# geneInfo

ensembl_gene_id: ENSPTRP00000056769
symbol: ZRANB2
gene_biotype: protein_coding
description:
  Zinc finger Ran-binding domain-containing protein 2; May interfere with constitutive 5'-splice site selection. Belongs to the ZRANB2 family.


ensembl_gene_id: ENSPTRP00000056938
symbol: RING1
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RING1; Constitutes one of the E3 ubiquitin-protein ligases that mediate monoubiquitination of 'Lys-119' of histone H2A, thereby playing a central role in histone code and gene regulation. H2A 'Lys-119' ubiquitination gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. Essential component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG P [...]


ensembl_gene_id: ENSPTRP00000056988
symbol: HTR1E
gene_biotype: protein_coding
description:
  5-hydroxytryptamine receptor 1E; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various alkaloids and psychoactive substances. 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: ENSPTRP00000057009
symbol: CCL3
gene_biotype: protein_coding
description:
  C-C motif chemokine 3; Monokine with inflammatory and chemokinetic properties. Binds to CCR1, CCR4 and CCR5 (By similarity); Belongs to the intercrine beta (chemokine CC) family.


ensembl_gene_id: ENSPTRP00000057026
symbol: KCNK2
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 2; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSPTRP00000057096
symbol: AVPR2
gene_biotype: protein_coding
description:
  Vasopressin V2 receptor; Involved in renal water reabsorption. Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase; Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.


ensembl_gene_id: ENSPTRP00000057110
symbol: KLRD1
gene_biotype: protein_coding
description:
  Natural killer cells antigen CD94; Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.


ensembl_gene_id: ENSPTRP00000057240
symbol: TPI1
gene_biotype: protein_coding
description:
  Triosephosphate isomerase; Triosephosphate isomerase is an extremely efficient metabolic enzyme that catalyzes the interconversion between dihydroxyacetone phosphate (DHAP) and D-glyceraldehyde-3-phosphate (G3P) in glycolysis and gluconeogenesis.


ensembl_gene_id: ENSPTRP00000057470
symbol: DNMT3A
gene_biotype: protein_coding
description:
  DNA methyltransferase 3 alpha; Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.


ensembl_gene_id: ENSPTRP00000057773
symbol: CACNA1I
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: ENSPTRP00000057853
symbol: RNF8
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RNF8; E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by mediating the 'Lys-63'-linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair proteins at double-strand breaks (DSBs) sites, and by catalyzing 'Lys-48'-linked ubiquitination to remove target proteins from DNA damage sites. Following DNA DSBs, it is recruited to the sites of damage by ATM-phosphorylated MDC1 and catalyzes the 'Lys-63'-linked ubiquitination of histones H2A and H2AX, thereby promoting the formation of TP53 [...]


ensembl_gene_id: ENSPTRP00000057950
symbol: HBG2
gene_biotype: protein_coding
description:
  Hemoglobin subunit gamma-2; Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.


ensembl_gene_id: ENSPTRP00000057993
symbol: MAP3K7
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase 7; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.


ensembl_gene_id: ENSPTRP00000058036
symbol: DPP6
gene_biotype: protein_coding
description:
  Dipeptidyl aminopeptidase-like protein 6; Promotes cell surface expression of the potassium channel KCND2. Modulates the activity and gating characteristics of the potassium channel KCND2. Has no dipeptidyl aminopeptidase activity. Belongs to the peptidase S9B family.


ensembl_gene_id: ENSPTRP00000058183
symbol: TOP1MT
gene_biotype: protein_coding
description:
  DNA topoisomerase I, mitochondrial; Releases the supercoiling and torsional tension of DNA introduced during duplication of mitochondrial DNA by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target 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 rotates around the intact phosphodiester bond on the opposing strand, [...]


ensembl_gene_id: ENSPTRP00000058292
symbol: ACTB
gene_biotype: protein_coding
description:
  Actin, cytoplasmic 1, N-terminally processed; Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells. Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction. In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA.


ensembl_gene_id: ENSPTRP00000058391
symbol: ATP6V1C1
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: ENSPTRP00000058761
symbol: NDUFA6
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Required for proper complex I assembly. 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: ENSPTRP00000058789
symbol: ERVFRD-1
gene_biotype: protein_coding
description:
  Transmembrane protein; This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. The interaction with MFSD2A is apparently important for this process (By similarity).


ensembl_gene_id: ENSPTRP00000058845
symbol: SLX1A
gene_biotype: protein_coding
description:
  Structure-specific endonuclease subunit SLX1; Catalytic subunit of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products.


ensembl_gene_id: ENSPTRP00000059008
symbol: GABRG2
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor gamma2 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000059166
symbol: DDOST
gene_biotype: protein_coding
description:
  Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across t [...]


ensembl_gene_id: ENSPTRP00000059228
symbol: MBOAT7
gene_biotype: protein_coding
description:
  Membrane bound O-acyltransferase domain containing 7; Belongs to the membrane-bound acyltransferase family.


ensembl_gene_id: ENSPTRP00000059348
symbol: ST6GALNAC3
gene_biotype: protein_coding
description:
  ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSPTRP00000059579
symbol: KLRC1
gene_biotype: protein_coding
description:
  NKG2-A/NKG2-B type II integral membrane protein; Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.


ensembl_gene_id: ENSPTRP00000060050
symbol: ATP6V1F-2
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit F; Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.


ensembl_gene_id: ENSPTRP00000060060
symbol: LOC735922
gene_biotype: protein_coding
description:
  Translationally-controlled tumor protein; Involved in calcium binding and microtubule stabilization.


ensembl_gene_id: ENSPTRP00000060099
symbol: TAF10
gene_biotype: protein_coding
description:
  Transcription initiation factor TFIID subunit 10; TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors; Belongs to the TAF10 family.


ensembl_gene_id: ENSPTRP00000060183
symbol: PGD
gene_biotype: protein_coding
description:
  6-phosphogluconate dehydrogenase, decarboxylating; Catalyzes the oxidative decarboxylation of 6-phosphogluconate to ribulose 5-phosphate and CO(2), with concomitant reduction of NADP to NADPH.


ensembl_gene_id: ENSPTRP00000060251
symbol: ZNF80
gene_biotype: protein_coding
description:
  Zinc finger protein 80; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPTRP00000060385
symbol: BDNF
gene_biotype: protein_coding
description:
  Brain-derived neurotrophic factor; Important signaling molecule that activates signaling cascades downstream of NTRK2 (By similarity). During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS. The versatility of BDNF is emphasized by its contribution to a range of adaptive neuronal responses including lo [...]


ensembl_gene_id: ENSPTRP00000060483
symbol: SLC25A5
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Mitochondrial carrier adenine nucleotide translocator), member 5; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000060554
symbol: ATN1
gene_biotype: protein_coding
description:
  Atrophin-1; Transcriptional corepressor. Corepressor of MTG8 transcriptional repression. Recruits NR2E1 to repress transcription. Has some intrinsic repression activity. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity).


ensembl_gene_id: ENSPTRP00000060660
symbol: CD1D
gene_biotype: protein_coding
description:
  Antigen-presenting glycoprotein CD1d; Antigen-presenting protein that binds self and non-self glycolipids and presents them to T-cell receptors on natural killer T- cells.


ensembl_gene_id: ENSPTRP00000060721
symbol: GLTP-2
gene_biotype: protein_coding
description:
  Glycolipid transfer protein; Accelerates the intermembrane transfer of various glycolipids. Catalyzes the transfer of various glycosphingolipids between membranes but does not catalyze the transfer of phospholipids. May be involved in the intracellular translocation of glucosylceramides (By similarity).


ensembl_gene_id: ENSPTRP00000060829
symbol: MED21
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 21; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPTRP00000060846
symbol: CAV2
gene_biotype: protein_coding
description:
  Caveolin-2; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Acts as an accessory protein in conjunction with CAV1 in targeting to lipid rafts and driving caveolae formation. The Ser-36 phosphorylated form has a role in modulating mitosis in endothelial cells. Positive regulator of cellular mitogenesis of the MAPK signaling pathway. Required for the insulin-stimulated nuclear translocation and activation of MAPK1 and STAT3, and the subsequent regulation of cell cycle progression (B [...]


ensembl_gene_id: ENSPTRP00000060873
symbol: DUSP21
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 21; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPTRP00000060941
symbol: LOC746306
gene_biotype: protein_coding
description:
  Heterogeneous nuclear ribonucleoprotein A1, N-terminally processed; Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and may modulate splice site selection. May bind to specific miRNA hairpins. Binds to the IRES and thereby inhibits the translation of the apoptosis protease activating factor APAF1.


ensembl_gene_id: ENSPTRP00000061123
symbol: AVPR1A
gene_biotype: protein_coding
description:
  Vasopressin V1a receptor; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system. Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.


ensembl_gene_id: ENSPTRP00000061222
symbol: KCND3
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel, Shal-related subfamily, member 3; Belongs to the potassium channel family.


ensembl_gene_id: ENSPTRP00000061304
symbol: KCNS2
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily S member 2; Belongs to the potassium channel family.


ensembl_gene_id: ENSPTRP00000061398
symbol: ND4
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 4; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).


ensembl_gene_id: ENSPTRP00000061399
symbol: ATP6
gene_biotype: protein_coding
description:
  ATP synthase subunit a; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subuni [...]


ensembl_gene_id: ENSPTRP00000061400
symbol: ATP8
gene_biotype: protein_coding
description:
  ATP synthase protein 8; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subuni [...]


ensembl_gene_id: ENSPTRP00000061401
symbol: ND3
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 3; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).


ensembl_gene_id: ENSPTRP00000061402
symbol: COX2
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 2; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and t [...]


ensembl_gene_id: ENSPTRP00000061403
symbol: ND5
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 5; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).


ensembl_gene_id: ENSPTRP00000061404
symbol: COX3
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 3; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and t [...]


ensembl_gene_id: ENSPTRP00000061405
symbol: CYTB
gene_biotype: protein_coding
description:
  Cytochrome b; Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.


ensembl_gene_id: ENSPTRP00000061406
symbol: ND2
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 2; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).


ensembl_gene_id: ENSPTRP00000061407
symbol: MT-ND1
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 1; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).


ensembl_gene_id: ENSPTRP00000061408
symbol: COX1
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 1; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and t [...]


ensembl_gene_id: ENSPTRP00000061409
symbol: ND4L
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 4L; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).


ensembl_gene_id: ENSPTRP00000061410
symbol: ND6
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 6; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).


ensembl_gene_id: ENSPTRP00000061491
symbol: GABRA2
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor alpha2 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000061524
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. Acts via IRAK1, IRAK2, IRF7 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Increases IL-8 transcription. Involved in IL-18-mediated signaling pathway. Activates IRF1 resulting in its rapid migration into the nucleus to mediate an efficient induction of IFN-beta, NOS2/INOS, and IL12A genes (By similarity). MyD88-mediated signaling in intestinal epithelial cells is cruc [...]


ensembl_gene_id: ENSPTRP00000061698
symbol: NDUFA11
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11; 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: ENSPTRP00000061794
symbol: SLC25A15
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Mitochondrial carrier ornithine transporter) member 15; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000061816
symbol: SNRPE
gene_biotype: protein_coding
description:
  Small nuclear ribonucleoprotein E; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. As part of the U7 snRNP it is involved in histone 3'-end processing. May indirectly play a role in hair development.


ensembl_gene_id: ENSPTRP00000062004
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: ENSPTRP00000062143
symbol: KDM1A
gene_biotype: protein_coding
description:
  Lysine-specific histone demethylase; Histone demethylase that demethylates both 'Lys-4' (H3K4me) and 'Lys-9' (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Acts as a corepressor by mediating demethylation of H3K4me, a specific tag for epigenetic transcriptional activation. Demethylates both mono- (H3K4me1) and di-methylated (H3K4me2) H3K4me; Belongs to the flavin monoamine oxidase family.


