from methylglyoxal and glutathione, to S-lactoylglutathione.


ensembl_gene_id: ENSPPYP00000018537
symbol: KCNK5
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 5; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSPPYP00000018559
symbol: TREM1
gene_biotype: protein_coding
description:
  Triggering receptor expressed on myeloid cells 1; Stimulates neutrophil and monocyte-mediated inflammatory responses. Triggers release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Amplifier of inflammatory responses that are triggered by bacterial and fungal infections and is a crucial mediator of septic shock (By similarity).


ensembl_gene_id: ENSPPYP00000018572
symbol: MED20
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 20; 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: ENSPPYP00000018598
symbol: CUL7
gene_biotype: protein_coding
description:
  Cullin-7; Core component of the 3M and Cul7-RING(FBXW8) complexes, which mediates the ubiquitination of target proteins. Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer. Interaction with CUL9 is required to inhibit CUL9 activity and ubiquitination of BIRC5. Core component of a Cul7-RING ubiquitin- protein ligase with FBXW8, which mediates ubiquitination and consequent degradation of target proteins such as [...]


ensembl_gene_id: ENSPPYP00000018604
symbol: PTK7
gene_biotype: protein_coding
description:
  Protein tyrosine kinase 7 (inactive); Belongs to the protein kinase superfamily. Tyr protein kinase family.


ensembl_gene_id: ENSPPYP00000018608
symbol: DNPH1
gene_biotype: protein_coding
description:
  2'-deoxynucleoside 5'-phosphate N-hydrolase 1; Catalyzes the cleavage of the N-glycosidic bond of deoxyribonucleoside 5'-monophosphates to yield deoxyribose 5-phosphate and a purine or pyrimidine base. Deoxyribonucleoside 5'-monophosphates containing purine bases are preferred to those containing pyrimidine bases.


ensembl_gene_id: ENSPPYP00000018610
symbol: SLC22A7
gene_biotype: protein_coding
description:
  Solute carrier family 22 member 7; Mediates sodium-independent multispecific organic anion transport; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.


ensembl_gene_id: ENSPPYP00000018631
symbol: HSP90AB1
gene_biotype: protein_coding
description:
  Heat shock protein HSP 90-beta; Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co- chaperones that modulate its substrate recognition, ATPase cycle and chaperone function. Engages with a range of client protein classes via its interact [...]


ensembl_gene_id: ENSPPYP00000018636
symbol: AARS2
gene_biotype: protein_coding
description:
  AARS2 isoform 1; Catalyzes the attachment of alanine to tRNA(Ala) in a two- step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain. Belongs to the class-II aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSPPYP00000018644
symbol: ENPP4
gene_biotype: protein_coding
description:
  Bis(5'-adenosyl)-triphosphatase ENPP4; Hydrolyzes extracellular Ap3A into AMP and ADP, and Ap4A into AMP and ATP. Ap3A and Ap4A are diadenosine polyphosphates thought to induce proliferation of vascular smooth muscle cells. Acts as a procoagulant, mediating platelet aggregation at the site of nascent thrombus via release of ADP from Ap3A and activation of ADP receptors (By similarity); Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.


ensembl_gene_id: ENSPPYP00000018648
symbol: RCAN2
gene_biotype: protein_coding
description:
  Calcipressin-2; Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development (By similarity).


ensembl_gene_id: ENSPPYP00000018666
symbol: MMUT
gene_biotype: protein_coding
description:
  Methylmalonyl-CoA mutase, mitochondrial; Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle; Belongs to the methylmalonyl-CoA mutase family.


ensembl_gene_id: ENSPPYP00000018688
symbol: MCM3
gene_biotype: protein_coding
description:
  DNA replication licensing factor MCM3; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...]


ensembl_gene_id: ENSPPYP00000018703
symbol: ELOVL5
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 5; 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 acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involv [...]


ensembl_gene_id: ENSPPYP00000018731
symbol: PRIM2
gene_biotype: protein_coding
description:
  DNA primase large subunit; Regulatory subunit of the DNA primase complex and component of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which play an essential role in the initiation of DNA synthesis. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands.


ensembl_gene_id: ENSPPYP00000018734
symbol: PTP4A1
gene_biotype: protein_coding
description:
  Protein tyrosine phosphatase type IVA 1; Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. May play a role in the development and maintenance of differentiating epithelial tissues (By similarity).


ensembl_gene_id: ENSPPYP00000018744
symbol: EYS-2
gene_biotype: protein_coding
description:
  Protein eyes shut homolog; Required to maintain the integrity of photoreceptor cells (By similarity). Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone (By similarity).


ensembl_gene_id: ENSPPYP00000018776
symbol: MTO1
gene_biotype: protein_coding
description:
  Protein MTO1 homolog, mitochondrial; Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.


ensembl_gene_id: ENSPPYP00000018784
symbol: TMEM30A
gene_biotype: protein_coding
description:
  Cell cycle control protein 50A; Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate. Required for the proper folding, assembly and ER to Golgi exit of the ATP8A2:TMEM30A flippase complex.  [...]


ensembl_gene_id: ENSPPYP00000018795
symbol: HMGN3
gene_biotype: protein_coding
description:
  High mobility group nucleosome-binding domain-containing protein 3; Binds to nucleosomes, regulating chromatin structure and consequently, chromatin-dependent processes such as transcription, DNA replication and DNA repair. Affects both insulin and glucagon levels and modulates the expression of pancreatic genes involved in insulin secretion. Regulates the expression of the glucose transporter SLC2A2 by binding specifically to its promoter region and recruiting PDX1 and additional transcription factors. Regulates the expression of SLC6A9, a glycine transporter which regulates the glyci [...]


ensembl_gene_id: ENSPPYP00000018800
symbol: ELOVL4
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 4; 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 specifically elongates C24:0 and C26:0 acyl-CoAs. May participate to the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane  [...]


ensembl_gene_id: ENSPPYP00000018809
symbol: UBE3D
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase E3D; E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome.


ensembl_gene_id: ENSPPYP00000018812
symbol: PGM3
gene_biotype: protein_coding
description:
  Phosphoacetylglucosamine mutase; Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O- glycosylation; Belongs to the phosphohexose mutase family.


ensembl_gene_id: ENSPPYP00000018828
symbol: SNX14
gene_biotype: protein_coding
description:
  Sorting nexin-14; Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking; Belongs to the sorting nexin family.


ensembl_gene_id: ENSPPYP00000018841
symbol: RARS2
gene_biotype: protein_coding
description:
  Probable arginine--tRNA ligase, mitochondrial; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSPPYP00000018846
symbol: CNR1
gene_biotype: protein_coding
description:
  Cannabinoid receptor 1; G-protein coupled receptor for cannabinoids (eCBs), including N-arachidonoylethanolamide (also called anandamide or AEA) and 2- arachidonoylglycerol (2-AG). Mediates many cannabinoid-induced effects, acting, among others, on food intake, memory loss, gastrointestinal motility, catalepsy, ambulatory activity, anxiety, chronic pain. Signaling typically involves reduction in cyclic AMP. In the hypothalamus, may have a dual effect on mitochondrial respiration depending upon the agonist dose and possibly upon the cell type. Increases respiration at low doses, while d [...]


ensembl_gene_id: ENSPPYP00000018847
symbol: RNGTT
gene_biotype: protein_coding
description:
  Polynucleotide 5'-triphosphatase; Bifunctional mRNA-capping enzyme exhibiting RNA 5'- triphosphatase activity in the N-terminal part and mRNA guanylyltransferase activity in the C-terminal part. Catalyzes the first two steps of cap formation: by removing the gamma-phosphate from the 5'-triphosphate end of nascent mRNA to yield a diphosphate end, and by transferring the gmp moiety of GTP to the 5'-diphosphate terminus.


ensembl_gene_id: ENSPPYP00000018856
symbol: MDN1
gene_biotype: protein_coding
description:
  Midasin; Nuclear chaperone required for maturation and nuclear export of pre-60S ribosome subunits; Belongs to the midasin family.


ensembl_gene_id: ENSPPYP00000018861
symbol: MAP3K7
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase 7; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Mediates signal transduction of TRAF6, various cytokines including interleukin-1 (IL-1), transforming growth factor-beta (TGFB), TGFB-related factors like BMP2 and BMP4, toll-like receptors (TLR), tumor necrosis factor receptor CD40 and B-cell receptor (BCR). Ceramides are also able to activate MAP3K7/TAK1. Once activated, acts as a [...]


ensembl_gene_id: ENSPPYP00000018869
symbol: NDUFAF4
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4; May be involved in cell proliferation and survival of hormone-dependent tumor cells. Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (By similarity); Belongs to the NDUFAF4 family.


ensembl_gene_id: ENSPPYP00000018875
symbol: COQ3
gene_biotype: protein_coding
description:
  Ubiquinone biosynthesis O-methyltransferase, mitochondrial; O-methyltransferase that catalyzes the 2 O-methylation steps in the ubiquinone biosynthetic pathway; Belongs to the class I-like SAM-binding methyltransferase superfamily. UbiG/COQ3 family.


ensembl_gene_id: ENSPPYP00000018899
symbol: ATG5
gene_biotype: protein_coding
description:
  Autophagy protein 5; Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3- like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is ess [...]


ensembl_gene_id: ENSPPYP00000018902
symbol: QRSL1
gene_biotype: protein_coding
description:
  Glutamyl-tRNA(Gln) amidotransferase subunit A, 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 amidase family. GatA subfamily.


ensembl_gene_id: ENSPPYP00000018910
symbol: SEC63
gene_biotype: protein_coding
description:
  Translocation protein SEC63 homolog; Mediates cotranslational and post-translational transport of certain precursor polypeptides across endoplasmic reticulum (ER). Proposed to play an auxiliary role in recognition of precursors with short and apolar signal peptides. May cooperate with SEC62 and HSPA5/BiP to facilitate targeting of small presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen (By similarity). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane [...]


ensembl_gene_id: ENSPPYP00000018915
symbol: SNX3
gene_biotype: protein_coding
description:
  Sorting nexin-3; Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Also can bind phosphatidylinositol 4-phosphate (PtdIns(P4)), phosphatidylinositol 5-phosphate (PtdIns(P5)) and phosphatidylinositol 3,5-biphosphate (PtdIns(3,5)P2). Plays a role in protein transport between cellular compartments. Together with RAB7A facilitates endosome membrane association of the retromer cargo- selective subcomplex (CSC). May act in part as component of the SNX3- retromer complex which mediates the retrograde  [...]


ensembl_gene_id: ENSPPYP00000018935
symbol: EEF1A1
gene_biotype: protein_coding
description:
  Elongation factor 1-alpha 1; This protein promotes the GTP-dependent binding of aminoacyl- tRNA to the A-site of ribosomes during protein biosynthesis. With PARP1 and TXK, forms a complex that acts as a T helper 1 (Th1) cell-specific transcription factor and binds the promoter of IFN-gamma to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily.


ensembl_gene_id: ENSPPYP00000018938
symbol: WASF1
gene_biotype: protein_coding
description:
  Wiskott-Aldrich syndrome protein family member 1; Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex (By similarity). As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity); Belongs to the SCAR/WAVE family.


ensembl_gene_id: ENSPPYP00000018990
symbol: GOPC
gene_biotype: protein_coding
description:
  Golgi-associated PDZ and coiled-coil motif-containing protein; Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes (By similarity).


ensembl_gene_id: ENSPPYP00000019007
symbol: SERINC1
gene_biotype: protein_coding
description:
  Serine incorporator 1; Enhances the incorporation of serine into phosphatidylserine and sphingolipids.


ensembl_gene_id: ENSPPYP00000019023
symbol: HINT3
gene_biotype: protein_coding
description:
  Histidine triad nucleotide-binding protein 3; Hydrolyzes phosphoramidate and acyl-adenylate substrates.


ensembl_gene_id: ENSPPYP00000019024
symbol: TRMT11
gene_biotype: protein_coding
description:
  tRNA (guanine(10)-N2)-methyltransferase homolog; Catalytic subunit of an S-adenosyl-L-methionine-dependent tRNA methyltransferase complex that mediates the methylation of the guanosine nucleotide at position 10 (m2G10) in tRNAs.


ensembl_gene_id: ENSPPYP00000019028
symbol: RNF146
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RNF146; E3 ubiquitin-protein ligase that specifically binds poly-ADP- ribosylated (PARsylated) proteins and mediates their ubiquitination and subsequent degradation. May regulate many important biological processes, such as cell survival and DNA damage response. Acts as an activator of the Wnt signaling pathway by mediating the ubiquitination of PARsylated AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex. Acts in cooperation with tankyrase proteins (TNKS and TNKS2), which mediate PARsylation of target proteins AXIN1, AXIN2, BLZF1, CA [...]


ensembl_gene_id: ENSPPYP00000019047
symbol: ENPP3
gene_biotype: protein_coding
description:
  Ectonucleotide pyrophosphatase/phosphodiesterase family member 3; Hydrolase that metabolizes extracellular nucleotides, including ATP, GTP, UTP and CTP (By similarity). Limits mast cell and basophil responses during inflammation and during the chronic phases of allergic responses by eliminating the extracellular ATP that functions as signaling molecule and activates basophils and mast cells and induces the release of inflammatory cytokines. Metabolizes extracellular ATP in the lumen of the small intestine, and thereby prevents ATP-induced apoptosis of intestinal plasmacytoid dendritic  [...]


ensembl_gene_id: ENSPPYP00000019051
symbol: STX7
gene_biotype: protein_coding
description:
  Syntaxin-7; May be involved in protein trafficking from the plasma membrane to the early endosome (EE) as well as in homotypic fusion of endocytic organelles. Mediates the endocytic trafficking from early endosomes to late endosomes and lysosomes (By similarity).


ensembl_gene_id: ENSPPYP00000019061
symbol: TBPL1
gene_biotype: protein_coding
description:
  TATA box-binding protein-like protein 1; Part of a specialized transcription system that mediates the transcription of most ribosomal proteins through the 5'-TCT-3' motif which is a core promoter element at these genes. Seems to also mediate the transcription of NF1. Does not bind the TATA box (By similarity).


ensembl_gene_id: ENSPPYP00000019063
symbol: SLC2A12
gene_biotype: protein_coding
description:
  SLC2A12 isoform 1; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPPYP00000019066
symbol: HBS1L
gene_biotype: protein_coding
description:
  HBS1-like protein; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family.


ensembl_gene_id: ENSPPYP00000019097
symbol: VTA1
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein VTA1 homolog; Involved in the endosomal multivesicular bodies (MVB) pathway. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. Thought to be a cofactor of VPS4A/B, which catalyzes disassembles membrane-associated ESCRT-III assemblies. Involved in the sorting and down-regulation of EGFR (By similarity).


ensembl_gene_id: ENSPPYP00000019105
symbol: FUCA2
gene_biotype: protein_coding
description:
  Plasma 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; Belongs to the glycosyl hydrolase 29 family.


ensembl_gene_id: ENSPPYP00000019135
symbol: KATNA1
gene_biotype: protein_coding
description:
  Katanin p60 ATPase-containing subunit A1; 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 neuronal p [...]


ensembl_gene_id: ENSPPYP00000019138
symbol: PCMT1
gene_biotype: protein_coding
description:
  Protein-L-isoaspartate(D-aspartate) O-methyltransferase; Catalyzes the methyl esterification of L-isoaspartyl and D- aspartyl residues in peptides and proteins that result from spontaneous decomposition of normal L-aspartyl and L-asparaginyl residues. It plays a role in the repair and/or degradation of damaged proteins. Acts on microtubule-associated protein 2, calreticulin, clathrin light chains a and b, Ubiquitin carboxyl-terminal hydrolase isozyme L1, phosphatidylethanolamine-binding protein 1, stathmin, beta-synuclein and alpha-synuclein (By similarity).


ensembl_gene_id: ENSPPYP00000019149
symbol: IYD
gene_biotype: protein_coding
description:
  Iodotyrosine deiodinase 1; Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways. Acts more efficiently on monoiodotyrosine than on diiodotyrosine.


ensembl_gene_id: ENSPPYP00000019155
symbol: RMND1
gene_biotype: protein_coding
description:
  Required for meiotic nuclear division protein 1 homolog; Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome.


ensembl_gene_id: ENSPPYP00000019159
symbol: ESR1
gene_biotype: protein_coding
description:
  Estrogen receptor; The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues.


ensembl_gene_id: ENSPPYP00000019173
symbol: TFB1M
gene_biotype: protein_coding
description:
  Dimethyladenosine transferase 1, mitochondrial; S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity (By similarity).


ensembl_gene_id: ENSPPYP00000019192
symbol: CR201_G0000558
gene_biotype: protein_coding
description:
  Oligosaccharyltransferase complex 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 the endoplasmic reticulum (ER). All s [...]


ensembl_gene_id: ENSPPYP00000019197
symbol: SOD2
gene_biotype: protein_coding
description:
  Superoxide dismutase; Destroys radicals which are normally produced within the cells and which are toxic to biological systems. Belongs to the iron/manganese superoxide dismutase family.


ensembl_gene_id: ENSPPYP00000019204
symbol: PNLDC1
gene_biotype: protein_coding
description:
  Poly(A)-specific ribonuclease PNLDC1; 3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence certain maternal mRNAs translationally during oocyte maturation and early embryonic development (By similarity). May act as a regulator of multipotency in embryonic stem cells (By similarity); Belongs to the CAF1 family.


ensembl_gene_id: ENSPPYP00000019208
symbol: SLC22A2
gene_biotype: protein_coding
description:
  Solute carrier family 22 member 2; Mediates tubular uptake of organic compounds from circulation. Mediates the influx of agmatine, dopamine, noradrenaline (norepinephrine), serotonin, choline, famotidine, ranitidine, histamine, creatinine, amantadine, memantine, acriflavine, 4-[4- (dimethylamino)-styryl]-N-methylpyridinium ASP, amiloride, metformin, N-1-methylnicotinamide (NMN), tetraethylammonium (TEA), 1-methyl-4- phenylpyridinium (MPP), cimetidine, cisplatin and oxaliplatin. Cisplatin may develop a nephrotoxic action. Transport of creatinine is inhibited by fluoroquinolones such as  [...]


ensembl_gene_id: ENSPPYP00000019214
symbol: AGPAT4
gene_biotype: protein_coding
description:
  1-acyl-sn-glycerol-3-phosphate acyltransferase delta; Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (By similarity). Exhibits high acyl-CoA specificity for polyunsaturated fatty acyl-CoA, especially docosahexaenoyl-CoA (22:6-CoA, DHA-CoA) (By similarity).


ensembl_gene_id: ENSPPYP00000019226
symbol: MPC1
gene_biotype: protein_coding
description:
  Mitochondrial pyruvate carrier; Mediates the uptake of pyruvate into mitochondria. Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family.


ensembl_gene_id: ENSPPYP00000019325
symbol: SLC39A7
gene_biotype: protein_coding
description:
  Zinc transporter SLC39A7; Zinc transporter, that transports Zn(2+) from the endoplasmic reticulum/Golgi apparatus to the cytosol; Belongs to the ZIP transporter (TC 2.A.5) family. KE4/Catsup subfamily.


ensembl_gene_id: ENSPPYP00000019357
symbol: TBCC
gene_biotype: protein_coding
description:
  Tubulin-specific chaperone C; Tubulin-folding protein; involved in the final step of the tubulin folding pathway.


ensembl_gene_id: ENSPPYP00000019401
symbol: EIF3B
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit B; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is involved in protein synthesis and, together with other initiation factors, stimulates binding of mRNA and methionyl-tRNAi to the 40S ribosome; Belongs to the eIF-3 subunit B family.


