# geneInfo

ensembl_gene_id: ENSPPYP00000007906
symbol: NTHL1
gene_biotype: protein_coding
description:
  Endonuclease III-like protein 1; Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage. The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP lyase activity cleaves the phosphodiester bond 3' to the AP site by a beta-elimination. Primarily recognizes and repairs oxidative base damage of pyrimidines.


ensembl_gene_id: ENSPPYP00000007942
symbol: KREMEN2
gene_biotype: protein_coding
description:
  Kremen protein; Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6.


ensembl_gene_id: ENSPPYP00000007977
symbol: SRL
gene_biotype: protein_coding
description:
  SRL isoform 3; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPPYP00000007981
symbol: CORO7
gene_biotype: protein_coding
description:
  Coronin-7; F-actin regulator involved in anterograde Golgi to endosome transport: upon ubiquitination via 'Lys-33'-linked ubiquitin chains by the BCR(KLHL20) E3 ubiquitin ligase complex, interacts with EPS15 and localizes to the trans-Golgi network, where it promotes actin polymerization, thereby facilitating post-Golgi trafficking. May play a role in the maintenance of the Golgi apparatus morphology (By similarity).


ensembl_gene_id: ENSPPYP00000007995
symbol: SEPTIN12
gene_biotype: protein_coding
description:
  SEPT12 isoform 1; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPPYP00000007997
symbol: GLYR1
gene_biotype: protein_coding
description:
  Putative oxidoreductase GLYR1; Nucleosome-destabilizing factor that is recruited to genes during transcriptional activation. Facilitates Pol II transcription through nucleosomes. Binds DNA (in vitro). Recognizes and binds trimethylated 'Lys-36' of histone H3 (H3K36me3). Promotes KDM1B demethylase activity. Stimulates the acetylation of 'Lys-56' of nucleosomal histone H3 (H3K56ac) by EP300. Regulates p38 MAP kinase activity by mediating stress activation of p38alpha/MAPK14 and specifically regulating MAPK14 signaling. Indirectly promotes phosphorylation of MAPK14 and activation of ATF2. [...]


ensembl_gene_id: ENSPPYP00000008002
symbol: ALG1
gene_biotype: protein_coding
description:
  Chitobiosyldiphosphodolichol beta-mannosyltransferase; Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER (By similarity); Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily.


ensembl_gene_id: ENSPPYP00000008003
symbol: RBFOX1
gene_biotype: protein_coding
description:
  RNA binding protein fox-1 homolog 1; RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Prevents binding of U2AF2 to the 3'-splice site. Regulates alternative splicing of tissue- specific exons and of differentially spliced exons during erythropoiesis (By similarity).


ensembl_gene_id: ENSPPYP00000008011
symbol: PMM2
gene_biotype: protein_coding
description:
  Phosphomannomutase; Involved in the synthesis of the GDP-mannose and dolichol- phosphate-mannose required for a number of critical mannosyl transfer reactions.


ensembl_gene_id: ENSPPYP00000008018
symbol: EMP2
gene_biotype: protein_coding
description:
  Epithelial membrane protein 2; Functions as a key regulator of cell membrane composition by regulating proteins surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion; Belongs to the PMP-22/EMP/MP20 family.


ensembl_gene_id: ENSPPYP00000008020
symbol: NUBP1
gene_biotype: protein_coding
description:
  Cytosolic Fe-S cluster assembly factor NUBP1; Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery. Required for maturation of extramitochondrial Fe-S proteins. The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins. Implicated in the regulation of centrosome duplication; Belongs to the Mrp/NBP35 ATP-binding proteins family. NUBP1/NBP35 subfamily.


ensembl_gene_id: ENSPPYP00000008029
symbol: TNP2
gene_biotype: protein_coding
description:
  Nuclear transition protein 2; Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction.


ensembl_gene_id: ENSPPYP00000008034
symbol: PRM1
gene_biotype: protein_coding
description:
  Sperm protamine P1; Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex.


ensembl_gene_id: ENSPPYP00000008041
symbol: RSL1D1
gene_biotype: protein_coding
description:
  Ribosomal L1 domain-containing protein 1; Regulates cellular senescence through inhibition of PTEN translation. Acts as a pro-apoptotic regulator in response to DNA damage; Belongs to the universal ribosomal protein uL1 family. Highly divergent.


ensembl_gene_id: ENSPPYP00000008049
symbol: CPPED1
gene_biotype: protein_coding
description:
  Serine/threonine-protein phosphatase CPPED1; Protein phosphatase that dephosphorylates AKT family kinase specifically at 'Ser-473', blocking cell cycle progression and promoting cell apoptosis. May play an inhibitory role in glucose uptake by adipocytes (By similarity).


ensembl_gene_id: ENSPPYP00000008052
symbol: PARN
gene_biotype: protein_coding
description:
  Poly(A)-specific ribonuclease PARN; 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. Interacts with both the 3'-end poly(A) tail and the 5'-end cap structure during degradation, the interaction with the cap structure being required for an efficient degradation of poly(A) tails. Involved in nonsens [...]


ensembl_gene_id: ENSPPYP00000008059
symbol: RRN3
gene_biotype: protein_coding
description:
  RNA polymerase I-specific transcription initiation factor RRN3; Required for efficient transcription initiation by RNA polymerase I. Required for the formation of the competent preinitiation complex (PIC). Dissociates from pol I as a consequence of transcription. In vitro, cannot activate transcription in a subsequent transcription reaction (By similarity); Belongs to the RRN3 family.


ensembl_gene_id: ENSPPYP00000008070
symbol: RPS15A
gene_biotype: protein_coding
description:
  40S ribosomal protein S15a; Structural component of the ribosome. Required for proper erythropoiesis; Belongs to the universal ribosomal protein uS8 family.


ensembl_gene_id: ENSPPYP00000008071
symbol: ARL6IP1
gene_biotype: protein_coding
description:
  ADP-ribosylation factor-like protein 6-interacting protein 1; Positively regulates SLC1A1/EAAC1-mediated glutamate transport by increasing its affinity for glutamate in a PKC activity- dependent manner. Promotes the catalytic efficiency of SLC1A1/EAAC1 probably by reducing its interaction with ARL6IP5, a negative regulator of SLC1A1/EAAC1-mediated glutamate transport. Plays a role in the formation and stabilization of endoplasmic reticulum tubules. Negatively regulates apoptosis, possibly by modulating the activity of caspase-9 (CASP9). Inhibits cleavage of CASP9-dependent substrates a [...]


ensembl_gene_id: ENSPPYP00000008074
symbol: COQ7
gene_biotype: protein_coding
description:
  5-demethoxyubiquinone hydroxylase, mitochondrial; Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6- methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis. Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone- independent manner.


ensembl_gene_id: ENSPPYP00000008076
symbol: SYT17
gene_biotype: protein_coding
description:
  Synaptotagmin-17; Plays a role in dendrite formation by melanocytes. Belongs to the synaptotagmin family.


ensembl_gene_id: ENSPPYP00000008083
symbol: VPS35L
gene_biotype: protein_coding
description:
  VPS35 endosomal protein sorting factor-like; Acts as component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes. In the endosomes, drives the retrieval and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numero [...]


ensembl_gene_id: ENSPPYP00000008090
symbol: UMOD
gene_biotype: protein_coding
description:
  Uromodulin, secreted form; [Uromodulin]: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like structure that may play a role in the water barrier permeability. May serve as a receptor for binding and endocytosis of cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelia.


ensembl_gene_id: ENSPPYP00000008096
symbol: ACSM3
gene_biotype: protein_coding
description:
  Acyl-coenzyme A synthetase ACSM3, mitochondrial; Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids with a preference for isobutyrate among fatty acids with 2-6 carbon atoms (By similarity). Belongs to the ATP-dependent AMP-binding enzyme family.


ensembl_gene_id: ENSPPYP00000008101
symbol: DCUN1D3
gene_biotype: protein_coding
description:
  DCN1-like protein 3; Antagonizes DCUN1D1-mediated CUL1 neddylation by sequestering CUL1 at the cell membrane.


ensembl_gene_id: ENSPPYP00000008126
symbol: SCNN1G
gene_biotype: protein_coding
description:
  Sodium channel epithelial 1 gamma subunit; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSPPYP00000008140
symbol: CACNG3
gene_biotype: protein_coding
description:
  Voltage-dependent calcium channel gamma-3 subunit; Regulates the trafficking to the somatodendritic compartment and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state.


ensembl_gene_id: ENSPPYP00000008146
symbol: LCMT1
gene_biotype: protein_coding
description:
  Leucine carboxyl methyltransferase 1; Methylates the carboxyl group of the C-terminal leucine residue of protein phosphatase 2A catalytic subunits to form alpha- leucine ester residues; Belongs to the methyltransferase superfamily. LCMT family.


ensembl_gene_id: ENSPPYP00000008152
symbol: NSMCE1
gene_biotype: protein_coding
description:
  Non-structural maintenance of chromosomes element 1 homolog; RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Within MAGE-RING ubiquitin ligase complex, MAGE stimulates and specifies ubiquitin ligase activity likely through recruitment and/or stabilization of the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. Involved in maintenance of genome integrity, DNA damage response and DNA repair. NSMCE3/MAGEG1 and NSMCE [...]


ensembl_gene_id: ENSPPYP00000008162
symbol: SBK1
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase SBK1; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.


ensembl_gene_id: ENSPPYP00000008167
symbol: RABEP2
gene_biotype: protein_coding
description:
  Rab GTPase-binding effector protein 2; Plays a role in membrane trafficking and in homotypic early endosome fusion. Participates in arteriogenesis by regulating vascular endothelial growth factor receptor 2/VEGFR2 cell surface expression and endosomal trafficking. By interacting with SDCCAG8, localizes to centrosomes and plays a critical role in ciliogenesis.


ensembl_gene_id: ENSPPYP00000008169
symbol: TUFM
gene_biotype: protein_coding
description:
  Elongation factor Tu; This protein promotes the GTP-dependent binding of aminoacyl- tRNA to the A-site of ribosomes during protein biosynthesis.


ensembl_gene_id: ENSPPYP00000008171
symbol: EIF3C
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit C; 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: ENSPPYP00000008184
symbol: MAPK3
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. MAP kinase subfamily.


ensembl_gene_id: ENSPPYP00000008189
symbol: PPP4C
gene_biotype: protein_coding
description:
  Serine/threonine-protein phosphatase 4 catalytic subunit; Protein phosphatase that is involved in many processes such as microtubule organization at centrosomes, maturation of spliceosomal snRNPs, apoptosis, DNA repair, tumor necrosis factor (TNF)-alpha signaling, activation of c-Jun N-terminal kinase MAPK8, regulation of histone acetylation, DNA damage checkpoint signaling, NF-kappa-B activation and cell migration. The PPP4C-PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3. The PPP4C-PPP4R2- PPP4R3A PP4 complex specifically dephosphorylates H2AX phosphor [...]


ensembl_gene_id: ENSPPYP00000008203
symbol: MVP
gene_biotype: protein_coding
description:
  Major vault protein; Required for normal vault structure. Vaults are multi-subunit structures that may act as scaffolds for proteins involved in signal transduction. Vaults may also play a role in nucleo-cytoplasmic transport. Down-regulates IFNG-mediated STAT1 signaling and subsequent activation of JAK. Down-regulates SRC activity and signaling through MAP kinases (By similarity).


ensembl_gene_id: ENSPPYP00000008205
symbol: PRRT2
gene_biotype: protein_coding
description:
  Proline-rich transmembrane protein 2; As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing. In the cerebellum, may inhibit SNARE complex formation and downregulate short-term facilitation.


ensembl_gene_id: ENSPPYP00000008220
symbol: DCTPP1
gene_biotype: protein_coding
description:
  dCTP pyrophosphatase 1; Hydrolyzes deoxynucleoside triphosphates (dNTPs) to the corresponding nucleoside monophosphates. Has a strong preference for dCTP and its analogs including 5-iodo-dCTP and 5-methyl-dCTP for which it may even have a higher efficiency. May protect DNA or RNA against the incorporation of these genotoxic nucleotide analogs through their catabolism.


ensembl_gene_id: ENSPPYP00000008233
symbol: RNF40
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase BRE1B; Component of the RNF20/40 E3 ubiquitin-protein ligase complex that mediates monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation (H3K4me and H3K79me, respectively). It thereby plays a central role in histone code and gene regulation. The RNF20/40 complex forms a H2B ubiquitin ligase complex in cooperation with the E2 enzyme UBE2A or UBE2B; reports about the cooperation with UBE2E1/UBCH are contradic [...]


ensembl_gene_id: ENSPPYP00000008246
symbol: HSD3B7
gene_biotype: protein_coding
description:
  Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7; Belongs to the 3-beta-HSD family.


ensembl_gene_id: ENSPPYP00000008258
symbol: PRSS36
gene_biotype: protein_coding
description:
  Polyserase-2; Serine protease. Has a preference for substrates with an Arg instead of a Lys residue in position P1. Belongs to the peptidase S1 family.


ensembl_gene_id: ENSPPYP00000008274
symbol: PHKB
gene_biotype: protein_coding
description:
  Phosphorylase b kinase regulatory subunit; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. Belongs to the phosphorylase b kinase regulatory chain family.


ensembl_gene_id: ENSPPYP00000008277
symbol: LONP2
gene_biotype: protein_coding
description:
  Lon protease homolog 2, peroxisomal; ATP-dependent serine protease that mediates the selective degradation of misfolded and unassembled polypeptides in the peroxisomal matrix. Necessary for type 2 peroxisome targeting signal (PTS2)-containing protein processing and facilitates peroxisome matrix protein import. May indirectly regulate peroxisomal fatty acid beta- oxidation through degradation of the self-processed forms of TYSND1. Belongs to the peptidase S16 family.


ensembl_gene_id: ENSPPYP00000008284
symbol: CNEP1R1
gene_biotype: protein_coding
description:
  Nuclear envelope phosphatase-regulatory subunit 1; Forms with the serine/threonine protein phosphatase CTDNEP1 an active complex which dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplet [...]


ensembl_gene_id: ENSPPYP00000008289
symbol: BRD7
gene_biotype: protein_coding
description:
  Bromodomain-containing protein 7; Acts both as coactivator and as corepressor. May play a role in chromatin remodeling. Activator of the Wnt signaling pathway in a DVL1-dependent manner by negatively regulating the GSK3B phosphotransferase activity. Induces dephosphorylation of GSK3B at 'Tyr-216'. Down-regulates TRIM24-mediated activation of transcriptional activation by AR. Transcriptional corepressor that down-regulates the expression of target genes. Binds to target promoters, leading to increased histone H3 acetylation at 'Lys-9' (H3K9ac). Binds to the ESR1 promoter. Recruits BRCA1 [...]


ensembl_gene_id: ENSPPYP00000008294
symbol: CYLD
gene_biotype: protein_coding
description:
  Ubiquitin carboxyl-terminal hydrolase CYLD; Deubiquitinase that specifically cleaves 'Lys-63'- and linear 'Met-1'-linked polyubiquitin chains and is involved in NF-kappa-B activation and TNF-alpha-induced necroptosis. Plays an important role in the regulation of pathways leading to NF-kappa-B activation. Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF-kappa-B activation. Negative regulator of Wnt signaling. Inhibits HDAC6 and thereby promotes acetylation of alpha-tubulin and stabilization of microtubules. Plays a role in the regul [...]


ensembl_gene_id: ENSPPYP00000008302
symbol: AKTIP
gene_biotype: protein_coding
description:
  AKT-interacting protein; Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Regulates apoptosis by enhancing phosphorylation and activation of AKT1. Increases release of TNFSF6 via the AKT1/GSK3B/NFATC1 signaling cascade (By similarity).


ensembl_gene_id: ENSPPYP00000008304
symbol: FTO
gene_biotype: protein_coding
description:
  Alpha-ketoglutarate-dependent dioxygenase FTO; RNA demethylase that mediates oxidative demethylation of different RNA species, such as mRNAs, tRNAs and snRNAs, and acts as a regulator of fat mass, adipogenesis and energy homeostasis. Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes. M6A demethylation by FTO affects mRNA expression and stability. Also able to demethylate m6A in U6 small nuclear RNA (snRNA). Mediates demethylation of N(6),2'-O-dimethyladenosine cap (m6A(m)), by demethylating th [...]


ensembl_gene_id: ENSPPYP00000008319
symbol: NUDT21
gene_biotype: protein_coding
description:
  Cleavage and polyadenylation specificity factor subunit 5; Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs. CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation. The  [...]


ensembl_gene_id: ENSPPYP00000008320
symbol: OGFOD1
gene_biotype: protein_coding
description:
  Prolyl 3-hydroxylase OGFOD1; Prolyl 3-hydroxylase that catalyzes 3-hydroxylation of 'Pro- 62' of small ribosomal subunit uS12 (RPS23), thereby regulating protein translation termination efficiency. Involved in stress granule formation; Belongs to the TPA1 family.


ensembl_gene_id: ENSPPYP00000008327
symbol: MT2A
gene_biotype: protein_coding
description:
  Metallothionein-2; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.


ensembl_gene_id: ENSPPYP00000008332
symbol: NUP93
gene_biotype: protein_coding
description:
  Nuclear pore complex protein Nup93; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. May anchor nucleoporins, but not NUP153 and TPR, to the NPC. During renal development, regulates podocyte migration and proliferation through SMAD4 signaling; Belongs to the nucleoporin interacting component (NIC) family.


ensembl_gene_id: ENSPPYP00000008334
symbol: HERPUD1
gene_biotype: protein_coding
description:
  Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein; Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Binds to ubiquilins and this interaction is required for efficient degradation of CD3D via the ERAD pathway.


ensembl_gene_id: ENSPPYP00000008335
symbol: CETP
gene_biotype: protein_coding
description:
  Cholesteryl ester transfer protein; Involved in the transfer of neutral lipids, including cholesteryl ester and triglyceride, among lipoprotein particles. Allows the net movement of cholesteryl ester from high density lipoproteins/HDL to triglyceride-rich very low density lipoproteins/VLDL, and the equimolar transport of triglyceride from VLDL to HDL; Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.


ensembl_gene_id: ENSPPYP00000008341
symbol: ARL2BP
gene_biotype: protein_coding
description:
  ADP-ribosylation factor-like protein 2-binding protein; Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2 (By similarity).


ensembl_gene_id: ENSPPYP00000008347
symbol: CIAPIN1
gene_biotype: protein_coding
description:
  Anamorsin; 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, facilitating the de novo assembly of a [4Fe-4S] cluster on the scaffold complex NUBP1-NUBP2. Electrons are transferred to CIAPIN1 from NADPH via the FAD- and FMN-containing protein NDOR1. NDOR1-CIAPIN1 are also required for the assembly of the diferric tyrosyl radical cofactor of ribonucleotide reductase (RNR), probably by providing electron [...]


ensembl_gene_id: ENSPPYP00000008348
symbol: COQ9
gene_biotype: protein_coding
description:
  Ubiquinone biosynthesis protein; Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration.


ensembl_gene_id: ENSPPYP00000008351
symbol: DOK4
gene_biotype: protein_coding
description:
  Docking protein 4; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK4 functions in RET-mediated neurite outgrowth and plays a positive role in activation of the MAP kinase pathway (By similarity). Putative link with downstream effectors of RET in neuronal differentiation. May be involved in the regulation of the immune response induced by T-cells (By similarity).


ensembl_gene_id: ENSPPYP00000008359
symbol: KATNB1
gene_biotype: protein_coding
description:
  Katanin p80 WD40 repeat-containing subunit B1; Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. 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. Micr [...]


ensembl_gene_id: ENSPPYP00000008364
symbol: USB1
gene_biotype: protein_coding
description:
  U6 snRNA phosphodiesterase; Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate; Belongs to the 2H phosphoesterase superfamily. USB1 family.


ensembl_gene_id: ENSPPYP00000008370
symbol: GINS3
gene_biotype: protein_coding
description:
  DNA replication complex GINS protein PSF3; The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single-stranded DNA (By similarity).


ensembl_gene_id: ENSPPYP00000008373
symbol: SETD6
gene_biotype: protein_coding
description:
  N-lysine methyltransferase SETD6; Protein-lysine N-methyltransferase. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SETD6 subfamily.


ensembl_gene_id: ENSPPYP00000008376
symbol: SLC38A7
gene_biotype: protein_coding
description:
  Putative sodium-coupled neutral amino acid transporter 7; Mediates sodium-dependent transport of amino acids, preferentially L-glutamine; Belongs to the amino acid/polyamine transporter 2 family.


ensembl_gene_id: ENSPPYP00000008377
symbol: GOT2
gene_biotype: protein_coding
description:
  Aspartate aminotransferase, mitochondrial; Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Plays a key role in amino acid metabolism. Important for metabolite exchange between mitochondria and cytosol. Facilitates cellular uptake of long-chain free fatty acids (By similarity).


ensembl_gene_id: ENSPPYP00000008390
symbol: DYNC1LI2
gene_biotype: protein_coding
description:
  Cytoplasmic dynein 1 light intermediate chain 2; 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. May play a role in binding dynein to membranous organelles or chromosomes.


ensembl_gene_id: ENSPPYP00000008392
symbol: NAE1
gene_biotype: protein_coding
description:
  NEDD8-activating enzyme E1 regulatory subunit; Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Belongs to the ubiquitin-activating E1 family. ULA1 subfamily.


ensembl_gene_id: ENSPPYP00000008401
symbol: CES3
gene_biotype: protein_coding
description:
  Carboxylesterase 3; Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs; Belongs to the type-B carboxylesterase/lipase family.


ensembl_gene_id: ENSPPYP00000008426
symbol: ATP6V0D1
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit d 1; 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. May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium (By similarity). In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the acti [...]


ensembl_gene_id: ENSPPYP00000008439
symbol: NUTF2
gene_biotype: protein_coding
description:
  Nuclear transport factor 2; Mediates the import of GDP-bound RAN from the cytoplasm into the nucleus which is essential for the function of RAN in cargo receptor-mediated nucleocytoplasmic transport. Thereby, plays indirectly a more general role in cargo receptor-mediated nucleocytoplasmic transport. Interacts with GDP-bound RAN in the cytosol, recruits it to the nuclear pore complex via its interaction with nucleoporins and promotes its nuclear import.


ensembl_gene_id: ENSPPYP00000008457
symbol: PRMT7
gene_biotype: protein_coding
description:
  Protein arginine N-methyltransferase; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Specifically mediates the symmetric dimethylation of histone H4 'Arg-3' to form H4R3me2s. Plays a role in gene imprinting by being r [...]


ensembl_gene_id: ENSPPYP00000008469
symbol: PDF
gene_biotype: protein_coding
description:
  Peptide deformylase; Removes the formyl group from the N-terminal Met of newly synthesized proteins; Belongs to the polypeptide deformylase family.


ensembl_gene_id: ENSPPYP00000008471
symbol: NIP7
gene_biotype: protein_coding
description:
  60S ribosome subunit biogenesis protein NIP7 homolog; Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly.


ensembl_gene_id: ENSPPYP00000008474
symbol: CYB5B
gene_biotype: protein_coding
description:
  Cytochrome b5 type B; Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.


ensembl_gene_id: ENSPPYP00000008478
symbol: NQO1
gene_biotype: protein_coding
description:
  NAD(P)H dehydrogenase [quinone] 1; The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinons involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis; Belongs to the NAD(P)H dehydrogenase (quinone) family.


ensembl_gene_id: ENSPPYP00000008479
symbol: NOB1
gene_biotype: protein_coding
description:
  RNA-binding protein NOB1; May play a role in mRNA degradation (By similarity). Endonuclease required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits (By similarity).


ensembl_gene_id: ENSPPYP00000008491
symbol: HP
gene_biotype: protein_coding
description:
  Haptoglobin alpha chain; As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine. Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to prevent kidney damage. Haptoglobin also acts as an antioxidant, has antibacterial activity and plays a role in modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are rapidly cleared by the macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells through an endocytic lysosomal degradation pat [...]


ensembl_gene_id: ENSPPYP00000008492
symbol: DHODH
gene_biotype: protein_coding
description:
  Dihydroorotate dehydrogenase (quinone), mitochondrial; Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.


ensembl_gene_id: ENSPPYP00000008494
symbol: IST1
gene_biotype: protein_coding
description:
  IST1 homolog; ESCRT-III-like protein involved in specific functions of the ESCRT machinery. Is required for efficient abscission during cytokinesis, but not for HIV-1 budding. The involvement in the MVB pathway is not established. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. During late anaphase, involved in nuclear envelope reassembly and mitotic spindle disassembly together with the ESCRT-III complex: IST1 acts by mediating the recruitment of SPAST to the nuclear membrane, leading to microtubule severing. Regulates early endosomal tubulation together wi [...]


ensembl_gene_id: ENSPPYP00000008496
symbol: AP1G1
gene_biotype: protein_coding
description:
  AP-1 complex subunit gamma-1; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules (By similarity).


ensembl_gene_id: ENSPPYP00000008501
symbol: TAT
gene_biotype: protein_coding
description:
  Tyrosine aminotransferase; Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate.


ensembl_gene_id: ENSPPYP00000008503
symbol: ZNF19
gene_biotype: protein_coding
description:
  Zinc finger protein 19; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000008505
symbol: CMTR2
gene_biotype: protein_coding
description:
  Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2; S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap2 2'-O-ribose methylation to the 5'-cap structure of mRNAs. Methylates the ribose of the second nucleotide of a m(7)GpppG- capped mRNA and small nuclear RNA (snRNA) (cap0) to produce m(7)GpppRmpNm (cap2). Recognizes a guanosine cap on RNA independently of its N(7) methylation status. Display cap2 methylation on both cap0 and cap1. Displays a preference for cap1 RNAs.


ensembl_gene_id: ENSPPYP00000008511
symbol: SF3B3
gene_biotype: protein_coding
description:
  Splicing factor 3B subunit 3; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex, a constituent of the spliceosome. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. Belongs also to the minor U12- dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mR [...]


ensembl_gene_id: ENSPPYP00000008512
symbol: COG4
gene_biotype: protein_coding
description:
  Conserved oligomeric Golgi complex subunit 4; Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1.


ensembl_gene_id: ENSPPYP00000008517
symbol: AARS1
gene_biotype: protein_coding
description:
  Alanine--tRNA ligase, cytoplasmic; 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.


ensembl_gene_id: ENSPPYP00000008525
symbol: FA2H
gene_biotype: protein_coding
description:
  Fatty acid 2-hydroxylase; Catalyzes stereospecific hydroxylation of free fatty acids at the C-2 position to produce (R)-2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis. Plays an essential role in the synthesis of galactosphingolipids of the myelin sheath. Responsible for the synthesis of sphingolipids and glycosphingolipids involved in the formation of epidermal lamellar bodies critical for skin permeability barrier. Participates in the synthesis of glycosphingolipids and a fraction of type II wax diesters i [...]


ensembl_gene_id: ENSPPYP00000008529
symbol: ZFP1
gene_biotype: protein_coding
description:
  Zinc finger protein 1 homolog; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000008537
symbol: TMEM231
gene_biotype: protein_coding
description:
  Transmembrane protein 231; Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).


ensembl_gene_id: ENSPPYP00000008550
symbol: WWOX
gene_biotype: protein_coding
description:
  WW domain-containing oxidoreductase; Putative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. May function synergistically with p53/TP53 to control genotoxic stress-induced cell death. Plays a role in TGFB1 signaling and TGFB1-mediated cell death. May also play a role in tumor necrosis factor (TNF)-mediated cell death. Required for normal bone development. Inhibits Wnt signaling, probably by sequestering DVL2 in the cytoplasm (By similarity); Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPPYP00000008554
symbol: DYNLRB2
gene_biotype: protein_coding
description:
  Dynein light chain roadblock; 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.


ensembl_gene_id: ENSPPYP00000008560
symbol: GCSH
gene_biotype: protein_coding
description:
  Glycine cleavage system H protein; The H protein shuttles the methylamine group of glycine from the P protein to the T protein; Belongs to the GcvH family.


ensembl_gene_id: ENSPPYP00000008564
symbol: PLCG2
gene_biotype: protein_coding
description:
  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma; Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades.


ensembl_gene_id: ENSPPYP00000008566
symbol: HSD17B2
gene_biotype: protein_coding
description:
  Hydroxysteroid 17-beta dehydrogenase 2; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPPYP00000008568
symbol: CDH13
gene_biotype: protein_coding
description:
  Cadherin-13; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. May act as a negative regulator of neural cell growth (By similarity).


ensembl_gene_id: ENSPPYP00000008575
symbol: HSDL1
gene_biotype: protein_coding
description:
  Inactive hydroxysteroid dehydrogenase-like protein 1; Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.


ensembl_gene_id: ENSPPYP00000008607
symbol: JPH3
gene_biotype: protein_coding
description:
  Junctophilin; Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels.


ensembl_gene_id: ENSPPYP00000008619
symbol: CR201_G0048368
gene_biotype: protein_coding
description:
  Diphosphomevalonate decarboxylase; Performs the first committed step in the biosynthesis of isoprenes.


ensembl_gene_id: ENSPPYP00000008623
symbol: CTU2
gene_biotype: protein_coding
description:
  Cytoplasmic tRNA 2-thiolation protein 2; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with CTU1/ATPBD3 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position. Belongs to the CTU2/NCS2 family.


ensembl_gene_id: ENSPPYP00000008629
symbol: TRAPPC2L
gene_biotype: protein_coding
description:
  Trafficking protein particle complex subunit 2-like protein; May play a role in vesicular transport from endoplasmic reticulum to Golgi.


ensembl_gene_id: ENSPPYP00000008644
symbol: CHMP1A
gene_biotype: protein_coding
description:
  Charged multivesicular body protein 1a; 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: ENSPPYP00000008675
symbol: HSBP1
gene_biotype: protein_coding
description:
  Heat shock factor-binding protein 1; Negative regulator of the heat shock response. Negatively affects HSF1 DNA-binding activity. May have a role in the suppression of the activation of the stress response during the aging process (By similarity).


ensembl_gene_id: ENSPPYP00000008681
symbol: KIF22
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF22; Kinesin family member that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA. Plays a role in congression of laterally attached chromosomes in NDC80-depleted cells. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPPYP00000008704
symbol: COX6A2
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 6A2, 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 transmembran [...]


ensembl_gene_id: ENSPPYP00000008706
symbol: TGFB1I1
gene_biotype: protein_coding
description:
  Transforming growth factor beta-1-induced transcript 1 protein; Functions as a molecular adapter coordinating multiple protein-protein interactions at the focal adhesion complex and in the nucleus. Links various intracellular signaling modules to plasma membrane receptors and regulates the Wnt and TGFB signaling pathways.


ensembl_gene_id: ENSPPYP00000008714
symbol: MYLK3
gene_biotype: protein_coding
description:
  Myosin light chain kinase 3; Kinase that phosphorylates MYL2 in vitro. Promotes sarcomere formation in cardiomyocytes and increases cardiomyocyte contractility (By similarity); Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.


ensembl_gene_id: ENSPPYP00000008741
symbol: VPS53
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 53 homolog; Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD. Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4- positive endosomes and promotes recycling of internalized t [...]


ensembl_gene_id: ENSPPYP00000008753
symbol: YWHAE
gene_biotype: protein_coding
description:
  Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon; Belongs to the 14-3-3 family.


ensembl_gene_id: ENSPPYP00000008759
symbol: SLC43A2
gene_biotype: protein_coding
description:
  Large neutral amino acids transporter small subunit 4; Sodium-, chloride, pH-independent high affinity transport of large neutral amino acids.


ensembl_gene_id: ENSPPYP00000008770
symbol: SMYD4
gene_biotype: protein_coding
description:
  SET and MYND domain-containing protein 4; Belongs to the class V-like SAM-binding methyltransferase superfamily.


ensembl_gene_id: ENSPPYP00000008776
symbol: SMG6
gene_biotype: protein_coding
description:
  Telomerase-binding protein EST1A; Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. May have a general role in telomere regulation. Promotes in vitro the ability of TERT to elongate telomeres. Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization. Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER).


ensembl_gene_id: ENSPPYP00000008779
symbol: TSR1
gene_biotype: protein_coding
description:
  Pre-rRNA-processing protein TSR1 homolog; Required during maturation of the 40S ribosomal subunit in the nucleolus; Belongs to the TRAFAC class translation factor GTPase superfamily. Bms1-like GTPase family. TSR1 subfamily.


ensembl_gene_id: ENSPPYP00000008782
symbol: METTL16
gene_biotype: protein_coding
description:
  U6 small nuclear RNA (adenine-(43)-N(6))-methyltransferase; RNA N6-methyltransferase that methylates adenosine residues of a subset of RNAs and plays a key role in S-adenosyl-L-methionine homeostasis by regulating expression of MAT2A transcripts. Able to N6- methylate a subset of mRNAs and U6 small nuclear RNAs (U6 snRNAs). In contrast to the METTL3-METTL14 heterodimer, only able to methylate a limited number of RNAs: requires both a 5'UACAGAGAA-3' nonamer sequence and a specific RNA structure. In presence of S-adenosyl-L-methionine, binds the 3'-UTR region of MAT2A mRNA and specifical [...]