ensembl_gene_id: ENSPTRP00000062259
symbol: HPR
gene_biotype: protein_coding
description:
  Haptoglobin-related protein; Primate-specific plasma protein associated with apolipoprotein L-I (apoL-I)-containing high-density lipoprotein (HDL). Binds hemoglobin with high affinity and may contribute to the clearance of cell-free hemoglobin to allow hepatic recycling of heme iron.


ensembl_gene_id: ENSPTRP00000062369
symbol: FPR3
gene_biotype: protein_coding
description:
  N-formyl peptide receptor 3; Low affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophils chemotactic factors. Binding of FMLP to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system.


ensembl_gene_id: ENSPTRP00000062496
symbol: DRD3
gene_biotype: protein_coding
description:
  D(3) dopamine receptor; Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase. Promotes cell proliferation (By similarity).


ensembl_gene_id: ENSPTRP00000062580
symbol: PAK3
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase PAK 3; Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, or cell cycle regulation. Plays a role in dendrite spine morphogenesis as well as synapse formation and plasticity. Acts as downstream effector of the small GTPases CDC42 and RAC1. Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates MAPK4 and MAPK6 and activates the downstrea [...]


ensembl_gene_id: ENSPTRP00000062627
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: ENSPTRP00000062753
symbol: HSD17B1
gene_biotype: protein_coding
description:
  Estradiol 17-beta-dehydrogenase 1; Favors the reduction of estrogens and androgens. Also has 20- alpha-HSD activity. Uses preferentially NADH; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000062766
symbol: CLP1
gene_biotype: protein_coding
description:
  Polyribonucleotide 5'-hydroxyl-kinase Clp1; Polynucleotide kinase that can phosphorylate the 5'-hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA:RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA:RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3'-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5'-terminus of the tRNA 3'-exon during tRNA splicing; thi [...]


ensembl_gene_id: ENSPTRP00000062790
symbol: TAS2R46
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 46; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency (By similarity).


ensembl_gene_id: ENSPTRP00000062799
symbol: ADCY7
gene_biotype: protein_coding
description:
  Adenylate cyclase type 7; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSPTRP00000063097
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: ENSPTRP00000063228
symbol: MAP2K1
gene_biotype: protein_coding
description:
  Dual specificity mitogen-activated protein kinase kinase 1; Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of a threonine and a tyrosine resid [...]


ensembl_gene_id: ENSPTRP00000063339
symbol: PRMT5
gene_biotype: protein_coding
description:
  Protein arginine N-methyltransferase 5; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA); Belongs to the class I-like SAM-binding methyltransferase superfamily.


ensembl_gene_id: ENSPTRP00000063364
symbol: COX5A-2
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 5A, 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: ENSPTRP00000063417
symbol: ROCK2
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: ENSPTRP00000063456
symbol: AGTR1
gene_biotype: protein_coding
description:
  Type-1 angiotensin II receptor; Receptor for angiotensin II. Mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system (By similarity); Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000063559
symbol: ASAH1
gene_biotype: protein_coding
description:
  Acid ceramidase subunit alpha; Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (By similarity). Ceramides, sphingosine, and its phosphorylated form sphingosine-1- phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (By similarity). Has a higher catalytic efficiency towards C12-ceramides versus other ceramides (By similarity). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatt [...]


ensembl_gene_id: ENSPTRP00000063655
symbol: EIF3B
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit B; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is involved in protein synthesis and, together with other initiation factors, stimulates binding of mRNA and methionyl-tRNAi to the 40S ribosome; Belongs to the eIF-3 subunit B family.


ensembl_gene_id: ENSPTRP00000063710
symbol: DNAAF4
gene_biotype: protein_coding
description:
  Dynein assembly factor 4, axonemal; Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity. Axonemal dynein assembly factor required for ciliary motility (By similarity).


ensembl_gene_id: ENSPTRP00000063720
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: ENSPTRP00000063931
symbol: CHCHD3
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: ENSPTRP00000063939
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: ENSPTRP00000064039
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: ENSPTRP00000064068
symbol: GUCY1B1
gene_biotype: protein_coding
description:
  Guanylate cyclase 1 soluble subunit beta 1; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.


ensembl_gene_id: ENSPTRP00000064114
symbol: LOC461536
gene_biotype: protein_coding
description:
  40S ribosomal protein S3a; May play a role during erythropoiesis through regulation of transcription factor DDIT3.


ensembl_gene_id: ENSPTRP00000064174
symbol: SLC8A1
gene_biotype: protein_coding
description:
  Solute carrier family 8 member A1; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSPTRP00000064198
symbol: SCNN1A
gene_biotype: protein_coding
description:
  Amiloride-sensitive sodium channel subunit alpha; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and eccrine sweat glands. Also plays a role in taste perception.


ensembl_gene_id: ENSPTRP00000064347
symbol: GPN3
gene_biotype: protein_coding
description:
  GPN-loop GTPase 3; Small GTPase required for proper nuclear import of RNA polymerase II and III (RNAPII and RNAPIII). May act at an RNAP assembly step prior to nuclear import; Belongs to the GPN-loop GTPase family.


ensembl_gene_id: ENSPTRP00000064370
symbol: AFF2
gene_biotype: protein_coding
description:
  AF4/FMR2 family member 2; RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure (By similarity); Belongs to the AF4 family.


ensembl_gene_id: ENSPTRP00000064414
symbol: RAG1
gene_biotype: protein_coding
description:
  V(D)J recombination-activating protein 1; Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T- lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break  [...]


ensembl_gene_id: ENSPTRP00000064489
symbol: NUBP2
gene_biotype: protein_coding
description:
  Cytosolic Fe-S cluster assembly factor NUBP2; Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery. Required for maturation of extramitochondrial Fe-S proteins. The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins; Belongs to the Mrp/NBP35 ATP-binding proteins family. NUBP2/CFD1 subfamily.


ensembl_gene_id: ENSPTRP00000064687
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: ENSPTRP00000064772
symbol: TP73
gene_biotype: protein_coding
description:
  Tumor protein p73; Participates in the apoptotic response to DNA damage. Isoforms containing the transactivation domain are pro-apoptotic, isoforms lacking the domain are anti-apoptotic and block the function of p53 and transactivating p73 isoforms. May be a tumor suppressor protein.


ensembl_gene_id: ENSPTRP00000064780
symbol: ALDOA
gene_biotype: protein_coding
description:
  Fructose-bisphosphate aldolase A; Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity). Belongs to the class I fructose-bisphosphate aldolase family.


ensembl_gene_id: ENSPTRP00000064836
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: ENSPTRP00000064840
symbol: WNT7A
gene_biotype: protein_coding
description:
  Protein Wnt-7a; Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta- catenin signaling pathway (By similarity). Plays an important role in embryonic development, including dorsal versus ventral patterning during limb development, skeleton development and urogenital tract development. Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (By similarity). Required for normal, sexually dimorphic development of the Mullerian ducts, and for normal fertility in both sexes. Required for normal  [...]


ensembl_gene_id: ENSPTRP00000064944
symbol: PSAP
gene_biotype: protein_coding
description:
  Prosaposin; Prosaposin: Behaves as a myelinotrophic and neurotrophic factor, these effects are mediated by its G-protein-coupled receptors, GPR37 and GPR37L1, undergoing ligand-mediated internalization followed by ERK phosphorylation signaling.


ensembl_gene_id: ENSPTRP00000064970
symbol: ENTPD5
gene_biotype: protein_coding
description:
  Ectonucleoside triphosphate diphosphohydrolase 5 (inactive); Belongs to the GDA1/CD39 NTPase family.


ensembl_gene_id: ENSPTRP00000065042
symbol: CCHCR1
gene_biotype: protein_coding
description:
  Coiled-coil alpha-helical rod protein 1; May be a regulator of keratinocyte proliferation or differentiation.


ensembl_gene_id: ENSPTRP00000065120
symbol: NCAPD2
gene_biotype: protein_coding
description:
  Condensin complex subunit 1; Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.


ensembl_gene_id: ENSPTRP00000065124
symbol: MYH14
gene_biotype: protein_coding
description:
  Myosin heavy chain 14; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSPTRP00000065181
symbol: PATR-B
gene_biotype: protein_coding
description:
  Patr class I histocompatibility antigen, C alpha chain; Involved in the presentation of foreign antigens to the immune system.


ensembl_gene_id: ENSPTRP00000065238
symbol: CRYAA
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: ENSPTRP00000065413
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: ENSPTRP00000065509
symbol: SLC25A22
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Mitochondrial carrier: glutamate), member 22; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000065527
symbol: SEC16A
gene_biotype: protein_coding
description:
  Protein transport protein sec16; Plays a role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus.


ensembl_gene_id: ENSPTRP00000065551
symbol: ELOVL2
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 2; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). May participate to the production  [...]


ensembl_gene_id: ENSPTRP00000065737
symbol: DUSP13
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 13; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPTRP00000065887
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; Belongs to the nucleoporin interacting component (NIC) family.


ensembl_gene_id: ENSPTRP00000066034
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: ENSPTRP00000066078
symbol: SLC25A11
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Mitochondrial carrier oxoglutarate carrier), member 11; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000066109
symbol: MBL2
gene_biotype: protein_coding
description:
  Mannose-binding protein C; Calcium-dependent lectin involved in innate immune defense. Binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late apoptotic cells, as well as to apoptotic blebs and to necrotic cells, but not to early apoptotic cells, facilitating their uptake by macrophages (By similarity).


ensembl_gene_id: ENSPTRP00000066151
symbol: PAMR1
gene_biotype: protein_coding
description:
  Peptidase domain containing associated with muscle regeneration 1; Belongs to the peptidase S1 family.


ensembl_gene_id: ENSPTRP00000066223
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: ENSPTRP00000066287
symbol: G0S2
gene_biotype: protein_coding
description:
  G0/G1 switch protein 2; Promotes apoptosis by binding to BCL2, hence preventing the formation of protective BCL2-BAX heterodimers.


ensembl_gene_id: ENSPTRP00000066438
symbol: DPH2
gene_biotype: protein_coding
description:
  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2; Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2.


ensembl_gene_id: ENSPTRP00000066492
symbol: NOP2
gene_biotype: protein_coding
description:
  NOP2 nucleolar protein; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPTRP00000066875
symbol: ANG
gene_biotype: protein_coding
description:
  Angiogenin; Binds to actin on the surface of endothelial cells; once bound, angiogenin is endocytosed and translocated to the nucleus. Stimulates ribosomal RNA synthesis including that containing the initiation site sequences of 45S rRNA. Cleaves tRNA within anticodon loops to produce tRNA-derived stress-induced fragments (tiRNAs) which inhibit protein synthesis and triggers the assembly of stress granules (SGs) (By similarity). Angiogenin induces vascularization of normal and malignant tissues. Angiogenic activity is regulated by interaction with RNH1 in vivo (By similarity).


ensembl_gene_id: ENSPTRP00000067067
symbol: PHYKPL
gene_biotype: protein_coding
description:
  Alanine-glyoxylate aminotransferase 2-like 2; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSPTRP00000067211
symbol: SCAI
gene_biotype: protein_coding
description:
  Protein SCAI; Tumor suppressor which functions to suppress MRTFA-induced SRF transcriptional activity.


ensembl_gene_id: ENSPTRP00000067320
symbol: MED19
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 19; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPTRP00000067332
symbol: SEPTIN5
gene_biotype: protein_coding
description:
  SEPT5 isoform 5; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPTRP00000067380
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: ENSPTRP00000067391
symbol: HRH2
gene_biotype: protein_coding
description:
  Histamine H2 receptor; The H2 subclass of histamine receptors mediates gastric acid secretion. Also appears to regulate gastrointestinal motility and intestinal secretion. Possible role in regulating cell growth and differentiation. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and, through a separate G protein-dependent mechanism, the phosphoinositide/protein kinase (PKC) signaling pathway (By similarity); Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000067393
symbol: LSM8
gene_biotype: protein_coding
description:
  U6 snRNA-associated Sm-like protein LSm8; Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA.