ensembl_gene_id: ENSPPYP00000019427
symbol: ACTB
gene_biotype: protein_coding
description:
  Actin, cytoplasmic 1, N-terminally processed; Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells. Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction. In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA.


ensembl_gene_id: ENSPPYP00000019454
symbol: TECPR1
gene_biotype: protein_coding
description:
  Tectonin beta-propeller repeat-containing protein 1; Tethering factor involved in autophagy. Involved in autophagosome maturation by promoting the autophagosome fusion with lysosomes: acts by associating with both the ATG5-ATG12 conjugate and phosphatidylinositol-3-phosphate (PtdIns(3)P) present at the surface of autophagosomes. Also involved in selective autophagy against bacterial pathogens, by being required for phagophore/preautophagosomal structure biogenesis and maturation (By similarity); Belongs to the TECPR1 family.


ensembl_gene_id: ENSPPYP00000019470
symbol: PTCD1
gene_biotype: protein_coding
description:
  Pentatricopeptide repeat-containing protein 1, mitochondrial; Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria- encoded proteins and COX activity. Affects also the 3'-processing of mitochondrial tRNAs.


ensembl_gene_id: ENSPPYP00000019473
symbol: ATP5MF
gene_biotype: protein_coding
description:
  ATP synthase subunit f, 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 centr [...]


ensembl_gene_id: ENSPPYP00000019477
symbol: ZNF394
gene_biotype: protein_coding
description:
  Zinc finger protein 394; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000019491
symbol: ZKSCAN1
gene_biotype: protein_coding
description:
  Zinc finger protein with KRAB and SCAN domains 1; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000019496
symbol: COPS6
gene_biotype: protein_coding
description:
  COP9 signalosome complex subunit 6; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes (By similarity). 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 (By similarity). The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with  [...]


ensembl_gene_id: ENSPPYP00000019497
symbol: MCM7
gene_biotype: protein_coding
description:
  DNA replication licensing factor MCM7; Acts as component of the mcm2-7 complex (mcm complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the mcm2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...]


ensembl_gene_id: ENSPPYP00000019498
symbol: AP4M1
gene_biotype: protein_coding
description:
  AP-4 complex subunit mu-1; 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. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asym [...]


ensembl_gene_id: ENSPPYP00000019501
symbol: LAMTOR4
gene_biotype: protein_coding
description:
  Ragulator complex protein LAMTOR4, N-terminally processed; 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 (By similarity).


ensembl_gene_id: ENSPPYP00000019506
symbol: GPC2
gene_biotype: protein_coding
description:
  GPC2 isoform 1; Cell surface proteoglycan that bears heparan sulfate. Belongs to the glypican family.


ensembl_gene_id: ENSPPYP00000019530
symbol: POP7
gene_biotype: protein_coding
description:
  Ribonuclease P protein subunit p20; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences; Belongs to the histone-like Alba family.


ensembl_gene_id: ENSPPYP00000019531
symbol: EPO
gene_biotype: protein_coding
description:
  Erythropoietin; Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass. Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3. Belongs to the EPO/TPO family.


ensembl_gene_id: ENSPPYP00000019542
symbol: SRRT
gene_biotype: protein_coding
description:
  Serrate RNA effector molecule homolog; Acts as a mediator between the cap-binding complex (CBC) and the primary microRNAs (miRNAs) processing machinery during cell proliferation. Contributes to the stability and delivery of capped primary miRNA transcripts to the primary miRNA processing complex containing DGCR8 and DROSHA, thereby playing a role in RNA-mediated gene silencing (RNAi) by miRNAs. Binds capped RNAs (m7GpppG-capped RNA); however interaction is probably mediated via its interaction with NCBP1/CBP80 component of the CBC complex. Involved in cell cycle progression at S phase. [...]


ensembl_gene_id: ENSPPYP00000019555
symbol: PLOD3
gene_biotype: protein_coding
description:
  Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3; Multifunctional enzyme that catalyzes a series of post- translational modifications on Lys residues in procollagen. Plays a redundant role in catalyzing the formation of hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens (By similarity). Plays a redundant role in catalyzing the transfer of galactose onto hydroxylysine groups, giving rise to galactosyl 5-hydroxylysine (By similarity). Has an essential role by catalyzing the subsequent transfer of glucose moieties, giving rise to 1,2-glucosylgalactosy [...]


ensembl_gene_id: ENSPPYP00000019557
symbol: FIS1
gene_biotype: protein_coding
description:
  Mitochondrial fission 1 protein; Involved in the fragmentation of the mitochondrial network and its perinuclear clustering.


ensembl_gene_id: ENSPPYP00000019568
symbol: PRKRIP1
gene_biotype: protein_coding
description:
  PRKR-interacting protein 1; Required for pre-mRNA splicing as component of the spliceosome (By similarity). Binds double-stranded RNA. Inhibits EIF2AK2 kinase activity (By similarity).


ensembl_gene_id: ENSPPYP00000019583
symbol: YWHAG
gene_biotype: protein_coding
description:
  14-3-3 protein gamma, N-terminally processed; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner; Belongs to the 14-3-3 family.


ensembl_gene_id: ENSPPYP00000019589
symbol: POR
gene_biotype: protein_coding
description:
  NADPH--cytochrome P450 reductase; This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5; In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.


ensembl_gene_id: ENSPPYP00000019605
symbol: EIF4H
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 4H; Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA (By similarity).


ensembl_gene_id: ENSPPYP00000019613
symbol: STX1A
gene_biotype: protein_coding
description:
  Syntaxin-1A; Plays an essential role in hormone and neurotransmitter calcium-dependent exocytosis and endocytosis. Part of the SNARE (Soluble NSF Attachment Receptor) complex composed of SNAP25, STX1A and VAMP2 which mediates the fusion of synaptic vesicles with the presynaptic plasma membrane. STX1A and SNAP25 are localized on the plasma membrane while VAMP2 resides in synaptic vesicles. The pairing of the three SNAREs from the N-terminal SNARE motifs to the C-terminal anchors leads to the formation of the SNARE complex, which brings membranes into close proximity and results in final [...]


ensembl_gene_id: ENSPPYP00000019625
symbol: NSUN5
gene_biotype: protein_coding
description:
  NSUN5 isoform 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPPYP00000019630
symbol: SBDS
gene_biotype: protein_coding
description:
  Ribosome maturation protein SBDS; Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell prolifer [...]


ensembl_gene_id: ENSPPYP00000019631
symbol: TYW1
gene_biotype: protein_coding
description:
  S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1; Probable 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. Catalyzes the condensation of N-methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity); Belongs to the TYW1 family.


ensembl_gene_id: ENSPPYP00000019664
symbol: SUMF2
gene_biotype: protein_coding
description:
  Inactive C-alpha-formylglycine-generating enzyme 2; Lacks formylglycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1. Belongs to the sulfatase-modifying factor family.


ensembl_gene_id: ENSPPYP00000019666
symbol: PSPH
gene_biotype: protein_coding
description:
  Phosphoserine phosphatase; Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates (By similarity); Belongs to the HAD-like hydrolase superfamily. SerB family.


ensembl_gene_id: ENSPPYP00000019670
symbol: SEPTIN14
gene_biotype: protein_coding
description:
  SEPT14 isoform 1; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPPYP00000019712
symbol: OGDH
gene_biotype: protein_coding
description:
  2-oxoglutarate dehydrogenase, mitochondrial; 2-oxoglutarate dehydrogenase (E1) component of the 2- oxoglutarate dehydrogenase complex, which mediates the decarboxylation of alpha-ketoglutarate. The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion. A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl- Co [...]


ensembl_gene_id: ENSPPYP00000019724
symbol: POLM
gene_biotype: protein_coding
description:
  DNA-directed DNA/RNA polymerase mu; Gap-filling polymerase involved in repair of DNA double- strand breaks by non-homologous end joining (NHEJ). Belongs to the DNA polymerase type-X family.


ensembl_gene_id: ENSPPYP00000019725
symbol: PGAM2
gene_biotype: protein_coding
description:
  Phosphoglycerate mutase; Belongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily.


ensembl_gene_id: ENSPPYP00000019730
symbol: URGCP
gene_biotype: protein_coding
description:
  Up-regulator of cell proliferation; May be involved in cell cycle progression through the regulation of cyclin D1 expression; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Very large inducible GTPase (VLIG) family.


ensembl_gene_id: ENSPPYP00000019733
symbol: BLVRA
gene_biotype: protein_coding
description:
  Biliverdin reductase A; Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor; Belongs to the Gfo/Idh/MocA family. Biliverdin reductase subfamily.


ensembl_gene_id: ENSPPYP00000019750
symbol: VPS41
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 41 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport pathways; Belongs to the VPS41 family.


ensembl_gene_id: ENSPPYP00000019772
symbol: SEPTIN7
gene_biotype: protein_coding
description:
  Septin-7; Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role in ciliogenesis and collective cell movements. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (By similarity).


ensembl_gene_id: ENSPPYP00000019795
symbol: AVL9
gene_biotype: protein_coding
description:
  Late secretory pathway protein AVL9 homolog; Functions in cell migration; Belongs to the AVL9 family.


ensembl_gene_id: ENSPPYP00000019797
symbol: LSM5
gene_biotype: protein_coding
description:
  U6 snRNA-associated Sm-like protein LSm5; 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). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA.


ensembl_gene_id: ENSPPYP00000019805
symbol: AQP1
gene_biotype: protein_coding
description:
  Aquaporin-1; Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient.


ensembl_gene_id: ENSPPYP00000019806
symbol: MINDY4
gene_biotype: protein_coding
description:
  Probable ubiquitin carboxyl-terminal hydrolase MINDY-4; Probable hydrolase that can remove 'Lys-48'-linked conjugated ubiquitin from proteins; Belongs to the MINDY deubiquitinase family. FAM188 subfamily.


ensembl_gene_id: ENSPPYP00000019808
symbol: INMT
gene_biotype: protein_coding
description:
  Indolethylamine N-methyltransferase; Catalyzes the N-methylation of tryptamine and structurally related compounds (By similarity). Functions as thioether S- methyltransferase and is active with a variety of thioethers and the corresponding selenium and tellurium compounds, including 3- methylthiopropionaldehyde, dimethyl selenide, dimethyl telluride, 2- methylthioethylamine, 2-methylthioethanol, methyl-n-propyl sulfide and diethyl sulfide. Plays an important role in the detoxification of selenium compounds (By similarity).


ensembl_gene_id: ENSPPYP00000019811
symbol: GARS1
gene_biotype: protein_coding
description:
  Glycine--tRNA ligase; Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP). Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. Thereby, may play a special role in Ap4A homeostasis.


ensembl_gene_id: ENSPPYP00000019820
symbol: FKBP14
gene_biotype: protein_coding
description:
  Peptidyl-prolyl cis-trans isomerase FKBP14; PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4- hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens.


ensembl_gene_id: ENSPPYP00000019824
symbol: CPVL
gene_biotype: protein_coding
description:
  Probable serine carboxypeptidase CPVL; May be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation.


ensembl_gene_id: ENSPPYP00000019826
symbol: CREB5
gene_biotype: protein_coding
description:
  Cyclic AMP-responsive element-binding protein 5; Binds to the cAMP response element and activates transcription.


ensembl_gene_id: ENSPPYP00000019829
symbol: JAZF1
gene_biotype: protein_coding
description:
  Juxtaposed with another zinc finger protein 1; Acts as a transcriptional corepressor of orphan nuclear receptor NR2C2. Inhibits expression of the gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity. Also involved in transcriptional activation of NAMPT by promoting expression of PPARA and PPARD. Plays a role in lipid metabolism by suppressing lipogenesis, increasing lipolysis and decreasing lipid accumulation in adipose tissue. Plays a role in glucose homeostasis by improving glucose metabolism and insulin sensitivity.


ensembl_gene_id: ENSPPYP00000019830
symbol: TAX1BP1
gene_biotype: protein_coding
description:
  Tax1-binding protein 1 homolog; Inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti- apoptotic activity. Degraded by caspase-3-like family proteins upon TNF-induced apoptosis. May also play a role in the pro-inflammatory cytokine IL-1 signaling cascade (By similarity).


ensembl_gene_id: ENSPPYP00000019832
symbol: HIBADH
gene_biotype: protein_coding
description:
  3-hydroxyisobutyrate dehydrogenase, mitochondrial; Belongs to the HIBADH-related family. 3-hydroxyisobutyrate dehydrogenase subfamily.


ensembl_gene_id: ENSPPYP00000019851
symbol: SKAP2
gene_biotype: protein_coding
description:
  Src kinase-associated phosphoprotein 2; May be involved in B-cell and macrophage adhesion processes. In B-cells, may act by coupling the B-cell receptor (BCR) to integrin activation. May play a role in src signaling pathway (By similarity). Belongs to the SKAP family.


ensembl_gene_id: ENSPPYP00000019856
symbol: CBX3
gene_biotype: protein_coding
description:
  Chromobox protein homolog 3; Seems to be involved in transcriptional silencing in heterochromatin-like complexes. Recognizes and binds histone H3 tails methylated at 'Lys-9', leading to epigenetic repression. May contribute to the association of the heterochromatin with the inner nuclear membrane through its interaction with lamin B receptor (LBR). Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins. Contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation, mediates the  [...]


ensembl_gene_id: ENSPPYP00000019858
symbol: HNRNPA2B1
gene_biotype: protein_coding
description:
  Heterogeneous nuclear ribonucleoproteins A2/B1; Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilize the transcripts and minimize tangling and knotting. Packaging plays a role in various processes such as transcription, pre-mRNA processing, RNA nuclear export, subcellular location, mRNA translation and stability of mature mRNAs. Forms hnRNP particles with at least 20 other different hnRNP and he [...]


ensembl_gene_id: ENSPPYP00000019862
symbol: CYCS
gene_biotype: protein_coding
description:
  Cytochrome c; Electron carrier protein. The oxidized form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Cytochrome c then transfers this electron to the cytochrome oxidase complex, the final protein carrier in the mitochondrial electron-transport chain (By similarity).


ensembl_gene_id: ENSPPYP00000019872
symbol: NREP
gene_biotype: protein_coding
description:
  Neuronal regeneration-related protein; May have roles in neural function and cellular differentiation. Ectopic expression promotes axonal regeneration, induces differentiation of fibroblast into myofibroblast, induces myofibroblast ameboid migration, augments motility of gliomas, and increases retinoic-acid regulation of lipid-droplet biogenesis. Down- regulates the expression of TGFB1 and TGFB2 but not of TGFB3. May play a role in the regulation of alveolar generation.


ensembl_gene_id: ENSPPYP00000019876
symbol: NUP42
gene_biotype: protein_coding
description:
  Nucleoporin NUP42; Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm.


ensembl_gene_id: ENSPPYP00000019895
symbol: MACC1
gene_biotype: protein_coding
description:
  Metastasis-associated in colon cancer protein 1; Acts as a transcription activator for MET and as a key regulator of HGF-MET signaling.


ensembl_gene_id: ENSPPYP00000019909
symbol: AGR2
gene_biotype: protein_coding
description:
  Anterior gradient protein 2 homolog; Required for MUC2 post-transcriptional synthesis and secretion. May play a role in the production of mucus by intestinal cells. Proto-oncogene that may play a role in cell migration, cell differentiation and cell growth (By similarity). Promotes cell adhesion (By similarity).


ensembl_gene_id: ENSPPYP00000019915
symbol: SOSTDC1
gene_biotype: protein_coding
description:
  Sclerostin domain-containing protein 1; Directly antagonizes activity of BMP2, BMP4, BMP6 and BMP7 in a dose-dependent manner. Enhances Wnt signaling and inhibits TGF-beta signaling. May be involved in the onset of endometrial receptivity for implantation/sensitization for the decidual cell reaction (By similarity).


ensembl_gene_id: ENSPPYP00000019932
symbol: NXPH1
gene_biotype: protein_coding
description:
  Neurexophilin-1; May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors. Belongs to the neurexophilin family.


ensembl_gene_id: ENSPPYP00000019940
symbol: MIOS
gene_biotype: protein_coding
description:
  GATOR complex protein MIOS; As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex. It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1.


ensembl_gene_id: ENSPPYP00000019976
symbol: CYP51A1
gene_biotype: protein_coding
description:
  Lanosterol 14-alpha demethylase; A cytochrome P450 monooxygenase involved in sterol biosynthesis. Catalyzes 14-alpha demethylation of lanosterol and 24,25- dihydrolanosterol likely through sequential oxidative conversion of 14- alpha methyl group to hydroxymethyl, then to carboxylaldehyde, followed by the formation of the delta 14,15 double bond in the sterol core and concomitant release of formic acid. 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 P45 [...]


ensembl_gene_id: ENSPPYP00000019979
symbol: MTERF1
gene_biotype: protein_coding
description:
  Transcription termination factor 1, mitochondrial; Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for directing accurate termination. Binds DNA along the major grove and promotes DNA bending and partial unwinding. Promotes base flipping. Transcription termination activity appears to be polarized with highest specificity for transcripts initiated on the light strand (By similarity).


ensembl_gene_id: ENSPPYP00000019983
symbol: CLDN12
gene_biotype: protein_coding
description:
  Claudin-12; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.


ensembl_gene_id: ENSPPYP00000019992
symbol: SRI
gene_biotype: protein_coding
description:
  Sorcin; Calcium-binding protein that modulates excitation-contraction coupling in the heart. Contributes to calcium homeostasis in the heart sarcoplasmic reticulum. Modulates the activity of RYR2 calcium channels (By similarity).


ensembl_gene_id: ENSPPYP00000020006
symbol: GRM3
gene_biotype: protein_coding
description:
  Metabotropic glutamate receptor 3; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling inhibits adenylate cyclase activity (By similarity).


ensembl_gene_id: ENSPPYP00000020015
symbol: HGF
gene_biotype: protein_coding
description:
  Hepatocyte growth factor; Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types. Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerization. Belongs to the peptidase S1 family. Plasminogen subfamily.


ensembl_gene_id: ENSPPYP00000020016
symbol: SEMA3C
gene_biotype: protein_coding
description:
  Semaphorin-3C; Binds to plexin family members and plays an important role in the regulation of developmental processes. Required for normal cardiovascular development during embryogenesis. Functions as attractant for growing axons, and thereby plays an important role in axon growth and axon guidance (By similarity).


ensembl_gene_id: ENSPPYP00000020025
symbol: CALU-2
gene_biotype: protein_coding
description:
  Calumenin; Involved in regulation of vitamin K-dependent carboxylation of multiple N-terminal glutamate residues. Seems to inhibit gamma- carboxylase GGCX. Binds 7 calcium ions with a low affinity (By similarity).


ensembl_gene_id: ENSPPYP00000020029
symbol: PTPN12
gene_biotype: protein_coding
description:
  Tyrosine-protein phosphatase non-receptor type 12; Dephosphorylates a range of proteins, and thereby regulates cellular signaling cascades.


ensembl_gene_id: ENSPPYP00000020040
symbol: NAPEPLD
gene_biotype: protein_coding
description:
  N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D; Hydrolyzes N-acyl-phosphatidylethanolamines (NAPEs) to produce N-acylethanolamines (NAEs) and phosphatidic acid. Responsible for the generation of these bioactive fatty acid ethanolamides (FAEs), including anandamide (N-arachidonoylethanolamine), the ligand of cannabinoid and vanilloid receptors (By similarity). As a regulator of lipid metabolism in the adipose tissue, mediates the crosstalk between adipocytes, gut microbiota and immune cells to control body temperature and weight. In particular, regulates energy homeostasis  [...]