ensembl_gene_id: ENSPPYP00000008783
symbol: PAFAH1B1
gene_biotype: protein_coding
description:
  Platelet-activating factor acetylhydrolase IB subunit alpha; Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ven [...]


ensembl_gene_id: ENSPPYP00000008784
symbol: CLUH
gene_biotype: protein_coding
description:
  Clustered mitochondria protein homolog; mRNA-binding protein involved in proper cytoplasmic distribution of mitochondria. Specifically binds mRNAs of nuclear- encoded mitochondrial proteins in the cytoplasm and regulates transport or translation of these transcripts close to mitochondria, playing a role in mitochondrial biogenesis; Belongs to the CLU family.


ensembl_gene_id: ENSPPYP00000008799
symbol: ASPA
gene_biotype: protein_coding
description:
  Aspartoacylase; Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintenance of intact white matter. In other tissues it act as a scavenger of NAA from body fluids (By similarity).


ensembl_gene_id: ENSPPYP00000008804
symbol: TAX1BP3
gene_biotype: protein_coding
description:
  Tax1-binding protein 3; May regulate a number of protein-protein interactions by competing for PDZ domain binding sites.


ensembl_gene_id: ENSPPYP00000008824
symbol: ALOX15
gene_biotype: protein_coding
description:
  Arachidonate 15-lipoxygenase; Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Converts arachidonic acid into 12-hydroperoxyeicosatetraenoic acid/12- HPETE and 15-hydroperoxyeicosatetraenoic acid/15-HPETE. Also converts linoleic acid to 13-hydroperoxyoctadecadienoic acid. May also act on (12S)-hydroperoxyeicosatetraenoic acid/(12S)-HPETE to produce hepoxilin A3. Probably plays an important role in the immune and inflammatory responses. Through the o [...]


ensembl_gene_id: ENSPPYP00000008826
symbol: ARRB2
gene_biotype: protein_coding
description:
  Beta-arrestin-2; Functions in regulating agonist-mediated G-protein coupled receptor (GPCR) signaling by mediating both receptor desensitization and resensitization processes. During homologous desensitization, beta- arrestins bind to the GPRK-phosphorylated receptor and sterically preclude its coupling to the cognate G-protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation. The beta-arrestins target many receptors for internalization by acting as endocytic adapters (CLASPs, clathrin- associated sorting proteins) and re [...]


ensembl_gene_id: ENSPPYP00000008827
symbol: MED11
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 11; 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: ENSPPYP00000008861
symbol: DERL2
gene_biotype: protein_coding
description:
  Derlin-2; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and misfolded glycoproteins. May also be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the  [...]


ensembl_gene_id: ENSPPYP00000008862
symbol: MIS12
gene_biotype: protein_coding
description:
  Protein MIS12 homolog; Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for kinetochore formation during mitosis. Essential for proper kinetochore microtubule attachments.


ensembl_gene_id: ENSPPYP00000008869
symbol: TXNDC17
gene_biotype: protein_coding
description:
  Thioredoxin domain-containing protein 17; Disulfide reductase. May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. Modulates TNF-alpha signaling and NF-kappa-B activation. Has peroxidase activity and may contribute to the elimination of cellular hydrogen peroxide (By similarity); Belongs to the thioredoxin family.


ensembl_gene_id: ENSPPYP00000008884
symbol: ASGR1
gene_biotype: protein_coding
description:
  Asialoglycoprotein receptor 1; Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N- acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface (By similarity).


ensembl_gene_id: ENSPPYP00000008889
symbol: GABARAP
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor-associated protein-like 1; Ubiquitin-like modifier that increases cell-surface expression of kappa-type opioid receptor through facilitating anterograde intracellular trafficking of the receptor. Involved in formation of autophagosomal vacuoles. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (By similarity); Belongs to the ATG8 family.


ensembl_gene_id: ENSPPYP00000008893
symbol: SLC2A4
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 4; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPPYP00000008901
symbol: PLSCR3
gene_biotype: protein_coding
description:
  Phospholipid scramblase; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. Belongs to the phospholipid scramblase family.


ensembl_gene_id: ENSPPYP00000008913
symbol: EIF4A1
gene_biotype: protein_coding
description:
  Eukaryotic initiation factor 4A-I; ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon (By similarity).


ensembl_gene_id: ENSPPYP00000008923
symbol: TP53
gene_biotype: protein_coding
description:
  Cellular tumor antigen p53; Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression; Belongs to the p53 family.


ensembl_gene_id: ENSPPYP00000008942
symbol: CTC1
gene_biotype: protein_coding
description:
  CST complex subunit CTC1; Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation. However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST comp [...]


ensembl_gene_id: ENSPPYP00000008952
symbol: NDEL1
gene_biotype: protein_coding
description:
  Nuclear distribution protein nudE-like 1; Required for organization of the cellular microtubule array and microtubule anchoring at the centrosome. May regulate microtubule organization at least in part by targeting the microtubule severing protein KATNA1 to the centrosome. Also positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus ends. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the centripe [...]


ensembl_gene_id: ENSPPYP00000008953
symbol: MYH10
gene_biotype: protein_coding
description:
  Myosin heavy chain 10; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSPPYP00000008995
symbol: COX10
gene_biotype: protein_coding
description:
  Protoheme IX farnesyltransferase, mitochondrial; Converts protoheme IX and farnesyl diphosphate to heme O.


ensembl_gene_id: ENSPPYP00000009005
symbol: TRIM16
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase TRIM16; E3 ubiquitin ligase that plays an essential role in the organization of autophagic response and ubiquitination upon lysosomal and phagosomal damages. Plays a role in the stress-induced biogenesis and degradation of protein aggresomes by regulating the p62-KEAP1-NRF2 signaling and particularly by modulating the ubiquitination levels and thus stability of NRF2. Acts as a scaffold protein and facilitates autophagic degradation of protein aggregates by interacting with p62/SQSTM, ATG16L1 and LC3B/MAP1LC3B. In turn, protects the cell against oxidative str [...]


ensembl_gene_id: ENSPPYP00000009008
symbol: ADORA2B
gene_biotype: protein_coding
description:
  Adenosine receptor A2; Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPPYP00000009016
symbol: TRPV2
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily V member 2; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPPYP00000009030
symbol: COPS3
gene_biotype: protein_coding
description:
  COP9 signalosome complex subunit 3; 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/ICSBP, possibly via its association [...]


ensembl_gene_id: ENSPPYP00000009032
symbol: MED9
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 9; 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: ENSPPYP00000009034
symbol: PEMT
gene_biotype: protein_coding
description:
  Phosphatidylethanolamine N-methyltransferase; Catalyzes the three sequential steps of the methylation pathway of phosphatidylcholine biosynthesis, the SAM-dependent methylation of phosphatidylethanolamine (PE) to phosphatidylmonomethylethanolamine (PMME), PMME to phosphatidyldimethylethanolamine (PDME), and PDME to phosphatidylcholine (PC); Belongs to the class VI-like SAM-binding methyltransferase superfamily. PEMT/PEM2 methyltransferase family.


ensembl_gene_id: ENSPPYP00000009052
symbol: MIEF2
gene_biotype: protein_coding
description:
  Mitochondrial dynamics protein MID49; Mitochondrial outer membrane protein which regulates mitochondrial organization (By similarity). It is required for mitochondrial fission and 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 (By similarity). Regulates DNM1L GTPase activity (By similarity); Belongs to the MID49/MID51 family.


ensembl_gene_id: ENSPPYP00000009055
symbol: CR201_G0050730
gene_biotype: protein_coding
description:
  DNA topoisomerase; Introduces a single-strand break via transesterification at a target site in duplex DNA. Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. Belongs to the type IA topoisomerase family.


ensembl_gene_id: ENSPPYP00000009060
symbol: PRPSAP2
gene_biotype: protein_coding
description:
  Phosphoribosyl pyrophosphate synthase-associated protein 2; Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis; Belongs to the ribose-phosphate pyrophosphokinase family.


ensembl_gene_id: ENSPPYP00000009093
symbol: TMEM97
gene_biotype: protein_coding
description:
  Transmembrane protein 97; Intracellular orphan receptor that binds numerous drugs and which is highly expressed in various proliferating cells. Corresponds to the sigma-2 receptor, which is thought to play important role in regulating cell survival, morphology and differentiation. May play a role as a regulator of cellular cholesterol homeostasis. May function as sterol isomerase. May alter the activity of some cytochrome P450 proteins.


ensembl_gene_id: ENSPPYP00000009095
symbol: TNFAIP1
gene_biotype: protein_coding
description:
  BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in regulation of cytoskeleton structure. The BCR(TNFAIP1) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome, thereby regulating the actin cytoskeleton and cell migration. Its interaction with RHOB may regulate apoptosis. May enhance the PCNA- dependent DNA polymerase delta activity (By similarity).


ensembl_gene_id: ENSPPYP00000009097
symbol: TMEM199
gene_biotype: protein_coding
description:
  Transmembrane protein 199; In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (By similarity). May be involved in Golgi homeostasis (By similarity).


ensembl_gene_id: ENSPPYP00000009113
symbol: SUPT6H
gene_biotype: protein_coding
description:
  Transcription elongation factor spt6; Transcription elongation factor that enhances transcription elongation by RNA polymerase II (RNAPII). Belongs to the SPT6 family.


ensembl_gene_id: ENSPPYP00000009145
symbol: GOSR1
gene_biotype: protein_coding
description:
  Golgi SNAP receptor complex member 1; Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide-sensitive factor) attachment protein receptor. May play a protective role against hydrogen peroxide induced cytotoxicity under glutathione depleted conditions in neuronal cells by regulating the intracellular ROS levels via inhibition of p38 MAPK (MAPK11, MAPK12, MAPK13 and MAPK14). Participates in docking and fusion stage of ER to cis-Golgi transport. Plays an import [...]


ensembl_gene_id: ENSPPYP00000009173
symbol: ZNF207
gene_biotype: protein_coding
description:
  BUB3-interacting and GLEBS motif-containing protein ZNF207; Kinetochore- and microtubule-binding protein that plays a key role in spindle assembly. ZNF207/BuGZ is mainly composed of disordered low-complexity regions and undergoes phase transition or coacervation to form temperature-dependent liquid droplets. Coacervation promotes microtubule bundling and concentrates tubulin, promoting microtubule polymerization and assembly of spindle and spindle matrix by concentrating its building blocks. Also acts as a regulator of mitotic chromosome alignment by mediating the stability and kinetoc [...]


ensembl_gene_id: ENSPPYP00000009183
symbol: CCL2
gene_biotype: protein_coding
description:
  C-C motif chemokine 2; Acts as a ligand for C-C chemokine receptor CCR2 (By similarity). Signals through binding and activation of CCR2 and induces a strong chemotactic response and mobilization of intracellular calcium ions (By similarity). Exhibits a chemotactic activity for monocytes and basophils but not neutrophils or eosinophils (By similarity). Plays an important role in mediating peripheral nerve injury-induced neuropathic pain (By similarity). Increases NMDA-mediated synaptic transmission in both dopamine D1 and D2 receptor-containing neurons, which may be caused by MAPK/ERK-d [...]


ensembl_gene_id: ENSPPYP00000009197
symbol: NLE1
gene_biotype: protein_coding
description:
  Notchless protein homolog 1; Plays a role in regulating Notch activity. Plays a role in regulating the expression of CDKN1A and several members of the Wnt pathway, probably via its effects on Notch activity. Required during embryogenesis for inner mass cell survival (By similarity).


ensembl_gene_id: ENSPPYP00000009205
symbol: PEX12
gene_biotype: protein_coding
description:
  Peroxisome assembly protein 12; Required for protein import into peroxisomes. Belongs to the pex2/pex10/pex12 family.


ensembl_gene_id: ENSPPYP00000009237
symbol: DUSP14
gene_biotype: protein_coding
description:
  DUSP14 isoform 1; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPPYP00000009240
symbol: HNF1B
gene_biotype: protein_coding
description:
  Hepatocyte nuclear factor 1-beta; Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.


ensembl_gene_id: ENSPPYP00000009247
symbol: SEPTIN4-2
gene_biotype: protein_coding
description:
  Septin-4; Filament-forming cytoskeletal GTPase. 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). May play a role in cytokinesis (Potential). May play a role in platelet secretion (By similarity).


ensembl_gene_id: ENSPPYP00000009251
symbol: SUPT4H1
gene_biotype: protein_coding
description:
  Transcription elongation factor SPT4; Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote paus [...]


ensembl_gene_id: ENSPPYP00000009271
symbol: NOG
gene_biotype: protein_coding
description:
  Noggin; Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite.


ensembl_gene_id: ENSPPYP00000009281
symbol: COX11
gene_biotype: protein_coding
description:
  Cytochrome c oxidase assembly protein COX11, mitochondrial; Exerts its effect at some terminal stage of cytochrome c oxidase synthesis, probably by being involved in the insertion of the copper B into subunit I.


ensembl_gene_id: ENSPPYP00000009296
symbol: LUC7L3
gene_biotype: protein_coding
description:
  Luc7-like protein 3; Binds cAMP regulatory element DNA sequence. May play a role in RNA splicing (By similarity).


ensembl_gene_id: ENSPPYP00000009300
symbol: CACNA1G
gene_biotype: protein_coding
description:
  Voltage-dependent T-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. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the low-voltage activated (LVA) group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite ne [...]


ensembl_gene_id: ENSPPYP00000009304
symbol: RSAD1
gene_biotype: protein_coding
description:
  Radical S-adenosyl methionine domain-containing protein; May be a heme chaperone, appears to bind heme. Homologous bacterial proteins do not have oxygen-independent coproporphyrinogen- III oxidase activity. Binds 1 [4Fe-4S] cluster. The cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L- methionine; Belongs to the anaerobic coproporphyrinogen-III oxidase family.


ensembl_gene_id: ENSPPYP00000009305
symbol: ACSF2
gene_biotype: protein_coding
description:
  Medium-chain acyl-CoA ligase ACSF2, mitochondrial; Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA. Has some preference toward medium-chain substrates. Plays a role in adipocyte differentiation; Belongs to the ATP-dependent AMP-binding enzyme family.


ensembl_gene_id: ENSPPYP00000009309
symbol: EME1
gene_biotype: protein_coding
description:
  Crossover junction endonuclease EME1; Interacts with MUS81 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks (By similarity); Belongs to the EME1/MMS4 family.


ensembl_gene_id: ENSPPYP00000009315
symbol: GOSR2
gene_biotype: protein_coding
description:
  T0082108 isoform 1; Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.


ensembl_gene_id: ENSPPYP00000009318
symbol: NSF
gene_biotype: protein_coding
description:
  Vesicle-fusing ATPase; Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity); Belongs to the AAA ATPase family.


ensembl_gene_id: ENSPPYP00000009339
symbol: ACBD4
gene_biotype: protein_coding
description:
  Acyl-CoA-binding domain-containing protein 4; Binds medium- and long-chain acyl-CoA esters and may function as an intracellular carrier of acyl-CoA esters.


ensembl_gene_id: ENSPPYP00000009343
symbol: NMT1
gene_biotype: protein_coding
description:
  Glycylpeptide N-tetradecanoyltransferase 1; Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins.


ensembl_gene_id: ENSPPYP00000009349
symbol: GFAP
gene_biotype: protein_coding
description:
  Glial fibrillary acidic protein; GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells.


ensembl_gene_id: ENSPPYP00000009352
symbol: EFTUD2
gene_biotype: protein_coding
description:
  116 kDa U5 small nuclear ribonucleoprotein component; Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes (By similarity). Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (By similarity).


ensembl_gene_id: ENSPPYP00000009369
symbol: RUNDC3A
gene_biotype: protein_coding
description:
  RUN domain-containing protein 3A; May act as an effector of RAP2A in neuronal cells. Belongs to the RUNDC3 family.


ensembl_gene_id: ENSPPYP00000009379
symbol: HDAC5
gene_biotype: protein_coding
description:
  Histone deacetylase 5; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors (By s [...]


ensembl_gene_id: ENSPPYP00000009390
symbol: DUSP3
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase 3; Shows activity both for tyrosine-protein phosphate and serine-protein phosphate, but displays a strong preference toward phosphotyrosines. Specifically dephosphorylates and inactivates ERK1 and ERK2 (By similarity); Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPPYP00000009396
symbol: ARL4D
gene_biotype: protein_coding
description:
  ADP-ribosylation factor-like protein 4D; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase- activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form (By similarity).


ensembl_gene_id: ENSPPYP00000009400
symbol: NBR1
gene_biotype: protein_coding
description:
  Next to BRCA1 gene 1 protein; Acts probably as a receptor for selective autophagosomal degradation of ubiquitinated targets.


ensembl_gene_id: ENSPPYP00000009402
symbol: BRCA1
gene_biotype: protein_coding
description:
  Breast cancer type 1 susceptibility protein homolog; E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain [...]


ensembl_gene_id: ENSPPYP00000009411
symbol: AOC3
gene_biotype: protein_coding
description:
  Membrane primary amine oxidase; Cell adhesion protein that participates in lymphocyte recirculation by mediating the binding of lymphocytes to peripheral lymph node vascular endothelial cells in an L-selectin-independent fashion. Has a monoamine oxidase activity. May play a role in adipogenesis (By similarity).


ensembl_gene_id: ENSPPYP00000009413
symbol: PSME3
gene_biotype: protein_coding
description:
  Proteasome activator complex subunit 3; Subunit of the 11S REG-gamma (also called PA28-gamma) proteasome regulator, a doughnut-shaped homoheptamer which associates with the proteasome. 11S REG-gamma activates the trypsin-like catalytic subunit of the proteasome but inhibits the chymotrypsin-like and postglutamyl-preferring (PGPH) subunits. Facilitates the MDM2-p53/TP53 interaction which promotes ubiquitination- and MDM2-dependent proteasomal degradation of p53/TP53, limiting its accumulation and resulting in inhibited apoptosis after DNA damage. May also be involved in cell cycle regul [...]


ensembl_gene_id: ENSPPYP00000009414
symbol: BECN1
gene_biotype: protein_coding
description:
  Beclin-1-C 35 kDa; Plays a central role in autophagy. Acts as core subunit of the PI3K complex that mediates formation of phosphatidylinositol 3- phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2. Essential for the formation of PI3KC3-C2 but not PI3KC3-C1 PI3K complex f [...]


ensembl_gene_id: ENSPPYP00000009417
symbol: COA3
gene_biotype: protein_coding
description:
  Cytochrome c oxidase assembly factor 3 homolog, mitochondrial; Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrial respiratory chain complex IV assembly.


ensembl_gene_id: ENSPPYP00000009425
symbol: TUBG2
gene_biotype: protein_coding
description:
  Tubulin gamma chain; Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome.


ensembl_gene_id: ENSPPYP00000009431
symbol: HSD17B1
gene_biotype: protein_coding
description:
  Hydroxysteroid 17-beta dehydrogenase 1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPPYP00000009433
symbol: ATP6V0A1
gene_biotype: protein_coding
description:
  V-type proton ATPase 116 kDa subunit a isoform 1; Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting and regulation of the enzyme for a specific organelle (By similarity).


ensembl_gene_id: ENSPPYP00000009442
symbol: HCRT
gene_biotype: protein_coding
description:
  Orexin; Neuropeptides that play a significant role in the regulation of food intake and sleep-wakefulness, possibly by coordinating the complex behavioral and physiologic responses of these complementary homeostatic functions. A broader role in the homeostatic regulation of energy metabolism, autonomic function, hormonal balance and the regulation of body fluids, is also suggested. Belongs to the orexin family.


ensembl_gene_id: ENSPPYP00000009444
symbol: RAB5C
gene_biotype: protein_coding
description:
  Ras-related protein Rab-5C; Protein transport. Probably involved in vesicular traffic (By similarity); Belongs to the small GTPase superfamily. Rab family.


ensembl_gene_id: ENSPPYP00000009447
symbol: DNAJC7
gene_biotype: protein_coding
description:
  DnaJ homolog subfamily C member 7; Acts as co-chaperone regulating the molecular chaperones HSP70 and HSP90 in folding of steroid receptors, such as the glucocorticoid receptor and the progesterone receptor. Proposed to act as a recycling chaperone by facilitating the return of chaperone substrates to early stages of chaperoning if further folding is required. In vitro, induces ATP-independent dissociation of HSP90 but not of HSP70 from the chaperone-substrate complexes. Recruits NR1I3 to the cytoplasm (By similarity).


ensembl_gene_id: ENSPPYP00000009449
symbol: CNP
gene_biotype: protein_coding
description:
  2',3'-cyclic-nucleotide 3'-phosphodiesterase; May participate in RNA metabolism in the myelinating cell, CNP is the third most abundant protein in central nervous system myelin; Belongs to the 2H phosphoesterase superfamily. CNPase family.


ensembl_gene_id: ENSPPYP00000009462
symbol: KRT19
gene_biotype: protein_coding
description:
  Keratin, type I cytoskeletal 19; Involved in the organization of myofibers. Together with KRT8, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle (By similarity); Belongs to the intermediate filament family.


ensembl_gene_id: ENSPPYP00000009508
symbol: TOP2A
gene_biotype: protein_coding
description:
  DNA topoisomerase 2; Control of topological states of DNA by transient breakage and subsequent rejoining of DNA strands. Topoisomerase II makes double- strand breaks.


ensembl_gene_id: ENSPPYP00000009512
symbol: CDC6
gene_biotype: protein_coding
description:
  Cell division control protein; Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated; Belongs to the CDC6/cdc18 family.


ensembl_gene_id: ENSPPYP00000009528
symbol: PGAP3
gene_biotype: protein_coding
description:
  Post-GPI attachment to proteins factor 3; Involved in the lipid remodeling steps of GPI-anchor maturation; Belongs to the PGAP3 family.


ensembl_gene_id: ENSPPYP00000009539
symbol: MED1
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 1; 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. Acts as a coactivator for [...]


ensembl_gene_id: ENSPPYP00000009551
symbol: LASP1
gene_biotype: protein_coding
description:
  LIM and SH3 domain protein 1; Plays an important role in the regulation of dynamic actin- based, cytoskeletal activities. Agonist-dependent changes in LASP1 phosphorylation may also serve to regulate actin-associated ion transport activities, not only in the parietal cell but also in certain other F-actin-rich secretory epithelial cell types (By similarity).


ensembl_gene_id: ENSPPYP00000009579
symbol: STRADA
gene_biotype: protein_coding
description:
  STE20-related kinase adapter protein alpha; Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation (By similarity); Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.


ensembl_gene_id: ENSPPYP00000009581
symbol: CCDC47
gene_biotype: protein_coding
description:
  Coiled-coil domain-containing protein 47; Involved in the regulation of calcium ion homeostasis in the endoplasmic reticulum (By similarity). Required for proper protein degradation via the ERAD pathway. Has an essential role in the maintenance of endoplasmic reticulum organization during embryogenesis (By similarity).


ensembl_gene_id: ENSPPYP00000009583
symbol: DDX42
gene_biotype: protein_coding
description:
  ATP-dependent RNA helicase DDX42; ATP-dependent RNA helicase. Binds to partially double- stranded RNAs (dsRNAs) in order to unwind RNA secondary structures. Unwinding is promoted in the presence of single-strand binding proteins. Mediates also RNA duplex formation thereby displacing the single-strand RNA binding protein. ATP and ADP modulate its activity: ATP binding and hydrolysis by DDX42 triggers RNA strand separation, whereas the ADP-bound form of the protein triggers annealing of complementary RNA strands. Involved in the survival of cells by interacting with TP53BP2 and thereby c [...]


ensembl_gene_id: ENSPPYP00000009585
symbol: FTSJ3
gene_biotype: protein_coding
description:
  pre-rRNA 2'-O-ribose RNA methyltransferase FTSJ3; RNA 2'-O-methyltransferase involved in the processing of the 34S pre-rRNA to 18S rRNA and in 40S ribosomal subunit formation.


ensembl_gene_id: ENSPPYP00000009602
symbol: DDX5
gene_biotype: protein_coding
description:
  Probable ATP-dependent RNA helicase DDX5; Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre- mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for androgen receptor AR but probably not ESR1. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 t [...]


ensembl_gene_id: ENSPPYP00000009616
symbol: CACNG4
gene_biotype: protein_coding
description:
  Voltage-dependent calcium channel gamma-4 subunit; Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (By similarity). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs), including GRIA1 and GRIA4. Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization; Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.


ensembl_gene_id: ENSPPYP00000009618
symbol: CACNG1
gene_biotype: protein_coding
description:
  Voltage-dependent calcium channel gamma-1 subunit; Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Regulates channel inactivation kinetics.


ensembl_gene_id: ENSPPYP00000009620
symbol: PSMD12
gene_biotype: protein_coding
description:
  26S proteasome non-ATPase regulatory subunit 12; 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; Belongs to the proteasome subunit p55 family.


ensembl_gene_id: ENSPPYP00000009622
symbol: NOL11
gene_biotype: protein_coding
description:
  Nucleolar protein 11; Ribosome biogenesis factor. May be required for both optimal rDNA transcription and small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b (By similarity).


ensembl_gene_id: ENSPPYP00000009627
symbol: AMZ2
gene_biotype: protein_coding
description:
  Archaemetzincin-2; Zinc metalloprotease. Exhibits activity against angiotensin-3 in vitro. Does not hydrolyze neurogranin nor angiotensin-2 (By similarity).


ensembl_gene_id: ENSPPYP00000009675
symbol: ATP5PD
gene_biotype: protein_coding
description:
  ATP synthase subunit d, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the cent [...]


ensembl_gene_id: ENSPPYP00000009685
symbol: SLC25A19
gene_biotype: protein_coding
description:
  Mitochondrial thiamine pyrophosphate carrier; Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria.


ensembl_gene_id: ENSPPYP00000009686
symbol: GRB2
gene_biotype: protein_coding
description:
  Growth factor receptor-bound protein 2; Adapter protein that provides a critical link between cell surface growth factor receptors and the Ras signaling pathway. Belongs to the GRB2/sem-5/DRK family.


ensembl_gene_id: ENSPPYP00000009692
symbol: LLGL2
gene_biotype: protein_coding
description:
  LLGL scribble cell polarity complex component 2; Part of a complex with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par- 6, which may ensure the correct organization and orientation of bipolar spindles for normal cell division. This complex plays roles in the initial phase of the establishment of epithelial cell polarity (By similarity); Belongs to the WD repeat L(2)GL family.


ensembl_gene_id: ENSPPYP00000009704
symbol: MRPL38
gene_biotype: protein_coding
description:
  39S ribosomal protein L38, mitochondrial; Belongs to the phosphatidylethanolamine-binding protein family. Mitochondrion-specific ribosomal protein mL38 subfamily.


ensembl_gene_id: ENSPPYP00000009707
symbol: ACOX1
gene_biotype: protein_coding
description:
  Peroxisomal acyl-CoA oxidase 1, A chain; Catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs (By similarity). Isoform 1 shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length (By similarity). Isoform 2 is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs (By similarity).


ensembl_gene_id: ENSPPYP00000009716
symbol: EXOC7
gene_biotype: protein_coding
description:
  Exocyst complex component 7; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.


ensembl_gene_id: ENSPPYP00000009734
symbol: JMJD6
gene_biotype: protein_coding
description:
  Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6; Dioxygenase that can both act as a arginine demethylase and a lysyl-hydroxylase. Acts as a lysyl-hydroxylase that catalyzes 5- hydroxylation on specific lysine residues of target proteins such as U2AF2/U2AF65 and LUC7L2. Regulates RNA splicing by mediating 5- hydroxylation of U2AF2/U2AF65, affecting the pre-mRNA splicing activity of U2AF2/U2AF65. Hydroxylates its own N-terminus, which is required for homooligomerization. In addition to peptidyl-lysine 5-dioxygenase activity, may act as an RNA hydroxylase, as suggested by it [...]


ensembl_gene_id: ENSPPYP00000009742
symbol: CR201_G0021476
gene_biotype: protein_coding
description:
  SEPT9 isoform 10; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPPYP00000009753
symbol: AFMID
gene_biotype: protein_coding
description:
  Kynurenine formamidase; Catalyzes the hydrolysis of N-formyl-L-kynurenine to L- kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites.


ensembl_gene_id: ENSPPYP00000009754
symbol: BIRC5
gene_biotype: protein_coding
description:
  Baculoviral IAP repeat-containing protein 5; Multitasking protein that has dual roles in promoting cell proliferation and preventing apoptosis (By similarity). Component of a chromosome passage protein complex (CPC) which is essential for chromosome alignment and segregation during mitosis and cytokinesis (By similarity). Acts as an important regulator of the localization of this complex; directs CPC movement to different locations from the inner centromere during prometaphase to midbody during cytokinesis and participates in the organization of the center spindle by associating with p [...]


ensembl_gene_id: ENSPPYP00000009757
symbol: PGS1
gene_biotype: protein_coding
description:
  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial; Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin.


ensembl_gene_id: ENSPPYP00000009763
symbol: LGALS3BP
gene_biotype: protein_coding
description:
  Galectin-3-binding protein; Promotes integrin-mediated cell adhesion. May stimulate host defense against viruses and tumor cells (By similarity).


ensembl_gene_id: ENSPPYP00000009778
symbol: GAA
gene_biotype: protein_coding
description:
  Lysosomal alpha-glucosidase; Essential for the degradation of glycogen in lysosomes. Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans.


ensembl_gene_id: ENSPPYP00000009791
symbol: CHMP6
gene_biotype: protein_coding
description:
  Charged multivesicular body protein 6; Probable core 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 sequential function [...]


ensembl_gene_id: ENSPPYP00000009800
symbol: SLC38A10
gene_biotype: protein_coding
description:
  Putative sodium-coupled neutral amino acid transporter 10; Putative sodium-dependent amino acid/proton antiporter. Belongs to the amino acid/polyamine transporter 2 family.


ensembl_gene_id: ENSPPYP00000009814
symbol: CR201_G0021153
gene_biotype: protein_coding
description:
  Hepatocyte growth factor-regulated tyrosine kinase substrate; Involved in intracellular signal transduction mediated by cytokines and growth factors. When associated with STAM, it suppresses DNA signaling upon stimulation by IL-2 and GM-CSF. Could be a direct effector of PI3-kinase in vesicular pathway via early endosomes and may regulate trafficking to early and late endosomes by recruiting clathrin. May concentrate ubiquitinated receptors within clathrin- coated regions. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with STAM (E [...]


ensembl_gene_id: ENSPPYP00000009818
symbol: P4HB
gene_biotype: protein_coding
description:
  Protein disulfide-isomerase; This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural modifications of exofacial proteins. Inside the cell, seems to form/rearrange disulfide bonds of nascent proteins. At high concentrations, functions as a chaperone that inhibits aggregation of misfolded proteins. At low concentrations, facilitates aggregation (anti-chaperone activity). May be involved with other chape [...]


ensembl_gene_id: ENSPPYP00000009827
symbol: PYCR1
gene_biotype: protein_coding
description:
  Pyrroline-5-carboxylate reductase 1, mitochondrial; Housekeeping enzyme that catalyzes the last step in proline biosynthesis. Can utilize both NAD and NADP, but has higher affinity for NAD. Involved in the cellular response to oxidative stress. Belongs to the pyrroline-5-carboxylate reductase family.


ensembl_gene_id: ENSPPYP00000009834
symbol: CENPX
gene_biotype: protein_coding
description:
  Centromere protein X; DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage. In complex with CENPS (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM. In complex with CENPS and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked rep [...]


ensembl_gene_id: ENSPPYP00000009846
symbol: CSNK1D
gene_biotype: protein_coding
description:
  Casein kinase I isoform delta; Essential serine/threonine-protein kinase that regulates diverse cellular growth and survival processes including Wnt signaling, DNA repair and circadian rhythms. It can phosphorylate a large number of proteins. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. Phosphorylates connexin-43/GJA1, MAP1A, SNAPIN, MAPT/TAU, TOP2A, DCK, HIF1A, EIF6, p53/TP53, DVL2, DVL3, ESR1, AIB1/NCOA3, DNMT1, PKD2, YAP1, PER1 and PER2. Central component of the circadian clock. In balance with PP1, dete [...]


ensembl_gene_id: ENSPPYP00000009860
symbol: WDR45B
gene_biotype: protein_coding
description:
  WD repeat domain phosphoinositide-interacting protein 3; Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation. Binds phosphatidylinositol 3-phosphate (PtdIns3P) forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases and is recruited at phagophore assembly sites where it regulates the elongation of nascent phagophores downstream of WIPI2. In the cellular response to starvation, may also functi [...]


ensembl_gene_id: ENSPPYP00000009889
symbol: VMP1
gene_biotype: protein_coding
description:
  Vacuole membrane protein 1; Stress-induced protein that, when overexpressed, promotes formation of intracellular vacuoles followed by cell death. May be involved in the cytoplasmic vacuolization of acinar cells during the early stage of acute pancreatitis. Involved in cell-cell adhesion. Plays an essential role in formation of cell junctions. Plays a role in the initial stages of the autophagic process through its interaction with BECN1. Required for autophagosome formation (By similarity). Belongs to the VMP1 family.