ensembl_gene_id: ENSPTRP00000067405
symbol: HBA1
gene_biotype: protein_coding
description:
  Hemoglobin subunit alpha; Involved in oxygen transport from the lung to the various peripheral tissues; Belongs to the globin family.


ensembl_gene_id: ENSPTRP00000067409
symbol: GATC
gene_biotype: protein_coding
description:
  Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial; Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). Belongs to the GatC family.


ensembl_gene_id: ENSPTRP00000067592
symbol: NDUFA12
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPTRP00000067656
symbol: ARPP19
gene_biotype: protein_coding
description:
  cAMP regulated phosphoprotein 19; Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. Belongs to the endosulfine family.


ensembl_gene_id: ENSPTRP00000067734
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: ENSPTRP00000067743
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: ENSPTRP00000067812
symbol: FGF2
gene_biotype: protein_coding
description:
  Fibroblast growth factor 2; Acts as a ligand for FGFR1, FGFR2, FGFR3 and FGFR4. Also acts as an integrin ligand which is required for FGF2 signaling. Binds to integrin ITGAV:ITGB3. Plays an important role in the regulation of cell survival, cell division, cell differentiation and cell migration. Functions as a potent mitogen in vitro. Can induce angiogenesis.


ensembl_gene_id: ENSPTRP00000068091
symbol: NDUFA13
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13; 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. Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in [...]


ensembl_gene_id: ENSPTRP00000068275
symbol: SEPTIN6
gene_biotype: protein_coding
description:
  SEPT6 isoform 2; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPTRP00000068287
symbol: FTSJ1
gene_biotype: protein_coding
description:
  Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase; Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs.


ensembl_gene_id: ENSPTRP00000068320
symbol: KCND2
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel, Shal-related subfamily, member 2; Belongs to the potassium channel family.


ensembl_gene_id: ENSPTRP00000068390
symbol: GPC3
gene_biotype: protein_coding
description:
  Glypican-3 alpha subunit; Cell surface proteoglycan that bears heparan sulfate (By similarity). Negatively regulates the hedgehog signaling pathway when attached via the GPI-anchor to the cell surface by competing with the hedgehog receptor PTC1 for binding to hedgehog proteins (By similarity). Binding to the hedgehog protein SHH triggers internalization of the complex by endocytosis and its subsequent lysosomal degradation (By similarity). Positively regulates the canonical Wnt signaling pathway by binding to the Wnt receptor Frizzled and stimulating the binding of the Frizzled recept [...]


ensembl_gene_id: ENSPTRP00000068470
symbol: AP2A1
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: ENSPTRP00000068498
symbol: ANAPC10
gene_biotype: protein_coding
description:
  Anaphase-promoting complex subunit 10; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin-protein ligase complex that controls progression through mitosis and the G1 phase of the cell cycle.


ensembl_gene_id: ENSPTRP00000068530
symbol: PRMT1
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSPTRP00000068533
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: ENSPTRP00000068640
symbol: CD14
gene_biotype: protein_coding
description:
  Monocyte differentiation antigen CD14; Coreceptor for bacterial lipopolysaccharide. In concert with LBP, binds to monomeric lipopolysaccharide and delivers it to the LY96/TLR4 complex, thereby mediating the innate immune response to bacterial lipopolysaccharide (LPS). Acts via MyD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Acts as a coreceptor for TLR2:TLR6 heterodimer in response to diacylated lipopeptides and for TLR2:TLR1 heterodimer in response to triacylated lipopeptides, these clusters trigger signaling from the cell su [...]


ensembl_gene_id: ENSPTRP00000068687
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: ENSPTRP00000068744
symbol: PCDHGA1
gene_biotype: protein_coding
description:
  Protocadherin gamma-A1; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.


ensembl_gene_id: ENSPTRP00000068746
symbol: B3GALT5
gene_biotype: protein_coding
description:
  Beta-1,3-galactosyltransferase 5; Catalyzes the transfer of Gal to GlcNAc-based acceptors with a preference for the core3 O-linked glycan GlcNAc(beta1,3)GalNAc structure. Can use glycolipid LC3Cer as an efficient acceptor (By similarity).


ensembl_gene_id: ENSPTRP00000068858
symbol: XK
gene_biotype: protein_coding
description:
  Membrane transport protein XK; May be involved in sodium-dependent transport of neutral amino acids or oligopeptides; Belongs to the XK family.


ensembl_gene_id: ENSPTRP00000068868
symbol: PTPA-2
gene_biotype: protein_coding
description:
  Serine/threonine-protein phosphatase 2A activator; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.


ensembl_gene_id: ENSPTRP00000068907
symbol: GET3
gene_biotype: protein_coding
description:
  ATPase ASNA1; 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.  [...]


ensembl_gene_id: ENSPTRP00000068947
symbol: TES
gene_biotype: protein_coding
description:
  Testin; Scaffold protein that may play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Plays a role in the regulation of cell proliferation. May act as a tumor suppressor (By similarity); Belongs to the prickle / espinas / testin family.


ensembl_gene_id: ENSPTRP00000068973
symbol: UQCRB-2
gene_biotype: protein_coding
description:
  Cytochrome b-c1 complex subunit 7; Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain; Belongs to the UQCRB/QCR7 family.


ensembl_gene_id: ENSPTRP00000068995
symbol: RAD51
gene_biotype: protein_coding
description:
  DNA repair protein RAD51 homolog; Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination. Binds to single and double-stranded DNA and exhibits DNA-dependent ATPase activity. Catalyzes the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template. Binds to single-stranded DNA in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange. Belongs to the RecA family. RAD51 sub [...]


ensembl_gene_id: ENSPTRP00000069082
symbol: ATP5MC3
gene_biotype: protein_coding
description:
  ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (Subunit 9); Belongs to the ATPase C chain family.


ensembl_gene_id: ENSPTRP00000069102
symbol: APOA2
gene_biotype: protein_coding
description:
  Truncated apolipoprotein A-II; May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism; Belongs to the apolipoprotein A2 family.


ensembl_gene_id: ENSPTRP00000069176
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: ENSPTRP00000069222
symbol: DUSP22
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 22; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPTRP00000069317
symbol: RIPK2
gene_biotype: protein_coding
description:
  Receptor-interacting serine/threonine-protein kinase 2; Serine/threonine/tyrosine kinase that plays an essential role in modulation of innate and adaptive immune responses. Upon stimulation by bacterial peptidoglycans, NOD1 and NOD2 are activated, oligomerize and recruit RIPK2 through CARD-CARD domains.


ensembl_gene_id: ENSPTRP00000069568
symbol: CYP17A1
gene_biotype: protein_coding
description:
  Steroid 17-alpha-hydroxylase/17,20 lyase; A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis. Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second oxidative step, required only for androgen synthesis, involves an acyl-carbon cleavage. The 17-alpha hydroxy intermediates, as part of adrenal glucocorticoids biosynthesis pathway, are precursors of cortisol. Hydroxylates steroid hormones, pregnenolone and progesterone to form 17-alpha hydroxy metabolites, followed by the cleavage of the C17-C20 bond to form C19 steroids,  [...]


ensembl_gene_id: ENSPTRP00000069610
symbol: DRD2
gene_biotype: protein_coding
description:
  D(2) dopamine receptor; Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase.


ensembl_gene_id: ENSPTRP00000069675
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: ENSPTRP00000069688
symbol: DDR1
gene_biotype: protein_coding
description:
  Epithelial discoidin domain-containing receptor 1; Tyrosine kinase that functions as cell surface receptor for fibrillar collagen and regulates cell attachment to the extracellular matrix, remodeling of the extracellular matrix, cell migration, differentiation, survival and cell proliferation. Collagen binding triggers a signaling pathway that involves SRC and leads to the activation of MAP kinases. Regulates remodeling of the extracellular matrix by up-regulation of the matrix metalloproteinases MMP2, MMP7 and MMP9, and thereby facilitates cell migration and wound healing. Promotes sm [...]


ensembl_gene_id: ENSPTRP00000069711
symbol: DNM1L
gene_biotype: protein_coding
description:
  DNM1L isoform 3; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPTRP00000069746
symbol: ATXN7L3
gene_biotype: protein_coding
description:
  Ataxin-7-like protein 3; Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to recruit USP22 and EN [...]


ensembl_gene_id: ENSPTRP00000069850
symbol: RNH1
gene_biotype: protein_coding
description:
  Ribonuclease inhibitor; Ribonuclease inhibitor which inhibits RNASE1, RNASE2 and ANG. May play a role in redox homeostasis (By similarity).


ensembl_gene_id: ENSPTRP00000069859
symbol: CD209
gene_biotype: protein_coding
description:
  CD209 antigen; Pathogen-recognition receptor expressed on the surface of immature dendritic cells (DCs) and involved in initiation of primary immune response. Thought to mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. The receptor returns to the cell membrane surface and the pathogen-derived antigens are presented to resting T-cells via MHC class II proteins to initiate the adaptive immune response. Probably recognizes in a calcium- dependent manner high mannose N-linked oligosaccharides in a variety of pathogen antigens (By similarity).


ensembl_gene_id: ENSPTRP00000069905
symbol: TNF
gene_biotype: protein_coding
description:
  Tumor necrosis factor, membrane form; Cytokine that binds to TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. It is mainly secreted by macrophages and can induce cell death of certain tumor cell lines. It is potent pyrogen causing fever by direct action or by stimulation of interleukin-1 secretion and is implicated in the induction of cachexia, Under certain conditions it can stimulate cell proliferation and induce cell differentiation (By similarity). Induces insulin resistance in adipocytes via inhibition of insulin-induced IRS1 tyrosine phosphorylation and insulin-induced glucose uptake. Induces  [...]


ensembl_gene_id: ENSPTRP00000070011
symbol: NADSYN1
gene_biotype: protein_coding
description:
  Glutamine-dependent NAD(+) synthetase; In the C-terminal section; belongs to the NAD synthetase family.


ensembl_gene_id: ENSPTRP00000070067
symbol: CSF1
gene_biotype: protein_coding
description:
  Macrophage colony-stimulating factor 1; Cytokine that plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone development. Required for normal male and female  [...]


ensembl_gene_id: ENSPTRP00000070120
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: ENSPTRP00000070146
symbol: SURF1
gene_biotype: protein_coding
description:
  SURF1-like protein; Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Belongs to the SURF1 family.


ensembl_gene_id: ENSPTRP00000070225
symbol: EIF3H
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit H; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSPTRP00000070277
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: ENSPTRP00000070324
symbol: NGF
gene_biotype: protein_coding
description:
  Beta-nerve growth factor; Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems. Extracellular ligand for the NTRK1 and NGFR receptors, activates cellular signaling cascades to regulate neuronal proliferation, differentiation and survival (By similarity). The immature NGF precursor (proNGF) functions as ligand for the heterodimeric receptor formed by SORCS2 and NGFR, and activates cellular signaling cascades that lead to inactivation of RAC1 and/or RAC2, reorganization of the actin cytoskeleton and neuronal growth cone colla [...]


ensembl_gene_id: ENSPTRP00000070351
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: ENSPTRP00000070626
symbol: APOC1
gene_biotype: protein_coding
description:
  Cholesteryl ester transfer inhibitor protein; 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.  [...]


ensembl_gene_id: ENSPTRP00000070681
symbol: ALDH5A1
gene_biotype: protein_coding
description:
  Succinate-semialdehyde dehydrogenase, mitochondrial; Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA); Belongs to the aldehyde dehydrogenase family.


ensembl_gene_id: ENSPTRP00000070705
symbol: GNL1
gene_biotype: protein_coding
description:
  Guanine nucleotide-binding protein-like 1; Possible regulatory or functional link with the histocompatibility cluster.


ensembl_gene_id: ENSPTRP00000070769
symbol: RAP1B
gene_biotype: protein_coding
description:
  Ras-related protein Rap-1b; GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarizing activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localization of phosphorylated PRKCZ, PARD3 and TIAM1 to the cell junction. Plays a role in the establishment of basal endothelial barrier function (By similarity); Belongs to the small GTPase superfamily. Ras family.