ensembl_gene_id: ENSPPYP00000020042
symbol: PMPCB
gene_biotype: protein_coding
description:
  Mitochondrial-processing peptidase subunit beta; Catalytic subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins (By similarity). Preferentially, cleaves after an arginine at position P2 (By similarity). Required for PINK1 turnover by coupling PINK1 mitochondrial import and cleavage, which results in subsequent PINK1 proteolysis (By similarity). Belongs to the peptidase M16 family.


ensembl_gene_id: ENSPPYP00000020045
symbol: PSMC2
gene_biotype: protein_coding
description:
  26S proteasome regulatory subunit 7; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC2 belongs to the heterohexameric ring of AAA (ATPases associated with [...]


ensembl_gene_id: ENSPPYP00000020046
symbol: SLC26A5
gene_biotype: protein_coding
description:
  Prestin; Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound amplification in the mammalian hearing organ; Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSPPYP00000020062
symbol: HBP1
gene_biotype: protein_coding
description:
  HMG box-containing protein 1; Transcriptional repressor that binds to the promoter region of target genes. Plays a role in the regulation of the cell cycle and of the Wnt pathway. Binds preferentially to the sequence 5'- TTCATTCATTCA-3'. Binding to the histone H1.0 promoter is enhanced by interaction with RB1. Disrupts the interaction between DNA and TCF4 (By similarity).


ensembl_gene_id: ENSPPYP00000020065
symbol: DUS4L
gene_biotype: protein_coding
description:
  tRNA-dihydrouridine synthase; Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs; Belongs to the dus family.


ensembl_gene_id: ENSPPYP00000020066
symbol: BCAP29
gene_biotype: protein_coding
description:
  B-cell receptor-associated protein 29; May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi. May be involved in CASP8- mediated apoptosis (By similarity).


ensembl_gene_id: ENSPPYP00000020068
symbol: SLC26A4
gene_biotype: protein_coding
description:
  Pendrin; Sodium-independent transporter of chloride and iodide. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSPPYP00000020071
symbol: SLC26A3
gene_biotype: protein_coding
description:
  Chloride anion exchanger; Chloride/bicarbonate exchanger. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSPPYP00000020072
symbol: DLD
gene_biotype: protein_coding
description:
  Dihydrolipoyl dehydrogenase, mitochondrial; Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched- chain amino acid-dehydrogenase complex). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion. A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT [...]


ensembl_gene_id: ENSPPYP00000020080
symbol: DNAJB9
gene_biotype: protein_coding
description:
  DnaJ homolog subfamily B member 9; Co-chaperone for Hsp70 protein HSPA5/BiP that acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR) (By similarity). J domain-containing co-chaperones stimulate the ATPase activity of Hsp70 proteins and are required for efficient substrate recognition by Hsp70 proteins (By similarity). In the unstressed endoplasmic reticulum, interacts with the luminal region of ERN1/IRE1 and selectively recruits HSPA5/BiP: HSPA5/BiP disrupts the dimerization of the active ERN1/IRE1 luminal region, thereby inactivating ERN1/IRE1 (By similar [...]


ensembl_gene_id: ENSPPYP00000020090
symbol: BMT2
gene_biotype: protein_coding
description:
  S-adenosylmethionine sensor upstream of mTORC1; S-adenosyl-L-methionine-binding protein that acts as an inhibitor of mTORC1 signaling via interaction with the GATOR1 and KICSTOR complexes. Acts as a sensor of S-adenosyl-L-methionine to signal methionine sufficiency to mTORC1: in presence of methionine, binds S-adenosyl-L-methionine, leading to disrupt interaction with the GATOR1 and KICSTOR complexes and promote mTORC1 signaling. Upon methionine starvation, S-adenosyl-L-methionine levels are reduced, thereby promoting the association with GATOR1 and KICSTOR, leading to inhibit mTORC1 s [...]


ensembl_gene_id: ENSPPYP00000020102
symbol: TES
gene_biotype: protein_coding
description:
  Testin; Scaffold protein that may play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Plays a role in the regulation of cell proliferation. May act as a tumor suppressor (By similarity); Belongs to the prickle / espinas / testin family.


ensembl_gene_id: ENSPPYP00000020104
symbol: CAV2
gene_biotype: protein_coding
description:
  Caveolin-2; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Acts as an accessory protein in conjunction with CAV1 in targeting to lipid rafts and driving caveolae formation. The Ser-36 phosphorylated form has a role in modulating mitosis in endothelial cells. Positive regulator of cellular mitogenesis of the MAPK signaling pathway. Required for the insulin-stimulated nuclear translocation and activation of MAPK1 and STAT3, and the subsequent regulation of cell cycle progression (B [...]


ensembl_gene_id: ENSPPYP00000020105
symbol: CAV1
gene_biotype: protein_coding
description:
  Caveolin-1; Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt  [...]


ensembl_gene_id: ENSPPYP00000020106
symbol: MET
gene_biotype: protein_coding
description:
  Hepatocyte growth factor receptor; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including proliferation, scattering, morphogenesis and survival. Ligand binding at the cell surface induces autophosphorylation of MET on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1, SRC, GRB2, STAT3 or the adapter GAB1. Recruitment of thes [...]


ensembl_gene_id: ENSPPYP00000020107
symbol: CAPZA2
gene_biotype: protein_coding
description:
  F-actin-capping protein subunit alpha-2; 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 (By similarity).


ensembl_gene_id: ENSPPYP00000020115
symbol: WNT2
gene_biotype: protein_coding
description:
  Protein Wnt-2; Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (By similarity). Functions as upstream regulator of FGF10 expression. Plays an important role in embryonic lung development. May contribute to embryonic brain development by regulating the proliferation of dopaminergic precursors and neurons (By similarity).


ensembl_gene_id: ENSPPYP00000020116
symbol: ASZ1
gene_biotype: protein_coding
description:
  Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1; Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with pi-bodies suggests a participation in the primary piRNAs metabolic process. Required prior to the p [...]


ensembl_gene_id: ENSPPYP00000020117
symbol: CFTR
gene_biotype: protein_coding
description:
  Cystic fibrosis transmembrane conductance regulator; Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane (By similarity). Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelia [...]


ensembl_gene_id: ENSPPYP00000020119
symbol: CTTNBP2
gene_biotype: protein_coding
description:
  Cortactin-binding protein 2; Regulates the dendritic spine distribution of CTTN/cortactin in hippocampal neurons, thus controls dendritic spinogenesis and dendritic spine maintenance.


ensembl_gene_id: ENSPPYP00000020123
symbol: TSPAN12
gene_biotype: protein_coding
description:
  Tetraspanin-12; Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt- dependent activation of FZD4, suggesting the existence of a Wnt- independent signaling that also [...]


ensembl_gene_id: ENSPPYP00000020124
symbol: ING3
gene_biotype: protein_coding
description:
  Inhibitor of growth protein 3; Component of the NuA4 histone acetyltransferase (HAT) 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 replicat [...]


ensembl_gene_id: ENSPPYP00000020141
symbol: NDUFA5
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 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: ENSPPYP00000020159
symbol: SND1
gene_biotype: protein_coding
description:
  Staphylococcal nuclease domain-containing protein 1; Endonuclease that mediates miRNA decay of both protein-free and AGO2-loaded miRNAs (By similarity). As part of its function in miRNA decay, regulates mRNAs involved in G1-to-S phase transition (By similarity). Functions as a bridging factor between STAT6 and the basal transcription factor (By similarity). Plays a role in PIM1 regulation of MYB activity (By similarity). Functions as a transcriptional coactivator for STAT5 (By similarity).


ensembl_gene_id: ENSPPYP00000020162
symbol: LEP
gene_biotype: protein_coding
description:
  Leptin; Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways. In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo- pituitary-adrenal hormones. In the periphery, increases basal me [...]


ensembl_gene_id: ENSPPYP00000020179
symbol: ATP6V1F
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit F; Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.


ensembl_gene_id: ENSPPYP00000020187
symbol: AHCYL2
gene_biotype: protein_coding
description:
  Putative adenosylhomocysteinase 3; May regulate the electrogenic sodium/bicarbonate cotransporter SLC4A4 activity and Mg(2+)-sensitivity. On the contrary of its homolog AHCYL1, does not regulate ITPR1 sensitivity to inositol 1,4,5-trisphosphate; Belongs to the adenosylhomocysteinase family.


ensembl_gene_id: ENSPPYP00000020193
symbol: ZC3HC1
gene_biotype: protein_coding
description:
  Nuclear-interacting partner of ALK; Essential component of a SCF-type E3 ligase complex, SCF(NIPA), a complex that controls mitotic entry by mediating ubiquitination and subsequent degradation of cyclin B1 (CCNB1). Its cell-cycle-dependent phosphorylation regulates the assembly of the SCF(NIPA) complex, restricting CCNB1 ubiquitination activity to interphase. Its inactivation results in nuclear accumulation of CCNB1 in interphase and premature mitotic entry (By similarity).


ensembl_gene_id: ENSPPYP00000020207
symbol: MKLN1
gene_biotype: protein_coding
description:
  Muskelin; Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (By similarity). Required for internalization of the GABA receptor GABRA1 from the cell membrane via endosomes and subsequent GABRA1 degradation. Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1 (By similarity).


ensembl_gene_id: ENSPPYP00000020208
symbol: PODXL
gene_biotype: protein_coding
description:
  Podocalyxin; Involved in the regulation of both adhesion and cell morphology and cancer progression. Function as an anti-adhesive molecule that maintains an open filtration pathway between neighboring foot processes in the podocyte by charge repulsion. Belongs to the podocalyxin family.


ensembl_gene_id: ENSPPYP00000020214
symbol: SLC35B4
gene_biotype: protein_coding
description:
  UDP-xylose and UDP-N-acetylglucosamine transporter; Sugar transporter that specifically mediates the transport of UDP-xylose (UDP-Xyl) and UDP-N-acetylglucosamine (UDP-GlcNAc) from cytosol into Golgi; Belongs to the nucleotide-sugar transporter family. SLC35B subfamily.


ensembl_gene_id: ENSPPYP00000020226
symbol: WDR91
gene_biotype: protein_coding
description:
  WD repeat-containing protein 91; Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3- phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport. It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome. May play a role in meiosis.


ensembl_gene_id: ENSPPYP00000020238
symbol: CREB3L2
gene_biotype: protein_coding
description:
  Processed cyclic AMP-responsive element-binding protein 3-like protein 2; Transcription factor involved in unfolded protein response (UPR). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific [...]


ensembl_gene_id: ENSPPYP00000020268
symbol: AGK
gene_biotype: protein_coding
description:
  Acylglycerol kinase, mitochondrial; Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively (By similarity). Phosphorylates ceramide but not sphingosine (By similarity). Phosphorylates 1,2-dioleoylglycerol more rapidly than 2,3-dioleoylglycerol (By similarity). Independently of its lipid kinase activity, acts as a component of the TIM22 complex (By similarity). The TIM22 complex mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane by  [...]


ensembl_gene_id: ENSPPYP00000020272
symbol: SSBP1
gene_biotype: protein_coding
description:
  Single-stranded DNA-binding protein, mitochondrial; Binds preferentially and cooperatively to pyrimidine rich single-stranded DNA (ss-DNA). In vitro, required to maintain the copy number of mitochondrial DNA (mtDNA) and plays crucial roles during mtDNA replication that stimulate activity of the replisome components POLG and TWNK at the replication fork. Promotes the activity of the gamma complex polymerase POLG, largely by organizing the template DNA and eliminating secondary structures to favor ss-DNA conformations that facilitate POLG activity. In addition it is able to promote the 5 [...]


ensembl_gene_id: ENSPPYP00000020335
symbol: TCAF1
gene_biotype: protein_coding
description:
  TRPM8 channel-associated factor 1; Positively regulates the plasma membrane cation channel TRPM8 activity. Involved in the recruitment of TRPM8 to the cell surface. Promotes prostate cancer cell migration inhibition in a TRPM8-dependent manner; Belongs to the TCAF family.


ensembl_gene_id: ENSPPYP00000020350
symbol: CNTNAP2
gene_biotype: protein_coding
description:
  Contactin-associated protein-like 2; Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction.


ensembl_gene_id: ENSPPYP00000020352
symbol: CUL1
gene_biotype: protein_coding
description:
  Cullin-1; Core component of multiple cullin-RING-based SCF (SKP1-CUL1- F-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. SCF complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins. In the SCF complex, serves as a rigid scaffold that organizes the SKP1-F-box protein and RBX1 subunits. May contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the  [...]


ensembl_gene_id: ENSPPYP00000020385
symbol: ATG9B
gene_biotype: protein_coding
description:
  Autophagy-related protein 9; Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle. Belongs to the ATG9 family.


ensembl_gene_id: ENSPPYP00000020386
symbol: ABCB8
gene_biotype: protein_coding
description:
  Mitochondrial potassium channel ATP-binding subunit; ATP-binding subunit of the mitochondrial potassium channel located in the mitochondrial inner membrane. Together with CCDC51/MITOK, forms a protein complex localized in the mitochondria that mediates ATP-dependent potassium currents across the inner membrane (that is, mitoK(ATP) channel) (By similarity). Plays a role in mitochondrial iron transport. Required for maintenance of normal cardiac function, possibly by influencing mitochondrial iron export and regulating the maturation of cytosolic iron sulfur cluster-containing enzymes (B [...]


ensembl_gene_id: ENSPPYP00000020405
symbol: PRKAG2
gene_biotype: protein_coding
description:
  5'-AMP-activated protein kinase subunit gamma-2; AMP/ATP-binding 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  [...]


ensembl_gene_id: ENSPPYP00000020419
symbol: INSIG1
gene_biotype: protein_coding
description:
  Insulin-induced gene protein; Mediates feedback control of cholesterol synthesis. Belongs to the INSIG family.


ensembl_gene_id: ENSPPYP00000020432
symbol: DNAJB6
gene_biotype: protein_coding
description:
  DnaJ homolog subfamily B member 6; Plays an indispensable role in the organization of KRT8/KRT18 filaments. Acts as an endogenous molecular chaperone for neuronal proteins including huntingtin. Suppresses aggregation and toxicity of polyglutamine-containing, aggregation-prone proteins (By similarity). Has a stimulatory effect on the ATPase activity of HSP70 in a dose- dependent and time-dependent manner and hence acts as a co-chaperone of HSP70. Also reduces cellular toxicity and caspase-3 activity (By similarity).


ensembl_gene_id: ENSPPYP00000020477
symbol: VOPP1
gene_biotype: protein_coding
description:
  Vesicular, overexpressed in cancer, prosurvival protein 1; Increases the transcriptional activity of NFKB1 by facilitating its nuclear translocation, DNA-binding and associated apoptotic response, when overexpressed; Belongs to the VOPP1/ECOP family.


ensembl_gene_id: ENSPPYP00000020558
symbol: CTSB
gene_biotype: protein_coding
description:
  Cathepsin B heavy chain; Thiol protease which is believed to participate in intracellular degradation and turnover of proteins (By similarity). Cleaves matrix extracellular phosphoglycoprotein MEPE (By similarity). Involved in the solubilization of cross-linked TG/thyroglobulin in the thyroid follicle lumen (By similarity). Has also been implicated in tumor invasion and metastasis (By similarity). Belongs to the peptidase C1 family.


ensembl_gene_id: ENSPPYP00000020559
symbol: FDFT1
gene_biotype: protein_coding
description:
  Squalene synthase; Critical branch point enzyme of isoprenoid biosynthesis that is thought to regulate the flux of isoprene intermediates through the sterol pathway; Belongs to the phytoene/squalene synthase family.


ensembl_gene_id: ENSPPYP00000020561
symbol: NEIL2
gene_biotype: protein_coding
description:
  Endonuclease 8-like 2; Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Has DNA glycosylase activity towards 5- hydroxyuracil and other oxidized derivatives of cytosine with a preference for mismatched double-stranded DNA (DNA bubbles). Has low or no DNA glycosylase activity towards thymine glycol, 2-hydroxyadenine, hypoxanthine and 8-oxoguanine. Has AP (apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by beta-delta elimination to generate a single-strand break at the site of the removed base with [...]


ensembl_gene_id: ENSPPYP00000020599
symbol: MTMR7
gene_biotype: protein_coding
description:
  Myotubularin-related protein 7; Phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and inositol 1,3- bisphosphate (Ins(1,3)P2); Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily.


ensembl_gene_id: ENSPPYP00000020603
symbol: MTUS1
gene_biotype: protein_coding
description:
  Microtubule-associated tumor suppressor 1 homolog; Cooperates with AGTR2 to inhibit ERK2 activation and cell proliferation. May be required for AGTR2 cell surface expression. Together with PTPN6, induces UBE2V2 expression upon angiotensin-II stimulation (By similarity).


ensembl_gene_id: ENSPPYP00000020617
symbol: LPL
gene_biotype: protein_coding
description:
  Lipoprotein lipase; Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilization and storage. Mediates margination of triglyceride-rich lipoprotein particles in capillaries. Recruited to its site of action on the luminal surface of vascular endothelium by binding to GPIHBP1 and cell surface heparan sulfate proteoglycans.


ensembl_gene_id: ENSPPYP00000020622
symbol: GFRA2
gene_biotype: protein_coding
description:
  GDNF family receptor alpha-2; Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor (By similarity).


ensembl_gene_id: ENSPPYP00000020626
symbol: XPO7
gene_biotype: protein_coding
description:
  Exportin-7; Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo 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 cargo from the export receptor. XPO7 then return to the nuclear compartment and mediate ano [...]


ensembl_gene_id: ENSPPYP00000020629
symbol: DMTN
gene_biotype: protein_coding
description:
  Dematin; Membrane-cytoskeleton-associated protein with F-actin-binding activity that induces F-actin bundles formation and stabilization. Its F-actin-bundling activity is reversibly regulated upon its phosphorylation by the cAMP-dependent protein kinase A (PKA). Binds to the erythrocyte membrane glucose transporter-1 SLC2A1/GLUT1, and hence stabilizes and attaches the spectrin-actin network to the erythrocytic plasma membrane. Plays a role in maintaining the functional integrity of PKA-activated erythrocyte shape and the membrane mechanical properties. Plays also a role as a modulator  [...]


ensembl_gene_id: ENSPPYP00000020635
symbol: REEP4
gene_biotype: protein_coding
description:
  Receptor expression-enhancing protein 4; Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes (By similarity); Belongs to the DP1 family.


ensembl_gene_id: ENSPPYP00000020639
symbol: PHYHIP
gene_biotype: protein_coding
description:
  Phytanoyl-CoA hydroxylase-interacting protein; Its interaction with PHYH suggests a role in the development of the central system; Belongs to the PHYHIP family.


ensembl_gene_id: ENSPPYP00000020643
symbol: SLC39A14
gene_biotype: protein_coding
description:
  Zinc transporter ZIP14; Broad-scope metal ion transporter with a preference for zinc uptake. Also mediates cellular uptake of nontransferrin-bound iron.


ensembl_gene_id: ENSPPYP00000020648
symbol: CCAR2
gene_biotype: protein_coding
description:
  Cell cycle and apoptosis regulator protein 2; 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. Inhibits SIRT1 deacetylase activity leading to increasing levels of p53/TP53 acetylation and p53- mediated apoptosis. Inhibits SUV39H1 methyltransferase activity. As part  [...]


ensembl_gene_id: ENSPPYP00000020659
symbol: CHMP7
gene_biotype: protein_coding
description:
  Charged multivesicular body protein 7; ESCRT-III-like protein required to recruit the ESCRT-III complex to the nuclear envelope during late anaphase. Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase. Plays a role in the endosomal sorting pathway.