ensembl_gene_id: ENSPPYP00000009891
symbol: CLTC
gene_biotype: protein_coding
description:
  Clathrin heavy chain; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles; Belongs to the clathrin heavy chain family.


ensembl_gene_id: ENSPPYP00000009892
symbol: DHX40
gene_biotype: protein_coding
description:
  Probable ATP-dependent RNA helicase DHX40; Probable ATP-dependent RNA helicase; Belongs to the DEAD box helicase family. DEAH subfamily.


ensembl_gene_id: ENSPPYP00000009916
symbol: SLC47A1
gene_biotype: protein_coding
description:
  Multidrug and toxin extrusion protein 1; Solute transporter for tetraethylammonium (TEA), 1-methyl-4- phenylpyridinium (MPP), cimetidine, N-methylnicotinamide (NMN), metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate, acyclovir, ganciclovir and also the zwitterionic cephalosporin, cephalexin and cephradin. Seems to also play a role in the uptake of oxaliplatin (a new platinum anticancer agent). Able to transport paraquat (PQ or N,N-dimethyl-4-4'-bipiridinium); a widely used herbicid. Responsible for the secretion of cationic drugs across the brush border membran [...]


ensembl_gene_id: ENSPPYP00000009918
symbol: SLC47A2
gene_biotype: protein_coding
description:
  Multidrug and toxin extrusion protein 2; Solute transporter for tetraethylammonium (TEA), 1-methyl-4- phenylpyridinium (MPP), cimetidine, N-methylnicotinamide, metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate, acyclovir, and ganciclovir. Responsible for the secretion of cationic drugs across the brush border membranes (By similarity); Belongs to the multi antimicrobial extrusion (MATE) (TC 2.A.66.1) family.


ensembl_gene_id: ENSPPYP00000009943
symbol: SEPT9
gene_biotype: protein_coding
description:
  SEPT9 isoform 29; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPPYP00000009966
symbol: CDK5RAP3
gene_biotype: protein_coding
description:
  CDK5 regulatory subunit-associated protein 3; Probable tumor suppressor initially identified as a CDK5R1 interactor controlling cell proliferation. Negatively regulates NF- kappa-B-mediated gene transcription through the control of RELA phosphorylation. Also regulates mitotic G2/M transition checkpoint and mitotic G2 DNA damage checkpoint. Through its interaction with CDKN2A/ARF and MDM2 may induce MDM2-dependent p53/TP53 ubiquitination, stabilization and activation in the nucleus, thereby promoting G1 cell cycle arrest and inhibition of cell proliferation. May play a role in the unfol [...]


ensembl_gene_id: ENSPPYP00000009968
symbol: COPZ2
gene_biotype: protein_coding
description:
  Coatomer subunit zeta; The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-dissociation properties with the coatomer complex.


ensembl_gene_id: ENSPPYP00000009969
symbol: NFE2L1
gene_biotype: protein_coding
description:
  Endoplasmic reticulum membrane sensor NFE2L1; [Endoplasmic reticulum membrane sensor NFE2L1]: Endoplasmic reticulum membrane sensor that translocates into the nucleus in response to various stresses to act as a transcription factor (By similarity). Constitutes a precursor of the transcription factor NRF1 (By similarity). Able to detect various cellular stresses, such as cholesterol excess, oxidative stress or proteasome inhibition (By similarity). In response to stress, it is released from the endoplasmic reticulum membrane following cleavage by the protease DDI2 and translocates into  [...]


ensembl_gene_id: ENSPPYP00000009996
symbol: CALCOCO2
gene_biotype: protein_coding
description:
  Calcium-binding and coiled-coil domain-containing protein 2; Xenophagy-specific receptor required for autophagy-mediated intracellular bacteria degradation (By similarity). Acts as an effector protein of galectin-sensed membrane damage that restricts the proliferation of infecting pathogens upon entry into the cytosol by targeting LGALS8-associated bacteria for autophagy (By similarity). Initially orchestrates bacteria targeting to autophagosomes and subsequently ensures pathogen degradation by regulating pathogen- containing autophagosome maturation (By similarity). Bacteria targeting [...]


ensembl_gene_id: ENSPPYP00000010000
symbol: SNF8
gene_biotype: protein_coding
description:
  Vacuolar-sorting protein SNF8; Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. Belongs to the SNF8 family.


ensembl_gene_id: ENSPPYP00000010012
symbol: SPOP
gene_biotype: protein_coding
description:
  Speckle-type POZ protein; Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation. In complex with CUL3, involved in ubiquitination and proteasomal degradation of BRMS1, DAXX, PDX1/IPF1, GLI2 and GLI3. In complex with CUL3, involved in ubiquitination of MACROH2A1 and BMI1; this does not lead to their proteasomal degradation. Inhibits transcriptional activation of PDX1/IPF1 targets, such as insulin, by promoting PDX1/IPF1 degradation. The cullin-RING- [...]


ensembl_gene_id: ENSPPYP00000010056
symbol: PRKAR1A
gene_biotype: protein_coding
description:
  cAMP-dependent protein kinase type I-alpha regulatory subunit; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells.


ensembl_gene_id: ENSPPYP00000010077
symbol: SEH1L
gene_biotype: protein_coding
description:
  Nucleoporin SEH1; Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore. Belongs to the WD repeat SEC13 family.


ensembl_gene_id: ENSPPYP00000010079
symbol: PSMG2
gene_biotype: protein_coding
description:
  Proteasome assembly chaperone 2; Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1. Belongs to the PSMG2 family.


ensembl_gene_id: ENSPPYP00000010081
symbol: CEP76
gene_biotype: protein_coding
description:
  Centrosomal protein of 76 kDa; Centrosomal protein involved in regulation of centriole duplication. Required to limit centriole duplication to once per cell cycle by preventing centriole reduplication (By similarity).


ensembl_gene_id: ENSPPYP00000010093
symbol: MPPE1
gene_biotype: protein_coding
description:
  Metallophosphoesterase 1; Metallophosphoesterase required for transport of GPI-anchor proteins from the endoplasmic reticulum to the Golgi. Acts in lipid remodeling steps of GPI-anchor maturation by mediating the removal of a side-chain ethanolamine-phosphate (EtNP) from the second Man (Man2) of the GPI intermediate, an essential step for efficient transport of GPI- anchor proteins (By similarity); Belongs to the metallophosphoesterase superfamily. MPPE1 family.


ensembl_gene_id: ENSPPYP00000010103
symbol: VAPA
gene_biotype: protein_coding
description:
  Vesicle-associated membrane protein-associated protein A; Binds to OSBPL3, which mediates recruitment of VAPA to plasma membrane sites. The ORP3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface. With OSBPL3, may regulate ER morphology. May play a role in vesicle trafficking.


ensembl_gene_id: ENSPPYP00000010110
symbol: TWSG1
gene_biotype: protein_coding
description:
  Twisted gastrulation protein homolog 1; May be involved in dorsoventral axis formation. Seems to antagonize BMP signaling by forming ternary complexes with CHRD and BMPs, thereby preventing BMPs from binding to their receptors. In addition to the anti-BMP function, also has pro-BMP activity, partly mediated by cleavage and degradation of CHRD, which releases BMPs from ternary complexes. May be an important modulator of BMP-regulated cartilage development and chondrocyte differentiation. May play a role in thymocyte development (By similarity); Belongs to the twisted gastrulation protei [...]


ensembl_gene_id: ENSPPYP00000010136
symbol: MYL12A
gene_biotype: protein_coding
description:
  Myosin regulatory light chain 12A; Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion (By similarity).


ensembl_gene_id: ENSPPYP00000010153
symbol: ENOSF1
gene_biotype: protein_coding
description:
  Mitochondrial enolase superfamily member 1; Plays a role in the catabolism of L-fucose, a sugar that is part of the carbohydrates that are attached to cellular glycoproteins. Catalyzes the dehydration of L-fuconate to 2-keto-3-deoxy-L-fuconate by the abstraction of the 2-proton to generate an enediolate intermediate that is stabilized by the magnesium ion. May down-regulate thymidylate synthase activity, possibly already at the RNA level, by promoting the degradation of TYMS mRNA via an antisense RNA-based mechanism.


ensembl_gene_id: ENSPPYP00000010161
symbol: ROCK1
gene_biotype: protein_coding
description:
  Rho-associated protein kinase; Protein kinase which is a key regulator of actin cytoskeleton and cell polarity.


ensembl_gene_id: ENSPPYP00000010172
symbol: RIOK3
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase RIO3; Involved in regulation of type I interferon (IFN)-dependent immune response which plays a critical role in the innate immune response against DNA and RNA viruses.


ensembl_gene_id: ENSPPYP00000010187
symbol: SS18
gene_biotype: protein_coding
description:
  Protein SSXT; Appears to function synergistically with RBM14 as a transcriptional coactivator. Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner; Belongs to the SS18 family.


ensembl_gene_id: ENSPPYP00000010197
symbol: CDH2
gene_biotype: protein_coding
description:
  Cadherin-2; Calcium-dependent cell adhesion protein; preferentially mediates homotypic cell-cell adhesion by dimerization with a CDH2 chain from another cell. Cadherins may thus contribute to the sorting of heterogeneous cell types. Acts as a regulator of neural stem cells quiescence by mediating anchorage of neural stem cells to ependymocytes in the adult subependymal zone: upon cleavage by MMP24, CDH2-mediated anchorage is affected, leading to modulate neural stem cell quiescence. CDH2 may be involved in neuronal recognition mechanism. In hippocampal neurons, may regulate dendritic s [...]


ensembl_gene_id: ENSPPYP00000010199
symbol: DSC3
gene_biotype: protein_coding
description:
  DSC3 isoform 2; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSPPYP00000010200
symbol: DSC2
gene_biotype: protein_coding
description:
  DSC2 isoform 1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSPPYP00000010202
symbol: DSG1
gene_biotype: protein_coding
description:
  DSG1 isoform 1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSPPYP00000010203
symbol: DSG4
gene_biotype: protein_coding
description:
  DSG4 isoform 2; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSPPYP00000010204
symbol: DSG3
gene_biotype: protein_coding
description:
  DSG3 isoform 1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSPPYP00000010206
symbol: TTR
gene_biotype: protein_coding
description:
  Transthyretin; Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain (By similarity). Belongs to the transthyretin family.


ensembl_gene_id: ENSPPYP00000010220
symbol: MAPRE2
gene_biotype: protein_coding
description:
  Microtubule-associated protein RP/EB family member 2; May be involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration (By similarity); Belongs to the MAPRE family.


ensembl_gene_id: ENSPPYP00000010225
symbol: ZNF24
gene_biotype: protein_coding
description:
  Zinc finger protein 24; Transcription factor required for myelination of differentiated oligodendrocytes. Required for the conversion of oligodendrocytes from the premyelinating to the myelinating state. In the developing central nervous system (CNS), involved in the maintenance in the progenitor stage by promoting the cell cycle. Specifically binds to the 5'-TCAT-3' DNA sequence. Has transcription repressor activity in vitro (By similarity).


ensembl_gene_id: ENSPPYP00000010232
symbol: RPRD1A
gene_biotype: protein_coding
description:
  Regulation of nuclear pre-mRNA domain-containing protein 1A; Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and participates in dephosphorylation of the CTD by RPAP2. May act as a negative regulator of cyclin-D1 (CCND1) and cyclin-E (CCNE1) in the cell cycle; Belongs to the UPF0400 (RTT103) family.


ensembl_gene_id: ENSPPYP00000010235
symbol: MOCOS
gene_biotype: protein_coding
description:
  Molybdenum cofactor sulfurase; Sulfurates the molybdenum cofactor. Sulfation of molybdenum is essential for xanthine dehydrogenase (XDH) and aldehyde oxidase (ADO) enzymes in which molybdenum cofactor is liganded by 1 oxygen and 1 sulfur atom in active form.


ensembl_gene_id: ENSPPYP00000010242
symbol: CELF4
gene_biotype: protein_coding
description:
  CUGBP Elav-like family member 4; RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre- mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic site [...]


ensembl_gene_id: ENSPPYP00000010258
symbol: ATP5F1A
gene_biotype: protein_coding
description:
  ATP synthase subunit alpha, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the  [...]


ensembl_gene_id: ENSPPYP00000010275
symbol: SMAD2
gene_biotype: protein_coding
description:
  Mothers against decapentaplegic homolog 2; Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. May act as a tumor suppressor in colorectal carcinoma. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator [...]


ensembl_gene_id: ENSPPYP00000010279
symbol: DYM
gene_biotype: protein_coding
description:
  Dymeclin; Necessary for correct organization of Golgi apparatus. Involved in bone development; Belongs to the dymeclin family.


ensembl_gene_id: ENSPPYP00000010284
symbol: ACAA2
gene_biotype: protein_coding
description:
  3-ketoacyl-CoA thiolase, mitochondrial; In the production of energy from fats, this is one of the enzymes that catalyzes the last step of the mitochondrial beta- oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA. Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain unbranched 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms. Also catalyzes the condensation of two acetyl-CoA molecules into acetoacetyl-CoA and could be involved in the production of ketone bodies. Also displays hydrolase activit [...]


ensembl_gene_id: ENSPPYP00000010317
symbol: NEDD4L
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase NEDD4-like; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits TGF- beta signaling by triggering SMAD2 and TGFBR1 ubiquitination and proteasome-dependent degradation. Promotes ubiquitination and internalization of various plasma membrane channels such as ENaC, Nav1.2, Nav1.3, Nav1.5, Nav1.7, Nav1.8, Kv1.3, KCNH2, EAAT1 or CLC5. Promotes ubiquitination and degradation of SGK1 and TNK2. Ubiquitinates BRAT1 and this ubiq [...]


ensembl_gene_id: ENSPPYP00000010320
symbol: SEC11C
gene_biotype: protein_coding
description:
  Signal peptidase complex catalytic subunit SEC11C; Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.


ensembl_gene_id: ENSPPYP00000010340
symbol: KDSR
gene_biotype: protein_coding
description:
  3-ketodihydrosphingosine reductase; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPPYP00000010341
symbol: VPS4B
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 4B; Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. 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 fact [...]


ensembl_gene_id: ENSPPYP00000010356
symbol: TMX3
gene_biotype: protein_coding
description:
  Protein disulfide-isomerase TMX3; Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase (By similarity).


ensembl_gene_id: ENSPPYP00000010362
symbol: SOCS6
gene_biotype: protein_coding
description:
  Suppressor of cytokine signaling 6; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. May be a substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5- SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Regulates KIT degradation by ubiquitination of the tyrosine- phosphorylated receptor (By similarity).


ensembl_gene_id: ENSPPYP00000010367
symbol: TIMM21
gene_biotype: protein_coding
description:
  Mitochondrial import inner membrane translocase subunit Tim21; Participates in the translocation of transit peptide- containing proteins across the mitochondrial inner membrane. Also required for assembly of mitochondrial respiratory chain complex I and complex IV as component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex. Probably shuttles between the presequence translocase and respiratory-chain assembly intermediates in a process that promotes incorporation of early nuclear-encoded subunits into these complexes.


ensembl_gene_id: ENSPPYP00000010372
symbol: CNDP2
gene_biotype: protein_coding
description:
  Cytosolic non-specific dipeptidase; Hydrolyzes a variety of dipeptides including L-carnosine but has a strong preference for Cys-Gly. Catalyzes the production of N- lactoyl-amino acids from lactate and amino acids by reverse proteolysis.


ensembl_gene_id: ENSPPYP00000010394
symbol: CTDP1
gene_biotype: protein_coding
description:
  RNA polymerase II subunit A C-terminal domain phosphatase; This promotes the activity of RNA polymerase II.


ensembl_gene_id: ENSPPYP00000010395
symbol: KCNG2
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily G member 2; Belongs to the potassium channel family.


ensembl_gene_id: ENSPPYP00000010419
symbol: POLRMT
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Belongs to the phage and mitochondrial RNA polymerase family.


ensembl_gene_id: ENSPPYP00000010425
symbol: MISP
gene_biotype: protein_coding
description:
  Mitotic interactor and substrate of PLK1; Plays a role in mitotic spindle orientation and mitotic progression. Regulates the distribution of dynactin at the cell cortex in a PLK1-dependent manner, thus stabilizing cortical and astral microtubule attachments required for proper mitotic spindle positioning. May link microtubules to the actin cytospkeleton and focal adhesions. May be required for directed cell migration and centrosome orientation. May also be necessary for proper stacking of the Golgi apparatus (By similarity); Belongs to the MISP family.


ensembl_gene_id: ENSPPYP00000010433
symbol: MED16
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 16; 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: ENSPPYP00000010439
symbol: CNN2
gene_biotype: protein_coding
description:
  Calponin-2; Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity (By similarity).


ensembl_gene_id: ENSPPYP00000010441
symbol: ARHGAP45
gene_biotype: protein_coding
description:
  Rho GTPase-activating protein 45; Contains a GTPase activator for the Rho-type GTPases (RhoGAP) domain that would be able to negatively regulate the actin cytoskeleton as well as cell spreading. However, also contains N-terminally a BAR- domin which is able to play an autoinhibitory effect on this RhoGAP activity.


ensembl_gene_id: ENSPPYP00000010442
symbol: POLR2E
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerases I, II, and III subunit RPABC1; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non- coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2E/RPB5 is part of the [...]


ensembl_gene_id: ENSPPYP00000010451
symbol: CIRBP
gene_biotype: protein_coding
description:
  Cold-inducible RNA-binding protein; Cold-inducible mRNA binding protein that plays a protective role in the genotoxic stress response by stabilizing transcripts of genes involved in cell survival. Acts as a translational activator. Seems to play an essential role in cold-induced suppression of cell proliferation. Binds specifically to the 3'-untranslated regions (3'- UTRs) of stress-responsive transcripts RPA2 and TXN. Acts as a translational repressor. Promotes assembly of stress granules (SGs), when overexpressed (By similarity).


ensembl_gene_id: ENSPPYP00000010453
symbol: NDUFS7
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPPYP00000010455
symbol: CR201_G0052501
gene_biotype: protein_coding
description:
  Guanidinoacetate N-methyltransferase; Converts guanidinoacetate to creatine, using S- adenosylmethionine as the methyl donor. Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family.


ensembl_gene_id: ENSPPYP00000010473
symbol: SCAMP4
gene_biotype: protein_coding
description:
  Secretory carrier-associated membrane protein 4; Probably involved in membrane protein trafficking. Belongs to the SCAMP family.


ensembl_gene_id: ENSPPYP00000010480
symbol: AP3D1
gene_biotype: protein_coding
description:
  AP-3 complex subunit delta; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane.


ensembl_gene_id: ENSPPYP00000010510
symbol: NCLN
gene_biotype: protein_coding
description:
  Nicalin; May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning.


ensembl_gene_id: ENSPPYP00000010514
symbol: DOHH
gene_biotype: protein_coding
description:
  Deoxyhypusine hydroxylase; Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)-L- lysine intermediate to form hypusine, an essential post-translational modification only found in mature eIF-5A factor; Belongs to the deoxyhypusine hydroxylase family.


ensembl_gene_id: ENSPPYP00000010534
symbol: EEF2
gene_biotype: protein_coding
description:
  Elongation factor 2; Catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome (By similarity); Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF [...]


ensembl_gene_id: ENSPPYP00000010561
symbol: TICAM1
gene_biotype: protein_coding
description:
  TIR domain-containing adapter molecule 1; Involved in innate immunity against invading pathogens. Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines.


ensembl_gene_id: ENSPPYP00000010562
symbol: PLIN3
gene_biotype: protein_coding
description:
  Perilipin-3; Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network.


ensembl_gene_id: ENSPPYP00000010573
symbol: SAFB
gene_biotype: protein_coding
description:
  Scaffold attachment factor B1; Binds to scaffold/matrix attachment region (S/MAR) DNA and forms a molecular assembly point to allow the formation of a 'transcriptosomal' complex (consisting of SR proteins and RNA polymerase II) coupling transcription and RNA processing. When associated with RBMX, binds to and stimulates transcription from the SREBF1 promoter.


ensembl_gene_id: ENSPPYP00000010574
symbol: MICOS13
gene_biotype: protein_coding
description:
  MICOS complex subunit MIC13; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane.


ensembl_gene_id: ENSPPYP00000010577
symbol: LONP1
gene_biotype: protein_coding
description:
  Lon protease homolog, mitochondrial; ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single-stranded, site-specific, and strand- specific manner. May regulate mi [...]


ensembl_gene_id: ENSPPYP00000010589
symbol: RANBP3
gene_biotype: protein_coding
description:
  Ran-binding protein 3; Acts as a cofactor for XPO1/CRM1-mediated nuclear export, perhaps as export complex scaffolding protein. Bound to XPO1/CRM1, stabilizes the XPO1/CRM1-cargo interaction. In the absence of Ran-bound GTP prevents binding of XPO1/CRM1 to the nuclear pore complex. Binds to CHC1/RCC1 and increases the guanine nucleotide exchange activity of CHC1/RCC1. Recruits XPO1/CRM1 to CHC1/RCC1 in a Ran-dependent manner. Negative regulator of TGF-beta signaling through interaction with the R-SMAD proteins, SMAD2 and SMAD3, and mediating their nuclear export (By similarity).


ensembl_gene_id: ENSPPYP00000010591
symbol: RFX2
gene_biotype: protein_coding
description:
  DNA-binding protein RFX2; Transcription factor that acts as a key regulator of spermatogenesis. Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function. Recognizes and binds the X-box, a regulatory motif with DNA sequence 5'-GTNRCC(0-3N)RGYAAC-3' present on promoters. Probably activates transcription of the testis-specific histone gene HIST1H1T.


ensembl_gene_id: ENSPPYP00000010599
symbol: GTF2F1
gene_biotype: protein_coding
description:
  Transcription initiation factor IIF subunit alpha; TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation. Belongs to the TFIIF alpha subunit family.


ensembl_gene_id: ENSPPYP00000010610
symbol: TRIP10
gene_biotype: protein_coding
description:
  Cdc42-interacting protein 4; Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. Also acts as a link between CDC42 signaling and regulation of the actin cytoskeleton. Binds to lipids such as phosphatidylinositol 4,5- bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also enhances actin polymerization in the vicinity of membrane tubules by recruiting WASL/N-WASP which in turn activates the Arp2/3 complex. Actin polymerization and dynamin may promote the fission of membrane tubules [...]


ensembl_gene_id: ENSPPYP00000010625
symbol: PNPLA6
gene_biotype: protein_coding
description:
  Neuropathy target esterase; Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy (By similarity).


ensembl_gene_id: ENSPPYP00000010651
symbol: TIMM44
gene_biotype: protein_coding
description:
  Mitochondrial import inner membrane translocase subunit TIM44; 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; Belongs to the Tim44 family.


ensembl_gene_id: ENSPPYP00000010705
symbol: EIF3G
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit G; RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termi [...]


ensembl_gene_id: ENSPPYP00000010706
symbol: DNMT1
gene_biotype: protein_coding
description:
  DNA (cytosine-5)-methyltransferase; Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.


ensembl_gene_id: ENSPPYP00000010716
symbol: KEAP1
gene_biotype: protein_coding
description:
  Kelch-like ECH-associated protein 1; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that regulates the response to oxidative stress by targeting NFE2L2/NRF2 for ubiquitination. KEAP1 acts as a key sensor of oxidative and electrophilic stress: in normal conditions, the BCR(KEAP1) complex mediates ubiquitination and degradation of NFE2L2/NRF2, a transcription factor regulating expression of many cytoprotective genes. In response to oxidative stress, different electrophile metabolites trigger non-enzymatic covalent modifications of highly reactive cysteine [...]


ensembl_gene_id: ENSPPYP00000010723
symbol: SLC44A2
gene_biotype: protein_coding
description:
  Choline transporter-like protein 2; Choline transporter; Belongs to the CTL (choline transporter-like) family.


ensembl_gene_id: ENSPPYP00000010724
symbol: QTRT1
gene_biotype: protein_coding
description:
  Queuine tRNA-ribosyltransferase catalytic subunit 1; Catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2- cyclopenten-1-yl)amino)methyl)-7-deazaguanosine). Catalysis occurs through a double-displacement mechanism. The nucleophile active site attacks the C1' of nucleotide 34 to detach the guanine base from the RNA, formi [...]


ensembl_gene_id: ENSPPYP00000010725
symbol: DNM2
gene_biotype: protein_coding
description:
  DNM2 isoform 6; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPPYP00000010726
symbol: TMED1
gene_biotype: protein_coding
description:
  Transmembrane emp24 domain-containing protein 1; Potential role in vesicular protein trafficking, mainly in the early secretory pathway. May act as a cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and may be involved in vesicle coat formation at the cytoplasmic side.


ensembl_gene_id: ENSPPYP00000010728
symbol: CARM1
gene_biotype: protein_coding
description:
  CARM1 isoform 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSPPYP00000010755
symbol: ZNF136
gene_biotype: protein_coding
description:
  Zinc finger protein 136; May be involved in transcriptional regulation as a weak repressor when alone, or a potent one when fused with a heterologous protein containing a KRAB B-domain; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000010759
symbol: ZNF791
gene_biotype: protein_coding
description:
  Zinc finger protein 791; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000010768
symbol: GET3
gene_biotype: protein_coding
description:
  ATPase GET3; ATPase required for the post-translational delivery of tail- anchored (TA) proteins to the endoplasmic reticulum. Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors, where the tail-anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydrolysis is required for insertion. S [...]


ensembl_gene_id: ENSPPYP00000010772
symbol: RNASEH2A
gene_biotype: protein_coding
description:
  Ribonuclease; Endonuclease that specifically degrades the RNA of RNA-DNA hybrids; Belongs to the RNase HII family.


ensembl_gene_id: ENSPPYP00000010790
symbol: CR201_G0047825
gene_biotype: protein_coding
description:
  Voltage-dependent P/Q-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-1A gives rise to P and/or Q- type calcium currents.


ensembl_gene_id: ENSPPYP00000010852
symbol: RAB8A
gene_biotype: protein_coding
description:
  Ras-related protein Rab-8A; 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 is involved in polarized vesicular trafficking and neurotransmitter release. Together with RAB11A, RAB3IP, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes t [...]


ensembl_gene_id: ENSPPYP00000010856
symbol: AP1M1
gene_biotype: protein_coding
description:
  Protein FAM32A; May induce G2 arrest and apoptosis. May also increase cell sensitivity to apoptotic stimuli; Belongs to the FAM32 family.


ensembl_gene_id: ENSPPYP00000010875
symbol: BABAM1
gene_biotype: protein_coding
description:
  BRISC and BRCA1-A complex member 1; 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 is required for the complex integrity and its localization at DSBs. Component of the BRISC complex, a multiprotein complex that specifically cl [...]


ensembl_gene_id: ENSPPYP00000010881
symbol: DDA1
gene_biotype: protein_coding
description:
  DET1- and DDB1-associated protein 1; May be involved in ubiquitination and subsequent proteasomal degradation of target proteins. Component of the DDD-E2 complexes which may provide a platform for interaction with CUL4A and WD repeat proteins (By similarity); Belongs to the DDA1 family.


ensembl_gene_id: ENSPPYP00000010904
symbol: MPV17L2
gene_biotype: protein_coding
description:
  MPV17 mitochondrial inner membrane protein like 2; Belongs to the peroxisomal membrane protein PXMP2/4 family.


ensembl_gene_id: ENSPPYP00000010908
symbol: LSM4
gene_biotype: protein_coding
description:
  U6 snRNA-associated Sm-like protein LSm4; Binds specifically to the 3'-terminal U-tract of U6 snRNA.


ensembl_gene_id: ENSPPYP00000010924
symbol: COPE
gene_biotype: protein_coding
description:
  Coatomer subunit epsilon; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated with ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex  [...]


ensembl_gene_id: ENSPPYP00000010953
symbol: ZNF14
gene_biotype: protein_coding
description:
  Zinc finger protein 14; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000010979
symbol: UQCRFS1
gene_biotype: protein_coding
description:
  Cytochrome b-c1 complex subunit Rieske, mitochondrial; Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis.


ensembl_gene_id: ENSPPYP00000010980
symbol: POP4
gene_biotype: protein_coding
description:
  Ribonuclease P protein subunit p29; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. Belongs to the eukaryotic/archaeal RNase P protein component 1 family.


ensembl_gene_id: ENSPPYP00000010991
symbol: DPY19L3
gene_biotype: protein_coding
description:
  Probable C-mannosyltransferase DPY19L3; Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins; Belongs to the dpy-19 family.


ensembl_gene_id: ENSPPYP00000010994
symbol: ANKRD27
gene_biotype: protein_coding
description:
  Ankyrin repeat domain-containing protein 27; May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics. May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE complex formation by trapping VAMP7 in a closed, fusogenically inactive conformation (By similarity). Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with Rab32, Rab38 and VAMP7. Involved in the regulation of neurite growth; the fun [...]


ensembl_gene_id: ENSPPYP00000011006
symbol: PEPD
gene_biotype: protein_coding
description:
  Xaa-Pro dipeptidase; Splits dipeptides with a prolyl or hydroxyprolyl residue in the C-terminal position. Plays an important role in collagen metabolism because of the high level of iminoacids in collagen (By similarity). Belongs to the peptidase M24B family. Eukaryotic-type prolidase subfamily.


ensembl_gene_id: ENSPPYP00000011009
symbol: LSM14A
gene_biotype: protein_coding
description:
  Protein LSM14 homolog A; Essential for formation of P-bodies, cytoplasmic structures that provide storage sites for non-translating mRNAs. Belongs to the LSM14 family.


ensembl_gene_id: ENSPPYP00000011012
symbol: GPI
gene_biotype: protein_coding
description:
  Glucose-6-phosphate isomerase; In the cytoplasm, catalyzes the conversion of glucose-6- phosphate to fructose-6-phosphate, the second step in glycolysis, and the reverse reaction during gluconeogenesis (By similarity). Besides it's role as a glycolytic enzyme, also acts as a secreted cytokine: acts as an angiogenic factor (AMF) that stimulates endothelial cell motility. Acts as a neurotrophic factor, neuroleukin, for spinal and sensory neurons. It is secreted by lectin-stimulated T-cells and induces immunoglobulin secretion (By similarity).


ensembl_gene_id: ENSPPYP00000011014
symbol: UBA2
gene_biotype: protein_coding
description:
  SUMO-activating enzyme subunit 2; The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2. Belongs to the ubiquitin-activating E1 family.


ensembl_gene_id: ENSPPYP00000011020
symbol: ZNF181
gene_biotype: protein_coding
description:
  Zinc finger protein 181; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000011026
symbol: HPN
gene_biotype: protein_coding
description:
  Serine protease hepsin non-catalytic chain; Plays an essential role in cell growth and maintenance of cell morphology. May mediate the activating cleavage of HGF and MST1/HGFL. Plays a role in the proteolytic processing of ACE2 (By similarity).


ensembl_gene_id: ENSPPYP00000011035
symbol: HAMP
gene_biotype: protein_coding
description:
  Hepcidin; Seems to act as a signaling molecule involved in the maintenance of iron homeostasis. Seems to be required in conjunction with HFE to regulate both intestinal iron absorption and iron storage in macrophages (By similarity); Belongs to the hepcidin family.


ensembl_gene_id: ENSPPYP00000011053
symbol: COX6B1
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 6B1; 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 [...]


ensembl_gene_id: ENSPPYP00000011075
symbol: CLIP3
gene_biotype: protein_coding
description:
  CAP-Gly domain-containing linker protein 3; Functions as a cytoplasmic linker protein. Involved in TGN- endosome dynamics. May modulate the cellular compartmentalization of AKT kinase family and promote its cell membrane localization, thereby playing a role in glucose transport in adipocytes (By similarity).


ensembl_gene_id: ENSPPYP00000011079
symbol: POLR2I
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase subunit; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Belongs to the archaeal rpoM/eukaryotic RPA12/RPB9/RPC11 RNA polymerase family.


ensembl_gene_id: ENSPPYP00000011094
symbol: ZNF585B
gene_biotype: protein_coding
description:
  Zinc finger protein 585B; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000011102
symbol: ZNF571
gene_biotype: protein_coding
description:
  Zinc finger protein 571; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000011119
symbol: PSMD8
gene_biotype: protein_coding
description:
  26S proteasome non-ATPase regulatory subunit 8; 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; Belongs to the proteasome subunit S14 family.


ensembl_gene_id: ENSPPYP00000011127
symbol: ACTN4
gene_biotype: protein_coding
description:
  Alpha-actinin-4; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions. May also function as a transcriptional coactivator, stimulating transcri [...]


ensembl_gene_id: ENSPPYP00000011133
symbol: ECH1
gene_biotype: protein_coding
description:
  Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial; Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4- trans-dienoyl-CoA; Belongs to the enoyl-CoA hydratase/isomerase family.


ensembl_gene_id: ENSPPYP00000011154
symbol: PAF1
gene_biotype: protein_coding
description:
  RNA polymerase II-associated factor 1 homolog; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser- 5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription  [...]