ensembl_gene_id: ENSPTRP00000070800
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: ENSPTRP00000070945
symbol: POLM-2
gene_biotype: protein_coding
description:
  DNA-directed DNA/RNA polymerase mu; Gap-filling polymerase involved in repair of DNA double- strand breaks by non-homologous end joining (NHEJ). Belongs to the DNA polymerase type-X family.


ensembl_gene_id: ENSPTRP00000070946
symbol: HSP90AA1
gene_biotype: protein_coding
description:
  Heat shock protein HSP 90-alpha; Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity which is essential for its chaperone activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function. Engages with a ra [...]


ensembl_gene_id: ENSPTRP00000071035
symbol: LOC461609
gene_biotype: protein_coding
description:
  Mortality factor 4-like protein 2; Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative [...]


ensembl_gene_id: ENSPTRP00000071077
symbol: MND1
gene_biotype: protein_coding
description:
  Meiotic nuclear division protein 1 homolog; Required for proper homologous chromosome pairing and efficient cross-over and intragenic recombination during meiosis. Belongs to the MND1 family.


ensembl_gene_id: ENSPTRP00000071254
symbol: MYH7B
gene_biotype: protein_coding
description:
  Myosin heavy chain 7B; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSPTRP00000071314
symbol: CPT1A
gene_biotype: protein_coding
description:
  Carnitine palmitoyltransferase 1A (Liver); Belongs to the carnitine/choline acetyltransferase family.


ensembl_gene_id: ENSPTRP00000071349
symbol: NDUFC2
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 subunit C2; 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: ENSPTRP00000071388
symbol: ADH1B
gene_biotype: protein_coding
description:
  All-trans-retinol dehydrogenase [NAD(+)] ADH1B; Catalyzes the NAD-dependent oxidation of all-trans-retinol and its derivatives such as all-trans-4-hydroxyretinol and may participate to retinoid metabolism. In vitro can also catalyzes the NADH-dependent reduction of all-trans-retinal and its derivatives such as all-trans-4-oxoretinal. Catalyzes in the oxidative direction with higher efficiency. Has the same affinity for all-trans-4-hydroxyretinol and all-trans-4-oxoretinal.


ensembl_gene_id: ENSPTRP00000071446
symbol: DEAF1
gene_biotype: protein_coding
description:
  Deformed epidermal autoregulatory factor 1 homolog; Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'-AGGGTTCACCGAAAGTTCA-3'. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. Regulates epithelial cell proliferation and side-branching in the mammary gland. Required for neural tube closure and skeletal patterning. Controls the expressio [...]


ensembl_gene_id: ENSPTRP00000071475
symbol: ZFY
gene_biotype: protein_coding
description:
  Zinc finger Y-chromosomal protein; Probable transcriptional activator. Binds to the consensus sequence 5'-AGGCCY-3' (By similarity).


ensembl_gene_id: ENSPTRP00000071561
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: ENSPTRP00000071600
symbol: MAP4K1
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase kinase 1; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.


ensembl_gene_id: ENSPTRP00000071606
symbol: FOXP2
gene_biotype: protein_coding
description:
  Forkhead box protein P2; Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays a role in synapse formation by regulating SRPX2 levels (By similarity).


ensembl_gene_id: ENSPTRP00000071707
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: ENSPTRP00000071736
symbol: ZSCAN12
gene_biotype: protein_coding
description:
  Zinc finger and SCAN domain-containing protein 12; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPTRP00000071819
symbol: ST3GAL1
gene_biotype: protein_coding
description:
  CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1; Responsible for the synthesis of the sequence NeuAc-alpha- 2,3-Gal-beta-1,3-GalNAc- found on sugar chains O-linked to Thr or Ser and also as a terminal sequence on certain gangliosides. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values.


ensembl_gene_id: ENSPTRP00000071830
symbol: POLE
gene_biotype: protein_coding
description:
  DNA polymerase epsilon catalytic subunit; DNA polymerase II participates in chromosomal DNA replication; Belongs to the DNA polymerase type-B family.


ensembl_gene_id: ENSPTRP00000071868
symbol: MFNG
gene_biotype: protein_coding
description:
  Beta-1,3-N-acetylglucosaminyltransferase manic fringe; Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O- fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1.


ensembl_gene_id: ENSPTRP00000071871
symbol: MYH3
gene_biotype: protein_coding
description:
  Myosin, heavy chain 3, skeletal muscle, embryonic; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSPTRP00000071945
symbol: ETV3
gene_biotype: protein_coding
description:
  ETS translocation variant 3; Transcriptional repressor that contribute to growth arrest during terminal macrophage differentiation by repressing target genes involved in Ras-dependent proliferation. Represses MMP1 promoter activity (By similarity); Belongs to the ETS family.


ensembl_gene_id: ENSPTRP00000071962
symbol: SNAPIN-2
gene_biotype: protein_coding
description:
  SNARE-associated protein Snapin; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking and synaptic vesicle recycling; Belongs to t [...]


ensembl_gene_id: ENSPTRP00000072022
symbol: KCNK12
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 12; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSPTRP00000072044
symbol: CAPZB
gene_biotype: protein_coding
description:
  F-actin-capping protein subunit beta; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments.


ensembl_gene_id: ENSPTRP00000072100
symbol: KIF1B
gene_biotype: protein_coding
description:
  Kinesin family member 1B; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPTRP00000072107
symbol: DEFA5
gene_biotype: protein_coding
description:
  Defensin-5; Has antimicrobial activity against Gram-negative and Gram- positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane. All DEFA5 peptides exert antimicrobial activities, but their potency is affected by peptide processing (By similarity); Belongs to the alpha-defensin family.


ensembl_gene_id: ENSPTRP00000072192
symbol: KMO
gene_biotype: protein_coding
description:
  Kynurenine 3-monooxygenase; Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract.


ensembl_gene_id: ENSPTRP00000072314
symbol: ELP3
gene_biotype: protein_coding
description:
  Elongator complex protein 3; Catalytic tRNA acetyltransferase subunit of the RNA polymerase II elongator complex, which is a component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation.


ensembl_gene_id: ENSPTRP00000072484
symbol: PCDHB11
gene_biotype: protein_coding
description:
  Protocadherin beta-11; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.


ensembl_gene_id: ENSPTRP00000072512
symbol: SLC2A14
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 14; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPTRP00000072691
symbol: PIK3C2G
gene_biotype: protein_coding
description:
  Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSPTRP00000072740
symbol: LEP
gene_biotype: protein_coding
description:
  Leptin; Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways (By similarity). In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones. In the periphery, inc [...]


ensembl_gene_id: ENSPTRP00000072810
symbol: HGF
gene_biotype: protein_coding
description:
  Hepatocyte growth factor; Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types. Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerization. Belongs to the peptidase S1 family. Plasminogen subfamily.


ensembl_gene_id: ENSPTRP00000072813
symbol: F7
gene_biotype: protein_coding
description:
  Coagulation factor VII; Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor and calcium (By similarity). Belongs to the peptidase S1 family.


ensembl_gene_id: ENSPTRP00000072908
symbol: DEFB4A
gene_biotype: protein_coding
description:
  Beta-defensin 4A; Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria. May act as a ligand for C-C chemokine receptor CCR6. Binds to CCR6 and induces chemotactic activity of CCR6-expressing cells; Belongs to the beta-defensin family. LAP/TAP subfamily.


ensembl_gene_id: ENSPTRP00000072982
symbol: GDA
gene_biotype: protein_coding
description:
  Guanine deaminase; Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia; Belongs to the metallo-dependent hydrolases superfamily. ATZ/TRZ family.


ensembl_gene_id: ENSPTRP00000073050
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: ENSPTRP00000073095
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: ENSPTRP00000073113
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: ENSPTRP00000073254
symbol: PODXL
gene_biotype: protein_coding
description:
  Podocalyxin; Involved in the regulation of both adhesion and cell morphology and cancer progression. Function as an anti-adhesive molecule that maintains an open filtration pathway between neighboring foot processes in the podocyte by charge repulsion. Belongs to the podocalyxin family.


ensembl_gene_id: ENSPTRP00000073458
symbol: DNM2
gene_biotype: protein_coding
description:
  DNM2 isoform 5; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPTRP00000073561
symbol: HSD17B3
gene_biotype: protein_coding
description:
  Hydroxysteroid 17-beta dehydrogenase 3; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000073661
symbol: SULF1
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: ENSPTRP00000073672
symbol: SLC26A5
gene_biotype: protein_coding
description:
  Prestin; Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound amplification in the mammalian hearing organ; Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSPTRP00000073731
symbol: GABRR3
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor rho3 subunit (gene/pseudogene); Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000073737
symbol: DVL1
gene_biotype: protein_coding
description:
  Segment polarity protein dishevelled homolog DVL-1; Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ) (By simi [...]


ensembl_gene_id: ENSPTRP00000073779
symbol: NDUFV2
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).


ensembl_gene_id: ENSPTRP00000073844
symbol: HSD17B13
gene_biotype: protein_coding
description:
  Hydroxysteroid 17-beta dehydrogenase 13; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000073892
symbol: SUFU
gene_biotype: protein_coding
description:
  Suppressor of fused homolog; Negative regulator in the hedgehog signaling pathway. Down- regulates GLI1-mediated transactivation of target genes. Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein. Negative regulator of beta-catenin signaling. Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full-length form of  [...]


ensembl_gene_id: ENSPTRP00000074062
symbol: VPS41
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 41 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport pathways; Belongs to the VPS41 family.


ensembl_gene_id: ENSPTRP00000074271
symbol: DUSP19
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 19; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPTRP00000074350
symbol: AP4M1
gene_biotype: protein_coding
description:
  AP-4 complex subunit mu-1; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin- associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asym [...]


ensembl_gene_id: ENSPTRP00000074354
symbol: GUCY1A2
gene_biotype: protein_coding
description:
  Guanylate cyclase 1 soluble subunit alpha 2; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.


ensembl_gene_id: ENSPTRP00000074359
symbol: UFM1
gene_biotype: protein_coding
description:
  Ubiquitin-fold modifier 1; Ubiquitin-like modifier which can be covalently attached to substrate proteins as a monomer or a lysine-linked polymer in a post- translational process called ufmylation. Ufmylation on lysine residues of proteins may play a crucial role in a number of cellular processes.


ensembl_gene_id: ENSPTRP00000074537
symbol: CD81
gene_biotype: protein_coding
description:
  CD81 antigen; Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Essential for trafficking and compartmentalization of CD19 receptor on the surface of activated B cells. Upon initial encounter with microbial pathogens, enables the assembly of CD19-CR2/CD21 and B cell receptor (BCR) complexes at signaling TERMs, lowering the threshold dose of antigen required to trigger B cell clonal expansion and antibody production. In T cells, facilitates the localization of CD247/ [...]


ensembl_gene_id: ENSPTRP00000074624
symbol: CDC42EP2
gene_biotype: protein_coding
description:
  Cdc42 effector protein 2; Probably involved in the organization of the actin cytoskeleton; Belongs to the BORG/CEP family.


ensembl_gene_id: ENSPTRP00000074646
symbol: CXCR4
gene_biotype: protein_coding
description:
  C-X-C chemokine receptor type 4; Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation. Involved in the AKT signaling cascade (By similarity). Plays a role in regulation of cell migration, e.g. during wound healing. Acts as a receptor for extracellular ubiquitin; leading to enhanced intracellular calcium ions and reduced cellular cAMP levels. Binds bacterial lipopolysaccharide (LPS) et mediates LPS- induced inflammatory response, including TNF secretion by monocytes (By similarity). Inv [...]


ensembl_gene_id: ENSPTRP00000074658
symbol: GPD2
gene_biotype: protein_coding
description:
  Glycerol-3-phosphate dehydrogenase; Belongs to the FAD-dependent glycerol-3-phosphate dehydrogenase family.


ensembl_gene_id: ENSPTRP00000074677
symbol: ARPC3
gene_biotype: protein_coding
description:
  Actin-related protein 2/3 complex subunit 3; Functions as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks.