ensembl_gene_id: ENSPPYP00000020675
symbol: NEFL
gene_biotype: protein_coding
description:
  Neurofilament light polypeptide; Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.


ensembl_gene_id: ENSPPYP00000020686
symbol: DPYSL2
gene_biotype: protein_coding
description:
  Dihydropyrimidinase-related protein 2; Plays a role in neuronal development and polarity, as well as in axon growth and guidance, neuronal growth cone collapse and cell migration. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. May play a role in endocytosis (By similarity); Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family.


ensembl_gene_id: ENSPPYP00000020690
symbol: TRIM35
gene_biotype: protein_coding
description:
  Tripartite motif-containing protein 35; Reduces FGFR1-dependent tyrosine phosphorylation of PKM, inhibiting PKM-dependent lactate production, glucose metabolism, and cell growth (By similarity). Implicated in the cell death mechanism (By similarity).


ensembl_gene_id: ENSPPYP00000020696
symbol: CLU
gene_biotype: protein_coding
description:
  Clusterin; Functions as extracellular chaperone that prevents aggregation of non native proteins. Prevents stress-induced aggregation of blood plasma proteins.


ensembl_gene_id: ENSPPYP00000020702
symbol: SCARA5
gene_biotype: protein_coding
description:
  Scavenger receptor class A member 5; Ferritin receptor that mediates non-transferrin-dependent delivery of iron. Mediates cellular uptake of ferritin-bound iron by stimulating ferritin endocytosis from the cell surface with consequent iron delivery within the cell. Delivery of iron to cells by ferritin is required for the development of specific cell types, suggesting the existence of cell type-specific mechanisms of iron traffic in organogenesis, which alternatively utilize transferrin or non- transferrin iron delivery pathways. Ferritin mediates iron uptake in capsule cells of the de [...]


ensembl_gene_id: ENSPPYP00000020718
symbol: SARAF
gene_biotype: protein_coding
description:
  Store-operated calcium entry-associated regulatory factor; Negative regulator of store-operated Ca(2+) entry (SOCE) involved in protecting cells from Ca(2+) overfilling. In response to cytosolic Ca(2+) elevation after endoplasmic reticulum Ca(2+) refilling, promotes a slow inactivation of STIM (STIM1 or STIM2)- dependent SOCE activity: possibly act by facilitating the deoligomerization of STIM to efficiently turn off ORAI when the endoplasmic reticulum lumen is filled with the appropriate Ca(2+) levels, and thus preventing the overload of the cell with excessive Ca(2+) ions (By similar [...]


ensembl_gene_id: ENSPPYP00000020720
symbol: LEPROTL1
gene_biotype: protein_coding
description:
  Leptin receptor overlapping transcript-like 1; Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during periods of reduced nutrient availability (By similarity). Belongs to the OB-RGRP/VPS55 family.


ensembl_gene_id: ENSPPYP00000020724
symbol: GTF2E2
gene_biotype: protein_coding
description:
  Transcription initiation factor IIE subunit beta; Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase.


ensembl_gene_id: ENSPPYP00000020725
symbol: GSR
gene_biotype: protein_coding
description:
  Glutathione reductase; Maintains high levels of reduced glutathione in the cytosol. Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family.


ensembl_gene_id: ENSPPYP00000020739
symbol: DUSP26
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase 26; Inactivates MAPK1 and MAPK3 which leads to dephosphorylation of heat shock factor protein 4 and a reduction in its DNA-binding activity; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPPYP00000020748
symbol: ERLIN2
gene_biotype: protein_coding
description:
  Erlin-2; Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5- trisphosphate receptors (IP3Rs) such as ITPR1. Promotes sterol- accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex. Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex (By similarity).


ensembl_gene_id: ENSPPYP00000020750
symbol: PLPBP
gene_biotype: protein_coding
description:
  Pyridoxal phosphate homeostasis protein; Pyridoxal 5'-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5'- phosphate (PLP), the active form of vitamin B6.


ensembl_gene_id: ENSPPYP00000020760
symbol: STAR
gene_biotype: protein_coding
description:
  Steroidogenic acute regulatory protein, mitochondrial; Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone. Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where it is cleaved to pregnenolone.


ensembl_gene_id: ENSPPYP00000020761
symbol: LSM1
gene_biotype: protein_coding
description:
  U6 snRNA-associated Sm-like protein LSm1; Plays a role in the degradation of histone mRNAs, the only eukaryotic mRNAs that are not polyadenylated. Probably also part of an LSm subunits-containing complex involved in the general process of mRNA degradation.


ensembl_gene_id: ENSPPYP00000020791
symbol: GINS4
gene_biotype: protein_coding
description:
  DNA replication complex GINS protein SLD5; The GINS complex plays an essential role in the initiation of DNA replication; Belongs to the GINS4/SLD5 family.


ensembl_gene_id: ENSPPYP00000020792
symbol: GPAT4
gene_biotype: protein_coding
description:
  Glycerol-3-phosphate acyltransferase 4; Converts glycerol-3-phosphate to 1-acyl-sn-glycerol-3- phosphate (lysophosphatidic acid or LPA) by incorporating an acyl moiety at the sn-1 position of the glycerol backbone (By similarity). Active against both saturated and unsaturated long-chain fatty acyl- CoAs (By similarity); Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family.


ensembl_gene_id: ENSPPYP00000020802
symbol: PLAT
gene_biotype: protein_coding
description:
  Tissue-type plasminogen activator chain A; Converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events (By similarity); Belongs to the peptidase S1 family.


ensembl_gene_id: ENSPPYP00000020808
symbol: VDAC3
gene_biotype: protein_coding
description:
  Voltage-dependent anion-selective channel protein 3; Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules; Belongs to the eukaryotic mitochondrial porin family.


ensembl_gene_id: ENSPPYP00000020809
symbol: SLC20A2
gene_biotype: protein_coding
description:
  Phosphate transporter; Sodium-phosphate symporter which plays a fundamental housekeeping role in phosphate transport. Belongs to the inorganic phosphate transporter (PiT) (TC 2.A.20) family.


ensembl_gene_id: ENSPPYP00000020815
symbol: THAP1
gene_biotype: protein_coding
description:
  THAP domain-containing protein 1; DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptotic activity by potentiating both serum- withdrawal and TNF-induced apoptosis (By similarity).


ensembl_gene_id: ENSPPYP00000020831
symbol: UBE2V2
gene_biotype: protein_coding
description:
  Ubiquitin-conjugating enzyme E2 variant 2; Has no ubiquitin ligase activity on its own. The UBE2V2/UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through 'Lys-63'. This type of poly- ubiquitination 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 (By similarity); Belongs to the ubiquitin-c [...]


ensembl_gene_id: ENSPPYP00000020844
symbol: ATP6V1H
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit H; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates ATPase activity of the enzyme and couples ATPase activity to proton flow. 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.


ensembl_gene_id: ENSPPYP00000020848
symbol: LYPLA1
gene_biotype: protein_coding
description:
  Acyl-protein thioesterase 1; Hydrolyzes fatty acids from S-acylated cysteine residues in proteins such as trimeric G alpha proteins or HRAS. Has depalmitoylating activity toward KCNMA1. Has low lysophospholipase activity (By similarity); Belongs to the AB hydrolase superfamily. AB hydrolase 2 family.


ensembl_gene_id: ENSPPYP00000020863
symbol: SDR16C5
gene_biotype: protein_coding
description:
  Short chain dehydrogenase/reductase family 16C member 5; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPPYP00000020877
symbol: RAB2A
gene_biotype: protein_coding
description:
  Ras-related protein Rab-2A; Required for protein transport from the endoplasmic reticulum to the Golgi complex.


ensembl_gene_id: ENSPPYP00000020881
symbol: CLVS1
gene_biotype: protein_coding
description:
  Clavesin-1; Required for normal morphology of late endosomes and/or lysosomes in neurons. Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (By similarity).


ensembl_gene_id: ENSPPYP00000020890
symbol: YTHDF3
gene_biotype: protein_coding
description:
  YTH domain-containing family protein 3; Specifically recognizes and binds N6-methyladenosine (m6A)- containing RNAs and promotes RNA translation efficiency (By similarity). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability (By similarity). Shares m6A- containing mRNAs targets with YTHDF1 and YTHDF2, and regulates different processes depending on the context (By similarity). Facilitates the translation of targeted mRNAs in cooperation with YTHDF1 by binding to m6A-containing mRN [...]


ensembl_gene_id: ENSPPYP00000020897
symbol: MTFR1
gene_biotype: protein_coding
description:
  Mitochondrial fission regulator 1; May play a role in mitochondrial aerobic respiration. May also regulate mitochondrial organization and fission (By similarity). Belongs to the MTFR1 family.


ensembl_gene_id: ENSPPYP00000020904
symbol: RRS1
gene_biotype: protein_coding
description:
  Ribosome biogenesis regulatory protein; Involved in ribosomal large subunit assembly. Belongs to the RRS1 family.


ensembl_gene_id: ENSPPYP00000020906
symbol: ADHFE1
gene_biotype: protein_coding
description:
  Hydroxyacid-oxoacid transhydrogenase, mitochondrial; Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG). L-3-hydroxybutyrate (L-3-OHB) is also a substrate for HOT when using 2- KG as hydrogen acceptor, resulting in the formation of D-2-HG (By similarity).


ensembl_gene_id: ENSPPYP00000020908
symbol: VXN
gene_biotype: protein_coding
description:
  Vexin; Required for neurogenesis in the neural plate and retina. Strongly cooperates with neural bHLH factors to promote neurogenesis.


ensembl_gene_id: ENSPPYP00000020918
symbol: SGK3
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase Sgk3; Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, proliferation, survival and migration. Up-regulates Na(+) channels: SCNN1A/ENAC and SCN5A, K(+) channels: KCNA3/KV1.3, KCNE1, KCNQ1 and KCNH2/HERG, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channel: BSND, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, amino acid transporters: SLC1A5/ASCT2 and SLC6A19, glutamate [...]


ensembl_gene_id: ENSPPYP00000020934
symbol: TRAM1
gene_biotype: protein_coding
description:
  Translocating chain-associated membrane protein 1; Stimulatory or required for the translocation of secretory proteins across the ER membrane; Belongs to the TRAM family.


ensembl_gene_id: ENSPPYP00000020944
symbol: RPL7
gene_biotype: protein_coding
description:
  60S ribosomal protein L7; Component of the large ribosomal subunit (By similarity). Binds to G-rich structures in 28S rRNA and in mRNAs. Plays a regulatory role in the translation apparatus; inhibits cell-free translation of mRNAs (By similarity); Belongs to the universal ribosomal protein uL30 family.


ensembl_gene_id: ENSPPYP00000020960
symbol: PLN
gene_biotype: protein_coding
description:
  Cardiac phospholamban; Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN.


ensembl_gene_id: ENSPPYP00000020966
symbol: IL7
gene_biotype: protein_coding
description:
  Interleukin-7; Hematopoietic growth factor capable of stimulating the proliferation of lymphoid progenitors. It is important for proliferation during certain stages of B-cell maturation. Belongs to the IL-7/IL-9 family.


ensembl_gene_id: ENSPPYP00000020976
symbol: PMP2
gene_biotype: protein_coding
description:
  Peripheral myelin protein 2; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPPYP00000020978
symbol: FABP4
gene_biotype: protein_coding
description:
  Fatty acid binding protein 4; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPPYP00000020980
symbol: SNX16
gene_biotype: protein_coding
description:
  Sorting nexin-16; May be involved in several stages of intracellular trafficking. Plays a role in protein transport from early to late endosomes. Plays a role in protein transport to the lysosome. Promotes degradation of EGFR after EGF signaling (By similarity); Belongs to the sorting nexin family.


ensembl_gene_id: ENSPPYP00000020981
symbol: IMPA1
gene_biotype: protein_coding
description:
  Inositol monophosphatase 1; Responsible for the provision of inositol required for synthesis of phosphatidylinositol and polyphosphoinositides and has been implicated as the pharmacological target for lithium action in brain. Has broad substrate specificity and can use myo-inositol monophosphates, myo-inositol 1,3-diphosphate, myo-inositol 1,4- diphosphate, scyllo-inositol-phosphate, D-galactose 1-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta- glycerophosphate, and 2'-AMP as substrates.


ensembl_gene_id: ENSPPYP00000020999
symbol: ATP6V0D2
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit d 2; Subunit of the integral membrane V0 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 coupling of proton transport and ATP hydrolysis (By similarity); Belongs to the V-ATPase V0D/AC39 subunit family.


ensembl_gene_id: ENSPPYP00000021004
symbol: CPNE3
gene_biotype: protein_coding
description:
  Copine-3; Calcium-dependent phospholipid-binding protein that plays a role in ERBB2-mediated tumor cell migration in response to growth factor heregulin stimulation; Belongs to the copine family.


ensembl_gene_id: ENSPPYP00000021009
symbol: RIPK2
gene_biotype: protein_coding
description:
  Receptor-interacting serine/threonine-protein kinase 2; Serine/threonine/tyrosine kinase that plays an essential role in modulation of innate and adaptive immune responses. Upon stimulation by bacterial peptidoglycans, NOD1 and NOD2 are activated, oligomerize and recruit RIPK2 through CARD-CARD domains.


ensembl_gene_id: ENSPPYP00000021011
symbol: NBN
gene_biotype: protein_coding
description:
  Nibrin; Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double- strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand- specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recr [...]


ensembl_gene_id: ENSPPYP00000021013
symbol: CALB1
gene_biotype: protein_coding
description:
  Calbindin; Buffers cytosolic calcium. May stimulate a membrane Ca(2+)- ATPase and a 3',5'-cyclic nucleotide phosphodiesterase (By similarity).


ensembl_gene_id: ENSPPYP00000021021
symbol: SLC26A7
gene_biotype: protein_coding
description:
  Anion exchange transporter; Acts as a sodium-independent DIDS-sensitive anion exchanger mediating bicarbonate, chloride, sulfate and oxalate transport. May play a role in the maintenance of the electrolyte and acid-base homeostasis in the kidney, by acting as a distal excretory segment- specific anion exchanger, specifically chloride. Plays a major role in gastric acid secretion (By similarity); Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSPPYP00000021023
symbol: TRIQK
gene_biotype: protein_coding
description:
  Triple QxxK/R motif-containing protein; May play a role in cell growth and maintenance of cell morphology; Belongs to the TRIQK family.


ensembl_gene_id: ENSPPYP00000021027
symbol: PDP1
gene_biotype: protein_coding
description:
  [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial; Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex.


ensembl_gene_id: ENSPPYP00000021031
symbol: GEM
gene_biotype: protein_coding
description:
  GTP-binding protein GEM; Could be a regulatory protein, possibly participating in receptor-mediated signal transduction at the plasma membrane. Has guanine nucleotide-binding activity but undetectable intrinsic GTPase activity (By similarity); Belongs to the small GTPase superfamily. RGK family.


ensembl_gene_id: ENSPPYP00000021036
symbol: DPY19L4
gene_biotype: protein_coding
description:
  Probable C-mannosyltransferase DPY19L4; Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins; Belongs to the dpy-19 family.


ensembl_gene_id: ENSPPYP00000021046
symbol: UQCRB
gene_biotype: protein_coding
description:
  Cytochrome b-c1 complex subunit 7; Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inn [...]


ensembl_gene_id: ENSPPYP00000021050
symbol: CPQ
gene_biotype: protein_coding
description:
  Carboxypeptidase Q; Carboxypeptidase that may play an important role in the hydrolysis of circulating peptides. Catalyzes the hydrolysis of dipeptides with unsubstituted terminals into amino acids. May play a role in the liberation of thyroxine hormone from its thyroglobulin (Tg) precursor (By similarity).


ensembl_gene_id: ENSPPYP00000021063
symbol: KCNS2
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily S member 2; Belongs to the potassium channel family.


ensembl_gene_id: ENSPPYP00000021076
symbol: PABPC1
gene_biotype: protein_coding
description:
  Polyadenylate-binding protein 1; Binds the poly(A) tail of mRNA, including that of its own transcript, and regulates processes of mRNA metabolism such as pre-mRNA splicing and mRNA stability. Its function in translational initiation regulation can either be enhanced by PAIP1 or repressed by PAIP2. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo. Involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region deter [...]


ensembl_gene_id: ENSPPYP00000021077
symbol: YWHAZ
gene_biotype: protein_coding
description:
  14-3-3 protein zeta/delta; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Induces ARHGEF7 activity on RAC1 as well as lamellipodia and membrane ruffle formation (By similarity). In neurons, regulates spine maturation through the modulation of ARHGEF7 activity (By similarity); Belongs to the 14-3-3 family.


ensembl_gene_id: ENSPPYP00000021082
symbol: NCALD
gene_biotype: protein_coding
description:
  Neurocalcin-delta; May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds three calcium ions (By similarity). Belongs to the recoverin family.


ensembl_gene_id: ENSPPYP00000021083
symbol: RRM2B
gene_biotype: protein_coding
description:
  Ribonucleoside-diphosphate reductase subunit M2 B; Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage (By similarity). Belongs to the ribonucleoside diphosphate reductase small chain family.


ensembl_gene_id: ENSPPYP00000021093
symbol: ATP6V1C1
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit C 1; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells (By similarity).


ensembl_gene_id: ENSPPYP00000021096
symbol: FZD6
gene_biotype: protein_coding
description:
  Frizzled-6; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to i [...]


ensembl_gene_id: ENSPPYP00000021100
symbol: DCAF13
gene_biotype: protein_coding
description:
  DDB1- and CUL4-associated factor 13; Possible role in ribosomal RNA processing. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex (By similarity); Belongs to the WD repeat DCAF13/WDSOF1 family.


ensembl_gene_id: ENSPPYP00000021104
symbol: LRP12
gene_biotype: protein_coding
description:
  Low-density lipoprotein receptor-related protein 12; Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor (By similarity); Belongs to the LDLR family.


ensembl_gene_id: ENSPPYP00000021115
symbol: EIF3E
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit E; 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: ENSPPYP00000021120
symbol: EBAG9
gene_biotype: protein_coding
description:
  Receptor-binding cancer antigen expressed on SiSo cells; May participate in suppression of cell proliferation and induces apoptotic cell death through activation of interleukin-1-beta converting enzyme (ICE)-like proteases.


ensembl_gene_id: ENSPPYP00000021123
symbol: KCNV1
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel subfamily V member 1; Potassium channel subunit that does not form functional channels by itself. Modulates KCNB1 and KCNB2 channel activity by shifting the threshold for inactivation to more negative values and by slowing the rate of inactivation. Can down-regulate the channel activity of KCNB1, KCNB2, KCNC4 and KCND1, possibly by trapping them in intracellular membranes (By similarity); Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.1/KCNV1 sub-subfamily.


ensembl_gene_id: ENSPPYP00000021126
symbol: EIF3H
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit H; 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: ENSPPYP00000021133
symbol: EXT1
gene_biotype: protein_coding
description:
  Exostosin-1; Glycosyltransferase required for the biosynthesis of heparan- sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Required for the exosomal release of SDCBP, CD63 and syndecan (By similarity).


ensembl_gene_id: ENSPPYP00000021136
symbol: TNFRSF11B
gene_biotype: protein_coding
description:
  Tumor necrosis factor receptor superfamily member 11B; Acts as decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis.


ensembl_gene_id: ENSPPYP00000021138
symbol: MAL2
gene_biotype: protein_coding
description:
  Protein MAL2; Member of the machinery of polarized transport. Required for the indirect transcytotic route at the step of the egress of the transcytosing cargo from perinuclear endosomes in order for it to travel to the apical surface via a raft-dependent pathway (By similarity).