ensembl_gene_id: ENSPPYP00000011155
symbol: MED29
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 29; 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: ENSPPYP00000011160
symbol: SUPT5H
gene_biotype: protein_coding
description:
  Transcription elongation factor SPT5; Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote paus [...]


ensembl_gene_id: ENSPPYP00000011161
symbol: TIMM50
gene_biotype: protein_coding
description:
  Mitochondrial import inner membrane translocase subunit TIM50; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Has some phosphatase activity in vitro; however such activity may not be relevant in vivo.


ensembl_gene_id: ENSPPYP00000011181
symbol: PLD3
gene_biotype: protein_coding
description:
  5'-3' exonuclease PLD3; 5'->3' DNA exonuclease which digests single-stranded DNA (ssDNA) (By similarity). Regulates inflammatory cytokine responses via the degradation of nucleic acids, by reducing the concentration of ssDNA able to stimulate TLR9, a nucleotide-sensing receptor in collaboration with PLD4 (By similarity). May be important in myotube formation. Plays a role in lysosomal homeostasis. Involved in the regulation of endosomal protein sorting (By similarity).


ensembl_gene_id: ENSPPYP00000011210
symbol: BCKDHA
gene_biotype: protein_coding
description:
  2-oxoisovalerate dehydrogenase subunit alpha; The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).


ensembl_gene_id: ENSPPYP00000011224
symbol: RPS19
gene_biotype: protein_coding
description:
  40S ribosomal protein S19; Required for pre-rRNA processing and maturation of 40S ribosomal subunits; Belongs to the eukaryotic ribosomal protein eS19 family.


ensembl_gene_id: ENSPPYP00000011231
symbol: ZNF574
gene_biotype: protein_coding
description:
  Zinc finger protein 574; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000011239
symbol: PAFAH1B3
gene_biotype: protein_coding
description:
  Platelet-activating factor acetylhydrolase IB subunit gamma; Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalytic subunit. Plays an important role during the development of brain (By similarity); Belongs to the 'GDSL' lipolytic enzyme family. Platelet- activating factor acetylhydrolase IB beta/gamma subunits subfamily.


ensembl_gene_id: ENSPPYP00000011299
symbol: APOC1
gene_biotype: protein_coding
description:
  Truncated apolipoprotein C-I, acidic form; Inhibitor of lipoprotein binding to the low density lipoprotein (LDL) receptor, LDL receptor-related protein, and very low density lipoprotein (VLDL) receptor. Associates with high density lipoproteins (HDL) and the triacylglycerol-rich lipoproteins in the plasma and makes up about 10% of the protein of the VLDL and 2% of that of HDL. Appears to interfere directly with fatty acid uptake and is also the major plasma inhibitor of cholesteryl ester transfer protein (CETP). Binds free fatty acids and reduces their intracellular esterification. Mod [...]


ensembl_gene_id: ENSPPYP00000011309
symbol: BLOC1S3
gene_biotype: protein_coding
description:
  Biogenesis of lysosome-related organelles complex 1 subunit 3; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO). Belongs to the BLOC1S3 family.


ensembl_gene_id: ENSPPYP00000011315
symbol: KLC3
gene_biotype: protein_coding
description:
  Kinesin light chain 3; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport; Belongs to the kinesin light chain family.


ensembl_gene_id: ENSPPYP00000011323
symbol: VASP
gene_biotype: protein_coding
description:
  Vasodilator stimulated phosphoprotein; Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance, lamellipodial and filopodial dynamics, platelet activation and cell migration. Belongs to the Ena/VASP family.


ensembl_gene_id: ENSPPYP00000011328
symbol: SNRPD2
gene_biotype: protein_coding
description:
  Small nuclear ribonucleoprotein Sm D2; 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.


ensembl_gene_id: ENSPPYP00000011341
symbol: PGLYRP1
gene_biotype: protein_coding
description:
  Peptidoglycan-recognition protein; Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Involved in innate immunity.


ensembl_gene_id: ENSPPYP00000011367
symbol: AP2S1
gene_biotype: protein_coding
description:
  AP-2 complex subunit sigma; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein Transport via Transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold bu [...]


ensembl_gene_id: ENSPPYP00000011372
symbol: SAE1
gene_biotype: protein_coding
description:
  SUMO-activating enzyme subunit 1, N-terminally processed; The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2 (By similarity); Belongs to the ubiquitin-activating E1 family.


ensembl_gene_id: ENSPPYP00000011384
symbol: EHD2
gene_biotype: protein_coding
description:
  EHD2 isoform 1; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPPYP00000011385
symbol: NOP53
gene_biotype: protein_coding
description:
  Ribosome biogenesis protein NOP53; May play a role in ribosome biogenesis. Belongs to the NOP53 family.


ensembl_gene_id: ENSPPYP00000011386
symbol: SELENOW
gene_biotype: protein_coding
description:
  Selenoprotein W; Plays a role as a glutathione (GSH)-dependent antioxidant. May be involved in a redox-related process. May play a role in the myopathies of selenium deficiency (By similarity).


ensembl_gene_id: ENSPPYP00000011395
symbol: CARD8
gene_biotype: protein_coding
description:
  Caspase recruitment domain-containing protein 8; Inhibits NF-kappa-B activation. May participate in a regulatory mechanism that coordinates cellular responses controlled by NF-kappa-B transcription factor. May be a component of the inflammasome, a protein complex which also includes PYCARD, NALP2 and CASP1 and whose function would be the activation of proinflammatory caspases (By similarity).


ensembl_gene_id: ENSPPYP00000011417
symbol: CA11
gene_biotype: protein_coding
description:
  Carbonic anhydrase-related protein 11; Does not have a catalytic activity; Belongs to the alpha-carbonic anhydrase family.


ensembl_gene_id: ENSPPYP00000011426
symbol: BCAT2
gene_biotype: protein_coding
description:
  Branched-chain-amino-acid aminotransferase, mitochondrial; Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids (By similarity).


ensembl_gene_id: ENSPPYP00000011431
symbol: NUCB1
gene_biotype: protein_coding
description:
  Nucleobindin-1; Major calcium-binding protein of the Golgi which may have a role in calcium homeostasis (By similarity). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates alpha subunits of guanine nucleotide-binding proteins (G proteins) (By similarity).


ensembl_gene_id: ENSPPYP00000011435
symbol: FTL
gene_biotype: protein_coding
description:
  Ferritin light chain; 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. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity); Belongs to the ferritin family.


ensembl_gene_id: ENSPPYP00000011436
symbol: GYS1
gene_biotype: protein_coding
description:
  Glycogen [starch] synthase, muscle; Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan; Belongs to the glycosyltransferase 3 family.


ensembl_gene_id: ENSPPYP00000011437
symbol: RUVBL2
gene_biotype: protein_coding
description:
  RuvB-like helicase; Proposed core component of the chromatin remodeling Ino80 complex which exhibits DNA- and nucleosome-activated ATPase activity and catalyzes ATP-dependent nucleosome sliding.


ensembl_gene_id: ENSPPYP00000011480
symbol: NOSIP
gene_biotype: protein_coding
description:
  Nitric oxide synthase-interacting protein; Negatively regulates nitric oxide production by inducing NOS1 and NOS3 translocation to actin cytoskeleton and inhibiting their enzymatic activity; Belongs to the NOSIP family.


ensembl_gene_id: ENSPPYP00000011487
symbol: CR201_G0029663
gene_biotype: protein_coding
description:
  AP-2 complex subunit alpha; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold bu [...]


ensembl_gene_id: ENSPPYP00000011546
symbol: CTU1
gene_biotype: protein_coding
description:
  Cytoplasmic tRNA 2-thiolation protein 1; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). Directly binds tRNAs and probably acts by catalyzing adenylation of tRNAs, an intermediate required for 2-thiolation. It is unclear whether it acts as a sulfurtransferase that transfers sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position; Belongs to the TtcA family. CTU1/NCS6/ATPBD3 subfamily.


ensembl_gene_id: ENSPPYP00000011553
symbol: ETFB
gene_biotype: protein_coding
description:
  Electron transfer flavoprotein subunit beta; Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF- ubiquinone oxidoreductase. Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism. ETFB binds an AMP molecule that probably has a purely structural role.


ensembl_gene_id: ENSPPYP00000011556
symbol: LIM2
gene_biotype: protein_coding
description:
  Lens fiber membrane intrinsic protein; Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis; Belongs to the PMP-22/EMP/MP20 family.


ensembl_gene_id: ENSPPYP00000011571
symbol: ZNF615
gene_biotype: protein_coding
description:
  Zinc finger protein 615; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000011573
symbol: ZNF614
gene_biotype: protein_coding
description:
  Zinc finger protein 614; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000011588
symbol: ZNF665
gene_biotype: protein_coding
description:
  Zinc finger protein 665; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000011602
symbol: ZNF813
gene_biotype: protein_coding
description:
  Zinc finger protein 813; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000011604
symbol: ZNF331
gene_biotype: protein_coding
description:
  Zinc finger protein 331; May be involved in transcriptional regulation. May play a role in spermatogenesis (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000011610
symbol: CACNG7
gene_biotype: protein_coding
description:
  Voltage-dependent calcium channel gamma-7 subunit; Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (By similarity). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Shows specificity only for GRIA1 and GRIA2. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.


ensembl_gene_id: ENSPPYP00000011611
symbol: CACNG6
gene_biotype: protein_coding
description:
  Voltage-dependent calcium channel gamma-6 subunit; Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.


ensembl_gene_id: ENSPPYP00000011622
symbol: TSEN34
gene_biotype: protein_coding
description:
  tRNA-splicing endonuclease subunit Sen34; Constitutes one of the two catalytic subunit of the tRNA- splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structura [...]


ensembl_gene_id: ENSPPYP00000011687
symbol: U2AF2
gene_biotype: protein_coding
description:
  U2 snRNP auxiliary factor large subunit; Necessary for the splicing of pre-mRNA. Belongs to the splicing factor SR family.


ensembl_gene_id: ENSPPYP00000011724
symbol: TRAPPC2
gene_biotype: protein_coding
description:
  Trafficking protein particle complex subunit 2; Prevents ENO1-mediated transcriptional repression and antagonizes ENO1-mediated cell death. May play a role in vesicular transport from endoplasmic reticulum to Golgi (By similarity).


ensembl_gene_id: ENSPPYP00000011735
symbol: ZNF549
gene_biotype: protein_coding
description:
  Zinc finger protein 549; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000011739
symbol: ZNF547
gene_biotype: protein_coding
description:
  Zinc finger protein 547; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000011793
symbol: ELOF1
gene_biotype: protein_coding
description:
  Transcription elongation factor 1 homolog; Transcription elongation factor implicated in the maintenance of proper chromatin structure in actively transcribed regions. Belongs to the ELOF1 family.


ensembl_gene_id: ENSPPYP00000011835
symbol: MRI1
gene_biotype: protein_coding
description:
  Methylthioribose-1-phosphate isomerase; Catalyzes the interconversion of methylthioribose-1-phosphate (MTR-1-P) into methylthioribulose-1-phosphate (MTRu-1-P). Belongs to the eIF-2B alpha/beta/delta subunits family. MtnA subfamily.


ensembl_gene_id: ENSPPYP00000011847
symbol: ZNF507
gene_biotype: protein_coding
description:
  Zinc finger protein 507; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000011901
symbol: CCT3
gene_biotype: protein_coding
description:
  T-complex protein 1 subunit gamma; 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: ENSPPYP00000011912
symbol: DEGS1
gene_biotype: protein_coding
description:
  Sphingolipid delta(4)-desaturase DES1; Has sphingolipid-delta-4-desaturase activity. Converts D- erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine) (By similarity); Belongs to the fatty acid desaturase type 1 family. DEGS subfamily.


ensembl_gene_id: ENSPPYP00000011931
symbol: IPO13
gene_biotype: protein_coding
description:
  Importin-13; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis re [...]


ensembl_gene_id: ENSPPYP00000011946
symbol: PRMT6
gene_biotype: protein_coding
description:
  PRMT6 isoform 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSPPYP00000011952
symbol: TRMT6
gene_biotype: protein_coding
description:
  tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6; Substrate-binding subunit of tRNA (adenine-N1-)- methyltransferase, which catalyzes the formation of N1-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA.


ensembl_gene_id: ENSPPYP00000011956
symbol: FERMT1
gene_biotype: protein_coding
description:
  Fermitin family homolog 1; Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites (By similarity); Belongs to the kindlin family.


ensembl_gene_id: ENSPPYP00000011964
symbol: LAMP5
gene_biotype: protein_coding
description:
  Lysosome-associated membrane glycoprotein 5; Plays a role in short-term synaptic plasticity in a subset of GABAergic neurons in the brain; Belongs to the LAMP family.


ensembl_gene_id: ENSPPYP00000011970
symbol: SNAP25
gene_biotype: protein_coding
description:
  Synaptosomal-associated protein 25; t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells.


ensembl_gene_id: ENSPPYP00000011971
symbol: MKKS
gene_biotype: protein_coding
description:
  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis. Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis.


ensembl_gene_id: ENSPPYP00000011981
symbol: NDUFAF5
gene_biotype: protein_coding
description:
  Arginine-hydroxylase NDUFAF5, mitochondrial; Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT- ND1) at early stages. Acts by mediating hydroxylation of 'Arg-111' of NDUFS7. May also have methyltransferase activity.


ensembl_gene_id: ENSPPYP00000011984
symbol: FLRT3
gene_biotype: protein_coding
description:
  Leucine-rich repeat transmembrane protein FLRT3; Functions in cell-cell adhesion, cell migration and axon guidance, exerting an attractive or repulsive role depending on its interaction partners. Plays a role in the spatial organization of brain neurons. Plays a role in vascular development in the retina (By similarity). Plays a role in cell-cell adhesion via its interaction with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells (By similarity). Interaction with the intracellular domain of ROBO1 mediates axon attraction towards cells expres [...]


ensembl_gene_id: ENSPPYP00000011989
symbol: PCSK2
gene_biotype: protein_coding
description:
  Neuroendocrine convertase 2; Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Responsible for the release of glucagon from proglucagon in pancreatic A cells (By similarity).


ensembl_gene_id: ENSPPYP00000012002
symbol: POLR3F
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase III subunit RPC6; 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; Belongs to the eukaryotic RPC34/RPC39 RNA polymerase subunit family.


ensembl_gene_id: ENSPPYP00000012004
symbol: SEC23B
gene_biotype: protein_coding
description:
  Protein transport protein Sec23B; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex.


ensembl_gene_id: ENSPPYP00000012020
symbol: XRN2
gene_biotype: protein_coding
description:
  5'-3' exoribonuclease 2; Possesses 5'->3' exoribonuclease activity. May promote the termination of transcription by RNA polymerase II. During transcription termination, cleavage at the polyadenylation site liberates a 5' fragment which is subsequently processed to form the mature mRNA and a 3' fragment which remains attached to the elongating polymerase. The processive degradation of this 3' fragment by this protein may promote termination of transcription. Binds to RNA polymerase II (RNAp II) transcription termination R-loops formed by G-rich pause sites (By similarity).


ensembl_gene_id: ENSPPYP00000012049
symbol: PYGB
gene_biotype: protein_coding
description:
  Glycogen phosphorylase, brain form; Glycogen phosphorylase that regulates glycogen mobilization. Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.


ensembl_gene_id: ENSPPYP00000012058
symbol: CDS2
gene_biotype: protein_coding
description:
  Phosphatidate cytidylyltransferase; Provides CDP-diacylglycerol, an important precursor for the synthesis of phosphatidylinositol, phosphatidylglycerol, and cardiolipin.


ensembl_gene_id: ENSPPYP00000012059
symbol: PCNA
gene_biotype: protein_coding
description:
  Proliferating cell nuclear antigen; This protein is an auxiliary protein of DNA polymerase delta and is involved in the control of eukaryotic DNA replication by increasing the polymerase's processibility during elongation of the leading strand; Belongs to the PCNA family.


ensembl_gene_id: ENSPPYP00000012060
symbol: TMEM230
gene_biotype: protein_coding
description:
  Transmembrane protein 230; Involved in trafficking and recycling of synaptic vesicles. Belongs to the TMEM134/TMEM230 family.


ensembl_gene_id: ENSPPYP00000012088
symbol: ITPA
gene_biotype: protein_coding
description:
  Inosine triphosphate pyrophosphatase; Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions; Belongs to the HAM1 NTPase family.


ensembl_gene_id: ENSPPYP00000012098
symbol: VPS16
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 16 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes. Belongs to the VPS16 family.


ensembl_gene_id: ENSPPYP00000012103
symbol: IDH3B
gene_biotype: protein_coding
description:
  Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial; Plays a structural role to facilitate the assembly and ensure the full activity of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers.


ensembl_gene_id: ENSPPYP00000012104
symbol: NOP56
gene_biotype: protein_coding
description:
  Nucleolar protein 56; Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs (By similarity).


ensembl_gene_id: ENSPPYP00000012121
symbol: NSFL1C
gene_biotype: protein_coding
description:
  NSFL1 cofactor p47; Reduces the ATPase activity of VCP. Necessary for the fragmentation of Golgi stacks during mitosis and for VCP-mediated reassembly of Golgi stacks after mitosis. May play a role in VCP- mediated formation of transitional endoplasmic reticulum (tER). Inhibits the activity of CTSL (in vitro). Together with UBXN2B/p37, regulates the centrosomal levels of kinase AURKA/Aurora A levels during mitotic progression by promoting AURKA removal from centrosomes in prophase. Also, regulates spindle orientation during mitosis. Belongs to the NSFL1C family.


ensembl_gene_id: ENSPPYP00000012129
symbol: PSMF1
gene_biotype: protein_coding
description:
  Proteasome inhibitor PI31 subunit; Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptide substrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteins PA700 and PA28 (By similarity).


ensembl_gene_id: ENSPPYP00000012165
symbol: TPX2
gene_biotype: protein_coding
description:
  Targeting protein for Xklp2; Spindle assembly factor required for normal assembly of mitotic spindles. Required for normal assembly of microtubules during apoptosis. Required for chromatin and/or kinetochore dependent microtubule nucleation. Mediates AURKA localization to spindle microtubules. Activates AURKA by promoting its autophosphorylation at 'Thr-288' and protects this residue against dephosphorylation. TPX2 is inactivated upon binding to importin-alpha. At the onset of mitosis, GOLGA2 interacts with importin-alpha, liberating TPX2 from importin- alpha, allowing TPX2 to activate [...]


ensembl_gene_id: ENSPPYP00000012168
symbol: DUSP15
gene_biotype: protein_coding
description:
  DUSP15 isoform 5; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPPYP00000012173
symbol: PDRG1
gene_biotype: protein_coding
description:
  P53 and DNA damage-regulated protein 1; May play a role in chaperone-mediated protein folding. Belongs to the prefoldin subunit beta family.


ensembl_gene_id: ENSPPYP00000012177
symbol: TM9SF4
gene_biotype: protein_coding
description:
  Transmembrane 9 superfamily member 4; Associates with proteins harboring glycine-rich transmembrane domains and ensures their efficient localization to the cell surface. Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family.


ensembl_gene_id: ENSPPYP00000012188
symbol: DNMT3B
gene_biotype: protein_coding
description:
  DNMT3B isoform 3; Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.


ensembl_gene_id: ENSPPYP00000012189
symbol: MAPRE1
gene_biotype: protein_coding
description:
  Microtubule-associated protein RP/EB family member 1; Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes cytoplasmic microtubule nucleation and elongation. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. Also acts as a regulator of minus-end microtubule organization: interacts with the complex formed by AKAP9 and PDE4DIP, leading to recruit CAMSAP2 to the Golgi apparatus, thereby tethering non-centrosomal minus-end microtubules to the Golgi, a [...]


ensembl_gene_id: ENSPPYP00000012209
symbol: EIF2S2
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 2 subunit 2; eIF-2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S preinitiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyz [...]


ensembl_gene_id: ENSPPYP00000012226
symbol: EIF6
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 6; Binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit to form the 80S initiation complex in the cytoplasm. Behaves as a stimulatory translation initiation factor downstream insulin/growth factors. Is also involved in ribosome biogenesis. Associates with pre-60S subunits in the nucleus and is involved in its nuclear export. Cytoplasmic release of TIF6 from 60S subunits and nuclear relocalization is promoted by a RACK1 (RACK1)- dependent protein kinase C activity. In tissues responsive to insulin, contro [...]


ensembl_gene_id: ENSPPYP00000012233
symbol: ERGIC3
gene_biotype: protein_coding
description:
  Endoplasmic reticulum-Golgi intermediate compartment protein 3; Possible role in transport between endoplasmic reticulum and Golgi.


ensembl_gene_id: ENSPPYP00000012238
symbol: NFS1
gene_biotype: protein_coding
description:
  Cysteine desulfurase, mitochondrial; Catalyzes the removal of elemental sulfur from cysteine to produce alanine. It supplies the inorganic sulfur for iron-sulfur (Fe- S) clusters. May be involved in the biosynthesis of molybdenum cofactor (By similarity); Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. NifS/IscS subfamily.


ensembl_gene_id: ENSPPYP00000012240
symbol: RBM39
gene_biotype: protein_coding
description:
  RNA-binding protein 39; Transcriptional coactivator for steroid nuclear receptors ESR1/ER-alpha and ESR2/ER-beta, and JUN/AP-1 (By similarity). May be involved in pre-mRNA splicing process.


ensembl_gene_id: ENSPPYP00000012249
symbol: AAR2
gene_biotype: protein_coding
description:
  Protein AAR2 homolog; Component of the U5 snRNP complex that is required for spliceosome assembly and for pre-mRNA splicing. Belongs to the AAR2 family.


ensembl_gene_id: ENSPPYP00000012253
symbol: MYL9
gene_biotype: protein_coding
description:
  Myosin regulatory light polypeptide 9; Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion.


ensembl_gene_id: ENSPPYP00000012266
symbol: RPN2
gene_biotype: protein_coding
description:
  Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2; 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 en [...]


ensembl_gene_id: ENSPPYP00000012271
symbol: BLCAP
gene_biotype: protein_coding
description:
  Bladder cancer-associated protein; May regulate cell proliferation and coordinate apoptosis and cell cycle progression via a novel mechanism independent of both p53/TP53 and NF-kappa-B; Belongs to the BLCAP family.


ensembl_gene_id: ENSPPYP00000012296
symbol: TOP1
gene_biotype: protein_coding
description:
  DNA topoisomerase I; Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at the specific target site 5'-[CT]CCTTp site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus r [...]


ensembl_gene_id: ENSPPYP00000012323
symbol: SERINC3
gene_biotype: protein_coding
description:
  Serine incorporator 3; Restriction factor required to restrict infectivity of gammaretroviruses: acts by inhibiting early step of viral infection and impairing the ability of the viral particle to translocate its content to the cytoplasm.


ensembl_gene_id: ENSPPYP00000012330
symbol: YWHAB
gene_biotype: protein_coding
description:
  14-3-3 protein beta/alpha, 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. Negative regulator of osteogenesis. Blocks the nuclear translocation of the phosphorylated form (by AKT1) of SRPK2 and antagonizes its stimulatory effect on cyclin D1 expression resulting in blockage of neuronal apoptosis elicited by  [...]


ensembl_gene_id: ENSPPYP00000012334
symbol: TOMM34
gene_biotype: protein_coding
description:
  Mitochondrial import receptor subunit TOM34; Plays a role in the import of cytosolically synthesized preproteins into mitochondria. Binds the mature portion of precursor proteins. Interacts with cellular components, and possesses weak ATPase activity. May be a chaperone-like protein that helps to keep newly synthesized precursors in an unfolded import compatible state (By similarity).


ensembl_gene_id: ENSPPYP00000012337
symbol: KCNS1
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel subfamily S member 1; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1 and KCNB2; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 and KCNB2. Belongs to the potassium channel family. S (TC 1.A.1.2) subfamily. Kv9.1/KCNS1 sub-subfamily.


ensembl_gene_id: ENSPPYP00000012340
symbol: WFDC12
gene_biotype: protein_coding
description:
  WAP four-disulfide core domain protein 12; Antibacterial protein. Putative acid-stable proteinase inhibitor (By similarity).


ensembl_gene_id: ENSPPYP00000012344
symbol: SEMG2
gene_biotype: protein_coding
description:
  Semenogelin-2; Participates in the formation of a gel matrix (sperm coagulum) entrapping the accessory gland secretions and ejaculated spermatozoa.


ensembl_gene_id: ENSPPYP00000012352
symbol: SDC4
gene_biotype: protein_coding
description:
  Syndecan-4; Cell surface proteoglycan that bears heparan sulfate. Regulates exosome biogenesis in concert with SDCBP and PDCD6IP. Belongs to the syndecan proteoglycan family.


ensembl_gene_id: ENSPPYP00000012369
symbol: DNTTIP1
gene_biotype: protein_coding
description:
  Deoxynucleotidyltransferase terminal-interacting protein 1; Increases DNTT terminal deoxynucleotidyltransferase activity (in vitro). Also acts as a transcriptional regulator, binding to the consensus sequence 5'-GNTGCATG-3' following an AT-tract. Associates with RAB20 promoter and positively regulates its transcription. Binds DNA and nucleosomes; may recruit HDAC1 complexes to nucleosomes or naked DNA.


ensembl_gene_id: ENSPPYP00000012394
symbol: ELMO2
gene_biotype: protein_coding
description:
  Engulfment and cell motility protein 2; Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1 (By similarity).


ensembl_gene_id: ENSPPYP00000012399
symbol: ZNF334
gene_biotype: protein_coding
description:
  Zinc finger protein 334; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000012402
symbol: SLC2A10
gene_biotype: protein_coding
description:
  SLC2A10 isoform 1; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPPYP00000012409
symbol: CR201_G0038316
gene_biotype: protein_coding
description:
  Extracellular sulfatase; Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity. It can remove sulfate from the C- 6 position of glucosamine within specific subregions of intact heparin. Belongs to the sulfatase family.


ensembl_gene_id: ENSPPYP00000012422
symbol: PTGIS
gene_biotype: protein_coding
description:
  Prostacyclin synthase; Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2); Belongs to the cytochrome P450 family.


ensembl_gene_id: ENSPPYP00000012429
symbol: TMEM189-UBE2V1
gene_biotype: protein_coding
description:
  Ubiquitin-conjugating enzyme E2 variant 1; Has no ubiquitin ligase activity on its own. The UBE2V1-UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through 'Lys-63'. This type of poly- ubiquitination activates IKK and does not seem to involve protein degradation by the proteasome. Plays a role in the activation of NF- kappa-B mediated by IL1B, TNF, TRAF6 and TRAF2. 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 repa [...]


ensembl_gene_id: ENSPPYP00000012438
symbol: DPM1
gene_biotype: protein_coding
description:
  Dolichol-phosphate mannosyltransferase subunit 1; Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins.


ensembl_gene_id: ENSPPYP00000012439
symbol: MOCS3
gene_biotype: protein_coding
description:
  Adenylyltransferase and sulfurtransferase MOCS3; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Also essential during biosynthesis of the molybdenum cofactor. Acts by mediating the C-terminal thiocarboxylation of sulfur carriers URM1 and MOCS2A. Its N-terminus first activates URM1 and MOCS2A as acyl- adenylates (-COAMP), then the persulfide sulfur on the catalytic cysteine is transferred to URM1 and MOCS2A to form thiocarboxylation (- COSH) of their C-terminus. The reaction probably involves hydrogen sulfide [...]


ensembl_gene_id: ENSPPYP00000012440
symbol: KCNG1
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily G member 1; Belongs to the potassium channel family.


ensembl_gene_id: ENSPPYP00000012459
symbol: RTF2
gene_biotype: protein_coding
description:
  Replication termination factor 2; Replication termination factor which is a component of the elongating replisome. Required for ATR pathway signaling upon DNA damage and has a positive activity during DNA replication. Might function to facilitate fork pausing at replication fork barriers like the rDNA. May be globally required to stimulate ATR signaling after the fork stalls or encounters a lesion. Interacts with nascent DNA. Belongs to the rtf2 family.


ensembl_gene_id: ENSPPYP00000012468
symbol: RAE1
gene_biotype: protein_coding
description:
  mRNA export factor; Plays a role in mitotic bipolar spindle formation. Binds mRNA. May function in nucleocytoplasmic transport and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton.


ensembl_gene_id: ENSPPYP00000012471
symbol: PCK1
gene_biotype: protein_coding
description:
  Phosphoenolpyruvate carboxykinase, cytosolic [GTP]; Regulates cataplerosis and anaplerosis, the processes that control the levels of metabolic intermediates in the citric acid cycle. At low glucose levels, it catalyzes the cataplerotic conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle. At high glucose levels, it catalyzes the anaplerotic conversion of phosphoenolpyruvate to oxaloacetate.


ensembl_gene_id: ENSPPYP00000012484
symbol: NPEPL1
gene_biotype: protein_coding
description:
  Probable aminopeptidase NPEPL1; Probably catalyzes the removal of unsubstituted N-terminal amino acids from various peptides; Belongs to the peptidase M17 family.


ensembl_gene_id: ENSPPYP00000012488
symbol: NELFCD
gene_biotype: protein_coding
description:
  Negative elongation factor D; Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II (By similarity). The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex (By similarity).


ensembl_gene_id: ENSPPYP00000012509
symbol: PSMA7
gene_biotype: protein_coding
description:
  Proteasome subunit alpha type-7; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pr [...]


ensembl_gene_id: ENSPPYP00000012513
symbol: MTG2
gene_biotype: protein_coding
description:
  Mitochondrial ribosome-associated GTPase 2; Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays GTPase activity. Involved in the ribosome maturation process (By similarity). Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family.


ensembl_gene_id: ENSPPYP00000012561
symbol: STMN3
gene_biotype: protein_coding
description:
  Stathmin-3; Exhibits microtubule-destabilizing activity, which is antagonized by STAT3; Belongs to the stathmin family.


ensembl_gene_id: ENSPPYP00000012562
symbol: RTEL1
gene_biotype: protein_coding
description:
  Regulator of telomere elongation helicase 1; ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by  [...]


ensembl_gene_id: ENSPPYP00000012564
symbol: ARFRP1
gene_biotype: protein_coding
description:
  ADP-ribosylation factor-related protein 1; Trans-Golgi-associated GTPase that regulates protein sorting. Controls the targeting of ARL1 and its effector to the trans-Golgi. Required for the lipidation of chylomicrons in the intestine and required for VLDL lipidation in the liver.


ensembl_gene_id: ENSPPYP00000012574
symbol: PRPF6
gene_biotype: protein_coding
description:
  Pre-mRNA-processing factor 6; Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation.


ensembl_gene_id: ENSPPYP00000012617
symbol: CXADR
gene_biotype: protein_coding
description:
  Coxsackievirus and adenovirus receptor homolog; Component of the epithelial apical junction complex that may function as a homophilic cell adhesion molecule and is essential for tight junction integrity. Also involved in transepithelial migration of leukocytes through adhesive interactions with JAML a transmembrane protein of the plasma membrane of leukocytes. The interaction between both receptors also mediates the activation of gamma-delta T-cells, a subpopulation of T-cells residing in epithelia and involved in tissue homeostasis and repair. Upon epithelial CXADR-binding, JAML induc [...]


ensembl_gene_id: ENSPPYP00000012627
symbol: ATP5PF
gene_biotype: protein_coding
description:
  ATP synthase-coupling factor 6, 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 t [...]


ensembl_gene_id: ENSPPYP00000012640
symbol: USP16
gene_biotype: protein_coding
description:
  Ubiquitin carboxyl-terminal hydrolase 16; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes.


ensembl_gene_id: ENSPPYP00000012641
symbol: CCT8
gene_biotype: protein_coding
description:
  T-complex protein 1 subunit theta; 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: ENSPPYP00000012676
symbol: SOD1
gene_biotype: protein_coding
description:
  Superoxide dismutase [Cu-Zn]; Destroys radicals which are normally produced within the cells and which are toxic to biological systems. Belongs to the Cu-Zn superoxide dismutase family.


ensembl_gene_id: ENSPPYP00000012701
symbol: GART
gene_biotype: protein_coding
description:
  Trifunctional purine biosynthetic protein adenosine-3; In the C-terminal section; belongs to the GART family.  In the central section; belongs to the AIR synthase family.


ensembl_gene_id: ENSPPYP00000012709
symbol: ATP5PO
gene_biotype: protein_coding
description:
  ATP synthase subunit O, 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: ENSPPYP00000012714
symbol: KCNE1
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel subfamily E member 1; Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with K [...]


ensembl_gene_id: ENSPPYP00000012717
symbol: RCAN1
gene_biotype: protein_coding
description:
  Calcipressin-1; Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development.


ensembl_gene_id: ENSPPYP00000012724
symbol: CBR1
gene_biotype: protein_coding
description:
  Carbonyl reductase [NADPH] 1; NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthracyclines doxorubicin and daunorubicin to the cardiotoxic compounds doxorubicinol and daunorubicinol. Can convert prostaglandin E2 to prostaglandin F2- alpha. Can bind glutathione, which explains its higher affinity for glutathione-conjugated substrates. Catalyzes the reduction of S- nitrosoglutathione (By similarity) [...]