ensembl_gene_id: ENSPTRP00000074687
symbol: GABRA1
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor alpha1 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000074722
symbol: PIGV
gene_biotype: protein_coding
description:
  GPI mannosyltransferase 2; Mannosyltransferase involved in glycosylphosphatidylinositol- anchor biosynthesis.


ensembl_gene_id: ENSPTRP00000074767
symbol: OSTC-2
gene_biotype: protein_coding
description:
  Oligosaccharyltransferase complex subunit; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All s [...]


ensembl_gene_id: ENSPTRP00000074921
symbol: PAN2
gene_biotype: protein_coding
description:
  PAN2-PAN3 deadenylation complex catalytic subunit PAN2; Catalytic subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenlyation-dependent  [...]


ensembl_gene_id: ENSPTRP00000074964
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: ENSPTRP00000075075
symbol: GRHPR
gene_biotype: protein_coding
description:
  Glyoxylate and hydroxypyruvate reductase; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.


ensembl_gene_id: ENSPTRP00000075231
symbol: TAS2R43
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 43; Gustducin-coupled receptor immplicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Activated by the sulfonyl amide sweeteners saccharin and acesulfame K. In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency. May act as chemosensory receptors in airway epithelial cells to detect and eliminate potential noxious agents from the airways (By similarity).


ensembl_gene_id: ENSPTRP00000075233
symbol: PRNP
gene_biotype: protein_coding
description:
  Major prion protein; Its primary physiological function is unclear. Has cytoprotective activity against internal or environmental stresses. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro). Association with GPC1 (via its heparan sulfate chains) targets PRNP to lipid rafts. Also provides Cu(2+) or ZN(2+) for the ascorbate-mediated GPC1 deaminase degradation of its heparan s [...]


ensembl_gene_id: ENSPTRP00000075248
symbol: TAS2R42
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 42; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity).


ensembl_gene_id: ENSPTRP00000075305
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: ENSPTRP00000075322
symbol: AP1M1
gene_biotype: protein_coding
description:
  AP-1 complex subunit mu-1; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.


ensembl_gene_id: ENSPTRP00000075354
symbol: LRTOMT
gene_biotype: protein_coding
description:
  Transmembrane O-methyltransferase; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function (By similarity). Component of the cochlear hair cell's mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity).


ensembl_gene_id: ENSPTRP00000075393
symbol: BDH1
gene_biotype: protein_coding
description:
  3-hydroxybutyrate dehydrogenase 1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000075417
symbol: NSUN5-2
gene_biotype: protein_coding
description:
  NOP2/Sun domain family, member 5; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPTRP00000075465
symbol: NR1I3
gene_biotype: protein_coding
description:
  Nuclear receptor subfamily 1 group I member 3; Binds and transactivates the retinoic acid response elements that control expression of the retinoic acid receptor beta 2 and alcohol dehydrogenase 3 genes. Transactivates both the phenobarbital responsive element module of the human CYP2B6 gene and the CYP3A4 xenobiotic response element (By similarity).


ensembl_gene_id: ENSPTRP00000075507
symbol: NDUFB8
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPTRP00000075558
symbol: DRC7
gene_biotype: protein_coding
description:
  Dynein regulatory complex subunit 7; Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Involved in the regulation of flagellar motility; Belongs to the DRC7 family.


ensembl_gene_id: ENSPTRP00000075568
symbol: MYC
gene_biotype: protein_coding
description:
  Myc proto-oncogene protein; Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5'-CAC[GA]TG-3'. Activates the transcription of growth-related genes. Binds to the VEGFA promoter, promoting VEGFA production and subsequent sprouting angiogenesis. Regulator of somatic reprogramming, controls self-renewal of embryonic stem cells. Functions with TAF6L to activate target gene expression through RNA polymerase II pause release (By similarity).


ensembl_gene_id: ENSPTRP00000075581
symbol: TSFM
gene_biotype: protein_coding
description:
  Elongation factor Ts, mitochondrial; Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF- Tu.GTP complex up to the GTP hydrolysis stage on the ribosome. Belongs to the EF-Ts family.


ensembl_gene_id: ENSPTRP00000075891
symbol: HDAC1
gene_biotype: protein_coding
description:
  Histone deacetylase 1; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.


ensembl_gene_id: ENSPTRP00000076050
symbol: CDC42BPA
gene_biotype: protein_coding
description:
  Non-specific serine/threonine protein kinase; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.


ensembl_gene_id: ENSPTRP00000076345
symbol: CXCR2
gene_biotype: protein_coding
description:
  C-X-C chemokine receptor type 2; Receptor for interleukin-8 which is a powerful neutrophil chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. Binds to IL-8 with high affinity. Also binds with high affinity to CXCL3, GRO/MGSA and NAP-2 (By similarity).


ensembl_gene_id: ENSPTRP00000076374
symbol: PLN
gene_biotype: protein_coding
description:
  Cardiac phospholamban; Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN.


ensembl_gene_id: ENSPTRP00000076514
symbol: MAP4K2
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase kinase 2; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.


ensembl_gene_id: ENSPTRP00000076572
symbol: GRIK4
gene_biotype: protein_coding
description:
  Glutamate receptor ionotropic, kainate 4; Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists (By similarity).


ensembl_gene_id: ENSPTRP00000076687
symbol: C2
gene_biotype: protein_coding
description:
  Complement factor B Ba fragment; Factor B which is part of the alternate pathway of the complement system is cleaved by factor D into 2 fragments: Ba and Bb. Bb, a serine protease, then combines with complement factor 3b to generate the C3 or C5 convertase. It has also been implicated in proliferation and differentiation of preactivated B-lymphocytes, rapid spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes. Ba inhibits the proliferation of preactivated B-lymphocytes (By similarity).


ensembl_gene_id: ENSPTRP00000076733
symbol: SEPTIN8
gene_biotype: protein_coding
description:
  SEPT8 isoform 1; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPTRP00000076782
symbol: NDRG2
gene_biotype: protein_coding
description:
  Protein NDRG2; Contributes to the regulation of the Wnt signaling pathway. Down-regulates CTNNB1-mediated transcriptional activation of target genes, such as CCND1, and may thereby act as tumor suppressor. May be involved in dendritic cell and neuron differentiation (By similarity).


ensembl_gene_id: ENSPTRP00000076864
symbol: AR
gene_biotype: protein_coding
description:
  Androgen receptor; Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation. Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.


ensembl_gene_id: ENSPTRP00000077078
symbol: RBMX
gene_biotype: protein_coding
description:
  RNA-binding motif protein, X chromosome, N-terminally processed; RNA-binding protein that plays several role in the regulation of pre- and post-transcriptional processes. Implicated in tissue- specific regulation of gene transcription and alternative splicing of several pre-mRNAs. Binds to and stimulates transcription from the tumor suppressor TXNIP gene promoter; may thus be involved in tumor suppression. When associated with SAFB, binds to and stimulates transcription from the SREBF1 promoter. Associates with nascent mRNAs transcribed by RNA polymerase II. Component of the suprasplic [...]


ensembl_gene_id: ENSPTRP00000077209
symbol: RDH11
gene_biotype: protein_coding
description:
  Retinol dehydrogenase 11 (All-trans/9-cis/11-cis); Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000077283
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: ENSPTRP00000077303
symbol: UBE3A
gene_biotype: protein_coding
description:
  Ubiquitin-protein ligase E3A; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates.


ensembl_gene_id: ENSPTRP00000077312
symbol: ST8SIA2
gene_biotype: protein_coding
description:
  Alpha-2,8-sialyltransferase 8B; May transfer sialic acid through alpha-2,8-linkages to the alpha-2,3-linked and alpha-2,6-linked sialic acid of N-linked oligosaccharides of glycoproteins and may be involved in PSA (polysialic acid) expression.


ensembl_gene_id: ENSPTRP00000077368
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: ENSPTRP00000077396
symbol: ADCY8
gene_biotype: protein_coding
description:
  Adenylate cyclase type 8; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSPTRP00000077579
symbol: SPACA3
gene_biotype: protein_coding
description:
  Sperm acrosome membrane-associated protein 3, processed form; Sperm surface membrane protein that may be involved in sperm- egg plasma membrane adhesion and fusion during fertilization. It could be a potential receptor for the egg oligosaccharide residue N- acetylglucosamine, which is present in the extracellular matrix over the egg plasma membrane. The processed form has no detectable bacteriolytic activity in vitro (By similarity); Belongs to the glycosyl hydrolase 22 family.


ensembl_gene_id: ENSPTRP00000077615
symbol: CD40LG
gene_biotype: protein_coding
description:
  CD40 ligand; Cytokine that acts as a ligand to CD40/TNFRSF5. Costimulates T-cell proliferation and cytokine production. Involved in immunoglobulin class switching.


ensembl_gene_id: ENSPTRP00000077622
symbol: OPA1
gene_biotype: protein_coding
description:
  OPA1 mitochondrial dynamin like GTPase; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPTRP00000077715
symbol: ATP6V1H
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit H; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system.


ensembl_gene_id: ENSPTRP00000077843
symbol: INS
gene_biotype: protein_coding
description:
  Insulin A chain; Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver.


ensembl_gene_id: ENSPTRP00000077864
symbol: SLC2A1
gene_biotype: protein_coding
description:
  Solute carrier family 2 (Facilitated glucose transporter), member 1; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPTRP00000077883
symbol: KIF21A
gene_biotype: protein_coding
description:
  Kinesin family member 21A; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPTRP00000078052
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: ENSPTRP00000078088
symbol: SLC26A2
gene_biotype: protein_coding
description:
  Sulfate transporter; Sulfate transporter. May play a role in endochondral bone formation; Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSPTRP00000078138
symbol: SIRT5
gene_biotype: protein_coding
description:
  NAD-dependent protein deacylase sirtuin-5, mitochondrial; NAD-dependent lysine demalonylase, desuccinylase and deglutarylase that specifically removes malonyl, succinyl and glutaryl groups on target proteins. Activates CPS1 and contributes to the regulation of blood ammonia levels during prolonged fasting: acts by mediating desuccinylation and deglutarylation of CPS1, thereby increasing CPS1 activity in response to elevated NAD levels during fasting. Activates SOD1 by mediating its desuccinylation, leading to reduced reactive oxygen species. Modulates ketogenesis through the desuccinyl [...]


ensembl_gene_id: ENSPTRP00000078279
symbol: EIF3J
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit J; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSPTRP00000078363
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: ENSPTRP00000078547
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: ENSPTRP00000078754
symbol: ARCN1
gene_biotype: protein_coding
description:
  Coatomer subunit delta; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network.


ensembl_gene_id: ENSPTRP00000078913
symbol: KIF21B
gene_biotype: protein_coding
description:
  Kinesin family member 21B; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPTRP00000078954
symbol: KMT2A
gene_biotype: protein_coding
description:
  Histone-lysine N-methyltransferase; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.


ensembl_gene_id: ENSPTRP00000079150
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: ENSPTRP00000079168
symbol: ATG13
gene_biotype: protein_coding
description:
  Autophagy-related protein 13; Autophagy factor required for autophagosome formation and mitophagy. Target of the TOR kinase signaling pathway that regulates autophagy through the control of the phosphorylation status of ATG13 and ULK1, and the regulation of the ATG13-ULK1-RB1CC1 complex. Through its regulation of ULK1 activity, plays a role in the regulation of the kinase activity of mTORC1 and cell proliferation.


ensembl_gene_id: ENSPTRP00000079199
symbol: VMA21-2
gene_biotype: protein_coding
description:
  Vacuolar ATPase assembly integral membrane protein VMA21; Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum.


ensembl_gene_id: ENSPTRP00000079201
symbol: HFE
gene_biotype: protein_coding
description:
  Hereditary hemochromatosis protein homolog; Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.