ensembl_gene_id: ENSPPYP00000021151
symbol: DERL1
gene_biotype: protein_coding
description:
  Derlin-1; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded protein. Also involved in endoplasmic reticulum stress-induced pre- emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for pro [...]


ensembl_gene_id: ENSPPYP00000021158
symbol: ATAD2
gene_biotype: protein_coding
description:
  ATPase family AAA domain-containing protein 2; May be a transcriptional coactivator of the nuclear receptor ESR1 required to induce the expression of a subset of estradiol target genes, such as CCND1, MYC and E2F1. May play a role in the recruitment or occupancy of CREBBP at some ESR1 target gene promoters. May be required for histone hyperacetylation (By similarity); Belongs to the AAA ATPase family.


ensembl_gene_id: ENSPPYP00000021168
symbol: RNF139
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RNF139; E3-ubiquitin ligase; acts as a negative regulator of the cell proliferation through mechanisms involving G2/M arrest and cell death. Required for MHC class I ubiquitination in cells expressing the cytomegalovirus protein US2 before dislocation from the endoplasmic reticulum (ER). Affects SREBP processing by hindering the SREBP/SCAP complex translocation from the ER to the Golgi, thereby reducing SREBF2 target gene expression. Required for INSIG1 ubiquitination. May be required for EIF3 complex ubiquitination. May function as a signaling receptor.


ensembl_gene_id: ENSPPYP00000021170
symbol: NDUFB9
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not 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: ENSPPYP00000021175
symbol: WASHC5
gene_biotype: protein_coding
description:
  WASH complex subunit 5; Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting. May be involved in axonal outgrowth. Involved in cellular localization of ADRB2. Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 (By similarity).


ensembl_gene_id: ENSPPYP00000021242
symbol: CR201_G0050809
gene_biotype: protein_coding
description:
  Nicotinate phosphoribosyltransferase; Catalyzes the first step in the biosynthesis of NAD from nicotinic acid, the ATP-dependent synthesis of beta-nicotinate D- ribonucleotide from nicotinate and 5-phospho-D-ribose 1-phosphate. Belongs to the NAPRTase family.


ensembl_gene_id: ENSPPYP00000021246
symbol: TSTA3
gene_biotype: protein_coding
description:
  GDP-L-fucose synthase; Catalyzes the two-step NADP-dependent conversion of GDP-4- dehydro-6-deoxy-D-mannose to GDP-fucose, involving an epimerase and a reductase reaction; Belongs to the NAD(P)-dependent epimerase/dehydratase family. Fucose synthase subfamily.


ensembl_gene_id: ENSPPYP00000021256
symbol: PUF60
gene_biotype: protein_coding
description:
  Poly(U)-binding-splicing factor PUF60; DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3'-splice si [...]


ensembl_gene_id: ENSPPYP00000021268
symbol: MAF1
gene_biotype: protein_coding
description:
  Repressor of RNA polymerase III transcription MAF1; Element of the TORC1 signaling pathway that acts as a mediator of diverse signals and that represses RNA polymerase III transcription. Inhibits the de novo assembly of TFIIIB onto DNA. Belongs to the MAF1 family.


ensembl_gene_id: ENSPPYP00000021281
symbol: VPS28
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 28 homolog; Component of the ESCRT-I complex (endosomal sorting complex required for transport I), a regulator of vesicular trafficking process.


ensembl_gene_id: ENSPPYP00000021297
symbol: RPL8
gene_biotype: protein_coding
description:
  60S ribosomal protein L8; Component of the large ribosomal subunit. Belongs to the universal ribosomal protein uL2 family.


ensembl_gene_id: ENSPPYP00000021300
symbol: ZNF7
gene_biotype: protein_coding
description:
  Zinc finger protein 7; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000021352
symbol: ALDH1B1
gene_biotype: protein_coding
description:
  Aldehyde dehydrogenase X, mitochondrial; ALDHs play a major role in the detoxification of alcohol- derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation (By similarity).


ensembl_gene_id: ENSPPYP00000021384
symbol: GBA2
gene_biotype: protein_coding
description:
  Non-lysosomal glucosylceramidase; Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramide (GlcCer) to free glucose and ceramide.


ensembl_gene_id: ENSPPYP00000021420
symbol: IL11RA
gene_biotype: protein_coding
description:
  Interleukin-11 receptor subunit alpha; Receptor for interleukin-11. The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in the control of proliferation and/or differentiation of skeletogenic progenitor or other mesenchymal cells. Essential for the normal development of craniofacial bones and teeth (By similarity).


ensembl_gene_id: ENSPPYP00000021442
symbol: CHMP5
gene_biotype: protein_coding
description:
  Charged multivesicular body protein 5; Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the  [...]


ensembl_gene_id: ENSPPYP00000021446
symbol: DNAJA1
gene_biotype: protein_coding
description:
  DnaJ homolog subfamily A member 1; Co-chaperone for HSPA8/Hsc70. Plays a role in protein transport into mitochondria via its role as co-chaperone. Functions as co-chaperone for HSPA1B and negatively regulates the translocation of BAX from the cytosol to mitochondria in response to cellular stress, thereby protecting cells against apoptosis. Stimulates ATP hydrolysis, but not the folding of unfolded proteins mediated by HSPA1A (in vitro). Promotes apoptosis in response to cellular stress mediated by exposure to anisomycin or UV (By similarity).


ensembl_gene_id: ENSPPYP00000021452
symbol: NDUFB6
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6; 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: ENSPPYP00000021474
symbol: ELAVL2
gene_biotype: protein_coding
description:
  ELAV-like protein 2; RNA-binding protein that binds to the 3' untranslated region (3'UTR) of target mRNAs (By similarity). Seems to recognize a GAAA motif (By similarity). Can bind to its own 3'UTR, the FOS 3'UTR and the ID 3'UTR (By similarity); Belongs to the RRM elav family.


ensembl_gene_id: ENSPPYP00000021480
symbol: MTAP
gene_biotype: protein_coding
description:
  S-methyl-5'-thioadenosine phosphorylase; Catalyzes the reversible phosphorylation of S-methyl-5'- thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis. Responsible for the first step in the methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates.


ensembl_gene_id: ENSPPYP00000021521
symbol: ZDHHC21
gene_biotype: protein_coding
description:
  Probable palmitoyltransferase ZDHHC21; Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane. This affects rapid intracellular signaling by sex hormones via ERK and AKT kinases and the generation of cAMP, but does not affect that mediated by their nuclear receptor (By similarity); Belongs to the DHHC palmitoyltransferase family.


ensembl_gene_id: ENSPPYP00000021533
symbol: GLDC
gene_biotype: protein_coding
description:
  Glycine cleavage system P protein; The glycine cleavage system catalyzes the degradation of glycine.


ensembl_gene_id: ENSPPYP00000021536
symbol: IL33
gene_biotype: protein_coding
description:
  Interleukin-33; Cytokine that binds to and signals through the IL1RL1/ST2 receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells. Involved in the maturation of Th2 cells inducing the secretion of T-helper type 2-associated cytokines. Also involved in activation of mast cells, basophils, eosinophils and natural killer cells. Acts as a chemoattractant for Th2 cells, and may function as an 'alarmin', that amplifies immune responses during tissue injury (By similarity); Belongs to the IL-1 family. Highly divergent.


ensembl_gene_id: ENSPPYP00000021550
symbol: INSL6
gene_biotype: protein_coding
description:
  Insulin-like peptide INSL6; May have a role in sperm development and fertilization. Belongs to the insulin family.


ensembl_gene_id: ENSPPYP00000021551
symbol: JAK2
gene_biotype: protein_coding
description:
  Tyrosine-protein kinase JAK2; Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type II receptors including IFN-alpha, IFN- beta, IFN-gamma and multiple interleukins. Following ligand-binding to cell surface receptors [...]


ensembl_gene_id: ENSPPYP00000021553
symbol: AK3
gene_biotype: protein_coding
description:
  GTP:AMP phosphotransferase AK3, mitochondrial; Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has GTP:AMP phosphotransferase and ITP:AMP phosphotransferase activities.


ensembl_gene_id: ENSPPYP00000021554
symbol: CDC37L1
gene_biotype: protein_coding
description:
  Hsp90 co-chaperone Cdc37-like 1; Co-chaperone that binds to numerous proteins and promotes their interaction with Hsp70 and Hsp90.


ensembl_gene_id: ENSPPYP00000021609
symbol: ANXA1
gene_biotype: protein_coding
description:
  Annexin A1; Plays important roles in the innate immune response as effector of glucocorticoid-mediated responses and regulator of the inflammatory process. Has anti-inflammatory activity. Plays a role in glucocorticoid-mediated down-regulation of the early phase of the inflammatory response. Promotes resolution of inflammation and wound healing (By similarity). Functions at least in part by activating the formyl peptide receptors and downstream signaling cascades. Promotes chemotaxis of granulocytes and monocytes via activation of the formyl peptide receptors (By similarity). Contribut [...]


ensembl_gene_id: ENSPPYP00000021627
symbol: PRUNE2
gene_biotype: protein_coding
description:
  Protein prune homolog 2; May play an important role in regulating differentiation, survival and aggressiveness of the tumor cells.


ensembl_gene_id: ENSPPYP00000021647
symbol: FRMD3
gene_biotype: protein_coding
description:
  FERM domain-containing protein 3; Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer.


ensembl_gene_id: ENSPPYP00000021651
symbol: UBQLN1
gene_biotype: protein_coding
description:
  Ubiquilin-1; Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin- proteasome system (UPS), autophagy and endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome. Plays a role in the ERAD pathway via its interaction with ER-localized proteins UBXN4, VCP and HERPUD1 and may form a lin [...]


ensembl_gene_id: ENSPPYP00000021658
symbol: HNRNPK
gene_biotype: protein_coding
description:
  Heterogeneous nuclear ribonucleoprotein K; One of the major pre-mRNA-binding proteins. Binds tenaciously to poly(C) sequences. Likely to play a role in the nuclear metabolism of hnRNAs, particularly for pre-mRNAs that contain cytidine-rich sequences. Can also bind poly(C) single-stranded DNA. Plays an important role in p53/TP53 response to DNA damage, acting at the level of both transcription activation and repression. When sumoylated, acts as a transcriptional coactivator of p53/TP53, playing a role in p21/CDKN1A and 14-3-3 sigma/SFN induction. As far as transcription repression is co [...]


ensembl_gene_id: ENSPPYP00000021667
symbol: NAA35
gene_biotype: protein_coding
description:
  N-alpha-acetyltransferase 35, NatC auxiliary subunit; Auxillary component of the N-terminal acetyltransferase C (NatC) complex which catalyzes acetylation of N-terminal methionine residues. Involved in regulation of apoptosis and proliferation of smooth muscle cells (By similarity).


ensembl_gene_id: ENSPPYP00000021685
symbol: CDK20
gene_biotype: protein_coding
description:
  Cyclin-dependent kinase 20; Required for high-level Shh responses in the developing neural tube. Together with TBC1D32, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to SHH signaling. Involved in cell growth. Activates CDK2, a kinase involved in the control of the cell cycle, by phosphorylating residue 'Thr-160' (By similarity).


ensembl_gene_id: ENSPPYP00000021687
symbol: SPIN1
gene_biotype: protein_coding
description:
  Spindlin-1; Chromatin reader that specifically recognizes and binds histone H3 both trimethylated at 'Lys-4' and asymmetrically dimethylated at 'Arg-8' (H3K4me3 and H3R8me2a) and acts as an activator of Wnt signaling pathway downstream of PRMT2. In case of cancer, promotes cell cancer proliferation via activation of the Wnt signaling pathway. Overexpression induces metaphase arrest and chromosomal instability. Localizes to active rDNA loci and promotes the expression of rRNA genes. May play a role in cell-cycle regulation during the transition from gamete to embryo. Involved in oocyte  [...]


ensembl_gene_id: ENSPPYP00000021700
symbol: DIRAS2
gene_biotype: protein_coding
description:
  GTP-binding protein Di-Ras2; Displays low GTPase activity and exists predominantly in the GTP-bound form; Belongs to the small GTPase superfamily. Di-Ras family.


ensembl_gene_id: ENSPPYP00000021703
symbol: NFIL3
gene_biotype: protein_coding
description:
  Nuclear factor interleukin-3-regulated protein; Acts as a transcriptional regulator that recognizes and binds to the sequence 5'-[GA]TTA[CT]GTAA[CT]-3', a sequence present in many cellular and viral promoters. Represses transcription from promoters with activating transcription factor (ATF) sites. Represses promoter activity in osteoblasts. Represses transcriptional activity of PER1. Represses transcriptional activity of PER2 via the B-site on the promoter. Activates transcription from the interleukin-3 promoter in T- cells. Competes for the same consensus-binding site with PAR DNA- bi [...]


ensembl_gene_id: ENSPPYP00000021705
symbol: ROR2
gene_biotype: protein_coding
description:
  Receptor tyrosine kinase like orphan receptor 2; Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily.


ensembl_gene_id: ENSPPYP00000021706
symbol: SPTLC1
gene_biotype: protein_coding
description:
  Serine palmitoyltransferase 1; Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to [...]


ensembl_gene_id: ENSPPYP00000021715
symbol: OGN
gene_biotype: protein_coding
description:
  Mimecan; Induces bone formation in conjunction with TGF-beta-1 or TGF- beta-2; Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily.


ensembl_gene_id: ENSPPYP00000021720
symbol: IPPK
gene_biotype: protein_coding
description:
  Inositol-pentakisphosphate 2-kinase; Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate).


ensembl_gene_id: ENSPPYP00000021725
symbol: FGD3
gene_biotype: protein_coding
description:
  FYVE, RhoGEF and PH domain-containing protein 3; Promotes the formation of filopodia. May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape (By similarity).


ensembl_gene_id: ENSPPYP00000021749
symbol: FANCC
gene_biotype: protein_coding
description:
  Fanconi anemia group C protein homolog; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1.


ensembl_gene_id: ENSPPYP00000021754
symbol: HSD17B3
gene_biotype: protein_coding
description:
  Hydroxysteroid 17-beta dehydrogenase 3; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPPYP00000021765
symbol: TDRD7
gene_biotype: protein_coding
description:
  Tudor domain-containing protein 7; Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis (By similarity).


ensembl_gene_id: ENSPPYP00000021785
symbol: SEC61B
gene_biotype: protein_coding
description:
  Protein transport protein Sec61 subunit beta; Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER) (By similarity). Required for PKD1/Polycystin-1 biogenesis (By similarity).


ensembl_gene_id: ENSPPYP00000021790
symbol: TEX10
gene_biotype: protein_coding
description:
  Testis-expressed protein 10; Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit.


ensembl_gene_id: ENSPPYP00000021795
symbol: MRPL50
gene_biotype: protein_coding
description:
  39S ribosomal protein L50, mitochondrial; Belongs to the mitochondrion-specific ribosomal protein mL50 family.


ensembl_gene_id: ENSPPYP00000021822
symbol: ELP1
gene_biotype: protein_coding
description:
  Elongator complex protein 1; Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation. Belongs to the ELP1/IKA1 family.


ensembl_gene_id: ENSPPYP00000021823
symbol: ABITRAM
gene_biotype: protein_coding
description:
  Protein Abitram; Actin-binding protein that regulates actin polymerization, filopodia dynamics and increases the branching of proximal dendrites of developing neurons; Belongs to the ABITRAM family.


ensembl_gene_id: ENSPPYP00000021824
symbol: CTNNAL1
gene_biotype: protein_coding
description:
  Alpha-catulin; May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor (ARHGEF1).


ensembl_gene_id: ENSPPYP00000021834
symbol: TXN
gene_biotype: protein_coding
description:
  Thioredoxin; Participates in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyzes dithiol-disulfide exchange reactions (By similarity). Plays a role in the reversible S-nitrosylation of cysteine residues in target proteins, and thereby contributes to the response to intracellular nitric oxide. Nitrosylates the active site Cys of CASP3 in response to nitric oxide (NO), and thereby inhibits caspase-3 activity. Induces the FOS/JUN AP-1 DNA binding activity in ionizing radiation (IR) cells through its oxidation/reduction status  [...]


ensembl_gene_id: ENSPPYP00000021840
symbol: ECPAS
gene_biotype: protein_coding
description:
  Proteasome adapter and scaffold protein ECM29; Adapter/scaffolding protein that binds to the 26S proteasome, motor proteins and other compartment specific proteins. May couple the proteasome to different compartments including endosome, endoplasmic reticulum and centrosome. May play a role in ERAD and other enhanced proteolysis. Promotes proteasome dissociation under oxidative stress.


ensembl_gene_id: ENSPPYP00000021856
symbol: HSDL2
gene_biotype: protein_coding
description:
  Hydroxysteroid dehydrogenase-like protein 2; Has apparently no steroid dehydrogenase activity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPPYP00000021867
symbol: SLC31A1
gene_biotype: protein_coding
description:
  High affinity copper uptake protein 1; High-affinity, saturable copper transporter involved in dietary copper uptake.


ensembl_gene_id: ENSPPYP00000021868
symbol: CDC26
gene_biotype: protein_coding
description:
  Anaphase-promoting complex subunit CDC26; 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. May recruit the E2 ubiquitin-conjugating enzymes to the complex (By similarity); Belongs to the CDC26  [...]


ensembl_gene_id: ENSPPYP00000021874
symbol: ALAD
gene_biotype: protein_coding
description:
  Delta-aminolevulinic acid dehydratase; Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen (By similarity); Belongs to the ALAD family.


ensembl_gene_id: ENSPPYP00000021877
symbol: POLE3
gene_biotype: protein_coding
description:
  DNA polymerase epsilon subunit 3; Accessory component of the DNA polymerase epsilon complex (By similarity). Participates in DNA repair and in chromosomal DNA replication (By similarity). Forms a complex with CHRAC1 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome-remodeling activity of ISWI/SNF2H and ACF1 (By similarity).


ensembl_gene_id: ENSPPYP00000021887
symbol: ORM1
gene_biotype: protein_coding
description:
  Alpha-1-acid glycoprotein; Functions as transport protein in the blood stream. Belongs to the calycin superfamily. Lipocalin family.


ensembl_gene_id: ENSPPYP00000021920
symbol: RAB14
gene_biotype: protein_coding
description:
  Ras-related protein Rab-14; Involved in membrane trafficking between the Golgi complex and endosomes during early embryonic development. Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development. May act by modulating the kinesin KIF16B-cargo association to endosomes. Regulates, together with its guanine nucleotide exchange factor DENND6A, the specific endocytic transport of ADAM10, N- cadherin/CDH2 shedding and cell [...]


ensembl_gene_id: ENSPPYP00000021947
symbol: RABGAP1
gene_biotype: protein_coding
description:
  Rab GTPase-activating protein 1; May act as a GTPase-activating protein of RAB6A. May play a role in microtubule nucleation by centrosome. May participate in a RAB6A-mediated pathway involved in the metaphase-anaphase transition (By similarity).


ensembl_gene_id: ENSPPYP00000021950
symbol: STRBP
gene_biotype: protein_coding
description:
  Spermatid perinuclear RNA-binding protein; Involved in spermatogenesis and sperm function. Plays a role in regulation of cell growth. Binds to double-stranded DNA and RNA. Binds most efficiently to poly(I:C) RNA than to poly(dI:dC) DNA. Binds also to single-stranded poly(G) RNA. Binds non-specifically to the mRNA PRM1 3'-UTR and adenovirus VA RNA (By similarity).