ensembl_gene_id: ENSPPYP00000012734
symbol: PIGP
gene_biotype: protein_coding
description:
  Phosphatidylinositol N-acetylglucosaminyltransferase subunit P; Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.


ensembl_gene_id: ENSPPYP00000012737
symbol: VPS26C
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 26C; Acts as component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes. In the endosomes, drives the retriever and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of nu [...]


ensembl_gene_id: ENSPPYP00000012750
symbol: PSMG1
gene_biotype: protein_coding
description:
  Proteasome assembly chaperone 1; Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with psmg2.


ensembl_gene_id: ENSPPYP00000012754
symbol: GET1
gene_biotype: protein_coding
description:
  Tail-anchored protein insertion receptor WRB; Receptor for ASNA1/TRC40-mediated insertion of tail-anchored (TA) proteins into the ER membrane.


ensembl_gene_id: ENSPPYP00000012763
symbol: MX2
gene_biotype: protein_coding
description:
  MX dynamin like GTPase 2; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPPYP00000012765
symbol: MX1
gene_biotype: protein_coding
description:
  Interferon-induced GTP-binding protein Mx1; Interferon-induced dynamin-like GTPase with antiviral activity.


ensembl_gene_id: ENSPPYP00000012793
symbol: WDR4
gene_biotype: protein_coding
description:
  tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4; Required for the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA. In the complex, it is required to stabilize and induce conformational changes of the catalytic subunit. Belongs to the WD repeat TRM82 family.


ensembl_gene_id: ENSPPYP00000012801
symbol: LOC100460863
gene_biotype: protein_coding
description:
  CRYAA isoform 1; May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions.


ensembl_gene_id: ENSPPYP00000012813
symbol: AGPAT3
gene_biotype: protein_coding
description:
  1-acyl-sn-glycerol-3-phosphate acyltransferase gamma; 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). Acts on LPA containing saturated or unsaturated fatty acids C16:0-C20:4 at the sn-1 position using C18:1, C20:4 or C18:2-CoA as the acyl donor (By similarity). Also acts on lysophosphatidylcholine, lysophosphatidylinositol and lysophosphatidylserine using C18:1 or C20:4-CoA. Has a preference for arachidon [...]


ensembl_gene_id: ENSPPYP00000012821
symbol: PFKL
gene_biotype: protein_coding
description:
  ATP-dependent 6-phosphofructokinase, liver type; Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis (By similarity). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by controlling cellular NADPH biosynthesis and NADPH oxidase-derived reactive oxygen species. Upon macrophage activation, drives the metabolic switch toward glycolysis, thus preventing glucose turnover that produces NADPH via pentose phosphate pathway (By similarity). Belongs to the phosphofructokinase typ [...]


ensembl_gene_id: ENSPPYP00000012839
symbol: UBE2G2
gene_biotype: protein_coding
description:
  Ubiquitin-conjugating enzyme E2 G2; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'- linked polyubiquitination. Involved in endoplasmic reticulum-associated degradation (ERAD).


ensembl_gene_id: ENSPPYP00000012842
symbol: PTTG1IP
gene_biotype: protein_coding
description:
  Pituitary tumor-transforming gene 1 protein-interacting protein; May facilitate PTTG1 nuclear translocation.


ensembl_gene_id: ENSPPYP00000012877
symbol: PRMT2
gene_biotype: protein_coding
description:
  PRMT2 isoform 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSPPYP00000012893
symbol: KCNJ6
gene_biotype: protein_coding
description:
  G protein-activated inward rectifier potassium channel 2; This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G- protein-coupled receptors. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due t [...]


ensembl_gene_id: ENSPPYP00000012920
symbol: SEPT5
gene_biotype: protein_coding
description:
  SEPT5 isoform 6; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPPYP00000012926
symbol: COMT
gene_biotype: protein_coding
description:
  Catechol O-methyltransferase; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones.


ensembl_gene_id: ENSPPYP00000012931
symbol: TRMT2A
gene_biotype: protein_coding
description:
  TRMT2A isoform 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA M5U methyltransferase family.


ensembl_gene_id: ENSPPYP00000012939
symbol: MED15
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 15; 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: ENSPPYP00000012943
symbol: UBE2L3
gene_biotype: protein_coding
description:
  Ubiquitin-conjugating enzyme E2 L3; Ubiquitin-conjugating enzyme E2 that specifically acts with HECT-type and RBR family E3 ubiquitin-protein ligases. Does not function with most RING-containing E3 ubiquitin-protein ligases because it lacks intrinsic E3-independent reactivity with lysine: in contrast, it has activity with the RBR family E3 enzymes, such as PRKN and ARIH1, that function like function like RING-HECT hybrids. Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'-linked polyubiquitination. Involved in the [...]


ensembl_gene_id: ENSPPYP00000012976
symbol: SMARCB1
gene_biotype: protein_coding
description:
  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1; Belongs to the SNF5 family.


ensembl_gene_id: ENSPPYP00000012977
symbol: DERL3
gene_biotype: protein_coding
description:
  Derlin; 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; Belongs to the derlin family.


ensembl_gene_id: ENSPPYP00000012992
symbol: UPB1
gene_biotype: protein_coding
description:
  Beta-ureidopropionase; Catalyzes a late step in pyrimidine degradation. Converts N- carbamoyl-beta-alanine (3-ureidopropanoate) into beta-alanine, ammonia and carbon dioxide. Likewise, converts N-carbamoyl-beta- aminoisobutyrate (3-ureidoisobutyrate) into beta-aminoisobutyrate, ammonia and carbon dioxide; Belongs to the carbon-nitrogen hydrolase superfamily. BUP family.


ensembl_gene_id: ENSPPYP00000012995
symbol: SNRPD3
gene_biotype: protein_coding
description:
  Small nuclear ribonucleoprotein Sm D3; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. As part of the U7 snRNP it is involved in histone pre-mRNA 3'-end processing.


ensembl_gene_id: ENSPPYP00000013013
symbol: TFIP11
gene_biotype: protein_coding
description:
  Tuftelin-interacting protein 11; Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. Intron turnover seems to proceed through reactions in two lariat-intron associated complexes termed Intron Large (IL) and Intron Small (IS). In cooperation with DHX15 seems to mediate the transition of the U2, U5 and U6 snRNP- containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extrac [...]


ensembl_gene_id: ENSPPYP00000013014
symbol: TPST2
gene_biotype: protein_coding
description:
  Protein-tyrosine sulfotransferase; Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3'-phosphoadenylyl sulfate (PAPS) as cosubstrate; Belongs to the protein sulfotransferase family.


ensembl_gene_id: ENSPPYP00000013019
symbol: PITPNB
gene_biotype: protein_coding
description:
  Phosphatidylinositol transfer protein beta isoform; Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes; Belongs to the PtdIns transfer protein family. PI transfer class I subfamily.


ensembl_gene_id: ENSPPYP00000013058
symbol: CASTOR1
gene_biotype: protein_coding
description:
  Cytosolic arginine sensor for mTORC1 subunit 1; Functions as an intracellular arginine sensor within the amino acid-sensing branch of the TORC1 signaling pathway. As a homodimer or a heterodimer with CASTOR2, binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1. Binding of arginine to CASTOR1 allosterically disrupts the interaction of CASTOR1-containing dimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway; Belongs to the GATS family.


ensembl_gene_id: ENSPPYP00000013069
symbol: PES1
gene_biotype: protein_coding
description:
  Pescadillo homolog; Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome; Belongs to the pescadillo family.


ensembl_gene_id: ENSPPYP00000013073
symbol: DUSP18
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase 18; Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine. In vitro, dephosphorylates p-nitrophenyl phosphate (pNPP).


ensembl_gene_id: ENSPPYP00000013084
symbol: RNF185
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RNF185; E3 ubiquitin-protein ligase that regulates selective mitochondrial autophagy by mediating 'Lys-63'-linked polyubiquitination of BNIP1. Acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation. Protects cells from ER stress-induced apoptosis. Responsible for the cotranslational ubiquitination and degradation of CFTR in the ERAD pathway. Preferentially associates with the E2 enzymes UB [...]


ensembl_gene_id: ENSPPYP00000013087
symbol: PIK3IP1
gene_biotype: protein_coding
description:
  Phosphoinositide-3-kinase-interacting protein 1; Negative regulator of hepatic phosphatidylinositol 3-kinase (PI3K) activity.


ensembl_gene_id: ENSPPYP00000013093
symbol: PISD
gene_biotype: protein_coding
description:
  Phosphatidylserine decarboxylase proenzyme, mitochondrial; Catalyzes the formation of phosphatidylethanolamine (PtdEtn) from phosphatidylserine (PtdSer). Plays a central role in phospholipid metabolism and in the interorganelle trafficking of phosphatidylserine.


ensembl_gene_id: ENSPPYP00000013101
symbol: YWHAH
gene_biotype: protein_coding
description:
  Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta; Belongs to the 14-3-3 family.


ensembl_gene_id: ENSPPYP00000013109
symbol: RTCB
gene_biotype: protein_coding
description:
  RNA-splicing ligase RtcB homolog; Catalytic subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3',5'-phosphodiester. May act as an RNA ligase with broad substrate specificity, and may function toward other RNAs.


ensembl_gene_id: ENSPPYP00000013121
symbol: HMOX1
gene_biotype: protein_coding
description:
  Heme oxygenase 1; Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Exhibits cytoprotective effects since excess of free heme sensitizes cells to undergo apoptosis.


ensembl_gene_id: ENSPPYP00000013137
symbol: EIF3D
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit D; mRNA cap-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, a complex required for several steps in the initiation of protein synthesis of a specialized repertoire of mRNAs. 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  [...]


ensembl_gene_id: ENSPPYP00000013139
symbol: CACNG2
gene_biotype: protein_coding
description:
  Voltage-dependent calcium channel gamma-2 subunit; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state; Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.


ensembl_gene_id: ENSPPYP00000013165
symbol: H1F0
gene_biotype: protein_coding
description:
  Histone H1.0, N-terminally processed; Histones H1 are necessary for the condensation of nucleosome chains into higher-order structures. The histones H1.0 are found in cells that are in terminal stages of differentiation or that have low rates of cell division (By similarity).


ensembl_gene_id: ENSPPYP00000013173
symbol: POLR2F
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerases I, II, and III subunit RPABC2; DNA-dependent RNA polymerases catalyze the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non- coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2F/RPB6 is part of the [...]


ensembl_gene_id: ENSPPYP00000013176
symbol: PICK1
gene_biotype: protein_coding
description:
  PRKCA-binding protein; Probable adapter protein that bind to and organize the subcellular localization of a variety of membrane proteins containing some PDZ recognition sequence. Involved in the clustering of various receptors, possibly by acting at the receptor internalization level. Plays a role in synaptic plasticity by regulating the trafficking and internalization of AMPA receptors. May be regulated upon PRKCA activation. May regulate ASIC1/ASIC3 channel. Regulates actin polymerization by inhibiting the actin-nucleating activity of the Arp2/3 complex; the function is competetive w [...]


ensembl_gene_id: ENSPPYP00000013188
symbol: DMC1
gene_biotype: protein_coding
description:
  Meiotic recombination protein; May participate in meiotic recombination, specifically in homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks; Belongs to the RecA family. DMC1 subfamily.


ensembl_gene_id: ENSPPYP00000013191
symbol: JOSD1
gene_biotype: protein_coding
description:
  Josephin-1; Deubiquitinates monoubiquitinated probes (in vitro). When ubiquitinated, cleaves 'Lys-63'-linked and 'Lys-48'-linked poly- ubiquitin chains (in vitro), hence may act as a deubiquitinating enzyme. May increase macropinocytosis and suppress clathrin- and caveolae-mediated endocytosis. May enhance membrane dynamics and cell motility independently of its catalytic activity (By similarity).


ensembl_gene_id: ENSPPYP00000013193
symbol: GTPBP1
gene_biotype: protein_coding
description:
  GTP-binding protein 1; Promotes degradation of target mRNA species. Plays a role in the regulation of circadian mRNA stability. Binds GTP and has GTPase activity (By similarity).


ensembl_gene_id: ENSPPYP00000013210
symbol: SYNGR1
gene_biotype: protein_coding
description:
  Synaptogyrin-1; May play a role in regulated exocytosis. Modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in synaptic-like microvesicle formation and/or maturation (By similarity). Involved in the regulation of short- term and long-term synaptic plasticity (By similarity). Belongs to the synaptogyrin family.


ensembl_gene_id: ENSPPYP00000013232
symbol: ST13
gene_biotype: protein_coding
description:
  Hsc70-interacting protein; One HIP oligomer binds the ATPase domains of at least two HSC70 molecules dependent on activation of the HSC70 ATPase by HSP40. Stabilizes the ADP state of HSC70 that has a high affinity for substrate protein. Through its own chaperone activity, it may contribute to the interaction of HSC70 with various target proteins (By similarity).


ensembl_gene_id: ENSPPYP00000013233
symbol: XPNPEP3
gene_biotype: protein_coding
description:
  Xaa-Pro aminopeptidase 3; Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Leu-Pro-Ala. Also shows low activity towards peptides with Ala or Ser at the P1 position. Promotes TNFRSF1B- mediated phosphorylation of MAPK8/JNK1 and MAPK9/JNK2, suggesting a function as an adapter protein for TNFRSF1B; the effect is independent of XPNPEP3 peptidase activity. May inhibit apoptotic cell death induced via TNF-TNFRSF1B signaling.


ensembl_gene_id: ENSPPYP00000013237
symbol: L3MBTL2
gene_biotype: protein_coding
description:
  Lethal(3)malignant brain tumor-like protein 2; Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Its association with a chromatin-remodeling complex suggests that it may contribute to prevent expression of genes that trigger the cell into mitosis. Binds to monomethylated and dimethylated 'Lys-20' on histone H4. Binds histone H3 peptides that are monomethylated or dimethylated on 'Lys-4', 'Lys-9' or 'Lys-27' (By similarity).


ensembl_gene_id: ENSPPYP00000013255
symbol: SNU13
gene_biotype: protein_coding
description:
  Ribonucloprotein; Common component of the spliceosome and rRNA processing machinery; Belongs to the eukaryotic ribosomal protein eL8 family.


ensembl_gene_id: ENSPPYP00000013264
symbol: SEPT3
gene_biotype: protein_coding
description:
  SEPT3 isoform 1; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPPYP00000013284
symbol: ARFGAP3
gene_biotype: protein_coding
description:
  ADP-ribosylation factor GTPase-activating protein 3; GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes (By similarity).


ensembl_gene_id: ENSPPYP00000013297
symbol: EFCAB6
gene_biotype: protein_coding
description:
  EF-hand calcium-binding domain-containing protein 6; Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex.


ensembl_gene_id: ENSPPYP00000013321
symbol: FBLN1
gene_biotype: protein_coding
description:
  Fibulin-1; Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supramolecular organization of ECM architecture, in particular to those of basement membranes.


ensembl_gene_id: ENSPPYP00000013323
symbol: ATXN10
gene_biotype: protein_coding
description:
  Ataxin-10; Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis.


ensembl_gene_id: ENSPPYP00000013334
symbol: TRMU
gene_biotype: protein_coding
description:
  Mitochondrial tRNA-specific 2-thiouridylase 1; Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base. Belongs to the MnmA/TRMU family.


ensembl_gene_id: ENSPPYP00000013354
symbol: PIM3
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase; Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PIM subfamily.


ensembl_gene_id: ENSPPYP00000013374
symbol: CR201_G0044507
gene_biotype: protein_coding
description:
  Lipase maturation factor; Involved in the maturation of specific proteins in the endoplasmic reticulum; Belongs to the lipase maturation factor family.


ensembl_gene_id: ENSPPYP00000013385
symbol: RABL2B
gene_biotype: protein_coding
description:
  Rab-like protein 2A; Plays an essential role in male fertility, sperm intra- flagellar transport, and tail assembly. Binds, in a GTP-regulated manner, to a specific set of effector proteins including key proteins involved in cilia development and function and delivers them into the growing sperm tail; Belongs to the small GTPase superfamily. Rab family.


ensembl_gene_id: ENSPPYP00000013412
symbol: SNAP29
gene_biotype: protein_coding
description:
  Synaptosomal-associated protein 29; SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. SNAP29 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane. Plays also a role in ciliogenesis by regulating membrane fusions.


ensembl_gene_id: ENSPPYP00000013416
symbol: LZTR1
gene_biotype: protein_coding
description:
  Leucine-zipper-like transcriptional regulator 1; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras (K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS). Is a negative regulator of RAS-MAPK signaling that acts by controlling Ras levels and decreasing Ras association with membranes.


ensembl_gene_id: ENSPPYP00000013435
symbol: MB
gene_biotype: protein_coding
description:
  Myoglobin; Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.


ensembl_gene_id: ENSPPYP00000013439
symbol: ZNF2
gene_biotype: protein_coding
description:
  Zinc finger protein 2; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000013454
symbol: CIAO1
gene_biotype: protein_coding
description:
  Probable cytosolic iron-sulfur protein assembly protein CIAO1; Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. Seems to specifically modulate the transactivation activity of WT1. As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation; Belongs to the WD repeat CIA1 family.


ensembl_gene_id: ENSPPYP00000013458
symbol: NCAPH
gene_biotype: protein_coding
description:
  Condensin complex subunit 2; Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes.


ensembl_gene_id: ENSPPYP00000013465
symbol: LMAN2L
gene_biotype: protein_coding
description:
  VIP36-like protein; May be involved in the regulation of export from the endoplasmic reticulum of a subset of glycoproteins. May function as a regulator of ERGIC-53 (By similarity).


ensembl_gene_id: ENSPPYP00000013467
symbol: COX5B
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 5B, 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: ENSPPYP00000013474
symbol: COA5
gene_biotype: protein_coding
description:
  Cytochrome c oxidase assembly factor 5; Involved in an early step of the mitochondrial complex IV assembly process.


ensembl_gene_id: ENSPPYP00000013476
symbol: MGAT4A
gene_biotype: protein_coding
description:
  Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A soluble form; Glycosyltransferase that participates in the transfer of N- acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains. Involved in glucose transport by mediating SLC2A2/GLUT2 glycosylation, thereby controlling cell-surface expression of SLC2A2 in pancreatic beta cells (By sim [...]


ensembl_gene_id: ENSPPYP00000013483
symbol: EIF5B
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 5B; Plays a role in translation initiation. Translational GTPase that catalyzes the joining of the 40S and 60S subunits to form the 80S initiation complex with the initiator methionine-tRNA in the P-site base paired to the start codon. GTP binding and hydrolysis induces conformational changes in the enzyme that renders it active for productive interactions with the ribosome. The release of the enzyme after formation of the initiation complex is a prerequisite to form elongation-competent ribosomes.


ensembl_gene_id: ENSPPYP00000013486
symbol: REV1
gene_biotype: protein_coding
description:
  DNA repair protein REV1; Deoxycytidyl transferase involved in DNA repair. Transfers a dCMP residue from dCTP to the 3'-end of a DNA primer in a template- dependent reaction. May assist in the first step in the bypass of abasic lesions by the insertion of a nucleotide opposite the lesion. Required for normal induction of mutations by physical and chemical agents (By similarity); Belongs to the DNA polymerase type-Y family.


ensembl_gene_id: ENSPPYP00000013489
symbol: CHST10
gene_biotype: protein_coding
description:
  Carbohydrate sulfotransferase 10; Catalyzes the transfer of sulfate to position 3 of terminal glucuronic acid of both protein- and lipid-linked oligosaccharides. Participates in biosynthesis of HNK-1 carbohydrate structure, a sulfated glucuronyl-lactosaminyl residue carried by many neural recognition molecules, which is involved in cell interactions during ontogenetic development and in synaptic plasticity in the adult. May be indirectly involved in synapse plasticity of the hippocampus, via its role in HNK-1 biosynthesis (By similarity); Belongs to the sulfotransferase 2 family.


ensembl_gene_id: ENSPPYP00000013491
symbol: PDCL3
gene_biotype: protein_coding
description:
  Phosducin-like protein 3; Acts as a chaperone for the angiogenic VEGF receptor KDR/VEGFR2, increasing its abundance by inhibiting its ubiquitination and degradation (By similarity). Inhibits the folding activity of the chaperonin-containing T-complex (CCT) which leads to inhibition of cytoskeletal actin folding (By similarity). Acts as a chaperone during heat shock alongside HSP90 and HSP40/70 chaperone complexes (By similarity). Modulates the activation of caspases during apoptosis (By similarity); Belongs to the phosducin family.


ensembl_gene_id: ENSPPYP00000013525
symbol: UXS1
gene_biotype: protein_coding
description:
  UDP-glucuronic acid decarboxylase 1; Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose. Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis (By similarity). Belongs to the NAD(P)-dependent epimerase/dehydratase family. UDP-glucuronic acid decarboxylase subfamily.


ensembl_gene_id: ENSPPYP00000013534
symbol: LIMS1
gene_biotype: protein_coding
description:
  LIM and senescent cell antigen-like-containing domain protein; Adapter protein in a cytoplasmic complex linking beta- integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors.


ensembl_gene_id: ENSPPYP00000013540
symbol: SEPTIN10
gene_biotype: protein_coding
description:
  Septin-10; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).


ensembl_gene_id: ENSPPYP00000013566
symbol: POLR1B
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase I subunit RPA2; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol I is composed of mobile elements and RPA2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity).


ensembl_gene_id: ENSPPYP00000013569
symbol: SLC20A1
gene_biotype: protein_coding
description:
  Sodium-dependent phosphate transporter 1; Sodium-phosphate symporter which plays a fundamental housekeeping role in phosphate transport, such as absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. May play a role in extracellular matrix and cartilage calcification as well as in vascular calcification (By similarity); Belongs to the inorganic phosphate transporter (PiT) (TC 2.A.20) family.


ensembl_gene_id: ENSPPYP00000013573
symbol: IL1B
gene_biotype: protein_coding
description:
  Multifunctional fusion protein; Potent proinflammatory cytokine. Initially discovered as the major endogenous pyrogen, induces prostaglandin synthesis, neutrophil influx and activation, T-cell activation and cytokine production, B- cell activation and antibody production, and fibroblast proliferation and collagen production; Belongs to the IL-1 family.


ensembl_gene_id: ENSPPYP00000013583
symbol: PAX8
gene_biotype: protein_coding
description:
  Paired box protein Pax-8; Thought to encode a transcription factor. It may have a role in kidney cell differentiation. May play a regulatory role in mammalian development (By similarity).


ensembl_gene_id: ENSPPYP00000013604
symbol: THNSL2
gene_biotype: protein_coding
description:
  Threonine synthase-like 2; Acts as a catabolic phospho-lyase on both gamma- and beta- phosphorylated substrates. Degrades O-phospho-threonine (PThr) to alpha-ketobutyrate, ammonia and phosphate (By similarity). Belongs to the threonine synthase family.


ensembl_gene_id: ENSPPYP00000013615
symbol: CHMP3
gene_biotype: protein_coding
description:
  Charged multivesicular body protein 3; Probable core 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 sequential function [...]


ensembl_gene_id: ENSPPYP00000013620
symbol: CR201_G0049473
gene_biotype: protein_coding
description:
  MICOS complex subunit MIC60; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane.


ensembl_gene_id: ENSPPYP00000013622
symbol: PTCD3
gene_biotype: protein_coding
description:
  Pentatricopeptide repeat domain-containing protein 3, mitochondrial; Mitochondrial RNA-binding protein that has a role in mitochondrial translation.


ensembl_gene_id: ENSPPYP00000013631
symbol: USP39
gene_biotype: protein_coding
description:
  U4/U6.U5 tri-snRNP-associated protein 2; Plays a role in pre-mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the precatalytic spliceosome. Regulates AURKB mRNA levels, and thereby plays a role in cytokinesis and in the spindle checkpoint. Does not have ubiquitin- specific peptidase activity.


ensembl_gene_id: ENSPPYP00000013635
symbol: VAMP8
gene_biotype: protein_coding
description:
  Vesicle-associated membrane protein 8; SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. VAMP8 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane via its interaction with the STX17-SNAP29 binary t- SNARE complex. Also required for dense-granule secretion in platelets. Plays als [...]


ensembl_gene_id: ENSPPYP00000013637
symbol: GGCX
gene_biotype: protein_coding
description:
  Vitamin K-dependent gamma-carboxylase; Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide.


ensembl_gene_id: ENSPPYP00000013638
symbol: MAT2A
gene_biotype: protein_coding
description:
  S-adenosylmethionine synthase isoform type-2; Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the triphosphate; Belongs to the AdoMet synthase family.


ensembl_gene_id: ENSPPYP00000013647
symbol: TMSB10
gene_biotype: protein_coding
description:
  Thymosin beta; 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: ENSPPYP00000013652
symbol: SUCLG1
gene_biotype: protein_coding
description:
  Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial; Succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of either ATP or GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The alpha subunit of the enzyme binds the substrates coenzyme A and phosphate, while succinate binding and specificity for either ATP or GTP is provided by different beta subunits.


ensembl_gene_id: ENSPPYP00000013655
symbol: CTNNA2
gene_biotype: protein_coding
description:
  Catenin alpha-2; May function as a linker between cadherin adhesion receptors and the cytoskeleton to regulate cell-cell adhesion and differentiation in the nervous system. Required for proper regulation of cortical neuronal migration and neurite growth. It acts as negative regulator of Arp2/3 complex activity and Arp2/3-mediated actin polymerization. It thereby suppresses excessive actin branching which would impair neurite growth and stability. Regulates morphological plasticity of synapses and cerebellar and hippocampal lamination during development. Functions in the control of star [...]


ensembl_gene_id: ENSPPYP00000013698
symbol: MOB1A
gene_biotype: protein_coding
description:
  MOB kinase activator 1A; Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellu [...]


ensembl_gene_id: ENSPPYP00000013712
symbol: CCT7
gene_biotype: protein_coding
description:
  T-complex protein 1 subunit eta; 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. The TRiC complex plays a role in the folding of actin and tubulin.


ensembl_gene_id: ENSPPYP00000013729
symbol: MPHOSPH10
gene_biotype: protein_coding
description:
  U3 small nucleolar ribonucleoprotein protein MPP10; Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing; Belongs to the MPP10 family.


ensembl_gene_id: ENSPPYP00000013735
symbol: ATP6V1B1
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit B, brain isoform; Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells (By similarity).


ensembl_gene_id: ENSPPYP00000013740
symbol: ADD2
gene_biotype: protein_coding
description:
  Beta-adducin; Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to the erythrocyte membrane receptor SLC2A1/GLUT1 and may therefore provide a link between the spectrin cytoskeleton to the plasma membrane. Binds to calmodulin. Calmodulin binds preferentially to the beta subunit (By similarity). Belongs to the aldolase class II family. Adducin subfamily.


ensembl_gene_id: ENSPPYP00000013745
symbol: SNRPG
gene_biotype: protein_coding
description:
  Small nuclear ribonucleoprotein G; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. As part of the U7 snRNP it is involved in histone 3'-end processing.


ensembl_gene_id: ENSPPYP00000013746
symbol: PCYOX1
gene_biotype: protein_coding
description:
  Prenylcysteine oxidase; Involved in the degradation of prenylated proteins. Cleaves the thioether bond of prenyl-L-cysteines, such as farnesylcysteine and geranylgeranylcysteine (By similarity); Belongs to the prenylcysteine oxidase family.


ensembl_gene_id: ENSPPYP00000013776
symbol: C1D
gene_biotype: protein_coding
description:
  Nuclear nucleic acid-binding protein C1D; Plays a role in the recruitment of the exosome to pre-rRNA to mediate the 3'-5' end processing of the 5.8S rRNA. Forms a multi- subunit complex with MPP6 and EXOSC10 and this complex along with MTR4 is required for the 3'-5' end processing of the 5.8S rRNA. Can activate PRKDC not only in the presence of linear DNA but also in the presence of supercoiled DNA. Can induce apoptosis in a p53/TP53 dependent manner. May regulate the TRAX/TSN complex formation. Potentiates transcriptional repression by NR1D1 and THRB (By similarity). Belongs to the C1 [...]


ensembl_gene_id: ENSPPYP00000013781
symbol: SPRED2
gene_biotype: protein_coding
description:
  Sprouty-related, EVH1 domain-containing protein 2; Negatively regulates Ras signaling pathways and downstream activation of MAP kinases.


ensembl_gene_id: ENSPPYP00000013782
symbol: ACTR2
gene_biotype: protein_coding
description:
  Actin-related protein 2; ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility. Seems to contact the pointed end of the daughter actin filament. In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. The Arp2/3 complex promote [...]


ensembl_gene_id: ENSPPYP00000013784
symbol: CEP68
gene_biotype: protein_coding
description:
  Centrosomal protein of 68 kDa; Involved in maintenance of centrosome cohesion, probably as part of a linker structure which prevents centrosome splitting. Required for localization of CDK5RAP2 to the centrosome during interphase.


ensembl_gene_id: ENSPPYP00000013807
symbol: CCT4
gene_biotype: protein_coding
description:
  T-complex protein 1 subunit delta; 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: ENSPPYP00000013832
symbol: PNPT1
gene_biotype: protein_coding
description:
  Polyribonucleotide nucleotidyltransferase 1, mitochondrial; RNA-binding protein implicated in numerous RNA metabolic processes. Catalyzes the phosphorolysis of single-stranded polyribonucleotides processively in the 3'-to-5' direction. Mitochondrial intermembrane factor with RNA-processing exoribonulease activity. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Involved in the degradation of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (By simi [...]


ensembl_gene_id: ENSPPYP00000013854
symbol: ERLEC1
gene_biotype: protein_coding
description:
  Endoplasmic reticulum lectin 1; Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non- glycosylated proteins and glycoproteins (By similarity).


ensembl_gene_id: ENSPPYP00000013860
symbol: FSHR
gene_biotype: protein_coding
description:
  Follicle-stimulating hormone receptor; G protein-coupled receptor for follitropin, the follicle- stimulating hormone. Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways.


ensembl_gene_id: ENSPPYP00000013861
symbol: LHCGR
gene_biotype: protein_coding
description:
  Lutropin-choriogonadotropic hormone receptor; Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase; Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.


ensembl_gene_id: ENSPPYP00000013885
symbol: MCFD2
gene_biotype: protein_coding
description:
  Multiple coagulation factor deficiency protein 2 homolog; The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins.


ensembl_gene_id: ENSPPYP00000013897
symbol: PRKCE
gene_biotype: protein_coding
description:
  Protein kinase C epsilon type; Calcium-independent, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase that plays essential roles in the regulation of multiple cellular processes linked to cytoskeletal proteins, such as cell adhesion, motility, migration and cell cycle, functions in neuron growth and ion channel regulation, and is involved in immune response, cancer cell invasion and regulation of apoptosis. Mediates cell adhesion to the extracellular matrix via integrin- dependent signaling, by mediating angiotensin-2-induced activation of integrin beta- [...]


ensembl_gene_id: ENSPPYP00000013906
symbol: PREPL
gene_biotype: protein_coding
description:
  Prolyl endopeptidase-like; Serine peptidase whose precise substrate specificity remains unclear (By similarity). Does not cleave peptides after a arginine or lysine residue (By similarity). Regulates trans-Golgi network morphology and sorting by regulating the membrane binding of the AP-1 complex (By similarity). May play a role in the regulation of synaptic vesicle exocytosis (By similarity).


ensembl_gene_id: ENSPPYP00000013916
symbol: HAAO
gene_biotype: protein_coding
description:
  3-hydroxyanthranilate 3,4-dioxygenase; Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate; Belongs to the 3-HAO family.


ensembl_gene_id: ENSPPYP00000013930
symbol: MAP4K3
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase kinase 3; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.


ensembl_gene_id: ENSPPYP00000013940
symbol: GALM
gene_biotype: protein_coding
description:
  Aldose 1-epimerase; Mutarotase converts alpha-aldose to the beta-anomer. It is active on D-glucose, L-arabinose, D-xylose, D-galactose, maltose and lactose (By similarity).


ensembl_gene_id: ENSPPYP00000013949
symbol: NDUFAF7
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase NDUFAF7; Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).


ensembl_gene_id: ENSPPYP00000013960
symbol: FAM98A
gene_biotype: protein_coding
description:
  Protein FAM98A; Positively stimulates PRMT1-induced protein arginine methylation. Involved in skeletal homeostasis. Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts; Belongs to the FAM98 family.


ensembl_gene_id: ENSPPYP00000013972
symbol: SPAST
gene_biotype: protein_coding
description:
  Spastin; ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated. Preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold. Severing activity is not dependent on tubulin acetylation or detyrosination. Microtubule severing promotes reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation [...]


ensembl_gene_id: ENSPPYP00000013977
symbol: EHD3
gene_biotype: protein_coding
description:
  EHD3 isoform 1; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPPYP00000013986
symbol: YPEL5
gene_biotype: protein_coding
description:
  Protein yippee-like 5; 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 normal cell proliferation (By similarity).


ensembl_gene_id: ENSPPYP00000013994
symbol: PPP1CB
gene_biotype: protein_coding
description:
  Serine/threonine-protein phosphatase PP1-beta catalytic subunit; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential for cell division, it participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progressi [...]