ensembl_gene_id: ENSPTRP00000079249
symbol: SEPTIN8-2
gene_biotype: protein_coding
description:
  SEPT8 isoform 7; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPTRP00000079272
symbol: IL7
gene_biotype: protein_coding
description:
  Interleukin-7; Hematopoietic growth factor capable of stimulating the proliferation of lymphoid progenitors. It is important for proliferation during certain stages of B-cell maturation. Belongs to the IL-7/IL-9 family.


ensembl_gene_id: ENSPTRP00000079298
symbol: EIF2A
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 2A; Functions in the early steps of protein synthesis of a small number of specific mRNAs. Acts by directing the binding of methionyl- tRNAi to 40S ribosomal subunits. In contrast to the eIF-2 complex, it binds methionyl-tRNAi to 40S subunits in a codon-dependent manner, whereas the eIF-2 complex binds methionyl-tRNAi to 40S subunits in a GTP-dependent manner.


ensembl_gene_id: ENSPTRP00000079354
symbol: PPIA
gene_biotype: protein_coding
description:
  Peptidyl-prolyl cis-trans isomerase A, N-terminally processed; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding; Belongs to the cyclophilin-type PPIase family. PPIase A subfamily.


ensembl_gene_id: ENSPTRP00000079419
symbol: LOC107973208
gene_biotype: protein_coding
description:
  Neutrophil defensin 1; Has antibacterial, fungicide and antiviral activities. Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane (By similarity); Belongs to the alpha-defensin family.


ensembl_gene_id: ENSPTRP00000079482
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: ENSPTRP00000079602
symbol: EIF3E
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit E; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSPTRP00000079684
symbol: LHB
gene_biotype: protein_coding
description:
  Lutropin subunit beta; Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids.


ensembl_gene_id: ENSPTRP00000079740
symbol: ATG7
gene_biotype: protein_coding
description:
  Ubiquitin-like modifier-activating enzyme ATG7; E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Activates ATG12 for its conjugation with ATG5 as well as the ATG8 family proteins for their conjugation with phosphatidylethanolamine. Both systems are needed for the ATG8 association to Cvt vesicles and autophagosomes membranes. Required for autophagic death induced by caspase-8 inhibition. Required for mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria [...]


ensembl_gene_id: ENSPTRP00000079784
symbol: GPC1
gene_biotype: protein_coding
description:
  GPC1 isoform 1; Cell surface proteoglycan that bears heparan sulfate. Belongs to the glypican family.


ensembl_gene_id: ENSPTRP00000079947
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; Belongs to the NMD3 family.


ensembl_gene_id: ENSPTRP00000079965
symbol: WDR76
gene_biotype: protein_coding
description:
  WD repeat-containing protein 76; Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC. Belongs to the WD repeat DDB2/WDR76 family.


ensembl_gene_id: ENSPTRP00000079968
symbol: BLOC1S5
gene_biotype: protein_coding
description:
  Biogenesis of lysosome-related organelles complex 1 subunit 5; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO).


ensembl_gene_id: ENSPTRP00000080078
symbol: GAR1
gene_biotype: protein_coding
description:
  H/ACA ribonucleoprotein complex subunit; Required for ribosome biogenesis. Part of a complex which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Pseudouridine (psi) residues may serve to stabilize the conformation of rRNAs.


ensembl_gene_id: ENSPTRP00000080188
symbol: PDGFRB
gene_biotype: protein_coding
description:
  Platelet-derived growth factor receptor beta; Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells.


ensembl_gene_id: ENSPTRP00000080225
symbol: PPP1R3C
gene_biotype: protein_coding
description:
  Protein phosphatase 1 regulatory subunit 3C; Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown.


ensembl_gene_id: ENSPTRP00000080271
symbol: ZMPSTE24
gene_biotype: protein_coding
description:
  CAAX prenyl protease; Proteolytically removes the C-terminal three residues of farnesylated proteins; Belongs to the peptidase M48A family.


ensembl_gene_id: ENSPTRP00000080320
symbol: ELOVL1
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 1; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated C18 to C26 acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate to the production of both saturated and monounsaturated VLCFAs of different chain lengths that  [...]


ensembl_gene_id: ENSPTRP00000080378
symbol: TAS2R39-2
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 39; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity).


ensembl_gene_id: ENSPTRP00000080568
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: ENSPTRP00000080638
symbol: DHX16
gene_biotype: protein_coding
description:
  Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16; Required for pre-mRNA splicing as component of the spliceosome. Contributes to pre-mRNA splicing after spliceosome formation and prior to the first transesterification reaction. Belongs to the DEAD box helicase family. DEAH subfamily. DDX16/PRP8 sub-subfamily.


ensembl_gene_id: ENSPTRP00000080688
symbol: NDUFA4
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit NDUFA4; 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  [...]


ensembl_gene_id: ENSPTRP00000080730
symbol: ELOC
gene_biotype: protein_coding
description:
  Transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C); Belongs to the SKP1 family.


ensembl_gene_id: ENSPTRP00000080743
symbol: ICAM4
gene_biotype: protein_coding
description:
  Intercellular adhesion molecule 4; ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM4 is also a ligand for alpha- 4/beta-1 and alpha-V integrins (By similarity).


ensembl_gene_id: ENSPTRP00000080776
symbol: ST3GAL3
gene_biotype: protein_coding
description:
  CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase; Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4- GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and NeuAc-alpha-2,3-Gal- beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta- 1,3-GlcNAc and the lowest toward Gal-beta-1,3-GalNAc.


ensembl_gene_id: ENSPTRP00000080827
symbol: LOC100610057
gene_biotype: protein_coding
description:
  40S ribosomal protein SA; Required for the assembly and/or stability of the 40S ribosomal subunit. Required for the processing of the 20S rRNA- precursor to mature 18S rRNA in a late step of the maturation of 40S ribosomal subunits. Also functions as a cell surface receptor for laminin. Plays a role in cell adhesion to the basement membrane and in the consequent activation of signaling transduction pathways. May play a role in cell fate determination and tissue morphogenesis. Also acts as a receptor for several other ligands, including the pathogenic prion protein, viruses, and bacteri [...]


ensembl_gene_id: ENSPTRP00000080833
symbol: ANXA8
gene_biotype: protein_coding
description:
  Annexin A8; This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade; Belongs to the annexin family.


ensembl_gene_id: ENSPTRP00000080883
symbol: CSF1R
gene_biotype: protein_coding
description:
  Colony stimulating factor 1 receptor; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSPTRP00000080894
symbol: PMP2
gene_biotype: protein_coding
description:
  Peripheral myelin protein 2; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPTRP00000081009
symbol: TAMM41
gene_biotype: protein_coding
description:
  Phosphatidate cytidylyltransferase, mitochondrial; Catalyzes the formation of CDP-diacylglycerol (CDP-DAG) from phosphatidic acid (PA) in the mitochondrial inner membrane. Required for the biosynthesis of the dimeric phospholipid cardiolipin, which stabilizes supercomplexes of the mitochondrial respiratory chain in the mitochondrial inner membrane.


ensembl_gene_id: ENSPTRP00000081072
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: ENSPTRP00000081100
symbol: ISCU
gene_biotype: protein_coding
description:
  ISCU isoform 5; Scaffold protein for the de novo synthesis of iron-sulfur (Fe-S) clusters within mitochondria, which is required for maturation of both mitochondrial and cytoplasmic [2Fe-2S] and [4Fe-4S] proteins.


ensembl_gene_id: ENSPTRP00000081112
symbol: ELAC2
gene_biotype: protein_coding
description:
  Zinc phosphodiesterase ELAC protein 2; Zinc phosphodiesterase, which displays mitochondrial tRNA 3'- processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA (By similarity).


ensembl_gene_id: ENSPTRP00000081274
symbol: CIT
gene_biotype: protein_coding
description:
  Citron Rho-interacting kinase; Plays a role in cytokinesis. Displays serine/threonine protein kinase activity; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.


ensembl_gene_id: ENSPTRP00000081338
symbol: TKT
gene_biotype: protein_coding
description:
  Transketolase; Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate.


ensembl_gene_id: ENSPTRP00000081389
symbol: MARS2
gene_biotype: protein_coding
description:
  Methionyl-tRNA synthetase 2, mitochondrial; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSPTRP00000081449
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: ENSPTRP00000081462
symbol: EHF
gene_biotype: protein_coding
description:
  ETS homologous factor; Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes, and as a modulator of the nuclear response to mitogen-activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets-binding sequences on the TNFRSF10B/DR5 promoter (By similarity).


ensembl_gene_id: ENSPTRP00000081506
symbol: ADGRL4
gene_biotype: protein_coding
description:
  EGF, latrophilin and seven transmembrane domain containing 1; Belongs to the G-protein coupled receptor 2 family.


ensembl_gene_id: ENSPTRP00000081544
symbol: RAN
gene_biotype: protein_coding
description:
  GTP-binding nuclear protein Ran; GTP-binding protein involved in nucleocytoplasmic transport. Required for the import of protein into the nucleus and also for RNA export. Involved in chromatin condensation and control of cell cycle. Belongs to the small GTPase superfamily. Ran family.


ensembl_gene_id: ENSPTRP00000081546
symbol: EBAG9
gene_biotype: protein_coding
description:
  Receptor-binding cancer antigen expressed on SiSo cells; May participate in suppression of cell proliferation and induces apoptotic cell death through activation of interleukin-1-beta converting enzyme (ICE)-like proteases.


ensembl_gene_id: ENSPTRP00000081647
symbol: PPOX
gene_biotype: protein_coding
description:
  Protoporphyrinogen oxidase; Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX.


ensembl_gene_id: ENSPTRP00000081799
symbol: MECP2
gene_biotype: protein_coding
description:
  Methyl-CpG-binding protein 2; Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC).


ensembl_gene_id: ENSPTRP00000081895
symbol: SEMA6D
gene_biotype: protein_coding
description:
  Sema domain, transmembrane domain (TM), and cytoplasmic domain, (Semaphorin) 6D; Belongs to the semaphorin family.


ensembl_gene_id: ENSPTRP00000081904
symbol: FUT1
gene_biotype: protein_coding
description:
  Galactoside 2-alpha-L-fucosyltransferase 1; Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Gal-beta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway. Belongs to the glycosyltransferase 11 family.


ensembl_gene_id: ENSPTRP00000081964
symbol: ACR-2
gene_biotype: protein_coding
description:
  Acrosin; Acrosin is the major protease of mammalian spermatozoa. It is a serine protease of trypsin-like cleavage specificity, it is synthesized in a zymogen form, proacrosin and stored in the acrosome.


ensembl_gene_id: ENSPTRP00000081988
symbol: ASIC3
gene_biotype: protein_coding
description:
  Acid sensing ion channel subunit 3; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSPTRP00000082015
symbol: CK820_G0045412
gene_biotype: protein_coding
description:
  Histone H4; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.


ensembl_gene_id: ENSPTRP00000082093
symbol: RPLP0
gene_biotype: protein_coding
description:
  60S acidic ribosomal protein P0; Ribosomal protein P0 is the functional equivalent of E.coli protein L10.


ensembl_gene_id: ENSPTRP00000082134
symbol: SETD7
gene_biotype: protein_coding
description:
  Histone-lysine N-methyltransferase SETD7; Histone methyltransferase that specifically monomethylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes.


ensembl_gene_id: ENSPTRP00000082164
symbol: DNMT3B
gene_biotype: protein_coding
description:
  DNA methyltransferase 3 beta; Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.


ensembl_gene_id: ENSPTRP00000082269
symbol: GINS4
gene_biotype: protein_coding
description:
  DNA replication complex GINS protein SLD5; The GINS complex plays an essential role in the initiation of DNA replication; Belongs to the GINS4/SLD5 family.


ensembl_gene_id: ENSPTRP00000082283
symbol: HDAC8
gene_biotype: protein_coding
description:
  Histone deacetylase 8; 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.


ensembl_gene_id: ENSPTRP00000082316
symbol: PIK3C2B
gene_biotype: protein_coding
description:
  Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSPTRP00000082325
symbol: IL5
gene_biotype: protein_coding
description:
  Interleukin-5; Factor that induces terminal differentiation of late- developing B-cells to immunoglobulin secreting cells.