ensembl_gene_id: ENSPPYP00000021968
symbol: ARPC5L
gene_biotype: protein_coding
description:
  Actin-related protein 2/3 complex subunit 5-like protein; May function 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: ENSPPYP00000021970
symbol: SCAI
gene_biotype: protein_coding
description:
  Protein SCAI; Tumor suppressor which functions to suppress MRTFA-induced SRF transcriptional activity.


ensembl_gene_id: ENSPPYP00000021973
symbol: HSPA5
gene_biotype: protein_coding
description:
  Endoplasmic reticulum chaperone BiP; Endoplasmic reticulum chaperone that plays a key role in protein folding and quality control in the endoplasmic reticulum lumen (By similarity). Involved in the correct folding of proteins and degradation of misfolded proteins via its interaction with DNAJC10/ERdj5, probably to facilitate the release of DNAJC10/ERdj5 from its substrate (By similarity). Acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR). In the unstressed endoplasmic reticulum, recruited by DNAJB9/ERdj4 to the luminal region of ERN1/IRE1, leading to dis [...]


ensembl_gene_id: ENSPPYP00000021975
symbol: MAPKAP1
gene_biotype: protein_coding
description:
  Target of rapamycin complex 2 subunit MAPKAP1; Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the  [...]


ensembl_gene_id: ENSPPYP00000021986
symbol: SLC2A8
gene_biotype: protein_coding
description:
  SLC2A8 isoform 4; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPPYP00000021991
symbol: STXBP1
gene_biotype: protein_coding
description:
  Syntaxin-binding protein 1; May participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins. Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions (By similarity).


ensembl_gene_id: ENSPPYP00000022000
symbol: FPGS
gene_biotype: protein_coding
description:
  Folylpolyglutamate synthase; Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis; Belongs to the folylpolyglutamate synthase family.


ensembl_gene_id: ENSPPYP00000022003
symbol: AK1
gene_biotype: protein_coding
description:
  Adenylate kinase isoenzyme 1; Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism.


ensembl_gene_id: ENSPPYP00000022006
symbol: ST6GALNAC4
gene_biotype: protein_coding
description:
  ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSPPYP00000022008
symbol: DPM2
gene_biotype: protein_coding
description:
  Dolichol phosphate-mannose biosynthesis regulatory protein; Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization. Belongs to the DPM2 family.


ensembl_gene_id: ENSPPYP00000022016
symbol: CR201_G0027598
gene_biotype: protein_coding
description:
  DNM1 isoform 20; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPPYP00000022019
symbol: URM1
gene_biotype: protein_coding
description:
  Ubiquitin-related modifier 1; Acts as a sulfur carrier required for 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Serves as sulfur donor in tRNA 2-thiolation reaction by being thiocarboxylated (-COSH) at its C-terminus by MOCS3. The sulfur is then transferred to tRNA to form 2-thiolation of mcm(5)S(2)U. Also acts as a ubiquitin-like protein (UBL) that is covalently conjugated via an isopeptide bond to lysine residues of target proteins such as MOCS3, ATPBD3, CTU2, USP15 and CAS. The thiocarboxylated form serves as substrate for co [...]


ensembl_gene_id: ENSPPYP00000022021
symbol: COQ4
gene_biotype: protein_coding
description:
  Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial; Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides; Belongs to the COQ4 family.


ensembl_gene_id: ENSPPYP00000022022
symbol: SLC27A4
gene_biotype: protein_coding
description:
  Long-chain fatty acid transport protein 4; Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Appears to be the principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids (VLCFAs). Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones (By similarity); [...]


ensembl_gene_id: ENSPPYP00000022026
symbol: ODF2
gene_biotype: protein_coding
description:
  Outer dense fiber protein 2; Seems to be a major component of sperm tail outer dense fibers (ODF). ODFs are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail. May have a modulating influence on sperm motility. Functions as a general scaffold protein that is specifically localized at the distal/subdistal appendages of mother centrioles. Component of the centrosome matrix required for the localization of PLK1 and NIN to th [...]


ensembl_gene_id: ENSPPYP00000022028
symbol: GLE1
gene_biotype: protein_coding
description:
  Nucleoporin GLE1; Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC) (By similarity).


ensembl_gene_id: ENSPPYP00000022035
symbol: ZER1
gene_biotype: protein_coding
description:
  Protein zer-1 homolog; Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC. Acts redudantly with ZYG11B to target substrates bearing N-terminal glycine degrons for proteasomal degradation. Involved in the clearance of proteolytic fragments generated by caspase cleavage during apoptosis since N-terminal glycine degrons are strongly enriched at caspase cleavage sites. Also important in the quality control of protein N-myristoylation in which N-terminal glycine degrons are conditionally exposed after a failure of N- myristoylation; Belongs to the  [...]


ensembl_gene_id: ENSPPYP00000022053
symbol: PTPA
gene_biotype: protein_coding
description:
  Serine/threonine-protein phosphatase 2A activator; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.


ensembl_gene_id: ENSPPYP00000022058
symbol: ASB6
gene_biotype: protein_coding
description:
  Ankyrin repeat and SOCS box protein 6; 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.


ensembl_gene_id: ENSPPYP00000022064
symbol: C9orf78
gene_biotype: protein_coding
description:
  Telomere length and silencing protein 1 homolog; Involved in the regulation of telomeric heterochromatin assembly and control of telomere length.


ensembl_gene_id: ENSPPYP00000022065
symbol: USP20
gene_biotype: protein_coding
description:
  Ubiquitin carboxyl-terminal hydrolase 20; Deubiquitinating enzyme involved in beta-2 adrenergic receptor (ADRB2) recycling. Acts as a regulator of G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination beta-2 adrenergic receptor (ADRB2). Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon dissociation, it is probably transferred to the translocated beta-arrestins, possibly leading to beta-arrestins de [...]


ensembl_gene_id: ENSPPYP00000022068
symbol: NCS1
gene_biotype: protein_coding
description:
  Neuronal calcium sensor 1; Neuronal calcium sensor, regulator of G protein-coupled receptor phosphorylation in a calcium dependent manner. Directly regulates GRK1 (RHOK), but not GRK2 to GRK5. Can substitute for calmodulin (By similarity). Stimulates PI4KB kinase activity (By similarity). Involved in long-term synaptic plasticity through its interaction with PICK1 (By similarity). May also play a role in neuron differentiation through inhibition of the activity of N-type voltage- gated calcium channel (By similarity); Belongs to the recoverin family.


ensembl_gene_id: ENSPPYP00000022077
symbol: PRDM12
gene_biotype: protein_coding
description:
  PR domain zinc finger protein 12; Involved in the positive regulation of histone H3-K9 dimethylation; Belongs to the class V-like SAM-binding methyltransferase superfamily.


ensembl_gene_id: ENSPPYP00000022083
symbol: AIF1L
gene_biotype: protein_coding
description:
  Allograft inflammatory factor 1-like; Actin-binding protein that promotes actin bundling. May neither bind calcium nor depend on calcium for function (By similarity).


ensembl_gene_id: ENSPPYP00000022097
symbol: MED27
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 27; 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: ENSPPYP00000022128
symbol: SURF1
gene_biotype: protein_coding
description:
  SURF1-like protein; Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Belongs to the SURF1 family.


ensembl_gene_id: ENSPPYP00000022130
symbol: SURF4
gene_biotype: protein_coding
description:
  Surfeit locus protein 4; May play a role in the maintenance of the architecture of the endoplasmic reticulum-Golgi intermediate compartment and of the Golgi. Belongs to the SURF4 family.


ensembl_gene_id: ENSPPYP00000022135
symbol: SLC2A6
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 6; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPPYP00000022172
symbol: PMPCA
gene_biotype: protein_coding
description:
  Mitochondrial-processing peptidase subunit alpha; Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins.


ensembl_gene_id: ENSPPYP00000022187
symbol: PHPT1
gene_biotype: protein_coding
description:
  14 kDa phosphohistidine phosphatase; Exhibits phosphohistidine phosphatase activity. Belongs to the janus family.


ensembl_gene_id: ENSPPYP00000022220
symbol: NDOR1
gene_biotype: protein_coding
description:
  NADPH-dependent diflavin oxidoreductase 1; Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery. Required for the maturation of extramitochondrial Fe-S proteins. Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis. Transfers electrons from NADPH to the Fe/S cluster of CIAPIN1. In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.


ensembl_gene_id: ENSPPYP00000022224
symbol: TUBB4B
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. Belongs to the tubulin family.


ensembl_gene_id: ENSPPYP00000022242
symbol: CACNA1B
gene_biotype: protein_coding
description:
  Voltage-dependent N-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-1B gives rise to N-type calcium currents.


ensembl_gene_id: ENSPPYP00000022282
symbol: NDUFA8
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8; 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: ENSPPYP00000022294
symbol: CUL2
gene_biotype: protein_coding
description:
  Cullin-2; Core component of multiple cullin-RING-based ECS (ElonginB/C- CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of target proteins. ECS complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (By similarity). May serve as a rigid scaffold in the complex and may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the associati [...]


ensembl_gene_id: ENSPPYP00000022304
symbol: ADA2
gene_biotype: protein_coding
description:
  Adenosine deaminase 2; Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity (By similarity).


ensembl_gene_id: ENSPPYP00000022342
symbol: USP41
gene_biotype: protein_coding
description:
  Ubl carboxyl-terminal hydrolase 18; Involved in the regulation of inflammatory response to interferon type 1. Can efficiently cleave only ISG15 fusions including native ISG15 conjugates linked via isopeptide bonds. Necessary to maintain a critical cellular balance of ISG15-conjugated proteins in both healthy and stressed organisms.


ensembl_gene_id: ENSPPYP00000022353
symbol: BET1L
gene_biotype: protein_coding
description:
  BET1-like protein; Vesicle SNARE required for targeting and fusion of retrograde transport vesicles with the Golgi complex. Required for the integrity of the Golgi complex (By similarity).


ensembl_gene_id: ENSPPYP00000022354
symbol: RIC8A
gene_biotype: protein_coding
description:
  Synembryn-A; Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins. Able to activate GNAI1, GNAO1 and GNAQ, but not GNAS by exchanging bound GDP for free GTP. Involved in regulation of microtubule pulling forces during mitotic movement of chromosomes by stimulating G(i)-alpha protein, possibly leading to release G(i)-alpha-GTP and NuMA proteins from the NuMA-GPSM2-G(i)- alpha-GDP complex. Also acts as an activator for G(q)-alpha (GNAQ) protein by enhancing the G(q)-coupled receptor-mediated ERK activation (By similarity).


ensembl_gene_id: ENSPPYP00000022362
symbol: TMEM41B
gene_biotype: protein_coding
description:
  Transmembrane protein 41B; Required for normal motor neuron development. Required for autophagosome formation; Belongs to the TMEM41 family.


ensembl_gene_id: ENSPPYP00000022509
symbol: MSL3
gene_biotype: protein_coding
description:
  Male-specific lethal 3 homolog; May be involved in chromatin remodeling and transcriptional regulation. May have a role in X inactivation. Component of the MSL complex which is responsible for the majority of histone H4 acetylation at 'Lys-16' which is implicated in the formation of higher-order chromatin structure. Specifically recognizes histone H4 monomethylated at 'Lys-20' (H4K20Me1) in a DNA-dependent manner and is proposed to be involved in chromosomal targeting of the MSL complex (By similarity).


ensembl_gene_id: ENSPPYP00000022511
symbol: PRPS2
gene_biotype: protein_coding
description:
  Ribose-phosphate pyrophosphokinase 2; Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis; Belongs to the ribose-phosphate pyrophosphokinase family.


ensembl_gene_id: ENSPPYP00000022513
symbol: TMSB4X
gene_biotype: protein_coding
description:
  Hematopoietic system regulatory peptide; Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization; Belongs to the thymosin beta family.


ensembl_gene_id: ENSPPYP00000022531
symbol: ASB11
gene_biotype: protein_coding
description:
  Ankyrin repeat and SOCS box protein 11; 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.


ensembl_gene_id: ENSPPYP00000022536
symbol: ACE2
gene_biotype: protein_coding
description:
  Processed angiotensin-converting enzyme 2; Carboxypeptidase which converts angiotensin I to angiotensin 1-9, a peptide of unknown function, and angiotensin II to angiotensin 1-7, a vasodilator (By similarity). Also able to hydrolyze apelin-13 and dynorphin-13 with high efficiency. By cleavage of angiotensin II, may be an important regulator of heart function (By similarity). By cleavage of angiotensin II, may also have a protective role in acute lung injury (By similarity). Plays an important role in amino acid transport by acting as binding partner of amino acid transporter SLC6A19 in [...]


ensembl_gene_id: ENSPPYP00000022548
symbol: RBBP7
gene_biotype: protein_coding
description:
  Histone-binding protein RBBP7; Core histone-binding subunit that may target chromatin remodeling factors, histone acetyltransferases 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 type B histone acetyltransferase (HAT) complex, which is required for chromatin assembly following DNA replication; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling and [...]


ensembl_gene_id: ENSPPYP00000022564
symbol: PHKA2
gene_biotype: protein_coding
description:
  Phosphorylase b kinase regulatory subunit; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I.


ensembl_gene_id: ENSPPYP00000022568
symbol: PDHA1
gene_biotype: protein_coding
description:
  Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.


ensembl_gene_id: ENSPPYP00000022574
symbol: EIF1AX
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 1A, X-chromosomal; Seems to be required for maximal rate of protein biosynthesis. Enhances ribosome dissociation into subunits and stabilizes the binding of the initiator Met-tRNA(I) to 40 S ribosomal subunits (By similarity).


ensembl_gene_id: ENSPPYP00000022581
symbol: SMPX
gene_biotype: protein_coding
description:
  Small muscular protein; Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair.


ensembl_gene_id: ENSPPYP00000022583
symbol: MBTPS2
gene_biotype: protein_coding
description:
  Membrane-bound transcription factor site-2 protease; Involved in regulated intramembrane proteolysis (RIP) that is the cleavage of membrane-spanning regulatory proteins by proteases within the plane of the membrane. It cleaves sterol-regulatory element- binding proteins (SREBPs) within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Mature N-terminal fragments shuttle to the nucleus and activate gene transcription. Involved in RIP-mediated regulation of bone formation; Belongs to the peptidase M50A family.


ensembl_gene_id: ENSPPYP00000022595
symbol: EIF2S3
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 2 subunit 3; As a subunit of eukaryotic initiation factor 2 (eIF2), involved in the early steps of protein synthesis. In the presence of GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAi and then recruits the 40S ribosomal complex, a step that determines the rate of protein translation. This step is followed by mRNA binding to form the 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 eIF2 and release of an eIF2-GDP binary complex. In o [...]


ensembl_gene_id: ENSPPYP00000022651
symbol: DYNLT3
gene_biotype: protein_coding
description:
  Dynein light chain Tctex-type 3; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Probably binds BUB3 as part of transport cargo. Required for the efficient progression through mitosis (By similarity).


ensembl_gene_id: ENSPPYP00000022656
symbol: OTC
gene_biotype: protein_coding
description:
  Ornithine carbamoyltransferase; Belongs to the aspartate/ornithine carbamoyltransferase superfamily.


ensembl_gene_id: ENSPPYP00000022663
symbol: ATP6AP2
gene_biotype: protein_coding
description:
  Renin receptor extracellular fragment; Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the proton- transporting vacuolar (V)-ATPase protein pump. May mediate renin- dependent cellular responses by activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin system (RAS) (By similarity). Probably by controlling the assembly of the V- ATPase pump and thus the acidification of the endo-lysosomal system, plays a  [...]


ensembl_gene_id: ENSPPYP00000022666
symbol: MED14
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 14; 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: ENSPPYP00000022671
symbol: DDX3X
gene_biotype: protein_coding
description:
  ATP-dependent RNA helicase DDX3Y; Probable ATP-dependent RNA helicase. May play a role in spermatogenesis (By similarity); Belongs to the DEAD box helicase family. DDX3/DED1 subfamily.


ensembl_gene_id: ENSPPYP00000022677
symbol: MAOA
gene_biotype: protein_coding
description:
  Amine oxidase [flavin-containing] A; Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOA preferentially oxidizes biogenic amines such as 5-hydroxytryptamine (5-HT), norepinephrine and epinephrine (By similarity).


ensembl_gene_id: ENSPPYP00000022680
symbol: MAOB
gene_biotype: protein_coding
description:
  Amine oxidase [flavin-containing] B; Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOB preferentially degrades benzylamine and phenylethylamine (By similarity).


ensembl_gene_id: ENSPPYP00000022686
symbol: DUSP21
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 21; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPPYP00000022697
symbol: RP2
gene_biotype: protein_coding
description:
  Protein XRP2; Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization.


ensembl_gene_id: ENSPPYP00000022700
symbol: RGN
gene_biotype: protein_coding
description:
  Regucalcin; Gluconolactonase with low activity towards other sugar lactones, including gulonolactone and galactonolactone. Can also hydrolyze diisopropyl phosphorofluoridate and phenylacetate (in vitro). Calcium-binding protein. Modulates Ca(2+) signaling, and Ca(2+)- dependent cellular processes and enzyme activities (By similarity).


ensembl_gene_id: ENSPPYP00000022717
symbol: TIMP1
gene_biotype: protein_coding
description:
  Metalloproteinase inhibitor 1; Metalloproteinase inhibitor that functions by forming one to one complexes with target metalloproteinases, such as collagenases, and irreversibly inactivates them by binding to their catalytic zinc cofactor. Acts on MMP1, MMP2, MMP3, MMP7, MMP8, MMP9, MMP10, MMP11, MMP12, MMP13 and MMP16. Does not act on MMP14. Also functions as a growth factor that regulates cell differentiation, migration and cell death and activates cellular signaling cascades via CD63 and ITGB1. Plays a role in integrin signaling (By similarity).


ensembl_gene_id: ENSPPYP00000022718
symbol: CFP
gene_biotype: protein_coding
description:
  Properdin; A positive regulator of the alternate pathway of complement (By similarity). It binds to and stabilizes the C3- and C5-convertase enzyme complexes (By similarity). Inhibits CFI-CFH mediated degradation of Inhibits CFI-CFH mediated degradation of Complement C3 beta chain (C3b) (By similarity).


ensembl_gene_id: ENSPPYP00000022723
symbol: ZNF182
gene_biotype: protein_coding
description:
  Zinc finger protein 182; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000022743
symbol: SUV39H1
gene_biotype: protein_coding
description:
  Histone-lysine N-methyltransferase SUV39H1; Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys-9' as substrate. H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 'Lys-9' trimethylation is also required to direct DNA methylation at pericentric re [...]


ensembl_gene_id: ENSPPYP00000022791
symbol: GSPT2
gene_biotype: protein_coding
description:
  Eukaryotic peptide chain release factor GTP-binding subunit ERF3B; Involved in translation termination in response to the termination codons UAA, UAG and UGA. May play a role as a potent stimulator of the release factor activity of ETF1. Exhibits GTPase activity, which is ribosome- and ETF1-dependent. May play a role in cell cycle progression. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons (By similarity).


ensembl_gene_id: ENSPPYP00000022819
symbol: MAGED2
gene_biotype: protein_coding
description:
  Melanoma-associated antigen D2; Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule.


ensembl_gene_id: ENSPPYP00000022824
symbol: ALAS2
gene_biotype: protein_coding
description:
  5-aminolevulinate synthase, erythroid-specific, mitochondrial; Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSPPYP00000022836
symbol: NBDY
gene_biotype: protein_coding
description:
  Negative regulator of P-body association; Promotes dispersal of P-body components and is likely to play a role in the mRNA decapping process.