ensembl_gene_id: ENSPPYP00000013999
symbol: RBKS
gene_biotype: protein_coding
description:
  Ribokinase; Catalyzes the phosphorylation of ribose at O-5 in a reaction requiring ATP and magnesium. The resulting D-ribose-5-phosphate can then be used either for sythesis of nucleotides, histidine, and tryptophan, or as a component of the pentose phosphate pathway.


ensembl_gene_id: ENSPPYP00000014003
symbol: GPN1
gene_biotype: protein_coding
description:
  GPN-loop GTPase; Small GTPase required for proper nuclear import of RNA polymerase II (RNAPII). May act at an RNAP assembly step prior to nuclear import.


ensembl_gene_id: ENSPPYP00000014005
symbol: ZNF512
gene_biotype: protein_coding
description:
  Zinc finger protein 512; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000014013
symbol: NRBP1
gene_biotype: protein_coding
description:
  Nuclear receptor-binding protein; May play a role in subcellular trafficking between the endoplasmic reticulum and Golgi apparatus through interactions with the Rho-type GTPases; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.


ensembl_gene_id: ENSPPYP00000014016
symbol: SNX17
gene_biotype: protein_coding
description:
  Sorting nexin-17; Critical regulator of endosomal recycling of numerous surface proteins, including integrins, signaling receptor and channels. Binds to NPxY sequences in the cytoplasmic tails of target cargos. Associates with retriever and CCC complexes to prevent lysosomal degradation and promote cell surface recycling of numerous cargos such as integrins ITGB1, ITGB5 and their associated alpha subunits. Also required for maintenance of normal cell surface levels of APP and LRP1. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)).


ensembl_gene_id: ENSPPYP00000014018
symbol: GTF3C2
gene_biotype: protein_coding
description:
  General transcription factor 3C polypeptide 2; Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for transcription of 5S rRNA and other stable nuclear and cytoplasmic RNAs. May play a direct role in stabilizing interactions of TFIIIC2 with TFIIIC1 (By similarity).


ensembl_gene_id: ENSPPYP00000014019
symbol: MPV17
gene_biotype: protein_coding
description:
  Mitochondrial inner membrane protein MPV17; Belongs to the peroxisomal membrane protein PXMP2/4 family.


ensembl_gene_id: ENSPPYP00000014021
symbol: TRIM54
gene_biotype: protein_coding
description:
  Tripartite motif-containing protein 54; May bind and stabilize microtubules during myotubes formation.


ensembl_gene_id: ENSPPYP00000014024
symbol: SLC30A3
gene_biotype: protein_coding
description:
  Zinc transporter 3; Involved in accumulation of zinc in synaptic vesicles. Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily.


ensembl_gene_id: ENSPPYP00000014041
symbol: SLC35F6
gene_biotype: protein_coding
description:
  Solute carrier family 35 member F6; Involved in the maintenance of mitochondrial membrane potential in pancreatic ductal adenocarcinoma (PDAC) cells. Promotes pancreatic ductal adenocarcinoma (PDAC) cell growth. May play a role as a nucleotide-sugar transporter (By similarity).


ensembl_gene_id: ENSPPYP00000014048
symbol: SELENOI
gene_biotype: protein_coding
description:
  Ethanolaminephosphotransferase 1; Catalyzes phosphatidylethanolamine biosynthesis from CDP- ethanolamine. It thereby plays a central role in the formation and maintenance of vesicular membranes. Involved in the formation of phosphatidylethanolamine via 'Kennedy' pathway (By similarity).


ensembl_gene_id: ENSPPYP00000014051
symbol: HADHA
gene_biotype: protein_coding
description:
  Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha; Belongs to the enoyl-CoA hydratase/isomerase family.


ensembl_gene_id: ENSPPYP00000014054
symbol: RAB10
gene_biotype: protein_coding
description:
  Ras-related protein Rab-10; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (By similarity). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). That Rab is mainly involved in the biosynthetic transport of proteins from the Golgi to the plasma membrane (By similarity). Regulates, for instance, SLC [...]


ensembl_gene_id: ENSPPYP00000014060
symbol: DNMT3A
gene_biotype: protein_coding
description:
  DNMT3A isoform 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.


ensembl_gene_id: ENSPPYP00000014064
symbol: DNAJC27
gene_biotype: protein_coding
description:
  DnaJ homolog subfamily C member 27; GTPase which can activate the MEK/ERK pathway and induce cell transformation when overexpressed. May act as a nuclear scaffold for MAPK1, probably by association with MAPK1 nuclear export signal leading to enhanced ERK1/ERK2 signaling.


ensembl_gene_id: ENSPPYP00000014085
symbol: LDAH
gene_biotype: protein_coding
description:
  Lipid droplet-associated hydrolase; Serine lipid hydrolase associated with lipid droplets. Highly expressed in macrophage-rich areas in atherosclerotic lesions, suggesting that it could promote cholesterol ester turnover in macrophages; Belongs to the AB hydrolase superfamily. LDAH family.


ensembl_gene_id: ENSPPYP00000014092
symbol: LAPTM4A
gene_biotype: protein_coding
description:
  Lysosomal-associated transmembrane protein 4A; May function in the transport of nucleosides and/or nucleoside derivatives between the cytosol and the lumen of an intracellular membrane-bound compartment.


ensembl_gene_id: ENSPPYP00000014094
symbol: WDR35
gene_biotype: protein_coding
description:
  WD repeat-containing protein 35; As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking.


ensembl_gene_id: ENSPPYP00000014098
symbol: KCNS3
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily S member 3; Belongs to the potassium channel family.


ensembl_gene_id: ENSPPYP00000014109
symbol: DDX1
gene_biotype: protein_coding
description:
  ATP-dependent RNA helicase DDX1; Acts as an ATP-dependent RNA helicase, able to unwind both RNA-RNA and RNA-DNA duplexes. Possesses 5' single-stranded RNA overhang nuclease activity. Possesses ATPase activity on various RNA, but not DNA polynucleotides. May play a role in RNA clearance at DNA double- strand breaks (DSBs), thereby facilitating the template-guided repair of transcriptionally active regions of the genome. Together with RELA, acts as a coactivator to enhance NF-kappa-B-mediated transcriptional activation. Acts as a positive transcriptional regulator of cyclin CCND2 express [...]


ensembl_gene_id: ENSPPYP00000014112
symbol: TRIB2
gene_biotype: protein_coding
description:
  Tribbles homolog 2; Interacts with MAPK kinases and regulates activation of MAP kinases. Does not display kinase activity (By similarity). Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Tribbles subfamily.


ensembl_gene_id: ENSPPYP00000014122
symbol: KCNF1
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily F member 1; Belongs to the potassium channel family.


ensembl_gene_id: ENSPPYP00000014123
symbol: PDIA6
gene_biotype: protein_coding
description:
  Protein disulfide-isomerase A6; May function as a chaperone that inhibits aggregation of misfolded proteins. Negatively regulates the unfolded protein response (UPR) through binding to UPR sensors such as ERN1, which in turn inactivates ERN1 signaling. May also regulate the UPR via the EIF2AK3 UPR sensor. Plays a role in platelet aggregation and activation by agonists such as convulxin, collagen and thrombin. Belongs to the protein disulfide isomerase family.


ensembl_gene_id: ENSPPYP00000014125
symbol: ATP6V1C2
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit C; 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.


ensembl_gene_id: ENSPPYP00000014129
symbol: HPCAL1
gene_biotype: protein_coding
description:
  Hippocalcin-like protein 1; May be involved in the calcium-dependent regulation of rhodopsin phosphorylation.


ensembl_gene_id: ENSPPYP00000014134
symbol: GRHL1
gene_biotype: protein_coding
description:
  Grainyhead-like protein 1 homolog; Transcription factor involved in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3'. Important regulator of DSG1 in the context of hair anchorage and epidermal differentiation, participates in the maintenance of the skin barrier. There is no genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity during epithelia development. Belongs to the grh/CP2 family. Grainyhead subfamily.


ensembl_gene_id: ENSPPYP00000014137
symbol: YWHAQ
gene_biotype: protein_coding
description:
  14-3-3 protein theta; 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. Negatively regulates the kinase activity of PDPK1 (By similarity).


ensembl_gene_id: ENSPPYP00000014148
symbol: RSAD2
gene_biotype: protein_coding
description:
  Radical S-adenosyl methionine domain-containing protein 2; Interferon-inducible iron-sulfur (4FE-4S) cluster-binding antiviral protein which plays a major role in the cell antiviral state induced by type I and type II interferon. Can inhibit a wide range of viruses, including west Nile virus (WNV), dengue virus, sindbis virus, influenza A virus, sendai virus and vesicular stomatitis virus (VSV). Displays antiviral activity against influenza A virus by inhibiting the budding of the virus from the plasma membrane by disturbing the lipid rafts. This is accomplished, at least in part, thro [...]


ensembl_gene_id: ENSPPYP00000014157
symbol: ADI1
gene_biotype: protein_coding
description:
  1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase; Catalyzes the formation of formate and 2-keto-4- methylthiobutyrate (KMTB) from 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene). Also down-regulates cell migration mediated by MMP14. Belongs to the acireductone dioxygenase (ARD) family.


ensembl_gene_id: ENSPPYP00000014159
symbol: EIPR1
gene_biotype: protein_coding
description:
  EARP and GARP complex-interacting protein 1; Acts as a component of endosomal retrieval machinery that is involved in protein transport from early endosomes to either recycling endosomes or the trans-Golgi network. Mediates the recruitment of Golgi-associated retrograde protein (GARP) complex to the trans-Golgi network and controls early endosome-to-Golgi transport of internalized protein. Promotes the recycling of internalized transferrin receptor (TFRC) to the plasma membrane through interaction with endosome- associated recycling protein (EARP) complex.


ensembl_gene_id: ENSPPYP00000014169
symbol: ACP1
gene_biotype: protein_coding
description:
  Low molecular weight phosphotyrosine protein phosphatase; Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl phosphates.


ensembl_gene_id: ENSPPYP00000014197
symbol: ID2
gene_biotype: protein_coding
description:
  DNA-binding protein inhibitor ID-2; Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Inhibits skeletal muscle and cardiac myocyte differentiation. Regulates the circadian clock by repressing the transcriptional activator activity of the C [...]


ensembl_gene_id: ENSPPYP00000014216
symbol: PLEKHB2
gene_biotype: protein_coding
description:
  Pleckstrin homology domain-containing family B member 2; Involved in retrograde transport of recycling endosomes.


ensembl_gene_id: ENSPPYP00000014230
symbol: HS6ST1
gene_biotype: protein_coding
description:
  Heparan-sulfate 6-O-sulfotransferase; 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate.


ensembl_gene_id: ENSPPYP00000014246
symbol: ERCC3
gene_biotype: protein_coding
description:
  General transcription and DNA repair factor IIH helicase subunit XPB; ATP-dependent 3'-5' DNA helicase, 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 and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATPase activity of XPB/ERCC3, but not its helicase activity, is required fo [...]


ensembl_gene_id: ENSPPYP00000014254
symbol: TSN
gene_biotype: protein_coding
description:
  Translin; DNA-binding protein that specifically recognizes consensus sequences at the breakpoint junctions in chromosomal translocations, mostly involving immunoglobulin (Ig)/T-cell receptor gene segments. Seems to recognize single-stranded DNA ends generated by staggered breaks occurring at recombination hot spots (By similarity). Belongs to the translin family.


ensembl_gene_id: ENSPPYP00000014259
symbol: TFCP2L1
gene_biotype: protein_coding
description:
  Transcription factor CP2-like protein 1; Transcription factor that facilitates establishment and maintenance of pluripotency in embryonic stem cells (ESCs) (By similarity). With KLF2, acts as the major effector of self-renewal that mediates induction of pluripotency downstream of LIF/STAT3 and Wnt/beta-catenin signaling (By similarity). Required for normal duct development in the salivary gland and kidney (By similarity). Coordinates the development of the kidney collecting ducts intercalated (IC) and principal (PC) cells, which regulate acid-base and salt-water homeostasis, respective [...]


ensembl_gene_id: ENSPPYP00000014262
symbol: RALB
gene_biotype: protein_coding
description:
  Ras-related protein Ral-B; Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles (By similarity). Required both to stabilize the assembly of the exocyst complex and to localize functional exocyst complexes to the leading edge of migrating cells (By similarity). Required for suppression of apoptosis (By s [...]


ensembl_gene_id: ENSPPYP00000014265
symbol: PTPN4
gene_biotype: protein_coding
description:
  Tyrosine-protein phosphatase non-receptor type; May act at junctions between the membrane and the cytoskeleton.


ensembl_gene_id: ENSPPYP00000014277
symbol: INSIG2
gene_biotype: protein_coding
description:
  Insulin-induced gene 2 protein; Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Seems to regulate the ubiquitin-mediated proteasomal degradation of HMGCR (By similarity).


ensembl_gene_id: ENSPPYP00000014282
symbol: ACTR3
gene_biotype: protein_coding
description:
  Actin-related protein 3; ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility. Seems to contact the pointed end of the daughter actin filament. In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. The Arp2/3 complex promote [...]


ensembl_gene_id: ENSPPYP00000014283
symbol: SLC35F5
gene_biotype: protein_coding
description:
  Solute carrier family 35 member F5; Putative solute transporter; Belongs to the SLC35F solute transporter family.


ensembl_gene_id: ENSPPYP00000014294
symbol: ACMSD
gene_biotype: protein_coding
description:
  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase; Converts alpha-amino-beta-carboxymuconate-epsilon- semialdehyde (ACMS) to alpha-aminomuconate semialdehyde (AMS). Belongs to the metallo-dependent hydrolases superfamily.


ensembl_gene_id: ENSPPYP00000014304
symbol: UBXN4
gene_biotype: protein_coding
description:
  UBX domain-containing protein 4; Involved in endoplasmic reticulum-associated protein degradation (ERAD). Acts as a platform to recruit both UBQLN1 and VCP to the ER during ERAD.


ensembl_gene_id: ENSPPYP00000014308
symbol: DARS1
gene_biotype: protein_coding
description:
  Aspartate--tRNA ligase, cytoplasmic; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 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; Belongs to the class-II aminoacyl-tRNA synthetase family. Type 2 subfamily.


ensembl_gene_id: ENSPPYP00000014313
symbol: HNMT
gene_biotype: protein_coding
description:
  Histamine N-methyltransferase; Inactivates histamine by N-methylation. Plays an important role in degrading histamine and in regulating the airway response to histamine; Belongs to the class I-like SAM-binding methyltransferase superfamily. HNMT family.


ensembl_gene_id: ENSPPYP00000014317
symbol: KYNU
gene_biotype: protein_coding
description:
  Kynureninase; Catalyzes the cleavage of L-kynurenine (L-Kyn) and L-3- hydroxykynurenine (L-3OHKyn) into anthranilic acid (AA) and 3- hydroxyanthranilic acid (3-OHAA), respectively. Has a preference for the L-3-hydroxy form. Also has cysteine-conjugate-beta-lyase activity. Belongs to the kynureninase family.


ensembl_gene_id: ENSPPYP00000014326
symbol: ACVR2A
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase receptor; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.


ensembl_gene_id: ENSPPYP00000014327
symbol: ORC4
gene_biotype: protein_coding
description:
  Origin recognition complex subunit 4; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3 (By similarity).


ensembl_gene_id: ENSPPYP00000014334
symbol: RND3
gene_biotype: protein_coding
description:
  Rho-related GTP-binding protein RhoE; Binds GTP but lacks intrinsic GTPase activity and is resistant to Rho-specific GTPase-activating proteins.


ensembl_gene_id: ENSPPYP00000014352
symbol: NR4A2
gene_biotype: protein_coding
description:
  Nuclear receptor subfamily 4 group A member 2; Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. It is crucial for expression of a set of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons (By similarity); Belongs to the nuclear hormone receptor family.


ensembl_gene_id: ENSPPYP00000014353
symbol: GPD2
gene_biotype: protein_coding
description:
  Glycerol-3-phosphate dehydrogenase; Belongs to the FAD-dependent glycerol-3-phosphate dehydrogenase family.


ensembl_gene_id: ENSPPYP00000014355
symbol: ERMN
gene_biotype: protein_coding
description:
  Ermin; Plays a role in cytoskeletal rearrangements during the late wrapping and/or compaction phases of myelinogenesis as well as in maintenance and stability of myelin sheath in the adult. May play an important role in late-stage oligodendroglia maturation, myelin/Ranvier node formation during CNS development, and in the maintenance and plasticity of related structures in the mature CNS (By similarity).


ensembl_gene_id: ENSPPYP00000014359
symbol: CR201_G0040093
gene_biotype: protein_coding
description:
  Uridine phosphorylase; Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis.


ensembl_gene_id: ENSPPYP00000014365
symbol: MARCHF7
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase MARCHF7; E3 ubiquitin-protein ligase which may specifically enhance the E2 activity of HIP2. 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 (By similarity). May be involved in T-cell proliferation by regulating LIF secretion (By similarity). May play a role in lysosome homeostasis (By similarity).


ensembl_gene_id: ENSPPYP00000014368
symbol: PLA2R1
gene_biotype: protein_coding
description:
  Soluble secretory phospholipase A2 receptor; Receptor for secretory phospholipase A2 (sPLA2). Also able to bind to snake PA2-like toxins. Although its precise function remains unclear, binding of sPLA2 to its receptor participates in both positive and negative regulation of sPLA2 functions as well as clearance of sPLA2. Binding of sPLA2-IB/PLA2G1B induces various effects depending on the cell type, such as activation of the mitogen-activated protein kinase (MAPK) cascade to induce cell proliferation, the production of lipid mediators, selective release of arachidonic acid in bone marro [...]


ensembl_gene_id: ENSPPYP00000014382
symbol: GCA
gene_biotype: protein_coding
description:
  Grancalcin; Calcium-binding protein that may play a role in the adhesion of neutrophils to fibronectin. May play a role in the formation of focal adhesions (By similarity).


ensembl_gene_id: ENSPPYP00000014431
symbol: CYBRD1
gene_biotype: protein_coding
description:
  Cytochrome b reductase 1; Ferric-chelate reductase that reduces Fe(3+) to Fe(2+). Present at the brush border of duodenal enterocytes where it probably reduces dietary Fe(3+) thereby facilitating its transport into the mucosal cells. Uses ascorbate as electron donor. May be involved in extracellular ascorbate recycling in erythrocyte membranes. May also act as a ferrireductase in airway epithelial cells (By similarity).


ensembl_gene_id: ENSPPYP00000014432
symbol: DYNC1I2
gene_biotype: protein_coding
description:
  Cytoplasmic dynein 1 intermediate chain 2; 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 help dynein bind to dynactin 150 kDa component (By similarity). organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCNT1. Involved in membrane-transport, such a [...]


ensembl_gene_id: ENSPPYP00000014435
symbol: SLC25A12
gene_biotype: protein_coding
description:
  Calcium-binding mitochondrial carrier protein Aralar1; Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.


ensembl_gene_id: ENSPPYP00000014436
symbol: HAT1
gene_biotype: protein_coding
description:
  Histone acetyltransferase type B catalytic subunit; Acetylates soluble but not nucleosomal histone H4 at 'Lys-5' (H4K5ac) and 'Lys-12' (H4K12ac) and, to a lesser extent, acetylates histone H2A at 'Lys-5' (H2AK5ac). Has intrinsic substrate specificity that modifies lysine in recognition sequence GXGKXG.


ensembl_gene_id: ENSPPYP00000014437
symbol: METAP1D
gene_biotype: protein_coding
description:
  Methionine aminopeptidase; 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: ENSPPYP00000014451
symbol: OLA1
gene_biotype: protein_coding
description:
  Obg-like ATPase 1; Hydrolyzes ATP, and can also hydrolyze GTP with lower efficiency. Has lower affinity for GTP; Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family. YchF/OLA1 subfamily.


ensembl_gene_id: ENSPPYP00000014461
symbol: ATF2
gene_biotype: protein_coding
description:
  Cyclic AMP-dependent transcription factor ATF-2; Transcriptional activator which regulates the transcription of various genes, including those involved in anti-apoptosis, cell growth, and DNA damage response. Dependent on its binding partner, binds to CRE (cAMP response element) consensus sequences (5'-TGACGTCA- 3') or to AP-1 (activator protein 1) consensus sequences (5'-TGACTCA- 3'); Belongs to the bZIP family.


ensembl_gene_id: ENSPPYP00000014462
symbol: ATP5MC3
gene_biotype: protein_coding
description:
  ATP synthase F(0) complex subunit C3, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanis [...]


ensembl_gene_id: ENSPPYP00000014463
symbol: LNPK
gene_biotype: protein_coding
description:
  Endoplasmic reticulum junction formation protein lunapark; Endoplasmic reticulum (ER)-shaping membrane protein that plays a role in determining ER morphology. Involved in the stabilization of nascent three-way ER tubular junctions within the ER network. May also play a role as a curvature-stabilizing protein within three-way ER tubular junction network. May be involved in limb and central nervous system development; Belongs to the lunapark family.


ensembl_gene_id: ENSPPYP00000014488
symbol: AGPS
gene_biotype: protein_coding
description:
  Alkylglycerone-phosphate synthase; Catalyzes the exchange of an acyl for a long-chain alkyl group and the formation of the ether bond in the biosynthesis of ether phospholipids; Belongs to the FAD-binding oxidoreductase/transferase type 4 family.


ensembl_gene_id: ENSPPYP00000014499
symbol: FKBP7
gene_biotype: protein_coding
description:
  Peptidyl-prolyl cis-trans isomerase FKBP7; PPIases accelerate the folding of proteins during protein synthesis.


ensembl_gene_id: ENSPPYP00000014506
symbol: CWC22
gene_biotype: protein_coding
description:
  Pre-mRNA-splicing factor CWC22 homolog; Required for pre-mRNA splicing as component of the spliceosome. Promotes exon-junction complex (EJC) assembly. Hinders EIF4A3 from non-specifically binding RNA and escorts it to the splicing machinery to promote EJC assembly on mature mRNAs. Through its role in EJC assembly, required for nonsense-mediated mRNA decay.


ensembl_gene_id: ENSPPYP00000014513
symbol: PPP1R1C
gene_biotype: protein_coding
description:
  Protein phosphatase 1 regulatory subunit 1C; May increase cell susceptibility to TNF-induced apoptosis. Belongs to the protein phosphatase inhibitor 1 family.


ensembl_gene_id: ENSPPYP00000014516
symbol: DNAJC10
gene_biotype: protein_coding
description:
  DnaJ homolog subfamily C member 10; Endoplasmic reticulum disulfide reductase involved both in the correct folding of proteins and degradation of misfolded proteins. Required for efficient folding of proteins in the endoplasmic reticulum by catalyzing the removal of non-native disulfide bonds formed during the folding of proteins, such as LDLR. Also involved in endoplasmic reticulum-associated degradation (ERAD) by reducing incorrect disulfide bonds in misfolded glycoproteins recognized by EDEM1. Interaction with HSPA5 is required its activity, not for the disulfide reductase activity, [...]


ensembl_gene_id: ENSPPYP00000014518
symbol: FRZB
gene_biotype: protein_coding
description:
  Secreted frizzled-related protein 3; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP3/FRZB appears to be involved in limb skeletogenesis. Antagonist of Wnt8 signaling. Regulates chondrocyte maturation and long bone development (By similarity).


ensembl_gene_id: ENSPPYP00000014522
symbol: NUP35
gene_biotype: protein_coding
description:
  Nucleoporin NUP53; Functions as a component of the nuclear pore complex (NPC). Belongs to the Nup35 family.


ensembl_gene_id: ENSPPYP00000014539
symbol: SLC40A1
gene_biotype: protein_coding
description:
  Solute carrier family 40 protein; May be involved in iron transport and iron homeostasis. Belongs to the ferroportin (FP) (TC 2.A.100) family. SLC40A subfamily.


ensembl_gene_id: ENSPPYP00000014541
symbol: OSGEPL1
gene_biotype: protein_coding
description:
  Probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial; Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in mitochondrial tRNAs that read codons beginning with adenine. Probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. Involved in mitochondrial genome maintenance.


ensembl_gene_id: ENSPPYP00000014547
symbol: HIBCH
gene_biotype: protein_coding
description:
  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite; Belongs to the enoyl-CoA hydratase/isomerase family.


ensembl_gene_id: ENSPPYP00000014572
symbol: PGAP1
gene_biotype: protein_coding
description:
  GPI inositol-deacylase; Involved in inositol deacylation of GPI-anchored proteins. GPI inositol deacylation may important for efficient transport of GPI- anchored proteins from the endoplasmic reticulum to the Golgi.


ensembl_gene_id: ENSPPYP00000014575
symbol: COQ10B
gene_biotype: protein_coding
description:
  Coenzyme Q-binding protein COQ10 homolog B, mitochondrial; Required for the function of coenzyme Q in the respiratory chain. May serve as a chaperone or may be involved in the transport of Q6 from its site of synthesis to the catalytic sites of the respiratory complexes (By similarity).


ensembl_gene_id: ENSPPYP00000014577
symbol: HSPD1
gene_biotype: protein_coding
description:
  60 kDa heat shock protein, mitochondrial; Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix. The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per rin [...]


ensembl_gene_id: ENSPPYP00000014578
symbol: MOB4
gene_biotype: protein_coding
description:
  MOB-like protein phocein; May play a role in membrane trafficking, specifically in membrane budding reactions.


ensembl_gene_id: ENSPPYP00000014580
symbol: RFTN2
gene_biotype: protein_coding
description:
  Raftlin-2; Upon bacterial lipopolysaccharide stimulation, mediates clathrin-dependent internalization of TLR4 in dendritic cells, resulting in activation of TICAM1-mediated signaling and subsequent IFNB1 production. May regulate B-cell antigen receptor mediated- signaling; Belongs to the raftlin family.


ensembl_gene_id: ENSPPYP00000014581
symbol: MARS2
gene_biotype: protein_coding
description:
  Methionyl-tRNA synthetase 2, mitochondrial; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSPPYP00000014591
symbol: BZW1
gene_biotype: protein_coding
description:
  Basic leucine zipper and W2 domain-containing protein 1; Enhances histone H4 gene transcription but does not seem to bind DNA directly.


ensembl_gene_id: ENSPPYP00000014595
symbol: NIF3L1
gene_biotype: protein_coding
description:
  NIF3-like protein 1; May function as a transcriptional corepressor through its interaction with COPS2, negatively regulating the expression of genes involved in neuronal differentiation.


ensembl_gene_id: ENSPPYP00000014600
symbol: CFLAR
gene_biotype: protein_coding
description:
  CASP8 and FADD-like apoptosis regulator subunit p12; Apoptosis regulator protein which may function as a crucial link between cell survival and cell death pathways in mammalian cells. Acts as an inhibitor of TNFRSF6 mediated apoptosis. A proteolytic fragment (p43) is likely retained in the death-inducing signaling complex (DISC) thereby blocking further recruitment and processing of caspase-8 at the complex. Full length and shorter isoforms have been shown either to induce apoptosis or to reduce TNFRSF-triggered apoptosis. Lacks enzymatic (caspase) activity (By similarity). Belongs to  [...]


ensembl_gene_id: ENSPPYP00000014619
symbol: SUMO1
gene_biotype: protein_coding
description:
  Small ubiquitin-related modifier 1; Ubiquitin-like protein that can be covalently attached to proteins as a monomer or a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by E3 ligases such as PIAS1-4, RANBP2 or CBX4. This post- translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Involved for insta [...]


ensembl_gene_id: ENSPPYP00000014627
symbol: WDR12
gene_biotype: protein_coding
description:
  Ribosome biogenesis protein WDR12; 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: ENSPPYP00000014646
symbol: NDUFS1
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized (By sim [...]


ensembl_gene_id: ENSPPYP00000014655
symbol: FASTKD2
gene_biotype: protein_coding
description:
  FAST kinase domain-containing protein 2, mitochondrial; Plays an important role in assembly of the mitochondrial large ribosomal subunit. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation.


ensembl_gene_id: ENSPPYP00000014659
symbol: METTL21A
gene_biotype: protein_coding
description:
  Protein N-lysine methyltransferase METTL21A; Protein-lysine methyltransferase that selectively trimethylates residues in heat shock protein 70 (HSP70) family members. Contributes to the in vivo trimethylation of Lys residues in HSPA1 and HSPA8. In vitro methylates 'Lys-561' in HSPA1, 'Lys-564' in HSPA2, 'Lys-585' in HSPA5, 'Lys-563' in HSPA6 and 'Lys-561' in HSPA8 (By similarity).


ensembl_gene_id: ENSPPYP00000014676
symbol: RPE
gene_biotype: protein_coding
description:
  Ribulose-phosphate 3-epimerase; Catalyzes the reversible epimerization of D-ribulose 5- phosphate to D-xylulose 5-phosphate.


ensembl_gene_id: ENSPPYP00000014690
symbol: ATIC
gene_biotype: protein_coding
description:
  Phosphoribosylaminoimidazolecarboxamide formyltransferase; Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis; Belongs to the PurH family.


ensembl_gene_id: ENSPPYP00000014695
symbol: PECR
gene_biotype: protein_coding
description:
  Peroxisomal trans-2-enoyl-CoA reductase; Participates in chain elongation of fatty acids. Has no 2,4- dienoyl-CoA reductase activity (By similarity).


ensembl_gene_id: ENSPPYP00000014697
symbol: XRCC5
gene_biotype: protein_coding
description:
  X-ray repair cross-complementing protein 5; Single-stranded DNA-dependent ATP-dependent helicase. Belongs to the ku80 family.


ensembl_gene_id: ENSPPYP00000014708
symbol: ARPC2
gene_biotype: protein_coding
description:
  Actin-related protein 2/3 complex subunit 2; Actin-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility. Seems to contact the mother actin filament. In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. The Arp2/3 complex promot [...]


ensembl_gene_id: ENSPPYP00000014710
symbol: AAMP
gene_biotype: protein_coding
description:
  Angio-associated migratory cell protein; Plays a role in angiogenesis and cell migration. In smooth muscle cell migration, may act through the RhoA pathway (By similarity).


ensembl_gene_id: ENSPPYP00000014723
symbol: CNOT9
gene_biotype: protein_coding
description:
  CCR4-NOT transcription complex subunit 9; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Involved in down- regulation of MYB- and JUN-dependent transcription. Enhances ligand- dependent transcriptional activity of nuclear hormone receptors. May play a role in cell d [...]


ensembl_gene_id: ENSPPYP00000014724
symbol: PLCD4
gene_biotype: protein_coding
description:
  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4; Hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates the activation of protein kinase C (PKC), while IP3 releases Ca(2+) from intracellular stores. Required for acrosome reaction in sperm during fertilization, probably by acting as an important enzyme for intracellular Ca(2+) mobilization in the zona pellucida-induced acrosome reaction. May play a role in cell growth. Modulates the liver regeneration [...]


ensembl_gene_id: ENSPPYP00000014729
symbol: STK36
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase 36; Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors. Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization. GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur. Required for postnatal development, possibly by regulating the homeostasis of c [...]


ensembl_gene_id: ENSPPYP00000014748
symbol: ATG9A
gene_biotype: protein_coding
description:
  Autophagy-related protein 9A; 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. Cycles between a juxta-nuclear trans-Golgi network compartment and late endosomes. Nutrient starvation induces accumulation on autophagosomes. Starvation-dependent trafficking requires ULK1, ATG13 and SUPT20H (By similarity).


ensembl_gene_id: ENSPPYP00000014757
symbol: DNPEP
gene_biotype: protein_coding
description:
  Aspartyl aminopeptidase; Aminopeptidase with specificity towards an acidic amino acid at the N-terminus. Likely to play an important role in intracellular protein and peptide metabolism (By similarity).


ensembl_gene_id: ENSPPYP00000014765
symbol: INHA
gene_biotype: protein_coding
description:
  Inhibin alpha chain; Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition; Belongs to the TGF-beta family.


ensembl_gene_id: ENSPPYP00000014779
symbol: SCG2
gene_biotype: protein_coding
description:
  Secretogranin-2; Neuroendocrine protein of the granin family that regulates the biogenesis of secretory granules.


ensembl_gene_id: ENSPPYP00000014783
symbol: MRPL44
gene_biotype: protein_coding
description:
  39S ribosomal protein L44, mitochondrial; Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome.


ensembl_gene_id: ENSPPYP00000014790
symbol: RHBDD1
gene_biotype: protein_coding
description:
  Rhomboid-related protein 4; Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins. Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfe [...]


ensembl_gene_id: ENSPPYP00000014811
symbol: FBXO36
gene_biotype: protein_coding
description:
  F-box only protein 36; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.


ensembl_gene_id: ENSPPYP00000014825
symbol: PSMD1
gene_biotype: protein_coding
description:
  26S proteasome non-ATPase regulatory subunit 1; 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; Belongs to the proteasome subunit S1 family.