ensembl_gene_id: ENSPTRP00000082350
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. Belongs to the COPE family.


ensembl_gene_id: ENSPTRP00000082404
symbol: ST8SIA3
gene_biotype: protein_coding
description:
  Sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase; Catalyzes the transfer of sialic acid from a CMP-linked sialic acid donor onto the terminal sialic acid of an acceptor through alpha-2,8-linkages. Is active with alpha-2,3-linked, alpha-2,6-linked and alpha-2,8-linked sialic acid of N-linked oligosaccharides of glycoproteins and glycolipids. Displays preference for substrates with alpha-2,3-linked terminal sialic acid. It can form polysialic acid in vitro directly on alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSPTRP00000082476
symbol: EXOC6
gene_biotype: protein_coding
description:
  Exocyst complex component; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.


ensembl_gene_id: ENSPTRP00000082519
symbol: SSR2
gene_biotype: protein_coding
description:
  Translocon-associated protein subunit beta; TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.


ensembl_gene_id: ENSPTRP00000082602
symbol: RCAN2
gene_biotype: protein_coding
description:
  Calcipressin-2; Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development (By similarity).


ensembl_gene_id: ENSPTRP00000082648
symbol: ITGA2
gene_biotype: protein_coding
description:
  Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor); Belongs to the integrin alpha chain family.


ensembl_gene_id: ENSPTRP00000082705
symbol: GABRB3
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor beta3 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000082851
symbol: BMT2
gene_biotype: protein_coding
description:
  S-adenosylmethionine sensor upstream of mTORC1; S-adenosyl-L-methionine-binding protein that acts as an inhibitor of mTORC1 signaling via interaction with the GATOR1 and KICSTOR complexes. Acts as a sensor of S-adenosyl-L-methionine to signal methionine sufficiency to mTORC1: in presence of methionine, binds S-adenosyl-L-methionine, leading to disrupt interaction with the GATOR1 and KICSTOR complexes and promote mTORC1 signaling. Upon methionine starvation, S-adenosyl-L-methionine levels are reduced, thereby promoting the association with GATOR1 and KICSTOR, leading to inhibit mTORC1 s [...]


ensembl_gene_id: ENSPTRP00000082859
symbol: MAPK13
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase 13; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK13 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK13 is one of the less studie [...]


ensembl_gene_id: ENSPTRP00000082869
symbol: SIM1
gene_biotype: protein_coding
description:
  Single-minded homolog 1; Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult.


ensembl_gene_id: ENSPTRP00000082881
symbol: KDM5D
gene_biotype: protein_coding
description:
  Lysine-specific demethylase 5D; Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. May play a role in spermatogenesis. Involved in transcriptional repression of diverse metastasis-associated genes; in this function seems to cooperate with ZMYND8. Suppresses prostate cancer cell invasion. Regulates androgen receptor (AR) transcriptional activity  [...]


ensembl_gene_id: ENSPTRP00000082896
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: ENSPTRP00000082969
symbol: IDH2
gene_biotype: protein_coding
description:
  Isocitrate dehydrogenase [NADP]; Belongs to the isocitrate and isopropylmalate dehydrogenases family.


ensembl_gene_id: ENSPTRP00000083048
symbol: ATP6V1G2
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit G 1; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.


ensembl_gene_id: ENSPTRP00000083069
symbol: ALDH18A1
gene_biotype: protein_coding
description:
  Delta-1-pyrroline-5-carboxylate synthase; In the C-terminal section; belongs to the gamma-glutamyl phosphate reductase family.


ensembl_gene_id: ENSPTRP00000083137
symbol: LZTS2
gene_biotype: protein_coding
description:
  Leucine zipper putative tumor suppressor 2; Negative regulator of katanin-mediated microtubule severing and release from the centrosome. Required for central spindle formation and the completion of cytokinesis. May negatively regulate axonal outgrowth by preventing the formation of microtubule bundles that are necessary for transport within the elongating axon. Negative regulator of the Wnt signaling pathway. Represses beta-catenin-mediated transcriptional activation by promoting the nuclear exclusion of beta- catenin.


ensembl_gene_id: ENSPTRP00000083162
symbol: MET
gene_biotype: protein_coding
description:
  Hepatocyte growth factor receptor; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including proliferation, scattering, morphogenesis and survival. Ligand binding at the cell surface induces autophosphorylation of MET on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1, SRC, GRB2, STAT3 or the adapter GAB1. Recruitment of thes [...]


ensembl_gene_id: ENSPTRP00000083164
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: ENSPTRP00000083265
symbol: CACNA1A
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: ENSPTRP00000083278
symbol: NDUFA5
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPTRP00000083284
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: ENSPTRP00000083308
symbol: DUSP27
gene_biotype: protein_coding
description:
  DUSP27 isoform 1; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPTRP00000083441
symbol: SOD2
gene_biotype: protein_coding
description:
  Superoxide dismutase [Mn], mitochondrial; Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems. Belongs to the iron/manganese superoxide dismutase family.


ensembl_gene_id: ENSPTRP00000083582
symbol: VPS29
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 29; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway.


ensembl_gene_id: ENSPTRP00000083621
symbol: ST3GAL2
gene_biotype: protein_coding
description:
  CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2; Responsible for the synthesis of the sequence NeuAc-alpha- 2,3-Gal-beta-1,3-GalNAc- found in terminal carbohydrate groups of certain glycoproteins, oligosaccharides and glycolipids. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values.


ensembl_gene_id: ENSPTRP00000083632
symbol: ENTPD6
gene_biotype: protein_coding
description:
  Ectonucleoside triphosphate diphosphohydrolase 6 (Putative); Belongs to the GDA1/CD39 NTPase family.


ensembl_gene_id: ENSPTRP00000083650
symbol: KIF7
gene_biotype: protein_coding
description:
  Kinesin family member 7; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPTRP00000083683
symbol: EHD3
gene_biotype: protein_coding
description:
  EH domain containing 3; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPTRP00000083692
symbol: LGI1
gene_biotype: protein_coding
description:
  Leucine-rich glioma-inactivated protein 1; Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 that positively regulates synaptic transmission mediated by AMPA-type glutamate receptors. Plays a role in suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway (By similarity).


ensembl_gene_id: ENSPTRP00000083727
symbol: ELOVL4
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 4; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that specifically elongates C24:0 and C26:0 acyl-CoAs. May participate to the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane  [...]


ensembl_gene_id: ENSPTRP00000083764
symbol: ADCY2
gene_biotype: protein_coding
description:
  Adenylate cyclase type 2; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSPTRP00000083797
symbol: LOC742376
gene_biotype: protein_coding
description:
  Cytochrome b-c1 complex subunit 6; This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1. Belongs to the UQCRH/QCR6 family.


ensembl_gene_id: ENSPTRP00000083806
symbol: LOC738663
gene_biotype: protein_coding
description:
  Tubulin beta-8 chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Has a key role in meiotic spindle assembly and oocyte maturation (By similarity); Belongs to the tubulin family.


ensembl_gene_id: ENSPTRP00000083946
symbol: MED6
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 6; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPTRP00000084075
symbol: NDUFB5
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, 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: ENSPTRP00000084171
symbol: ICAM1
gene_biotype: protein_coding
description:
  Intercellular adhesion molecule 1; ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). During leukocyte trans-endothelial migration, ICAM1 engagement promotes the assembly of endothelial apical cups through ARHGEF26/SGEF and RHOG activation (By similarity). Belongs to the immunoglobulin superfamily. ICAM family.


ensembl_gene_id: ENSPTRP00000084274
symbol: PPP1R11
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase PPP1R11; Atypical E3 ubiquitin-protein ligase which ubiquitinates TLR2 at 'Lys-754' leading to its degradation by the proteasome. Plays a role in regulating inflammatory cytokine release and gram-positive bacterial clearance by functioning, in part, through the ubiquitination and degradation of TLR2. Inhibitor of protein phosphatase 1.


ensembl_gene_id: ENSPTRP00000084297
symbol: DNM1
gene_biotype: protein_coding
description:
  DNM1 isoform 3; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPTRP00000084440
symbol: AK1
gene_biotype: protein_coding
description:
  Adenylate kinase isoenzyme 1; Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism.


ensembl_gene_id: ENSPTRP00000084492
symbol: OXCT1
gene_biotype: protein_coding
description:
  Succinyl-CoA:3-ketoacid-coenzyme A transferase; Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate.


ensembl_gene_id: ENSPTRP00000084676
symbol: EGR1
gene_biotype: protein_coding
description:
  Early growth response protein; Transcriptional regulator. Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'(EGR-site) in the promoter region of target genes. Binds double-stranded target DNA, irrespective of the cytosine methylation status. Regulates the transcription of numerous target genes, and thereby plays an important role in regulating the response to growth factors, DNA damage, and ischemia. Plays a role in the regulation of cell survival, proliferation and cell death. Belongs to the EGR C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPTRP00000084841
symbol: ROCK1
gene_biotype: protein_coding
description:
  Rho-associated protein kinase 1; Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of DAPK3, GFAP, LIMK1, LIMK2, MYL9/MLC2, TPPP, PFN1 and PPP1R12A. Phosphorylates FHOD1 and acts synergistically with it to promote SRC-dependent non-apoptotic plasma membrane blebbing. Phosphorylates JIP3 and regulates the recruitment of JNK to JIP3 upon UVB-induced stress (By simi [...]


ensembl_gene_id: ENSPTRP00000084957
symbol: SEPTIN9
gene_biotype: protein_coding
description:
  SEPT9 isoform 2; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPTRP00000085040
symbol: BLVRA
gene_biotype: protein_coding
description:
  Biliverdin reductase A; Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor; Belongs to the Gfo/Idh/MocA family. Biliverdin reductase subfamily.


ensembl_gene_id: ENSPTRP00000085263
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; Belongs to the NIP7 family.


ensembl_gene_id: ENSPTRP00000085301
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: ENSPTRP00000085333
symbol: MED12
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 12; 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. This subunit may specifi [...]


ensembl_gene_id: ENSPTRP00000085469
symbol: LIMS2
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: ENSPTRP00000085530
symbol: TRPV4
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel, subfamily V, member 4; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPTRP00000085547
symbol: NTRK3
gene_biotype: protein_coding
description:
  NT-3 growth factor receptor; Receptor tyrosine kinase involved in nervous system and probably heart development. Upon binding of its ligand NTF3/neurotrophin-3, NTRK3 autophosphorylates and activates different signaling pathways, including the phosphatidylinositol 3-kinase/AKT and the MAPK pathways, that control cell survival and differentiation.


ensembl_gene_id: ENSPTRP00000085569
symbol: FPGS
gene_biotype: protein_coding
description:
  Folylpolyglutamate synthase; Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis; Belongs to the folylpolyglutamate synthase family.


ensembl_gene_id: ENSPTRP00000085652
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: ENSPTRP00000085783
symbol: SP100-2
gene_biotype: protein_coding
description:
  Nuclear autoantigen Sp-100; Together with PML, this tumor suppressor is a major constituent of the PML bodies, a subnuclear organelle involved in a large number of physiological processes including cell growth, differentiation and apoptosis. Functions as a transcriptional coactivator of ETS1 and ETS2. Under certain conditions, it may also act as a corepressor of ETS1 preventing its binding to DNA. Through the regulation of ETS1 it may play a role in angiogenesis, controlling endothelial cell motility and invasion. Through interaction with the MRN complex it may be involved in the regul [...]


ensembl_gene_id: ENSPTRP00000085856
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: ENSPTRP00000086070
symbol: ZDHHC8
gene_biotype: protein_coding
description:
  Probable palmitoyltransferase ZDHHC8; Putative palmitoyltransferase involved in glutamatergic transmission; Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily.


ensembl_gene_id: ENSPTRP00000086081
symbol: VPS11
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 11 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes. Belongs to the VPS11 family.