ensembl_gene_id: ENSPPYP00000022839
symbol: SPIN2B
gene_biotype: protein_coding
description:
  Spindlin-2; May be involved in the regulation of cell cycle progression. Exhibits H3K4me3-binding activity.


ensembl_gene_id: ENSPPYP00000022845
symbol: ARHGEF9
gene_biotype: protein_coding
description:
  Rho guanine nucleotide exchange factor 9; Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity).


ensembl_gene_id: ENSPPYP00000022896
symbol: NONO
gene_biotype: protein_coding
description:
  Non-POU domain-containing octamer-binding protein; DNA- and RNA binding protein, involved in several nuclear processes. Binds the conventional octamer sequence in double-stranded DNA. Also binds single-stranded DNA and RNA at a site independent of the duplex site. Involved in pre-mRNA splicing, probably as a heterodimer with SFPQ. Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3' side of U5 snRNA stem 1b. Together with PSPC1, required for the formation of nuclear paraspeckles. The SFPQ-NONO heteromer associated with MATR3 may play a role in nuclea [...]


ensembl_gene_id: ENSPPYP00000022939
symbol: MAGT1
gene_biotype: protein_coding
description:
  Magnesium transporter protein 1; Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with TUSC3. In its oxidized form proposed to form transient mixed disulf [...]


ensembl_gene_id: ENSPPYP00000022941
symbol: COX7B
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 7B, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane [...]


ensembl_gene_id: ENSPPYP00000022944
symbol: PGK1
gene_biotype: protein_coding
description:
  Phosphoglycerate kinase 1; Catalyzes one of the two ATP producing reactions in the glycolytic pathway via the reversible conversion of 1,3- diphosphoglycerate to 3-phosphoglycerate. In addition to its role as a glycolytic enzyme, it seems that PGK-1 acts as a polymerase alpha cofactor protein (primer recognition protein). May play a role in sperm motility.


ensembl_gene_id: ENSPPYP00000022945
symbol: TAF9B
gene_biotype: protein_coding
description:
  Transcription initiation factor TFIID subunit 9B; Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription (By similarity).


ensembl_gene_id: ENSPPYP00000022963
symbol: APOOL
gene_biotype: protein_coding
description:
  MICOS complex subunit MIC27; 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. Specifically binds to cardiolipin (in vitro) but not to the precursor lipid phosphatidylglycerol. Plays a crucial role in crista junction formation and mitochondrial function.


ensembl_gene_id: ENSPPYP00000022966
symbol: POF1B
gene_biotype: protein_coding
description:
  Protein POF1B; Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development (By similarity).


ensembl_gene_id: ENSPPYP00000022968
symbol: CHM
gene_biotype: protein_coding
description:
  Rab proteins geranylgeranyltransferase component A; Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane.


ensembl_gene_id: ENSPPYP00000022995
symbol: CSTF2
gene_biotype: protein_coding
description:
  Cleavage stimulation factor subunit 2; One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. This subunit is directly involved in the binding to pre-mRNAs (By similarity).


ensembl_gene_id: ENSPPYP00000023000
symbol: TRMT2B
gene_biotype: protein_coding
description:
  tRNA (uracil(54)-C(5))-methyltransferase homolog; Probable S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyl-uridine at position 54 (m5U54) in all tRNA. May also have a role in tRNA stabilization or maturation (By similarity); Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA M5U methyltransferase family.


ensembl_gene_id: ENSPPYP00000023008
symbol: HNRNPH2
gene_biotype: protein_coding
description:
  Heterogeneous nuclear ribonucleoprotein H2, N-terminally processed; This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG) (By similarity).


ensembl_gene_id: ENSPPYP00000023011
symbol: ARMCX1
gene_biotype: protein_coding
description:
  Armadillo repeat-containing X-linked protein 1; Regulates mitochondrial transport during axon regeneration. Increases the proportion of motile mitochondria by recruiting stationary mitochondria into the motile pool. Enhances mitochondria movement and neurite growth in both adult axons and embryonic neurons. Promotes neuronal survival and axon regeneration after nerve injury. May link mitochondria to the Trak1-kinesin motor complex via its interaction with MIRO1.


ensembl_gene_id: ENSPPYP00000023013
symbol: ARMCX3
gene_biotype: protein_coding
description:
  Armadillo repeat-containing X-linked protein 3; Regulates mitochondrial aggregation and transport in axons in living neurons. May link mitochondria to the TRAK2-kinesin motor complex via its interaction with Miro and TRAK2. Mitochondrial distribution and dynamics is regulated through ARMCX3 protein degradation, which is promoted by PCK and negatively regulated by WNT1. Enhances the SOX10-mediated transactivation of the neuronal acetylcholine receptor subunit alpha-3 and beta-4 subunit gene promoters.


ensembl_gene_id: ENSPPYP00000023023
symbol: ARMCX5
gene_biotype: protein_coding
description:
  Armadillo repeat-containing X-linked protein 5; Belongs to the eutherian X-chromosome-specific Armcx family.


ensembl_gene_id: ENSPPYP00000023025
symbol: GPRASP2
gene_biotype: protein_coding
description:
  G-protein coupled receptor-associated sorting protein 2; May play a role in regulation of a variety of G-protein coupled receptors; Belongs to the GPRASP family.


ensembl_gene_id: ENSPPYP00000023031
symbol: BEX4
gene_biotype: protein_coding
description:
  Protein BEX4; May play a role in microtubule deacetylation by negatively regulating the SIRT2 deacetylase activity toward alpha-tubulin and thereby participate to the control of cell cycle progression and genomic stability; Belongs to the BEX family.


ensembl_gene_id: ENSPPYP00000023040
symbol: TCEAL4
gene_biotype: protein_coding
description:
  Transcription elongation factor A protein-like 4; May be involved in transcriptional regulation; Belongs to the TFS-II family. TFA subfamily.


ensembl_gene_id: ENSPPYP00000023042
symbol: MORF4L2
gene_biotype: protein_coding
description:
  Mortality factor 4-like protein 2; Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone 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 replicative [...]


ensembl_gene_id: ENSPPYP00000023045
symbol: PLP1
gene_biotype: protein_coding
description:
  Myelin proteolipid protein; This is the major myelin protein from the central nervous system. It plays an important role in the formation or maintenance of the multilamellar structure of myelin (By similarity).


ensembl_gene_id: ENSPPYP00000023047
symbol: RAB9B
gene_biotype: protein_coding
description:
  Ras-related protein Rab-9B; Involved in the transport of proteins between the endosomes and the trans Golgi network.


ensembl_gene_id: ENSPPYP00000023062
symbol: RNF128
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RNF128; E3 ubiquitin-protein ligase that catalyzes 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains formation. Functions as an inhibitor of cytokine gene transcription. Inhibits IL2 and IL4 transcription, thereby playing an important role in the induction of the anergic phenotype, a long-term stable state of T-lymphocyte unresponsiveness to antigenic stimulation associated with the blockade of interleukin production. Ubiquitinates ARPC5 with 'Lys-48' linkages and COR1A with 'Lys-63' linkages leading to their degradation, down- regulation of these cytoslele [...]


ensembl_gene_id: ENSPPYP00000023072
symbol: PRPS1
gene_biotype: protein_coding
description:
  Ribose-phosphate pyrophosphokinase 1; Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis; Belongs to the ribose-phosphate pyrophosphokinase family.


ensembl_gene_id: ENSPPYP00000023081
symbol: ATG4A
gene_biotype: protein_coding
description:
  Cysteine protease ATG4A; Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Cleaves the C-terminal amino acid of ATG8 family proteins to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Preferred substrate is GABARAPL2 followed by MAP1LC3A and GABARAP. Has also an activity of delipidating enzyme for the PE-conjugated forms (By similarity).


ensembl_gene_id: ENSPPYP00000023097
symbol: RPSA
gene_biotype: protein_coding
description:
  40S ribosomal protein SA; Required for the assembly and/or stability of the 40S ribosomal subunit. Required for the processing of the 20S rRNA- precursor to mature 18S rRNA in a late step of the maturation of 40S ribosomal subunits. Also functions as a cell surface receptor for laminin. Plays a role in cell adhesion to the basement membrane and in the consequent activation of signaling transduction pathways. May play a role in cell fate determination and tissue morphogenesis. Also acts as a receptor for several other ligands, including the pathogenic prion protein, viruses, and bacteri [...]


ensembl_gene_id: ENSPPYP00000023104
symbol: TRPC5
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily C member 5; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPPYP00000023136
symbol: SLC25A5
gene_biotype: protein_coding
description:
  ADP/ATP translocase 2, N-terminally processed; Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation (By similarity).


ensembl_gene_id: ENSPPYP00000023140
symbol: SEPTIN6
gene_biotype: protein_coding
description:
  SEPT6 isoform 5; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPPYP00000023169
symbol: SH2D1A
gene_biotype: protein_coding
description:
  SH2 domain-containing protein 1A; Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2.


ensembl_gene_id: ENSPPYP00000023183
symbol: ZDHHC9
gene_biotype: protein_coding
description:
  Palmitoyltransferase ZDHHC9; The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS.


ensembl_gene_id: ENSPPYP00000023206
symbol: GPC3
gene_biotype: protein_coding
description:
  GPC3 isoform 1; Cell surface proteoglycan that bears heparan sulfate. Belongs to the glypican family.


ensembl_gene_id: ENSPPYP00000023210
symbol: PHF6
gene_biotype: protein_coding
description:
  PHD finger protein 6; Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.


ensembl_gene_id: ENSPPYP00000023216
symbol: MOSPD1
gene_biotype: protein_coding
description:
  Motile sperm domain-containing protein 1; Plays a role in differentiation and/or proliferation of mesenchymal stem cells. Proposed to be involved in epithelial-to- mesenchymal transition (EMT). However, another study suggests that it is not required for EMT or stem cell self-renewal and acts during later stages of differentiation.


ensembl_gene_id: ENSPPYP00000023249
symbol: HTATSF1
gene_biotype: protein_coding
description:
  HIV Tat-specific factor 1 homolog; Functions as a general transcription factor playing a role in the process of transcriptional elongation. May mediate the reciprocal stimulatory effect of splicing on transcriptional elongation (By similarity); Belongs to the HTATSF1 family.


ensembl_gene_id: ENSPPYP00000023252
symbol: CD40LG
gene_biotype: protein_coding
description:
  CD40 ligand; Cytokine that acts as a ligand to CD40/TNFRSF5. Costimulates T-cell proliferation and cytokine production. Involved in immunoglobulin class switching.


ensembl_gene_id: ENSPPYP00000023260
symbol: FGF13
gene_biotype: protein_coding
description:
  Fibroblast growth factor 13; Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules (By similarity). Through its action on microtubules, may participate to the refinement of axons by negatively regulating axonal and leading processes branching (By similarity). Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus (By similarity). May regulate voltage-gated sodium channels transport and function (By similarity). May also play a role in MAPK signaling (By similarity). [...]


ensembl_gene_id: ENSPPYP00000023279
symbol: FMR1
gene_biotype: protein_coding
description:
  Synaptic functional regulator FMR1; Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic local protein synthesis of a subset of mRNAs. Plays a role in the alternative splicing of its own mRNA. Plays a role in mRNA nuclear export. Together with export factor NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons. Stabilizes the scaffolding postsynaptic density protein DLG4/PSD-95 [...]


ensembl_gene_id: ENSPPYP00000023299
symbol: MTM1
gene_biotype: protein_coding
description:
  Myotubularin; Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not fo [...]


ensembl_gene_id: ENSPPYP00000023305
symbol: VMA21
gene_biotype: protein_coding
description:
  Vacuolar ATPase assembly integral membrane protein VMA21; Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum.


ensembl_gene_id: ENSPPYP00000023311
symbol: GABRE
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor epsilon subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPPYP00000023312
symbol: GABRA3
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor alpha3 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPPYP00000023313
symbol: GABRQ
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor theta subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPPYP00000023328
symbol: BGN
gene_biotype: protein_coding
description:
  Biglycan; May be involved in collagen fiber assembly. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily.


ensembl_gene_id: ENSPPYP00000023334
symbol: BCAP31
gene_biotype: protein_coding
description:
  B-cell receptor-associated protein 31; Functions as a chaperone protein. Is one of the most abundant endoplasmic reticulum (ER) proteins. Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD). Also serves as a cargo receptor for the export of transmembrane proteins. May be involved in CASP8-mediated apoptosis (By similarity). Belongs to the BCAP29/BCAP31 family.


ensembl_gene_id: ENSPPYP00000023341
symbol: SSR4
gene_biotype: protein_coding
description:
  Translocon-associated protein subunit delta; 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: ENSPPYP00000023347
symbol: CR201_G0049912
gene_biotype: protein_coding
description:
  Vasopressin V2 receptor; Involved in renal water reabsorption. Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase; Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.


ensembl_gene_id: ENSPPYP00000023354
symbol: MECP2
gene_biotype: protein_coding
description:
  Methyl-CpG-binding protein 2; Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC).


ensembl_gene_id: ENSPPYP00000023363
symbol: RPL10
gene_biotype: protein_coding
description:
  60S ribosomal protein L10; Component of the large ribosomal subunit. Plays a role in the formation of actively translating ribosomes. May play a role in the embryonic brain development.


ensembl_gene_id: ENSPPYP00000023371
symbol: GDI1
gene_biotype: protein_coding
description:
  Rab GDP dissociation inhibitor; Regulates the GDP/GTP exchange reaction of most RAB proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP; Belongs to the Rab GDI family.


ensembl_gene_id: ENSPPYP00000023375
symbol: UBL4A
gene_biotype: protein_coding
description:
  Ubiquitin-like protein 4A; As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches- containing proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation. The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthe [...]


ensembl_gene_id: ENSPPYP00000023380
symbol: G6PD
gene_biotype: protein_coding
description:
  Glucose-6-phosphate 1-dehydrogenase; Catalyzes the rate-limiting step of the oxidative pentose- phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis.


ensembl_gene_id: ENSPPYP00000023388
symbol: MPP1
gene_biotype: protein_coding
description:
  55 kDa erythrocyte membrane protein; Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity). Belongs to the MAGUK family.


ensembl_gene_id: ENSPPYP00000023399
symbol: BRCC3
gene_biotype: protein_coding
description:
  Lys-63-specific deubiquitinase BRCC36; Metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Does not have activity toward 'Lys-48'-linked polyubiquitin chains. Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). In the BRCA1-A complex, it specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX, antagonizing the RNF8-dependent ubiquitination at double- [...]


ensembl_gene_id: ENSPPYP00000023400
symbol: VBP1
gene_biotype: protein_coding
description:
  Prefoldin subunit 3; 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 (By similarity).


ensembl_gene_id: ENSPPYP00000023405
symbol: VAMP7
gene_biotype: protein_coding
description:
  Vesicle-associated membrane protein 7; Involved in the targeting and/or fusion of transport vesicles to their target membrane during transport of proteins from the early endosome to the lysosome. Required for heterotypic fusion of late endosomes with lysosomes and homotypic lysosomal fusion. Required for calcium regulated lysosomal exocytosis. Involved in the export of chylomicrons from the endoplasmic reticulum to the cis Golgi. Required for exocytosis of mediators during eosinophil and neutrophil degranulation, and target cell killing by natural killer cells. Required for focal exocy [...]


ensembl_gene_id: ENSPPYP00000023439
symbol: ND1
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 1; 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: ENSPPYP00000023440
symbol: MT-ND2
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 2; 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: ENSPPYP00000023441
symbol: COX1
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 1; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and t [...]


ensembl_gene_id: ENSPPYP00000023442
symbol: COX2
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 2; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and t [...]


ensembl_gene_id: ENSPPYP00000023443
symbol: ATP8
gene_biotype: protein_coding
description:
  ATP synthase protein 8; 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 central stalk subuni [...]


ensembl_gene_id: ENSPPYP00000023444
symbol: ATP6
gene_biotype: protein_coding
description:
  ATP synthase subunit a; 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 central stalk subuni [...]


ensembl_gene_id: ENSPPYP00000023445
symbol: COX3
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 3; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and t [...]


ensembl_gene_id: ENSPPYP00000023446
symbol: MT-ND3
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 3; 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: ENSPPYP00000023447
symbol: ND4L
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 4L; 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: ENSPPYP00000023448
symbol: ND4
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 4; 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: ENSPPYP00000023449
symbol: ND5
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 5; 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: ENSPPYP00000023450
symbol: ND6
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 6; 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: ENSPPYP00000023451
symbol: CYTB
gene_biotype: protein_coding
description:
  Cytochrome b; Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.


ensembl_gene_id: ENSPPYP00000023457
symbol: CCT6A
gene_biotype: protein_coding
description:
  T-complex protein 1 subunit zeta; Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. Known to play a role, in vitro, in the folding of actin and tubulin (By similarity).


ensembl_gene_id: ENSPPYP00000023466
symbol: LOC100450040
gene_biotype: protein_coding
description:
  Cytochrome b-c1 complex subunit 6; This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1. Belongs to the UQCRH/QCR6 family.


ensembl_gene_id: ENSPPYP00000023473
symbol: PFDN4
gene_biotype: protein_coding
description:
  Prefoldin subunit 4; 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; Belongs to the prefoldin subunit beta family.


ensembl_gene_id: ENSPPYP00000023483
symbol: HSP90B1
gene_biotype: protein_coding
description:
  Endoplasmin; Molecular chaperone that functions in the processing and transport of secreted proteins. When associated with CNPY3, required for proper folding of Toll-like receptors. Functions in endoplasmic reticulum associated degradation (ERAD). Has ATPase activity. Belongs to the heat shock protein 90 family.


ensembl_gene_id: ENSPPYP00000023486
symbol: EIF3K
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit K; 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: ENSPPYP00000023498
symbol: RPS3A
gene_biotype: protein_coding
description:
  40S ribosomal protein S3a; May play a role during erythropoiesis through regulation of transcription factor DDIT3.


ensembl_gene_id: ENSPPYP00000023503
symbol: SNRPD1
gene_biotype: protein_coding
description:
  Small nuclear ribonucleoprotein Sm D1; 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. May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions through non-specific electrostatic contacts with RNA.


ensembl_gene_id: ENSPPYP00000023516
symbol: ENY2
gene_biotype: protein_coding
description:
  Transcription and mRNA export factor ENY2; Involved in mRNA export coupled transcription activation by association with both the TREX-2 and the SAGA complexes. The transcription regulatory histone acetylation (HAT) complex SAGA is a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates to a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for trans [...]


ensembl_gene_id: ENSPPYP00000023523
symbol: TKT
gene_biotype: protein_coding
description:
  Transketolase; Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate.


ensembl_gene_id: ENSPPYP00000023549
symbol: SELENOP
gene_biotype: protein_coding
description:
  Selenoprotein P; Might be responsible for some of the extracellular antioxidant defense properties of selenium or might be involved in the transport of selenium. May supply selenium to tissues such as brain and testis (By similarity).


ensembl_gene_id: ENSPPYP00000023578
symbol: TSC22D3
gene_biotype: protein_coding
description:
  TSC22 domain family protein 3; Protects T-cells from IL2 deprivation-induced apoptosis through the inhibition of FOXO3A transcriptional activity that leads to the down-regulation of the pro-apoptotic factor BCL2L11. In macrophages, plays a role in the anti-inflammatory and immunosuppressive effects of glucocorticoids and IL10. In T-cells, inhibits anti-CD3-induced NFKB1 nuclear translocation. In vitro, suppresses AP1 and NFKB1 DNA-binding activities. Inhibits myogenic differentiation and mediates anti-myogenic effects of glucocorticoids by binding and regulating MYOD1 and HDAC1 transcr [...]