ensembl_gene_id: ENSPPYP00000014829
symbol: NCL
gene_biotype: protein_coding
description:
  Nucleolin; Nucleolin is the major nucleolar protein of growing eukaryotic cells. It is found associated with intranucleolar chromatin and pre-ribosomal particles. It induces chromatin decondensation by binding to histone H1. It is thought to play a role in pre-rRNA transcription and ribosome assembly. May play a role in the process of transcriptional elongation. Binds RNA oligonucleotides with 5'-UUAGGG- 3' repeats more tightly than the telomeric single-stranded DNA 5'- TTAGGG-3' repeats (By similarity).


ensembl_gene_id: ENSPPYP00000014835
symbol: PDE6D
gene_biotype: protein_coding
description:
  Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta; Promotes the release of prenylated target proteins from cellular membranes. Modulates the activity of prenylated or palmitoylated Ras family members by regulating their subcellular location. Required for normal ciliary targeting of farnesylated target proteins, such as INPP5E. Modulates the subcellular location of target proteins by acting as a GTP specific dissociation inhibitor (GDI). Increases the affinity of ARL3 for GTP by several orders of magnitude. Stabilizes ARL3-GTP by decreasing the nucleotide [...]


ensembl_gene_id: ENSPPYP00000014839
symbol: DIS3L2
gene_biotype: protein_coding
description:
  DIS3-like exonuclease 2; 3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mi [...]


ensembl_gene_id: ENSPPYP00000014847
symbol: EIF4E2
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 4E family member 2; Belongs to the eukaryotic initiation factor 4E family.


ensembl_gene_id: ENSPPYP00000014853
symbol: NGEF
gene_biotype: protein_coding
description:
  Ephexin-1; Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 and CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse and dendritic spine morphogenesis. Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone extension (By similarity).


ensembl_gene_id: ENSPPYP00000014856
symbol: ATG16L1
gene_biotype: protein_coding
description:
  Autophagy-related protein 16-1; Plays an essential role in autophagy: interacts with ATG12- ATG5 to mediate the conjugation of phosphatidylethanolamine (PE) to LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C), to produce a membrane-bound activated form of LC3 named LC3-II. Thereby, controls the elongation of the nascent autophagosomal membrane. Regulates mitochondrial antiviral signaling (MAVS)-dependent type I interferon (IFN-I) production. Negatively regulates NOD1- and NOD2-driven inflammatory cytokine response. Instead, promotes with NOD2 an autophagy-dependent antibacterial pathway. Plays a r [...]


ensembl_gene_id: ENSPPYP00000014881
symbol: COPS8
gene_biotype: protein_coding
description:
  COP9 signalosome complex subunit 8; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF- type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN- [...]


ensembl_gene_id: ENSPPYP00000014913
symbol: NDUFA10
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, 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: ENSPPYP00000014918
symbol: CR201_G0049379
gene_biotype: protein_coding
description:
  GPC1 isoform 1; Cell surface proteoglycan that bears heparan sulfate. Belongs to the glypican family.


ensembl_gene_id: ENSPPYP00000014936
symbol: HDLBP
gene_biotype: protein_coding
description:
  Vigilin; Appears to play a role in cell sterol metabolism. It may function to protect cells from over-accumulation of cholesterol (By similarity).


ensembl_gene_id: ENSPPYP00000014937
symbol: SEPTIN2
gene_biotype: protein_coding
description:
  Septin-2; Filament-forming cytoskeletal GTPase. 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). Required for normal organization of the actin cytoskeleton. Plays a role in the biogenesis of polarized columnar- shaped epithelium by maintaining polyglutamylated microtubules, thus facilitating efficient vesicle transport, and by impeding MAP4 binding to tubulin. Required for the progression through mitosis [...]


ensembl_gene_id: ENSPPYP00000014955
symbol: GAD1
gene_biotype: protein_coding
description:
  Glutamate decarboxylase 1; Catalyzes the production of GABA; Belongs to the group II decarboxylase family.


ensembl_gene_id: ENSPPYP00000014966
symbol: IMP4
gene_biotype: protein_coding
description:
  U3 small nucleolar ribonucleoprotein protein IMP4; Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing (By similarity).


ensembl_gene_id: ENSPPYP00000014975
symbol: RAF1
gene_biotype: protein_coding
description:
  RAF proto-oncogene serine/threonine-protein kinase; Serine/threonine-protein kinase that acts as a regulatory link between the membrane-associated Ras GTPases and the MAPK/ERK cascade, and this critical regulatory link functions as a switch determining cell fate decisions including proliferation, differentiation, apoptosis, survival and oncogenic transformation. RAF1 activation initiates a mitogen-activated protein kinase (MAPK) cascade that comprises a sequential phosphorylation of the dual-specific MAPK kinases (MAP2K1/MEK1 and MAP2K2/MEK2) and the extracellular signal- regulated kin [...]


ensembl_gene_id: ENSPPYP00000014987
symbol: TMEM43
gene_biotype: protein_coding
description:
  Transmembrane protein 43; May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity).


ensembl_gene_id: ENSPPYP00000014990
symbol: LSM3
gene_biotype: protein_coding
description:
  U6 snRNA-associated Sm-like protein LSm3; Binds specifically to the 3'-terminal U-tract of U6 snRNA.


ensembl_gene_id: ENSPPYP00000014999
symbol: TRH
gene_biotype: protein_coding
description:
  Pro-thyrotropin-releasing hormone; Functions as a regulator of the biosynthesis of TSH in the anterior pituitary gland and as a neurotransmitter/ neuromodulator in the central and peripheral nervous systems.


ensembl_gene_id: ENSPPYP00000015005
symbol: MBD4
gene_biotype: protein_coding
description:
  Methyl-CpG-binding domain protein 4; Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein.


ensembl_gene_id: ENSPPYP00000015009
symbol: HMCES
gene_biotype: protein_coding
description:
  Abasic site processing protein HMCES; Sensor of abasic sites in single-stranded DNA (ssDNA) required to preserve genome integrity by promoting error-free repair of abasic sites. Acts as an enzyme that recognizes and binds abasic sites in ssDNA at replication forks and chemically modifies the lesion by forming a covalent cross-link with DNA. The HMCES DNA-protein cross- link is then degraded by the proteasome. Promotes error-free repair of abasic sites by acting as a 'suicide' enzyme that is degraded, thereby protecting abasic sites from translesion synthesis (TLS) polymerases and endon [...]


ensembl_gene_id: ENSPPYP00000015010
symbol: COPG1
gene_biotype: protein_coding
description:
  Coatomer subunit gamma; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins.


ensembl_gene_id: ENSPPYP00000015013
symbol: CNBP
gene_biotype: protein_coding
description:
  Cellular nucleic acid-binding protein; Single-stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression (By similarity).


ensembl_gene_id: ENSPPYP00000015022
symbol: RAB7A
gene_biotype: protein_coding
description:
  Ras-related protein Rab-7a; Key regulator in endo-lysosomal trafficking. Governs early- to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades (By similarity). Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth- factor-mediated cell signaling, nutrient-transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism (By simi [...]


ensembl_gene_id: ENSPPYP00000015025
symbol: RPN1
gene_biotype: protein_coding
description:
  Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1; 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 en [...]


ensembl_gene_id: ENSPPYP00000015030
symbol: SEC61A1
gene_biotype: protein_coding
description:
  Protein transport protein Sec61 subunit alpha isoform 1; Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER). Forms a ribosome receptor and a gated pore in the ER membrane, both functions required for cotranslational translocation of nascent polypeptides. May cooperate with auxiliary protein SEC62, SEC63 and HSPA5/BiP to enable post- translational transport of small presecretory proteins. Controls the passive efflux of calcium ions from the ER lumen to the cytosol through SEC [...]


ensembl_gene_id: ENSPPYP00000015041
symbol: CHCHD6
gene_biotype: protein_coding
description:
  MICOS complex subunit; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane.


ensembl_gene_id: ENSPPYP00000015052
symbol: ALDH1L1
gene_biotype: protein_coding
description:
  Cytosolic 10-formyltetrahydrofolate dehydrogenase; In the N-terminal section; belongs to the GART family.


ensembl_gene_id: ENSPPYP00000015056
symbol: SNX4
gene_biotype: protein_coding
description:
  Sorting nexin-4; Involved in the regulation of endocytosis and in several stages of intracellular trafficking. Plays a role in recycling endocytosed transferrin receptor and prevent its degradation. Belongs to the sorting nexin family.


ensembl_gene_id: ENSPPYP00000015057
symbol: ZNF148
gene_biotype: protein_coding
description:
  Zinc finger protein 148; Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these genes (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000015062
symbol: UMPS
gene_biotype: protein_coding
description:
  Orotidine 5'-phosphate decarboxylase; In the C-terminal section; belongs to the OMP decarboxylase family.


ensembl_gene_id: ENSPPYP00000015068
symbol: HACD2
gene_biotype: protein_coding
description:
  Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2; Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursor [...]


ensembl_gene_id: ENSPPYP00000015082
symbol: KPNA1
gene_biotype: protein_coding
description:
  Importin subunit alpha-5, N-terminally processed; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and impo [...]


ensembl_gene_id: ENSPPYP00000015083
symbol: WDR5B
gene_biotype: protein_coding
description:
  WD repeat-containing protein 5B; May function as a substrate receptor for CUL4-DDB1 ubiquitin E3 ligase complex; Belongs to the WD repeat WDR5/wds family.


ensembl_gene_id: ENSPPYP00000015084
symbol: FAM162A
gene_biotype: protein_coding
description:
  Protein FAM162A; Proposed to be involved in regulation of apoptosis; the exact mechanism may differ between cell types/tissues. May be involved in hypoxia-induced cell death of transformed cells implicating cytochrome C release and caspase activation (such as CASP9) and inducing mitochondrial permeability transition. May be involved in hypoxia- induced cell death of neuronal cells probably by promoting release of AIFM1 from mitochondria to cytoplasm and its translocation to the nucleus (By similarity).


ensembl_gene_id: ENSPPYP00000015098
symbol: GTF2E1
gene_biotype: protein_coding
description:
  General transcription factor IIE subunit 1; 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 (By similarity).


ensembl_gene_id: ENSPPYP00000015101
symbol: NDUFB4
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4; 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: ENSPPYP00000015102
symbol: FSTL1
gene_biotype: protein_coding
description:
  Follistatin-related protein 1; May modulate the action of some growth factors on cell proliferation and differentiation. Binds heparin (By similarity).


ensembl_gene_id: ENSPPYP00000015111
symbol: PLA1A
gene_biotype: protein_coding
description:
  Phospholipase A1 member A; Hydrolyzes the ester bond at the sn-1 position of glycerophospholipids and produces 2-acyl lysophospholipids. Hydrolyzes phosphatidylserine (PS) in the form of liposomes and 1-acyl-2 lysophosphatidylserine (lyso-PS), but not triolein, phosphatidylcholine (PC), phosphatidylethanolamine (PE), phosphatidic acid (PA) or phosphatidylinositol (PI). Hydrolysis of lyso-PS in peritoneal mast cells activated by receptors for IgE leads to stimulate histamine production (By similarity).


ensembl_gene_id: ENSPPYP00000015123
symbol: GAP43
gene_biotype: protein_coding
description:
  Neuromodulin; This protein is associated with nerve growth. It is a major component of the motile 'growth cones' that form the tips of elongating axons. Plays a role in axonal and dendritic filopodia induction (By similarity).


ensembl_gene_id: ENSPPYP00000015129
symbol: QTRT2
gene_biotype: protein_coding
description:
  Queuine tRNA-ribosyltransferase accessory subunit 2; Non-catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2- cyclopenten-1-yl)amino)methyl)-7-deazaguanosine); Belongs to the queuine tRNA-ribosyltransferase family. QTRT2 subfamily.


ensembl_gene_id: ENSPPYP00000015133
symbol: GRAMD1C
gene_biotype: protein_coding
description:
  Protein Aster-C; Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol [...]


ensembl_gene_id: ENSPPYP00000015134
symbol: ATP6V1A
gene_biotype: protein_coding
description:
  V-type proton ATPase catalytic subunit A; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. May play a role in neurite development and synaptic connectivity. Belongs to the ATPase alpha/beta chains family.


ensembl_gene_id: ENSPPYP00000015136
symbol: NAA50
gene_biotype: protein_coding
description:
  N-alpha-acetyltransferase 50; N-alpha-acetyltransferase that acetylates the N-terminus of proteins that retain their initiating methionine. Has a broad substrate specificity: able to acetylate the initiator methionine of most peptides, except for those with a proline in second position. Also displays N-epsilon-acetyltransferase activity by mediating acetylation of the side chain of specific lysines on proteins. Autoacetylates in vivo. The relevance of N-epsilon-acetyltransferase activity is however unclear: able to acetylate H4 in vitro, but this result has not been confirmed in vivo.  [...]


ensembl_gene_id: ENSPPYP00000015139
symbol: SPICE1
gene_biotype: protein_coding
description:
  Spindle and centriole-associated protein 1; Regulator required for centriole duplication, for proper bipolar spindle formation and chromosome congression in mitosis.


ensembl_gene_id: ENSPPYP00000015150
symbol: CD200
gene_biotype: protein_coding
description:
  OX-2 membrane glycoprotein; Costimulates T-cell proliferation. May regulate myeloid cell activity in a variety of tissues (By similarity).


ensembl_gene_id: ENSPPYP00000015158
symbol: ABHD10
gene_biotype: protein_coding
description:
  Mycophenolic acid acyl-glucuronide esterase, mitochondrial; Belongs to the AB hydrolase superfamily.


ensembl_gene_id: ENSPPYP00000015180
symbol: CD47
gene_biotype: protein_coding
description:
  Leukocyte surface antigen CD47; Has a role in both cell adhesion by acting as an adhesion receptor for THBS1 on platelets, and in the modulation of integrins. Plays an important role in memory formation and synaptic plasticity in the hippocampus. Receptor for SIRPA, binding to which prevents maturation of immature dendritic cells and inhibits cytokine production by mature dendritic cells. Interaction with SIRPG mediates cell-cell adhesion, enhances superantigen-dependent T-cell-mediated proliferation and costimulates T-cell activation. May play a role in membrane transport and/or integ [...]


ensembl_gene_id: ENSPPYP00000015207
symbol: NIT2
gene_biotype: protein_coding
description:
  Omega-amidase NIT2; Has a omega-amidase activity. The role of omega-amidase is to remove potentially toxic intermediates by converting alpha- ketoglutaramate and alpha-ketosuccinamate to biologically useful alpha- ketoglutarate and oxaloacetate, respectively. Belongs to the carbon-nitrogen hydrolase superfamily. NIT1/NIT2 family.


ensembl_gene_id: ENSPPYP00000015209
symbol: TBC1D23
gene_biotype: protein_coding
description:
  TBC1 domain family member 23; Putative Rab GTPase-activating protein which plays a role in vesicular trafficking. Involved in endosome-to-Golgi trafficking. Acts as a bridging protein by binding simultaneously to golgins, including GOLGA1 and GOLGA4, located at the trans-Golgi, and to the WASH complex, located on endosome-derived vesicles. Together with WDR11 complex facilitates the golgin-mediated capture of vesicles generated using AP- 1 (By similarity). Plays a role in brain development, including in cortical neuron positioning (By similarity). May also be important for neurite outg [...]


ensembl_gene_id: ENSPPYP00000015216
symbol: ST3GAL6
gene_biotype: protein_coding
description:
  Type 2 lactosamine alpha-2,3-sialyltransferase; Involved in the synthesis of sialyl-paragloboside, a precursor of sialyl-Lewis X determinant. Has a alpha-2,3- sialyltransferase activity toward Gal-beta1,4-GlcNAc structure on glycoproteins and glycolipids. Has a restricted substrate specificity, it utilizes Gal-beta1,4-GlcNAc on glycoproteins, and neolactotetraosylceramide and neolactohexaosylceramide, but not lactotetraosylceramide, lactosylceramide or asialo-GM1 (By similarity). Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSPPYP00000015228
symbol: RIOX2
gene_biotype: protein_coding
description:
  Ribosomal oxygenase 2; Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Is involved in the demethylation of trimethylated 'Lys-9' on histone H3 (H3K9me3), leading to an increase in ribosomal RNA expression. Also catalyzes the hydroxylation of 60S ribosomal protein L27a on 'His-39'. May play an important role in cell growth and survival. May be involved in ribosome biogenesis, most likely during the assembly process of pre-ribosomal particles (By similarity); Belongs to the ROX family. MINA53 subfamily.


ensembl_gene_id: ENSPPYP00000015230
symbol: ARL6
gene_biotype: protein_coding
description:
  ADP-ribosylation factor-like protein 6; Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia. Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade. Isoform 2 may be required for proper r [...]


ensembl_gene_id: ENSPPYP00000015236
symbol: NSUN3
gene_biotype: protein_coding
description:
  NOP2/Sun RNA methyltransferase 3; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPPYP00000015247
symbol: CHMP2B
gene_biotype: protein_coding
description:
  Charged multivesicular body protein 2b; Probable core 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 sequential functio [...]


ensembl_gene_id: ENSPPYP00000015256
symbol: TSEN2
gene_biotype: protein_coding
description:
  tRNA-splicing endonuclease subunit Sen2; Constitutes one of the two catalytic subunit of the tRNA- splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural [...]


ensembl_gene_id: ENSPPYP00000015269
symbol: SEC13
gene_biotype: protein_coding
description:
  SEC13 homolog, nuclear pore and COPII coat complex component; Belongs to the WD repeat SEC13 family.


ensembl_gene_id: ENSPPYP00000015274
symbol: IRAK2
gene_biotype: protein_coding
description:
  Interleukin-1 receptor-associated kinase-like 2; Binds to the IL-1 type I receptor following IL-1 engagement, triggering intracellular signaling cascades leading to transcriptional up-regulation and mRNA stabilization.


ensembl_gene_id: ENSPPYP00000015293
symbol: TADA3
gene_biotype: protein_coding
description:
  Transcriptional adapter 3; Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex. Also known as a coactivator for p53/TP53- dependent transcriptional activation (By similarity). Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4 (By similarity).


ensembl_gene_id: ENSPPYP00000015306
symbol: OXTR
gene_biotype: protein_coding
description:
  Oxytocin receptor; Receptor for oxytocin. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system; Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.


ensembl_gene_id: ENSPPYP00000015308
symbol: CAV3
gene_biotype: protein_coding
description:
  Caveolin; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity; Belongs to the caveolin family.


ensembl_gene_id: ENSPPYP00000015309
symbol: GRM7
gene_biotype: protein_coding
description:
  Metabotropic glutamate receptor 7; 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, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity (By similarity).


ensembl_gene_id: ENSPPYP00000015314
symbol: ARL8B
gene_biotype: protein_coding
description:
  ADP-ribosylation factor-like protein 8B; Plays a role in lysosome motility. In neurons, mediates the anterograde axonal long-range transport of presynaptic lysosome-related vesicles required for presynaptic biogenesis and synaptic function (By similarity). May play a role in chromosome segregation (By similarity).


ensembl_gene_id: ENSPPYP00000015316
symbol: BHLHE40
gene_biotype: protein_coding
description:
  Class E basic helix-loop-helix protein 40; Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1/2 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK- ARNTL/BMAL1|ARNTL2/ [...]


ensembl_gene_id: ENSPPYP00000015323
symbol: CRBN
gene_biotype: protein_coding
description:
  Protein cereblon; Substrate recognition component of a DCX (DDB1-CUL4-X-box) E3 protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Normal degradation of key regulatory proteins is required for normal limb outgrowth and expression of the fibroblast growth factor FGF8 (By similarity). May play a role in memory and learning by regulating the assembly and neuronal surface expression of large-conductance calcium-activated potassium channels in brain regions involved in memory and learning via its interaction with KCNT1 (By simi [...]


ensembl_gene_id: ENSPPYP00000015324
symbol: TRNT1
gene_biotype: protein_coding
description:
  tRNA nucleotidyl transferase 1; Belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family.


ensembl_gene_id: ENSPPYP00000015338
symbol: PPP4R2
gene_biotype: protein_coding
description:
  Serine/threonine-protein phosphatase 4 regulatory subunit 2; Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers. Its interaction with the SMN complex leads to enhance the temporal localization of snRNPs, suggesting a role of PPP4C in maturation of spliceosomal snRNPs. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AX phosphorylated on 'Ser-140' (gamma-H2AX) generated during DNA replication and required for DNA double strand break repair (By similarity). Mediates RPA2  [...]


ensembl_gene_id: ENSPPYP00000015350
symbol: ARL6IP5
gene_biotype: protein_coding
description:
  PRA1 family protein 3; Regulates intracellular concentrations of taurine and glutamate. Negatively modulates SLC1A1/EAAC1 glutamate transport activity by decreasing its affinity for glutamate in a PKC activity- dependent manner. May be involved in membrane traffic.


ensembl_gene_id: ENSPPYP00000015351
symbol: UBA3
gene_biotype: protein_coding
description:
  NEDD8-activating enzyme E1 catalytic subunit; Catalytic subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Down- regulates steroid receptor activity. Necessary for cell cycle progression (By similarity).


ensembl_gene_id: ENSPPYP00000015361
symbol: SUCLG2
gene_biotype: protein_coding
description:
  Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial; GTP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit.


ensembl_gene_id: ENSPPYP00000015390
symbol: FAM107A
gene_biotype: protein_coding
description:
  Actin-associated protein FAM107A; Stress-inducible actin-binding protein that plays a role in synaptic and cognitive functions by modulating actin filamentous (F- actin) dynamics. Mediates polymerization of globular actin to F-actin. Also binds to, stabilizes and bundles F-actin. Involved in synaptic function by regulating neurite outgrowth in an actin-dependent manner and for the acquisition of hippocampus-dependent cognitive function, such as learning and long-term memory (By similarity). Plays a role in the actin and microtubule cytoskeleton organization; negatively regulates focal  [...]


ensembl_gene_id: ENSPPYP00000015393
symbol: PDHB
gene_biotype: protein_coding
description:
  Pyruvate dehydrogenase E1 component subunit beta, 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: ENSPPYP00000015396
symbol: RPP14
gene_biotype: protein_coding
description:
  Ribonuclease P protein subunit p14; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. Belongs to the eukaryotic/archaeal RNase P protein component 2 family.


ensembl_gene_id: ENSPPYP00000015403
symbol: ARF4
gene_biotype: protein_coding
description:
  ADP-ribosylation factor 4; GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus (By similarity); Belongs to the small GTPase superfamily. Arf family.


ensembl_gene_id: ENSPPYP00000015414
symbol: ARHGEF3
gene_biotype: protein_coding
description:
  Rho guanine nucleotide exchange factor 3; Acts as guanine nucleotide exchange factor (GEF) for RhoA and RhoB GTPases.


ensembl_gene_id: ENSPPYP00000015416
symbol: CCDC66
gene_biotype: protein_coding
description:
  Coiled-coil domain-containing protein 66; Microtubule-binding protein required for ciliogenesis. May function in ciliogenesis by mediating the transport of proteins like BBS4 to the cilium, but also through the organization of the centriolar satellites (By similarity). Plays a role in retina morphogenesis and/or homeostasis (By similarity).


ensembl_gene_id: ENSPPYP00000015423
symbol: ACTR8
gene_biotype: protein_coding
description:
  Actin-related protein 8; Plays an important role in the functional organization of mitotic chromosomes. Exhibits low basal ATPase activity, and unable to polymerize (By similarity); Belongs to the actin family. ARP8 subfamily.


ensembl_gene_id: ENSPPYP00000015429
symbol: PRKCD
gene_biotype: protein_coding
description:
  Protein kinase C delta type; Calcium-independent, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase that plays contrasting roles in cell death and cell survival by functioning as a pro-apoptotic protein during DNA damage-induced apoptosis, but acting as an anti- apoptotic protein during cytokine receptor-initiated cell death, is involved in tumor suppression; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily.


ensembl_gene_id: ENSPPYP00000015430
symbol: RFT1
gene_biotype: protein_coding
description:
  Protein RFT1 homolog; May be involved in N-linked oligosaccharide assembly. Belongs to the RFT1 family.


ensembl_gene_id: ENSPPYP00000015436
symbol: ITIH3
gene_biotype: protein_coding
description:
  Inter-alpha-trypsin inhibitor heavy chain H3; May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes; Belongs to the ITIH family.


ensembl_gene_id: ENSPPYP00000015441
symbol: SPCS1
gene_biotype: protein_coding
description:
  Signal peptidase complex subunit 1; Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.


ensembl_gene_id: ENSPPYP00000015459
symbol: TWF2
gene_biotype: protein_coding
description:
  Twinfilin-2; Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G- actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles. May play a role in regulating the mature length of the middle and short rows of stereocilia (By similarity); Belongs to the actin-binding proteins ADF family. Twinfilin subfamily.


ensembl_gene_id: ENSPPYP00000015461
symbol: ALAS1
gene_biotype: protein_coding
description:
  5-aminolevulinate synthase, nonspecific, mitochondrial; Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSPPYP00000015464
symbol: ACY1
gene_biotype: protein_coding
description:
  Aminoacylase-1; Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate); Belongs to the peptidase M20A family.


ensembl_gene_id: ENSPPYP00000015468
symbol: ABHD14B
gene_biotype: protein_coding
description:
  Protein ABHD14B; Has hydrolase activity towards p-nitrophenyl butyrate (in vitro). May activate transcription (By similarity).


ensembl_gene_id: ENSPPYP00000015489
symbol: ZMYND10
gene_biotype: protein_coding
description:
  Zinc finger MYND domain-containing protein 10; Plays a role in axonemal structure organization and motility. Involved in axonemal pre-assembly of inner and outer dynein arms (IDA and ODA, respectively) for proper axoneme building for cilia motility. May act by indirectly regulating transcription of dynein proteins. Belongs to the ZMYND10 family.


ensembl_gene_id: ENSPPYP00000015519
symbol: AMT
gene_biotype: protein_coding
description:
  Aminomethyltransferase; The glycine cleavage system catalyzes the degradation of glycine; Belongs to the GcvT family.


ensembl_gene_id: ENSPPYP00000015521
symbol: TCTA
gene_biotype: protein_coding
description:
  T-cell leukemia translocation-altered gene protein homolog; May be required for cellular fusion during osteoclastogenesis; Belongs to the TCTA family.


ensembl_gene_id: ENSPPYP00000015522
symbol: RHOA
gene_biotype: protein_coding
description:
  Transforming protein RhoA; Small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Mainly associated with cytoskeleton organization, in active state binds to a variety of effector proteins to regulate cellular responses such cytoskeletal dynamics, cell migration and cell cycle. Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Involved in a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Plays an essent [...]


ensembl_gene_id: ENSPPYP00000015523
symbol: USP4
gene_biotype: protein_coding
description:
  Ubiquitin carboxyl-terminal hydrolase 4; Deubiquitinating enzyme that removes conjugated ubiquitin from target proteins. Deubiquitinates PDPK1. Deubiquitinates TRIM21. Deubiquitinates receptor ADORA2A which increases the amount of functional receptor at the cell surface. May regulate mRNA splicing through deubiquitination of the U4 spliceosomal protein PRPF3. This may prevent its recognition by the U5 component PRPF8 thereby destabilizing interactions within the U4/U6.U5 snRNP. May also play a role in the regulation of quality control in the ER.


ensembl_gene_id: ENSPPYP00000015526
symbol: KLHDC8B
gene_biotype: protein_coding
description:
  Kelch domain-containing protein 8B; Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis. Required for mitotic integrity and maintenance of chromosomal stability. Protects cells against mitotic errors, centrosomal amplification, micronucleus formation and aneuploidy. Plays a key role of midbody function involving abscission of the daughter cells during cytokinesis and appropriate chromosomal and nuclear segregation into the daughter cells.


ensembl_gene_id: ENSPPYP00000015531
symbol: IMPDH2
gene_biotype: protein_coding
description:
  Inosine-5'-monophosphate dehydrogenase; Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.


ensembl_gene_id: ENSPPYP00000015535
symbol: WDR6
gene_biotype: protein_coding
description:
  WD repeat-containing protein 6; Enhances the STK11/LKB1-induced cell growth suppression activity. Negative regulator of amino acid starvation-induced autophagy.


ensembl_gene_id: ENSPPYP00000015550
symbol: SHISA5
gene_biotype: protein_coding
description:
  Protein shisa-5; Can induce apoptosis in a caspase-dependent manner and plays a role in p53/TP53-dependent apoptosis; Belongs to the shisa family.


ensembl_gene_id: ENSPPYP00000015564
symbol: DHX30
gene_biotype: protein_coding
description:
  ATP-dependent RNA helicase DHX30; RNA-dependent helicase. Plays an important role in the assembly of the mitochondrial large ribosomal subunit. Required for optimal function of the zinc-finger antiviral protein ZC3HAV1. Associates with mitochondrial DNA. Involved in nervous system development and differentiation through its involvement in the up- regulation of a number of genes which are required for neurogenesis, including GSC, NCAM1, neurogenin, and NEUROD.


ensembl_gene_id: ENSPPYP00000015578
symbol: PTH1R
gene_biotype: protein_coding
description:
  Parathyroid hormone/parathyroid hormone-related peptide receptor; Receptor for parathyroid hormone and for parathyroid hormone- related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Belongs to the G-protein coupled receptor 2 family.


ensembl_gene_id: ENSPPYP00000015594
symbol: LZTFL1
gene_biotype: protein_coding
description:
  Leucine zipper transcription factor-like protein 1; Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function (By similarity).


ensembl_gene_id: ENSPPYP00000015596
symbol: SACM1L
gene_biotype: protein_coding
description:
  Phosphatidylinositide phosphatase SAC1; Phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 4-phosphate (PtdIns(4)P) (By similarity). Has low activity towards PtdIns(3,5)P2 (By similarity).


ensembl_gene_id: ENSPPYP00000015598
symbol: LARS2
gene_biotype: protein_coding
description:
  Probable leucine--tRNA ligase, mitochondrial; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSPPYP00000015606
symbol: KIF15
gene_biotype: protein_coding
description:
  Kinesin family member 15; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPPYP00000015609
symbol: ZNF501
gene_biotype: protein_coding
description:
  Zinc finger protein 501; May be involved in transcriptional regulation (By similarity). Essential for Golgi structural integrity (By similarity). Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000015621
symbol: ABHD5
gene_biotype: protein_coding
description:
  1-acylglycerol-3-phosphate O-acyltransferase ABHD5; Coenzyme A-dependent lysophosphatidic acid acyltransferase that catalyzes the transfert of an acyl group on a lysophosphatidic acid. Functions preferentially with 1-oleoyl-lysophosphatidic acid followed by 1-palmitoyl-lysophosphatidic acid, 1-stearoyl- lysophosphatidic acid and 1-arachidonoyl-lysophosphatidic acid as lipid acceptor. Functions preferentially with arachidonoyl-CoA followed by oleoyl-CoA as acyl group donors (By similarity). Functions in phosphatidic acid biosynthesis (By similarity). May regulate the cellular storage of [...]


ensembl_gene_id: ENSPPYP00000015631
symbol: HIGD1A
gene_biotype: protein_coding
description:
  HIG1 domain family member 1A, mitochondrial; Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May play a role in the assembly of respiratory supercomplexes (By similarity).


ensembl_gene_id: ENSPPYP00000015642
symbol: ULK4
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase ULK4; May be involved in the remodeling of cytoskeletal components, such as alpha-tubulin, and in this way regulates neurite branching and elongation, as well as cell motility.


ensembl_gene_id: ENSPPYP00000015646
symbol: ZNF620
gene_biotype: protein_coding
description:
  Zinc finger protein 620; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPPYP00000015651
symbol: CR201_G0006390
gene_biotype: protein_coding
description:
  RPSA isoform 5; 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; Belongs to the universal ribosomal protein uS2 family.


ensembl_gene_id: ENSPPYP00000015652
symbol: SLC25A38
gene_biotype: protein_coding
description:
  Mitochondrial glycine transporter; Mitochondrial glycine transporter that imports glycine into the mitochondrial matrix. Plays an important role in providing glycine for the first enzymatic step in heme biosynthesis, the condensation of glycine with succinyl-CoA to produce 5-aminolevulinate (ALA) in the miochondrial matrix. Required during erythropoiesis. Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily.


ensembl_gene_id: ENSPPYP00000015657
symbol: CSRNP1
gene_biotype: protein_coding
description:
  Cysteine/serine-rich nuclear protein 1; Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity. May have a tumor-suppressor function. May play a role in apoptosis (By similarity); Belongs to the AXUD1 family.


ensembl_gene_id: ENSPPYP00000015661
symbol: WDR48
gene_biotype: protein_coding
description:
  WD repeat-containing protein 48; Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 and USP46. Enhances the USP1-mediated deubiquitination of FANCD2; USP1 being almost inactive by itself. Also activates deubiquitinating activity of complexes containing USP12. Activates deubiquitination by increasing the catalytic turnover without increasing the affinity of deubiquitinating enzymes for the substrate. May play a role in vesicular transport or membrane fusion events necessary for transport to lysosomes; Belongs to the WD repeat WDR48 family.