ensembl_gene_id: ENSPPYP00000023609
symbol: ACLY
gene_biotype: protein_coding
description:
  ATP-citrate synthase; Catalyzes the cleavage of citrate into oxaloacetate and acetyl-CoA, the latter serving as common substrate for de novo cholesterol and fatty acid synthesis; In the N-terminal section; belongs to the succinate/malate CoA ligase beta subunit family.


ensembl_gene_id: ENSPPYP00000023634
symbol: VSNL1
gene_biotype: protein_coding
description:
  Visinin-like protein 1; Regulates (in vitro) the inhibition of rhodopsin phosphorylation in a calcium-dependent manner; Belongs to the recoverin family.


ensembl_gene_id: ENSPPYP00000023643
symbol: SNRPC
gene_biotype: protein_coding
description:
  U1 small nuclear ribonucleoprotein C; Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. SNRPC/U1-C is directly involved in initial 5' splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5' splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA. Stimulates commitment or early (E) complex formation by stabilizing the base pairing of the 5' end of the U1 snRNA and the 5' splice-site region. Belongs to the U1 [...]


ensembl_gene_id: ENSPPYP00000023647
symbol: CSE1L
gene_biotype: protein_coding
description:
  Exportin-2; Export receptor for importin-alpha. Mediates importin-alpha re-export from the nucleus to the cytoplasm after import substrates (cargos) have been released into the nucleoplasm. In the nucleus binds cooperatively to importin-alpha 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 releas [...]


ensembl_gene_id: ENSPPYP00000023684
symbol: EIF2A
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 2A; Functions in the early steps of protein synthesis of a small number of specific mRNAs. Acts by directing the binding of methionyl- tRNAi to 40S ribosomal subunits. In contrast to the eIF-2 complex, it binds methionyl-tRNAi to 40S subunits in a codon-dependent manner, whereas the eIF-2 complex binds methionyl-tRNAi to 40S subunits in a GTP-dependent manner.


ensembl_gene_id: ENSPPYP00000023691
symbol: ILK
gene_biotype: protein_coding
description:
  Integrin-linked protein kinase; Receptor-proximal protein kinase regulating integrin-mediated signal transduction. May act as a mediator of inside-out integrin signaling. Focal adhesion protein part of the complex ILK-PINCH. This complex is considered to be one of the convergence points of integrin- and growth factor-signaling pathway. Could be implicated in mediating cell architecture, adhesion to integrin substrates and anchorage-dependent growth in epithelial cells. Phosphorylates beta-1 and beta-3 integrin subunit on serine and threonine residues, but also AKT1 and GSK3B.


ensembl_gene_id: ENSPPYP00000023693
symbol: PAFAH1B2
gene_biotype: protein_coding
description:
  Platelet-activating factor acetylhydrolase IB subunit beta; Inactivates PAF by removing the acetyl group at the sn-2 position. This is a catalytic subunit (By similarity); Belongs to the 'GDSL' lipolytic enzyme family. Platelet- activating factor acetylhydrolase IB beta/gamma subunits subfamily.


ensembl_gene_id: ENSPPYP00000023711
symbol: COQ2
gene_biotype: protein_coding
description:
  4-hydroxybenzoate polyprenyltransferase, mitochondrial; Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB, generating the first membrane-bound Q intermediate.


ensembl_gene_id: ENSPPYP00000023716
symbol: ALDH3A2
gene_biotype: protein_coding
description:
  Aldehyde dehydrogenase family 3 member A2; Catalyzes the oxidation of medium and long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid.


ensembl_gene_id: ENSPPYP00000023723
symbol: ATP6V0E1
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit e 1; Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.


ensembl_gene_id: ENSPPYP00000023730
symbol: FAM126B
gene_biotype: protein_coding
description:
  Protein FAM126B; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane.


ensembl_gene_id: ENSPPYP00000023731
symbol: SIRT2
gene_biotype: protein_coding
description:
  NAD-dependent protein deacetylase sirtuin-2; NAD-dependent protein deacetylase, which deacetylates internal lysines on histone and alpha-tubulin as well as many other proteins such as key transcription factors. Participates in the modulation of multiple and diverse biological processes such as cell cycle control, genomic integrity, microtubule dynamics, cell differentiation, metabolic networks, and autophagy. Plays a major role in the control of cell cycle progression and genomic stability. Functions in the antephase checkpoint preventing precocious mitotic entry in response to microtu [...]


ensembl_gene_id: ENSPPYP00000023752
symbol: EZH1
gene_biotype: protein_coding
description:
  Histone-lysine N-methyltransferase EZH1; Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Required for embryonic stem cell derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to EZH2-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase a [...]


ensembl_gene_id: ENSPPYP00000023806
symbol: NQO2
gene_biotype: protein_coding
description:
  Ribosyldihydronicotinamide dehydrogenase [quinone]; The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinones involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis.


ensembl_gene_id: ENSPPYP00000023832
symbol: PPIL4
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.


ensembl_gene_id: ENSPPYP00000023859
symbol: EPS8L2
gene_biotype: protein_coding
description:
  Epidermal growth factor receptor kinase substrate 8-like protein 2; Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton (By similarity). In the cochlea, is required for stereocilia maintenance in adult hair cells (By similarity).


ensembl_gene_id: ENSPPYP00000023868
symbol: NSUN2
gene_biotype: protein_coding
description:
  NSUN2 isoform 7; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPPYP00000023872
symbol: ANAPC16
gene_biotype: protein_coding
description:
  Anaphase-promoting complex subunit 16; 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); Belongs to the APC16 family.


ensembl_gene_id: ENSPPYP00000023924
symbol: PPAT
gene_biotype: protein_coding
description:
  Amidophosphoribosyltransferase; In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.


ensembl_gene_id: ENSPPYP00000023941
symbol: ORMDL3
gene_biotype: protein_coding
description:
  ORM1-like protein 3; Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated Ca(+2) signaling (By similarity).


ensembl_gene_id: ENSPPYP00000023949
symbol: HSD17B10
gene_biotype: protein_coding
description:
  Hydroxysteroid 17-beta dehydrogenase 10; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPPYP00000023985
symbol: CLCN5
gene_biotype: protein_coding
description:
  H(+)/Cl(-) exchange transporter 5; Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function (By similarity).


ensembl_gene_id: ENSPPYP00000023997
symbol: LOXL2
gene_biotype: protein_coding
description:
  Lysyl oxidase homolog 2; Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine). Acts as a transcription corepressor and specifically mediates deamination of trimethylated 'Lys-4' of histone H3 (H3K4me3), a specific tag for epigenetic transcriptional activation. Shows no activity against histone H3 when it is trimethylated on 'Lys- 9' (H3K9me3) or 'Lys-27' (H3K27me3) or when 'Lys-4' is monomethylated (H3K4me1) or dimethylated (H3K4me2). Also mediates deamination of methylated TAF10, a member o [...]


ensembl_gene_id: ENSPPYP00000024073
symbol: ITGB1BP1
gene_biotype: protein_coding
description:
  Integrin beta-1-binding protein 1; Key regulator of the integrin-mediated cell-matrix interaction signaling by binding to the ITGB1 cytoplasmic tail and preventing the activation of integrin alpha-5/beta-1 (heterodimer of ITGA5 and ITGB1) by talin or FERMT1. Plays a role in cell proliferation, differentiation, spreading, adhesion and migration in the context of mineralization and bone development and angiogenesis. Stimulates cellular proliferation in a fibronectin-dependent manner. Involved in the regulation of beta-1 integrin-containing focal adhesion (FA) site dynamics by controlling [...]


ensembl_gene_id: ENSPPYP00000024077
symbol: SSRP1
gene_biotype: protein_coding
description:
  FACT complex subunit SSRP1; Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment o [...]


ensembl_gene_id: ENSPPYP00000024125
symbol: PRDX2
gene_biotype: protein_coding
description:
  Peroxiredoxin-2; 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 and as sensor of hydrogen peroxide-mediated signaling events. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2); Belongs to the peroxiredoxin family. AhpC/Prx1 subfamily.


ensembl_gene_id: ENSPPYP00000024153
symbol: LRP6
gene_biotype: protein_coding
description:
  Low-density lipoprotein receptor-related protein; Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Belongs to the LDLR family.


ensembl_gene_id: ENSPPYP00000024194
symbol: ITM2C
gene_biotype: protein_coding
description:
  Integral membrane protein 2C; Negative regulator of amyloid-beta peptide production. May inhibit the processing of APP by blocking its access to alpha- and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and neuronal differentiation (By similarity).


ensembl_gene_id: ENSPPYP00000024199
symbol: SRP19
gene_biotype: protein_coding
description:
  Signal recognition particle 19 kDa protein; Signal-recognition-particle assembly, binds directly to 7S RNA and mediates binding of the 54 kDa subunit of the SRP.


ensembl_gene_id: ENSPPYP00000024216
symbol: ACSL3
gene_biotype: protein_coding
description:
  Long-chain-fatty-acid--CoA ligase 3; Acyl-CoA synthetases (ACSL) activates long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta- oxidation (By similarity). ACSL3 is required for the incorporation of fatty acids into phosphatidylcholine, the major phospholipid located on the surface of VLDL (very low density lipoproteins) (By similarity). Has mainly an anabolic role in energy metabolism. Mediates hepatic lipogenesis. Preferentially uses myristate, laurate, arachidonate and eicosapentaenoate as substrates. Both isoforms exhibit the same level of activity [...]


ensembl_gene_id: ENSPPYP00000024226
symbol: RAMAC
gene_biotype: protein_coding
description:
  RNA guanine-N7 methyltransferase activating subunit; Regulatory subunit of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs. Promotes the recruitment of the methyl donor, S-adenosyl-L-methionine, to RNMT. Regulates RNMT expression by a post-transcriptional stabilizing mechanism. Binds RNA.


ensembl_gene_id: ENSPPYP00000024234
symbol: PACC1
gene_biotype: protein_coding
description:
  Proton-activated chloride channel; Proton-activated chloride channel that mediates import of chloride ion in response to extracellular acidic pH. Involved in acidosis-induced cell death by mediating chloride influx and subsequent cell swelling.


ensembl_gene_id: ENSPPYP00000024248
symbol: KIAA1191
gene_biotype: protein_coding
description:
  Putative monooxygenase p33MONOX; Potential NADPH-dependent oxidoreductase. May be involved in the regulation of neuronal survival, differentiation and axonal outgrowth (By similarity).


ensembl_gene_id: ENSPPYP00000024266
symbol: ECHDC1
gene_biotype: protein_coding
description:
  Ethylmalonyl-CoA decarboxylase; Decarboxylates ethylmalonyl-CoA, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading. Also has methylmalonyl-CoA decarboxylase activity at lower level; Belongs to the enoyl-CoA hydratase/isomerase family.


ensembl_gene_id: ENSPPYP00000024284
symbol: RAB8B
gene_biotype: protein_coding
description:
  Ras-related protein Rab-8B; 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 sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may be involved in polarized vesicular trafficking and neurotransmitter release. May participate in cell junction dynamics in Sertoli cells (By similarity).


ensembl_gene_id: ENSPPYP00000024289
symbol: CCDC124
gene_biotype: protein_coding
description:
  Coiled-coil domain-containing protein 124; Required for proper progression of late cytokinetic stages.


ensembl_gene_id: ENSPPYP00000024294
symbol: MIEF1
gene_biotype: protein_coding
description:
  Mitochondrial dynamics protein MID51; Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assem [...]


ensembl_gene_id: ENSPPYP00000024310
symbol: NDUFS4
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, 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: ENSPPYP00000024315
symbol: SGCE
gene_biotype: protein_coding
description:
  Epsilon-sarcoglycan; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.


ensembl_gene_id: ENSPPYP00000024352
symbol: TMED10
gene_biotype: protein_coding
description:
  Transmembrane emp24 domain-containing protein 10; Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act together with TMED2 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the COPII vesicle coat and lipid raft [...]


ensembl_gene_id: ENSPPYP00000024362
symbol: ZNF271
gene_biotype: protein_coding
description:
  Zinc finger protein 271; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000024408
symbol: BHMT2
gene_biotype: protein_coding
description:
  S-methylmethionine--homocysteine S-methyltransferase BHMT2; Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline (By similarity).


ensembl_gene_id: ENSPPYP00000024413
symbol: EIF5
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 5; Catalyzes the hydrolysis of GTP bound to the 40S ribosomal initiation complex (40S.mRNA.Met-tRNA[F].eIF-2.GTP) with the subsequent joining of a 60S ribosomal subunit resulting in the release of eIF-2 and the guanine nucleotide. The subsequent joining of a 60S ribosomal subunit results in the formation of a functional 80S initiation complex (80S.mRNA.Met-tRNA[F]) (By similarity); Belongs to the eIF-2-beta/eIF-5 family.


ensembl_gene_id: ENSPPYP00000024423
symbol: TRPC1
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily C member 1; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPPYP00000024435
symbol: EIF1
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 1; Necessary for scanning and involved in initiation site selection. Promotes the assembly of 48S ribosomal complexes at the authentic initiation codon of a conventional capped mRNA (By similarity); Belongs to the SUI1 family.


ensembl_gene_id: ENSPPYP00000024436
symbol: PARL
gene_biotype: protein_coding
description:
  Presenilins-associated rhomboid-like protein, mitochondrial; Required for the control of apoptosis during postnatal growth. Essential for proteolytic processing of an antiapoptotic form of OPA1 which prevents the release of mitochondrial cytochrome c in response to intrinsic apoptotic signals (By similarity). Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mitochondrial-processing peptidase (MPP). Promotes changes in mitochondria morphology regulated by phosphorylation of P-beta domain (By similarity).


ensembl_gene_id: ENSPPYP00000024446
symbol: RARRES2
gene_biotype: protein_coding
description:
  Retinoic acid receptor responder protein 2; Adipocyte-secreted protein (adipokine) that regulates adipogenesis, metabolism and inflammation through activation of the chemokine-like receptor 1 (CMKLR1). Its other ligands include G protein-coupled receptor 1 (GPR1) and chemokine receptor-like 2 (CCRL2). Positively regulates adipocyte differentiation, modulates the expression of adipocyte genes involved in lipid and glucose metabolism and might play a role in angiogenesis, a process essential for the expansion of white adipose tissue. Also acts as a proinflammatory adipokine, causing an i [...]


ensembl_gene_id: ENSPPYP00000024472
symbol: CSTF1
gene_biotype: protein_coding
description:
  Cleavage stimulation factor subunit 1; One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs (By similarity). May be responsible for the interaction of CSTF with other factors to form a stable complex on the pre-mRNA (By similarity).


ensembl_gene_id: ENSPPYP00000024478
symbol: SEPT1
gene_biotype: protein_coding
description:
  SEPT1 isoform 1; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPPYP00000024509
symbol: TMEM63A
gene_biotype: protein_coding
description:
  CSC1-like protein 1; Acts as an osmosensitive calcium-permeable cation channel (By similarity). Mechanosensitive ion channel that converts mechanical stimuli into a flow of ion (By similarity). Belongs to the CSC1 (TC 1.A.17) family.


ensembl_gene_id: ENSPPYP00000024526
symbol: CAT
gene_biotype: protein_coding
description:
  Catalase; Occurs in almost all aerobically respiring organisms and serves to protect cells from the toxic effects of hydrogen peroxide. Promotes growth of cells; Belongs to the catalase family.


ensembl_gene_id: ENSPPYP00000024548
symbol: LSM8
gene_biotype: protein_coding
description:
  U6 snRNA-associated Sm-like protein LSm8; 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). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA.


ensembl_gene_id: ENSPPYP00000024593
symbol: FGF1
gene_biotype: protein_coding
description:
  Fibroblast growth factor 1; Plays an important role in the regulation of cell survival, cell division, angiogenesis, cell differentiation and cell migration. Functions as potent mitogen in vitro. Acts as a ligand for FGFR1 and integrins. Binds to FGFR1 in the presence of heparin leading to FGFR1 dimerization and activation via sequential autophosphorylation on tyrosine residues which act as docking sites for interacting proteins, leading to the activation of several signaling cascades. Binds to integrin ITGAV:ITGB3. Its binding to integrin, subsequent ternary complex formation with int [...]


ensembl_gene_id: ENSPPYP00000024595
symbol: KDR
gene_biotype: protein_coding
description:
  Kinase insert domain receptor; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSPPYP00000024596
symbol: ALDOA
gene_biotype: protein_coding
description:
  Fructose-bisphosphate aldolase A; Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity). Belongs to the class I fructose-bisphosphate aldolase family.


ensembl_gene_id: ENSPPYP00000024624
symbol: SRSF1
gene_biotype: protein_coding
description:
  Serine/arginine-rich splicing factor 1; Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5'-splice site- containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5'-RGAAGAAC-3' (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5'-CGAGGCG-3' motif in vitro. Three copies of the octame [...]


ensembl_gene_id: ENSPPYP00000024633
symbol: FLOT1
gene_biotype: protein_coding
description:
  Flotillin-1; May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles.


ensembl_gene_id: ENSPPYP00000024686
symbol: MVK
gene_biotype: protein_coding
description:
  Mevalonate kinase; Catalyzes the phosphorylation of mevalonate to mevalonate 5- phosphate, a key step in isoprenoid and cholesterol biosynthesis. Belongs to the GHMP kinase family. Mevalonate kinase subfamily.


ensembl_gene_id: ENSPPYP00000024698
symbol: SNX2
gene_biotype: protein_coding
description:
  Sorting nexin-2; 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: ENSPPYP00000024703
symbol: PLG
gene_biotype: protein_coding
description:
  Plasmin heavy chain A, short form; Plasmin dissolves the fibrin of blood clots and acts as a proteolytic factor in a variety of other processes including embryonic development, tissue remodeling, tumor invasion, and inflammation. In ovulation, weakens the walls of the Graafian follicle. It activates the urokinase-type plasminogen activator, collagenases and several complement zymogens, such as C1 and C5. Cleavage of fibronectin and laminin leads to cell detachment and apoptosis. Also cleaves fibrin, thrombospondin and von Willebrand factor. Its role in tissue remodeling and tumor invas [...]


ensembl_gene_id: ENSPPYP00000024709
symbol: ELP3
gene_biotype: protein_coding
description:
  Elongator complex protein 3; Catalytic tRNA acetyltransferase subunit of the RNA polymerase II elongator complex, which is a component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation.


ensembl_gene_id: ENSPPYP00000024716
symbol: BABAM2
gene_biotype: protein_coding
description:
  BRISC and BRCA1-A complex member 2; Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'- linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integri [...]


ensembl_gene_id: ENSPPYP00000024726
symbol: MGME1
gene_biotype: protein_coding
description:
  Mitochondrial genome maintenance exonuclease 1; Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA- primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair; Belongs to the MGME1 family.


ensembl_gene_id: ENSPPYP00000024742
symbol: BOP1
gene_biotype: protein_coding
description:
  Ribosome biogenesis protein BOP1; Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.


ensembl_gene_id: ENSPPYP00000024760
symbol: TAOK3
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase TAO3; Serine/threonine-protein kinase that acts as a regulator of the p38/MAPK14 stress-activated MAPK cascade and of the MAPK8/JNK cascade. Acts as an activator of the p38/MAPK14 stress-activated MAPK cascade. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of upstream MAP2K3 and MAP2K6 kinases. Inhibits basal activity of MAPK8/JNK cascade and diminishes its activation in response epidermal growth factor (EGF) (By similarity [...]