ensembl_gene_id: ENSPPYP00000015667
symbol: XYLB
gene_biotype: protein_coding
description:
  Xylulose kinase; Phosphorylates D-xylulose to produce D-xylulose 5-phosphate, a molecule that may play an important role in the regulation of glucose metabolism and lipogenesis.


ensembl_gene_id: ENSPPYP00000015671
symbol: OXSR1
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase OSR1; Phosphorylates RELL1, RELL2, RELT and PAK1. Phosphorylates PLSCR1 in the presence of RELT; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.


ensembl_gene_id: ENSPPYP00000015673
symbol: MYD88
gene_biotype: protein_coding
description:
  Myeloid differentiation primary response protein MyD88; Adapter protein involved in the Toll-like receptor and IL-1 receptor signaling pathway in the innate immune response.


ensembl_gene_id: ENSPPYP00000015689
symbol: ARPP21
gene_biotype: protein_coding
description:
  cAMP-regulated phosphoprotein 21; May act as a competitive inhibitor of calmodulin-dependent enzymes such as calcineurin in neurons.


ensembl_gene_id: ENSPPYP00000015699
symbol: FBXL2
gene_biotype: protein_coding
description:
  F-box/LRR-repeat protein 2; Calcium-activated substrate recognition component of the SCF (SKP1-cullin-F-box protein) E3 ubiquitin-protein ligase complex, SCF(FBXL2), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Unlike many F-box proteins, FBXL2 does not seem to target phosphodegron within its substrates but rather calmodulin-binding motifs and is thereby antagonized by calmodulin. This is the case for the cyclins CCND2 and CCND3 which polyubiquitination and subsequent degradation are inhibited by calmodulin. Through CCND2 and CCND3 degrad [...]


ensembl_gene_id: ENSPPYP00000015702
symbol: GLB1
gene_biotype: protein_coding
description:
  Beta-galactosidase; Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. Belongs to the glycosyl hydrolase 35 family.


ensembl_gene_id: ENSPPYP00000015707
symbol: DYNC1LI1
gene_biotype: protein_coding
description:
  Dynein light intermediate chain; 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. May play a role in binding dynein to membranous organelles or chromosomes.


ensembl_gene_id: ENSPPYP00000015709
symbol: CMTM6
gene_biotype: protein_coding
description:
  CKLF-like MARVEL transmembrane domain-containing protein 6; Master regulator of recycling and plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. Associates with both constitutive and IFNG-induced PD-L1/CD274 at recycling endosomes, where it protects PD-L1/CD274 from being targeted for lysosomal degradation, likely by preventing its ubiquitination. May stabilize PD-L1/CD274 expression on antigen presenting cells and potentiates inhibitory signaling by PDCD1/CD279, its receptor on T-cells, ultimately trigge [...]


ensembl_gene_id: ENSPPYP00000015713
symbol: GPD1L
gene_biotype: protein_coding
description:
  Glycerol-3-phosphate dehydrogenase 1-like protein; Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3- phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L; Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family.


ensembl_gene_id: ENSPPYP00000015718
symbol: TGFBR2
gene_biotype: protein_coding
description:
  TGF-beta receptor type-2; Transmembrane serine/threonine kinase forming with the TGF- beta type I serine/threonine kinase receptor, TGFBR1, the non- promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinoge [...]


ensembl_gene_id: ENSPPYP00000015720
symbol: RBMS3
gene_biotype: protein_coding
description:
  RNA-binding motif, single-stranded-interacting protein 3; Binds poly(A) and poly(U) oligoribonucleotides.


ensembl_gene_id: ENSPPYP00000015723
symbol: AZI2
gene_biotype: protein_coding
description:
  5-azacytidine-induced protein 2; Adapter protein which binds TBK1 and IKBKE playing a role in antiviral innate immunity (By similarity). Activates serine/threonine- protein kinase TBK1 and facilitates its oligomerization (By similarity). Enhances the phosphorylation of NF-kappa-B p65 subunit RELA by TBK1 (By similarity). Promotes TBK1-induced as well as TNF- alpha or PMA-induced activation of NF-kappa-B (By similarity). Participates in IFNB promoter activation via TICAM1 (By similarity).


ensembl_gene_id: ENSPPYP00000015730
symbol: OXSM
gene_biotype: protein_coding
description:
  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial; May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function. Belongs to the thiolase-like superfamily. Beta-ketoacyl-ACP synthases family.


ensembl_gene_id: ENSPPYP00000015754
symbol: DPH3
gene_biotype: protein_coding
description:
  DPH3 homolog; Essential for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in elongation factor 2 (EEF2) and which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta).


ensembl_gene_id: ENSPPYP00000015761
symbol: EAF1
gene_biotype: protein_coding
description:
  ELL-associated factor 1; Acts as a transcriptional transactivator of ELL and ELL2 elongation activities.


ensembl_gene_id: ENSPPYP00000015764
symbol: METTL6
gene_biotype: protein_coding
description:
  tRNA N(3)-methylcytidine methyltransferase METTL6; S-adenosyl-L-methionine-dependent methyltransferase that mediates N(3)-methylcytidine modification of residue 32 of the tRNA anticodon loop of tRNA(Ser).


ensembl_gene_id: ENSPPYP00000015770
symbol: PIK3R4
gene_biotype: protein_coding
description:
  Phosphoinositide 3-kinase regulatory subunit 4; Regulatory subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2 (By similarity).


ensembl_gene_id: ENSPPYP00000015772
symbol: ATP2C1
gene_biotype: protein_coding
description:
  Calcium-transporting ATPase type 2C member 1; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.


ensembl_gene_id: ENSPPYP00000015783
symbol: ACAD11
gene_biotype: protein_coding
description:
  Acyl-CoA dehydrogenase family member 11; Acyl-CoA dehydrogenase, that exhibits maximal activity towards saturated C22-CoA. Probably participates to beta-oxydation and energy production but could also play role in the metabolism of specific fatty acids to control fatty acids composition of cellular lipids in brain.


ensembl_gene_id: ENSPPYP00000015799
symbol: ANAPC13
gene_biotype: protein_coding
description:
  Anaphase-promoting complex subunit 13; 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 APC13 family.


ensembl_gene_id: ENSPPYP00000015800
symbol: CEP63
gene_biotype: protein_coding
description:
  Centrosomal protein of 63 kDa; Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Also recruits CDK1 to centrosomes (By similarity). Plays a role in DNA damage response. Following DNA damage, such as double- strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression (By similarity).


ensembl_gene_id: ENSPPYP00000015819
symbol: ARMC8
gene_biotype: protein_coding
description:
  Armadillo repeat-containing protein 8; 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.


ensembl_gene_id: ENSPPYP00000015824
symbol: CEP70
gene_biotype: protein_coding
description:
  Centrosomal protein of 70 kDa; Plays a role in the organization of both preexisting and nascent microtubules in interphase cells. During mitosis, required for the organization and orientation of the mitotic spindle (By similarity).


ensembl_gene_id: ENSPPYP00000015827
symbol: PIK3CB
gene_biotype: protein_coding
description:
  Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSPPYP00000015836
symbol: RBP2
gene_biotype: protein_coding
description:
  Retinol binding protein 2; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPPYP00000015874
symbol: HPS3
gene_biotype: protein_coding
description:
  Hermansky-Pudlak syndrome 3 protein homolog; Involved in early stages of melanosome biogenesis and maturation.


ensembl_gene_id: ENSPPYP00000015878
symbol: TM4SF4
gene_biotype: protein_coding
description:
  Transmembrane 4 L6 family member 4; Regulates the adhesive and proliferative status of intestinal epithelial cells. Can mediate density-dependent cell proliferation; Belongs to the L6 tetraspanin family.


ensembl_gene_id: ENSPPYP00000015880
symbol: COMMD2
gene_biotype: protein_coding
description:
  COMM domain-containing protein 2; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. May down-regulate activation of NF-kappa-B.


ensembl_gene_id: ENSPPYP00000015882
symbol: RNF13
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RNF13; E3 ubiquitin-protein ligase that may play a role in controlling cell proliferation. Involved in apoptosis regulation. Mediates ER stress-induced activation of JNK signaling pathway and apoptosis by promoting ERN1 activation and splicing of XBP1 mRNA.


ensembl_gene_id: ENSPPYP00000015884
symbol: PFN2
gene_biotype: protein_coding
description:
  Profilin-2; Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG (By similarity).


ensembl_gene_id: ENSPPYP00000015887
symbol: SERP1
gene_biotype: protein_coding
description:
  Stress-associated endoplasmic reticulum protein 1; Interacts with target proteins during their translocation into the lumen of the endoplasmic reticulum. Protects unfolded target proteins against degradation during ER stress. May facilitate glycosylation of target proteins after termination of ER stress. May modulate the use of N-glycosylation sites on target proteins (By similarity).


ensembl_gene_id: ENSPPYP00000015904
symbol: MME
gene_biotype: protein_coding
description:
  Neprilysin; Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids. Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond. Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9. Involved in the degradation of atrial natriuretic factor (ANF). Displays UV-inducible elastase activity toward skin preelastic and elastic fibers. Belongs to the peptidase M13 family.


ensembl_gene_id: ENSPPYP00000015913
symbol: SSR3
gene_biotype: protein_coding
description:
  Translocon-associated protein subunit gamma; 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: ENSPPYP00000015917
symbol: CCNL1
gene_biotype: protein_coding
description:
  Cyclin-L1; Involved in pre-mRNA splicing. Functions in association with cyclin-dependent kinases (CDKs). May play a role in the regulation of RNA polymerase II (pol II). Inhibited by the CDK-specific inhibitor CDKN1A/p21.


ensembl_gene_id: ENSPPYP00000015924
symbol: MLF1
gene_biotype: protein_coding
description:
  Myeloid leukemia factor 1; Involved in lineage commitment of primary hemopoietic progenitors by restricting erythroid formation and enhancing myeloid formation. Interferes with erythropoietin-induced erythroid terminal differentiation by preventing cells from exiting the cell cycle through suppression of CDKN1B/p27Kip1 levels. Suppresses COP1 activity via CSN3 which activates p53 and induces cell cycle arrest. Binds DNA and affects the expression of a number of genes so may function as a transcription factor in the nucleus (By similarity).


ensembl_gene_id: ENSPPYP00000015927
symbol: GFM1
gene_biotype: protein_coding
description:
  Elongation factor G, mitochondrial; Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mito [...]


ensembl_gene_id: ENSPPYP00000015935
symbol: IL12A
gene_biotype: protein_coding
description:
  Interleukin-12 subunit alpha; 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: ENSPPYP00000015944
symbol: B3GALNT1
gene_biotype: protein_coding
description:
  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1; Transfers N-acetylgalactosamine onto globotriaosylceramide. Plays a critical role in preimplantation stage embryonic development.


ensembl_gene_id: ENSPPYP00000015946
symbol: NMD3
gene_biotype: protein_coding
description:
  60S ribosomal export protein NMD3; Acts as an adapter for the XPO1/CRM1-mediated export of the 60S ribosomal subunit.


ensembl_gene_id: ENSPPYP00000015966
symbol: SEC62
gene_biotype: protein_coding
description:
  Translocation protein SEC62; Mediates post-translational transport of precursor polypeptides across endoplasmic reticulum (ER). Proposed to act as a targeting receptor for small presecretory proteins containing short and apolar signal peptides. Targets and properly positions newly synthesized presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen.


ensembl_gene_id: ENSPPYP00000015972
symbol: PRKCI
gene_biotype: protein_coding
description:
  Protein kinase C iota type; Calcium- and diacylglycerol-independent serine/ threonine- protein kinase that plays a general protective role against apoptotic stimuli, is involved in NF-kappa-B activation, cell survival, differentiation and polarity, and contributes to the regulation of microtubule dynamics in the early secretory pathway. Is necessary for BCR-ABL oncogene-mediated resistance to apoptotic drug in leukemia cells, protecting leukemia cells against drug-induced apoptosis. In cultured neurons, prevents amyloid beta protein-induced apoptosis by interrupting cell death process  [...]


ensembl_gene_id: ENSPPYP00000015973
symbol: SKIL
gene_biotype: protein_coding
description:
  Ski-like protein; May have regulatory role in cell division or differentiation in response to extracellular signals.


ensembl_gene_id: ENSPPYP00000015975
symbol: CLDN11
gene_biotype: protein_coding
description:
  Claudin-11; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.


ensembl_gene_id: ENSPPYP00000015978
symbol: EIF5A2
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 5A-2; mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. Functions as a regulator of apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation (By s [...]


ensembl_gene_id: ENSPPYP00000015979
symbol: SLC2A2
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 2; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPPYP00000015990
symbol: NCEH1
gene_biotype: protein_coding
description:
  Neutral cholesterol ester hydrolase 1; Hydrolyzes 2-acetyl monoalkylglycerol ether, the penultimate precursor of the pathway for de novo synthesis of platelet-activating factor. May be responsible for cholesterol ester hydrolysis in macrophages. Also involved in organ detoxification by hydrolyzing exogenous organophosphorus compounds (By similarity); Belongs to the 'GDXG' lipolytic enzyme family.


ensembl_gene_id: ENSPPYP00000016008
symbol: SLC35B2
gene_biotype: protein_coding
description:
  Adenosine 3'-phospho 5'-phosphosulfate transporter 1; 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 (By similarity); Belongs to the nucleotide-sugar transporter family. SLC35B subfamily.


ensembl_gene_id: ENSPPYP00000016014
symbol: MFN1
gene_biotype: protein_coding
description:
  MFN1 isoform 1; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPPYP00000016025
symbol: DNAJC19
gene_biotype: protein_coding
description:
  Mitochondrial import inner membrane translocase subunit TIM14; Probable 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. May act as a co-chaperone that stimulate the ATP-dependent activity (By similarity).


ensembl_gene_id: ENSPPYP00000016043
symbol: AP2M1
gene_biotype: protein_coding
description:
  AP-2 complex subunit mu; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but i [...]


ensembl_gene_id: ENSPPYP00000016045
symbol: ABCF3
gene_biotype: protein_coding
description:
  ATP-binding cassette sub-family F member 3; Displays an antiviral effect against flaviviruses such as west Nile virus (WNV) in the presence of OAS1B.


ensembl_gene_id: ENSPPYP00000016048
symbol: ALG3
gene_biotype: protein_coding
description:
  Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man(5)GlcNAc(2)-PP-Dol.


ensembl_gene_id: ENSPPYP00000016052
symbol: PSMD2
gene_biotype: protein_coding
description:
  26S proteasome non-ATPase regulatory subunit 2; 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.


ensembl_gene_id: ENSPPYP00000016056
symbol: POLR2H
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerases I, II, and III subunit RPABC3; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non- coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively.


ensembl_gene_id: ENSPPYP00000016058
symbol: CHRD
gene_biotype: protein_coding
description:
  Chordin; Dorsalizing factor. Key developmental protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta family bone morphogenetic proteins (BMPs) and sequestering them in latent complexes.


ensembl_gene_id: ENSPPYP00000016064
symbol: EHHADH
gene_biotype: protein_coding
description:
  Enoyl-CoA hydratase/3,2-trans-enoyl-CoA isomerase; In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.


ensembl_gene_id: ENSPPYP00000016066
symbol: MAP3K13
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase 13; Activates the JUN N-terminal pathway through activation of the MAP kinase kinase MAP2K7. Acts synergistically with PRDX3 to regulate the activation of NF-kappa-B in the cytosol. This activation is kinase-dependent and involves activating the IKK complex, the IKBKB- containing complex that phosphorylates inhibitors of NF-kappa-B (By similarity).


ensembl_gene_id: ENSPPYP00000016070
symbol: SENP2
gene_biotype: protein_coding
description:
  Sentrin-specific protease 2; Protease that catalyzes two essential functions in the SUMO pathway. The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins. The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein. May down-regulate CTNNB1 levels and thereby modulate th [...]


ensembl_gene_id: ENSPPYP00000016078
symbol: IGF2BP2
gene_biotype: protein_coding
description:
  Insulin-like growth factor 2 mRNA-binding protein 2; RNA-binding factor that recruits target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation (By similarity). Binds to the 5'-UTR of the insulin-like growth factor 2 (IGF2) mRNAs. Binding is isoform- specific. Binds to beta-actin/ACTB and MYC transcripts (By similarity). [...]


ensembl_gene_id: ENSPPYP00000016085
symbol: DNAJB11
gene_biotype: protein_coding
description:
  DnaJ homolog subfamily B member 11; As a co-chaperone for HSPA5 it is required for proper folding, trafficking or degradation of proteins. Binds directly to both unfolded proteins that are substrates for ERAD and nascent unfolded peptide chains, but dissociates from the HSPA5-unfolded protein complex before folding is completed. May help recruiting HSPA5 and other chaperones to the substrate. Stimulates HSPA5 ATPase activity. It is necessary for maturation and correct trafficking of PKD1.


ensembl_gene_id: ENSPPYP00000016089
symbol: EIF4A2
gene_biotype: protein_coding
description:
  Eukaryotic initiation factor 4A-II; ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon (By similarity).


ensembl_gene_id: ENSPPYP00000016106
symbol: TP63
gene_biotype: protein_coding
description:
  Tumor protein 63 (p63); Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes.


ensembl_gene_id: ENSPPYP00000016126
symbol: OPA1
gene_biotype: protein_coding
description:
  Dynamin-like 120 kDa protein, mitochondrial; Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission. Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation. The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes (By similarity). Plays a role in remodeling cristae and the release of cytochrome c during apoptosis (By similarity). Proteolytic processing in response to intri [...]


ensembl_gene_id: ENSPPYP00000016144
symbol: TFRC
gene_biotype: protein_coding
description:
  Transferrin receptor protein 1; Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). Positively regulates T and B cell proliferation through iron uptake (By similarity).


ensembl_gene_id: ENSPPYP00000016149
symbol: UBXN7
gene_biotype: protein_coding
description:
  UBX domain-containing protein 7; Ubiquitin-binding adapter that links a subset of NEDD8- associated cullin ring ligases (CRLs) to the segregase VCP/p97, to regulate turnover of their ubiquitination substrates (By similarity).


ensembl_gene_id: ENSPPYP00000016150
symbol: RNF168
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RNF168; E3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at double-strand breaks (DSBs) by binding to ubiquitinated histone H2A and H2AX and amplifies the RNF8-dependent H2A ubiquitination, promoting the formation of 'Lys-63'-linked ubiquitin conjugates. This leads to concentrate ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and BRCA1. Also recrui [...]


ensembl_gene_id: ENSPPYP00000016158
symbol: NCBP2
gene_biotype: protein_coding
description:
  Nuclear cap-binding protein subunit 2; Component of the cap-binding complex (CBC), which binds co- transcriptionally to the 5' cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense- mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus, leading to the recruitment of the mRNA export machinery to the 5' end of mRNA and to mRNA export in a 5' to 3' direction through the nuclear pore. The CBC complex is also involved in mediating U [...]


ensembl_gene_id: ENSPPYP00000016170
symbol: RPL35A
gene_biotype: protein_coding
description:
  60S ribosomal protein L35a; Required for the proliferation and viability of hematopoietic cells. Plays a role in 60S ribosomal subunit formation. The protein was found to bind to both initiator and elongator tRNAs and consequently was assigned to the P site or P and A site.


ensembl_gene_id: ENSPPYP00000016199
symbol: CCR5
gene_biotype: protein_coding
description:
  C-C chemokine receptor type 5; Receptor for a number of inflammatory CC-chemokines including MIP-1-alpha, MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level. May play a role in the control of granulocytic lineage proliferation or differentiation (By similarity).


ensembl_gene_id: ENSPPYP00000016213
symbol: ATP5ME
gene_biotype: protein_coding
description:
  ATP synthase subunit e, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the cent [...]


ensembl_gene_id: ENSPPYP00000016224
symbol: SLC26A1
gene_biotype: protein_coding
description:
  Sulfate anion transporter 1; Mediates sulfate transport with high affinity. Mediates oxalate transport. Mediates bicarbonate transport. Does not accept succinate as cosubstrate; Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSPPYP00000016233
symbol: MAEA
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein transferase MAEA; Core 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. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex. MAEA is required for normal cell proliferation. The CTLH E3 ubiquitin- protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (By similarity). Plays a role in erythroblast enucleat [...]


ensembl_gene_id: ENSPPYP00000016255
symbol: ADD1
gene_biotype: protein_coding
description:
  Alpha-adducin; Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin (By similarity); Belongs to the aldolase class II family. Adducin subfamily.


ensembl_gene_id: ENSPPYP00000016282
symbol: GRPEL1
gene_biotype: protein_coding
description:
  GrpE protein homolog 1, 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 (By similarity).


ensembl_gene_id: ENSPPYP00000016284
symbol: TADA2B
gene_biotype: protein_coding
description:
  Transcriptional adapter 2-beta; Coactivates PAX5-dependent transcription together with either SMARCA4 or GCN5L2.


ensembl_gene_id: ENSPPYP00000016308
symbol: STX18
gene_biotype: protein_coding
description:
  Syntaxin-18; Syntaxin that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER.


ensembl_gene_id: ENSPPYP00000016310
symbol: NSG1
gene_biotype: protein_coding
description:
  Neuronal vesicle trafficking-associated protein 1; Plays a role in the recycling mechanism in neurons of multiple receptors, including AMPAR, APP and L1CAM and acts at the level of early endosomes to promote sorting of receptors toward a recycling pathway. Regulates sorting and recycling of GRIA2 through interaction with GRIP1 and then contributes to the regulation of synaptic transmission and plasticity by affecting the recycling and targeting of AMPA receptors to the synapse (By similarity). Is required for faithful sorting of L1CAM to axons by facilitating trafficking from somatoden [...]


ensembl_gene_id: ENSPPYP00000016315
symbol: SLC2A9
gene_biotype: protein_coding
description:
  Solute carrier family 2, facilitated glucose transporter member 9; Urate transporter, which may play a role in the urate reabsorption by proximal tubules (By similarity). Does not transport glucose, fructose or galactose (By similarity).


ensembl_gene_id: ENSPPYP00000016331
symbol: FBXL5
gene_biotype: protein_coding
description:
  F-box/LRR-repeat protein 5; Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in iron homeostasis by promoting the ubiquitination and subsequent degradation of IREB2/IRP2. Upon high iron and oxygen level, it specifically recognizes and binds IREB2/IRP2, promoting its ubiquitination and degradation by the proteasome. Promotes ubiquitination and subsequent degradation of DCTN1/p150-glued (By similarity).


ensembl_gene_id: ENSPPYP00000016355
symbol: GBA3
gene_biotype: protein_coding
description:
  Cytosolic beta-glucosidase; Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides. Has a significant glucosylceramidase activity in vitro. However, that activity is relatively low and its significance in vivo is not clear. Also able to hydrolyze galactosylceramide/GalCer, glucosylsphingosine/GlcSph and galactosylsphingosine/GalSph. However, the in vivo relevance of these activities is unclear. It can also hydrolyze a broad variety of dietary glycosides including phytoestrogens, flavonols, flavones, flavanones [...]


ensembl_gene_id: ENSPPYP00000016358
symbol: DHX15
gene_biotype: protein_coding
description:
  Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15; Pre-mRNA processing factor involved in disassembly of spliceosomes after the release of mature mRNA. In cooperation with TFIP11 seem to be involved in the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns (By similarity). Belongs to the DEAD box helicase family. DEAH subfamily. DDX15/PRP43 sub-subfamily.


ensembl_gene_id: ENSPPYP00000016363
symbol: SEPSECS
gene_biotype: protein_coding
description:
  O-phosphoseryl-tRNA(Sec) selenium transferase; Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl- tRNA(Sec) required for selenoprotein biosynthesis. Belongs to the SepSecS family.


ensembl_gene_id: ENSPPYP00000016367
symbol: ZCCHC4
gene_biotype: protein_coding
description:
  Anaphase-promoting complex subunit 4; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (By similarity).


ensembl_gene_id: ENSPPYP00000016368
symbol: SLC34A2
gene_biotype: protein_coding
description:
  Sodium-dependent phosphate transport protein 2B; May be involved in actively transporting phosphate into cells via Na(+) cotransport. It may be the main phosphate transport protein in the intestinal brush border membrane. May have a role in the synthesis of surfactant in lungs' alveoli (By similarity). Belongs to the SLC34A transporter family.


ensembl_gene_id: ENSPPYP00000016373
symbol: RBPJ
gene_biotype: protein_coding
description:
  Recombining binding protein suppressor of hairless; Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling  [...]


ensembl_gene_id: ENSPPYP00000016381
symbol: PGM2
gene_biotype: protein_coding
description:
  Phosphoglucomutase-2; Catalyzes the conversion of the nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to the corresponding 5- phosphopentoses. May also catalyze the interconversion of glucose-1- phosphate and glucose-6-phosphate. Has low glucose 1,6-bisphosphate synthase activity (By similarity).


ensembl_gene_id: ENSPPYP00000016395
symbol: LIAS
gene_biotype: protein_coding
description:
  Lipoyl synthase, mitochondrial; Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives.


ensembl_gene_id: ENSPPYP00000016396
symbol: UGDH
gene_biotype: protein_coding
description:
  UDP-glucose 6-dehydrogenase; Catalyzes the formation of UDP-alpha-D-glucuronate, a constituent of complex glycosaminoglycans (By similarity). Required for the biosynthesis of chondroitin sulfate and heparan sulfate. Required for embryonic development via its role in the biosynthesis of glycosaminoglycans (By similarity).


ensembl_gene_id: ENSPPYP00000016409
symbol: NSUN7
gene_biotype: protein_coding
description:
  NOP2/Sun RNA methyltransferase family member 7; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPPYP00000016418
symbol: SLC30A9
gene_biotype: protein_coding
description:
  Zinc transporter 9; Acts as a zinc transporter involved in intracellular zinc homeostasis. Functions as a secondary coactivator for nuclear receptors by cooperating with p160 coactivators subtypes. Plays a role in transcriptional activation of Wnt-responsive genes.


ensembl_gene_id: ENSPPYP00000016424
symbol: GUF1
gene_biotype: protein_coding
description:
  Translation factor GUF1, mitochondrial; Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner.


ensembl_gene_id: ENSPPYP00000016431
symbol: GABRB1
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor beta1 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPPYP00000016437
symbol: NIPAL1
gene_biotype: protein_coding
description:
  Magnesium transporter NIPA3; Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). Belongs to the NIPA family.


ensembl_gene_id: ENSPPYP00000016445
symbol: OCIAD1
gene_biotype: protein_coding
description:
  OCIA domain-containing protein 1; Maintains stem cell potency (By similarity). Increases STAT3 phosphorylation and controls ERK phosphorylation (By similarity). May act as a scaffold, increasing STAT3 recruitment onto endosomes (By similarity).


ensembl_gene_id: ENSPPYP00000016475
symbol: SRP72
gene_biotype: protein_coding
description:
  Signal recognition particle subunit SRP72; Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane; Belongs to the SRP72 family.


ensembl_gene_id: ENSPPYP00000016477
symbol: PAICS
gene_biotype: protein_coding
description:
  Phosphoribosylaminoimidazole-succinocarboxamide synthase; In the C-terminal section; belongs to the AIR carboxylase family. Class II subfamily.


ensembl_gene_id: ENSPPYP00000016487
symbol: CLOCK
gene_biotype: protein_coding
description:
  Circadian locomoter output cycles protein kaput; Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine,  [...]


ensembl_gene_id: ENSPPYP00000016492
symbol: KIT
gene_biotype: protein_coding
description:
  Mast/stem cell growth factor receptor; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSPPYP00000016499
symbol: FIP1L1
gene_biotype: protein_coding
description:
  Pre-mRNA 3'-end-processing factor FIP1; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. FIP1L1 contributes to poly(A) site recognition and stimulates poly(A) addition. Binds to U-rich RNA sequence elements surrounding the poly(A) site. May act to tether poly(A) polymerase to the CPSF complex (By similarity).


ensembl_gene_id: ENSPPYP00000016505
symbol: USP46
gene_biotype: protein_coding
description:
  Ubiquitin carboxyl-terminal hydrolase 46; Deubiquitinating enzyme that plays a role in behavior, possibly by regulating GABA action. May act by mediating the deubiquitination of GAD1/GAD67 (By similarity). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity. Not involved in deubiquitination of monoubiquitinated FANCD2 (By similarity). Belongs to the peptidase C19 family. USP12/USP46 subfamily.


ensembl_gene_id: ENSPPYP00000016507
symbol: SGCB
gene_biotype: protein_coding
description:
  Beta-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: ENSPPYP00000016512
symbol: UGT2A3
gene_biotype: protein_coding
description:
  UDP-glucuronosyltransferase 2A3; UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity).


ensembl_gene_id: ENSPPYP00000016528
symbol: CSN3
gene_biotype: protein_coding
description:
  Kappa-casein; Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk; Belongs to the kappa-casein family.


ensembl_gene_id: ENSPPYP00000016540
symbol: RUFY3
gene_biotype: protein_coding
description:
  Protein RUFY3; Plays a role in the generation of neuronal polarity formation and axon growth. Implicated in the formation of a single axon by developing neurons. May inhibit the formation of additional axons by inhibition of PI3K in minor neuronal processes. Plays a role in the formation of F-actin-enriched protrusive structures at the cell periphery. Plays a role in cytoskeletal organization by regulating the subcellular localization of FSCN1 and DBN1 at axonal growth cones. Promotes gastric cancer cell migration and invasion in a PAK1-dependent manner.


ensembl_gene_id: ENSPPYP00000016549
symbol: COX18
gene_biotype: protein_coding
description:
  Cytochrome c oxidase assembly protein COX18, mitochondrial; Mitochondrial membrane insertase required for the translocation of the C-terminus of cytochrome c oxidase subunit II (MT- CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT- CO2/COX2 maturation following the COX20-mediated stabilization of newly synthesized MT-CO2/COX2 protein and before the action of the metallochaperones SCO1/2. Essential for the assembly and stability of the mitochondrial respiratory chain complex IV (also known as cytochrome c oxidase).


ensembl_gene_id: ENSPPYP00000016551
symbol: ALB
gene_biotype: protein_coding
description:
  Serum albumin; Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc (By similarity). Major calcium and magnesium transporter in plasma, binds approximately 45% of circulating calcium and magnesium in plasma (By similarity). Potentially has more than two calcium-binding sites and might additionally bind calcium in a non-specific manner (B [...]


ensembl_gene_id: ENSPPYP00000016570
symbol: PARM1
gene_biotype: protein_coding
description:
  Prostate androgen-regulated mucin-like protein 1 homolog; May regulate TLP1 expression and telomerase activity, thus enabling certain prostatic cells to resist apoptosis.


ensembl_gene_id: ENSPPYP00000016576
symbol: CDKL2
gene_biotype: protein_coding
description:
  Cyclin-dependent kinase-like 2; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.


ensembl_gene_id: ENSPPYP00000016578
symbol: G3BP2
gene_biotype: protein_coding
description:
  Ras GTPase-activating protein-binding protein 2; Scaffold protein that plays an essential role in cytoplasmic stress granule formation which acts as a platform for antiviral signaling.


ensembl_gene_id: ENSPPYP00000016585
symbol: SDAD1
gene_biotype: protein_coding
description:
  Protein SDA1; Required for 60S pre-ribosomal subunits export to the cytoplasm; Belongs to the SDA1 family.


ensembl_gene_id: ENSPPYP00000016596
symbol: SEPTIN11
gene_biotype: protein_coding
description:
  Septin-11; Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in the cytoarchitecture of neurons, including dendritic arborization and dendritic spines, and in GABAergic synaptic connectivity (By similarity).


ensembl_gene_id: ENSPPYP00000016618
symbol: RASGEF1B
gene_biotype: protein_coding
description:
  Ras-GEF domain-containing family member 1B; Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, it doesn't seems to activate other Ras family proteins (in vitro).


ensembl_gene_id: ENSPPYP00000016622
symbol: ENOPH1
gene_biotype: protein_coding
description:
  Enolase-phosphatase E1; Bifunctional enzyme that catalyzes the enolization of 2,3- diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P) into the intermediate 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate (HK- MTPenyl-1-P), which is then dephosphorylated to form the acireductone 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene).


ensembl_gene_id: ENSPPYP00000016625
symbol: SEC31A
gene_biotype: protein_coding
description:
  Protein transport protein Sec31A; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER) (By similarity). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity).


ensembl_gene_id: ENSPPYP00000016629
symbol: LIN54
gene_biotype: protein_coding
description:
  Protein lin-54 homolog; Component of the DREAM complex, a multiprotein complex that can both act as a transcription activator or repressor depending on the context. In G0 phase, the complex binds to more than 800 promoters and is required for repression of E2F target genes. In S phase, the complex selectively binds to the promoters of G2/M genes whose products are required for mitosis and participates in their cell cycle dependent activation. In the complex, acts as a DNA-binding protein that binds the promoter of CDK1 in a sequence-specific manner. Specifically recognizes the consensu [...]


ensembl_gene_id: ENSPPYP00000016631
symbol: COPS4
gene_biotype: protein_coding
description:
  COP9 signalosome complex subunit 4; 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). Also involved in the deneddylation of non-cullin subunits such as STON2 (By similarity). The complex is also involved in phosphorylation of p53 [...]