ensembl_gene_id: ENSPTRP00000086110
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: ENSPTRP00000086137
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: ENSPTRP00000086312
symbol: DUSP10
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 10; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPTRP00000086556
symbol: PFDN4
gene_biotype: protein_coding
description:
  Prefoldin subunit 4; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins; Belongs to the prefoldin subunit beta family.


ensembl_gene_id: ENSPTRP00000086584
symbol: DEFA6
gene_biotype: protein_coding
description:
  Defensin-6; Has very low antimicrobial activity against Gram-negative and Gram-positive bacteria; Belongs to the alpha-defensin family.


ensembl_gene_id: ENSPTRP00000086619
symbol: ROR1
gene_biotype: protein_coding
description:
  Receptor tyrosine kinase-like orphan receptor 1; Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily.


ensembl_gene_id: ENSPTRP00000086632
symbol: CHRM2
gene_biotype: protein_coding
description:
  Muscarinic acetylcholine receptor M2; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is adenylate cyclase inhibition. Signaling promotes phospholipase C activity, leading to the release of inositol trisphosphate (IP3); this then triggers calcium ion release into the cytosol (By similarity). Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHR [...]


ensembl_gene_id: ENSPTRP00000086770
symbol: HPRT1
gene_biotype: protein_coding
description:
  Hypoxanthine-guanine phosphoribosyltransferase; Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5- phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway (By similarity).


ensembl_gene_id: ENSPTRP00000086826
symbol: COQ2
gene_biotype: protein_coding
description:
  4-hydroxybenzoate polyprenyltransferase, mitochondrial; Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB, generating the first membrane-bound Q intermediate.


ensembl_gene_id: ENSPTRP00000086988
symbol: CSTB
gene_biotype: protein_coding
description:
  Cystatin-B; This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B (By similarity).


ensembl_gene_id: ENSPTRP00000087081
symbol: ST3GAL5
gene_biotype: protein_coding
description:
  Lactosylceramide alpha-2,3-sialyltransferase; Catalyzes the formation of ganglioside GM3 (alpha-N- acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D-glucosylceramide).


ensembl_gene_id: ENSPTRP00000087397
symbol: MTAP
gene_biotype: protein_coding
description:
  S-methyl-5'-thioadenosine phosphorylase; Catalyzes the reversible phosphorylation of S-methyl-5'- thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis. Responsible for the first step in the methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates.


ensembl_gene_id: ENSPTRP00000087412
symbol: PRTFDC1
gene_biotype: protein_coding
description:
  Hypoxanthine phosphoribosyltransferase; Belongs to the purine/pyrimidine phosphoribosyltransferase family.


ensembl_gene_id: ENSPTRP00000087445
symbol: PTK7
gene_biotype: protein_coding
description:
  Protein tyrosine kinase 7 (inactive); Belongs to the protein kinase superfamily. Tyr protein kinase family.


ensembl_gene_id: ENSPTRP00000087520
symbol: DUSP15
gene_biotype: protein_coding
description:
  DUSP15 isoform 2; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPTRP00000087521
symbol: FUT9
gene_biotype: protein_coding
description:
  4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9; Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the N-acetyl glucosamine (GlcNAc) of a distal lactosamine unit of a glycoprotein or a glycolipid-linked polylactosamine chains through an alpha-1,3 glycosidic linkage and participates in particular to the Lewis x (Lex)/CD15 epitope biosynthesis in neurons which allows cell differentiation, cell adhesion, and initiation of neurite outgrowth. Also fucosylates di-, tri- and tetraantennary N-glycans linked to glycoproteins and the inner lacto [...]


ensembl_gene_id: ENSPTRP00000087577
symbol: ATRX
gene_biotype: protein_coding
description:
  Transcriptional regulator ATRX; Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase a [...]


ensembl_gene_id: ENSPTRP00000087761
symbol: SLC2A9
gene_biotype: protein_coding
description:
  SLC2A9 isoform 7; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPTRP00000087852
symbol: LILRB5
gene_biotype: protein_coding
description:
  Leukocyte immunoglobulin-like receptor subfamily B member 5; May act as receptor for class I MHC antigens.


ensembl_gene_id: ENSPTRP00000087875
symbol: NDUFS6
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPTRP00000087895
symbol: EIF3L
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit L; 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: ENSPTRP00000087897
symbol: RNASE4
gene_biotype: protein_coding
description:
  Ribonuclease 4; This RNase has marked specificity towards the 3' side of uridine nucleotides; Belongs to the pancreatic ribonuclease family.


ensembl_gene_id: ENSPTRP00000087910
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: ENSPTRP00000087912
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: ENSPTRP00000087919
symbol: SPECC1L
gene_biotype: protein_coding
description:
  Cytospin-A; Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration (By similarity).


ensembl_gene_id: ENSPTRP00000087924
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: ENSPTRP00000088016
symbol: ENY2
gene_biotype: protein_coding
description:
  Transcription and mRNA export factor ENY2; Involved in mRNA export coupled transcription activation by association with both the TREX-2 and the SAGA complexes. The transcription regulatory histone acetylation (HAT) complex SAGA is a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates to a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for trans [...]


ensembl_gene_id: ENSPTRP00000088067
symbol: TFEC
gene_biotype: protein_coding
description:
  Transcription factor EC; Transcriptional regulator that acts as a repressor or an activator. Acts as a transcriptional repressor on minimal promoter containing element F (that includes an E-box sequence). Binds to element F in an E-box sequence-specific manner. Acts as a transcriptional transactivator on the proximal promoter region of the tartrate-resistant acid phosphatase (TRAP) E-box containing promoter. Collaborates with MITF in target gene activation. Acts as a transcriptional repressor on minimal promoter containing mu E3 enhancer sequence. Binds to mu E3 DNA sequence of the imm [...]


ensembl_gene_id: ENSPTRP00000088090
symbol: TAAR6
gene_biotype: protein_coding
description:
  Trace amine-associated receptor 6; Orphan receptor. Could be a receptor for trace amines. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood (By similarity). Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000088113
symbol: PCDHB7
gene_biotype: protein_coding
description:
  Protocadherin beta-7; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.


ensembl_gene_id: ENSPTRP00000088140
symbol: MED14
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 14; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPTRP00000088198
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.


ensembl_gene_id: ENSPTRP00000088203
symbol: AMELY
gene_biotype: protein_coding
description:
  Amelogenin, Y isoform; Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel (By similarity). Belongs to the amelogenin family.


ensembl_gene_id: ENSPTRP00000088223
symbol: GFRA1
gene_biotype: protein_coding
description:
  GDNF family receptor alpha-1; Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor. Belongs to the GDNFR family.


ensembl_gene_id: ENSPTRP00000088267
symbol: LMF1
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: ENSPTRP00000088336
symbol: CHRNA4
gene_biotype: protein_coding
description:
  Neuronal acetylcholine receptor subunit alpha-4; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodium ions.


ensembl_gene_id: ENSPTRP00000088731
symbol: NDUFV3
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] flavoprotein 3, 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. May be the terminally assembled subunit of Complex I.


ensembl_gene_id: ENSPTRP00000088760
symbol: PDHA1
gene_biotype: protein_coding
description:
  Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.


ensembl_gene_id: ENSPTRP00000088943
symbol: IFIT3
gene_biotype: protein_coding
description:
  Interferon-induced protein with tetratricopeptide repeats 3; IFN-induced antiviral protein which acts as an inhibitor of cellular as well as viral processes, cell migration, proliferation, signaling, and viral replication. Enhances MAVS-mediated host antiviral responses by serving as an adapter bridging TBK1 to MAVS which leads to the activation of TBK1 and phosphorylation of IRF3 and phosphorylated IRF3 translocates into nucleus to promote antiviral gene transcription. Exihibits an antiproliferative activity via the up-regulation of cell cycle negative regulators CDKN1A/p21 and CDKN1B [...]


ensembl_gene_id: ENSPTRP00000088948
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: ENSPTRP00000088982
symbol: OPHN1
gene_biotype: protein_coding
description:
  Oligophrenin-1; Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at pre- synaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity).


ensembl_gene_id: ENSPTRP00000089010
symbol: GABRA5
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor alpha5 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000089111
symbol: BLOC1S6
gene_biotype: protein_coding
description:
  Biogenesis of lysosome-related organelles complex 1 subunit 6; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particular [...]


ensembl_gene_id: ENSPTRP00000089170
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: ENSPTRP00000089179
symbol: SDHD
gene_biotype: protein_coding
description:
  Succinate dehydrogenase [ubiquinone] cytochrome b small subunit; Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q); Belongs to the CybS family.


ensembl_gene_id: ENSPTRP00000089224
symbol: CK820_G0027078
gene_biotype: protein_coding
description:
  SLC2A13 isoform 1; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPTRP00000089269
symbol: SRL
gene_biotype: protein_coding
description:
  SRL isoform 1; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPTRP00000089277
symbol: KRTAP9-2
gene_biotype: protein_coding
description:
  Keratin-associated protein 9-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity); Belongs to the KRTAP type 9 family.


ensembl_gene_id: ENSPTRP00000089314
symbol: HOXD4
gene_biotype: protein_coding
description:
  Homeobox protein Hox-D4; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Antp homeobox family. Deformed subfamily.


ensembl_gene_id: ENSPTRP00000089349
symbol: LGI2
gene_biotype: protein_coding
description:
  Leucine-rich repeat LGI family member 2; Required for the development of soma-targeting inhibitory GABAergic synapses made by parvalbumin-positive basket cells.


ensembl_gene_id: ENSPTRP00000089364
symbol: NAPRT
gene_biotype: protein_coding
description:
  Nicotinate phosphoribosyltransferase; Catalyzes the first step in the biosynthesis of NAD from nicotinic acid, the ATP-dependent synthesis of beta-nicotinate D- ribonucleotide from nicotinate and 5-phospho-D-ribose 1-phosphate. Belongs to the NAPRTase family.


ensembl_gene_id: ENSPTRP00000089421
symbol: CDH11
gene_biotype: protein_coding
description:
  Cadherin 11, type 2, OB-cadherin (Osteoblast); Cadherins are calcium-dependent cell adhesion proteins.


ensembl_gene_id: ENSPTRP00000089494
symbol: HYI
gene_biotype: protein_coding
description:
  Putative hydroxypyruvate isomerase; Catalyzes the reversible isomerization between hydroxypyruvate and 2-hydroxy-3-oxopropanoate (also termed tartronate semialdehyde); Belongs to the hyi family.


ensembl_gene_id: ENSPTRP00000089515
symbol: HLA-A
gene_biotype: protein_coding
description:
  Patr class I histocompatibility antigen, A-108 alpha chain; Involved in the presentation of foreign antigens to the immune system.


ensembl_gene_id: ENSPTRP00000089596
symbol: SLC25A14
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Mitochondrial carrier, brain), member 14; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000089623
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: ENSPTRP00000089658
symbol: UTY
gene_biotype: protein_coding
description:
  Histone demethylase UTY; Male-specific histone demethylase that catalyzes trimethylated 'Lys-27' (H3K27me3) demethylation in histone H3. Has relatively low lysine demethylase activity.


ensembl_gene_id: ENSPTRP00000089661
symbol: GUSB-2
gene_biotype: protein_coding
description:
  Beta-glucuronidase; Plays an important role in the degradation of dermatan and keratan sulfates; Belongs to the glycosyl hydrolase 2 family.


ensembl_gene_id: ENSPTRP00000089848
symbol: SCN1B
gene_biotype: protein_coding
description:
  Sodium channel subunit beta-1; Regulatory subunit of multiple voltage-gated sodium channel complexes that play important roles in excitable membranes in brain, heart and skeletal muscle. Enhances the presence of the pore-forming alpha subunit at the cell surface and modulates channel gating characteristics and the rate of channel inactivation. Modulates the activity of a variety of pore-forming alpha subunits, such as SCN1A, SCN2A, SCN3A, SCN4A, SCN5A and SCN10A.


ensembl_gene_id: ENSPTRP00000089887
symbol: GPHN
gene_biotype: protein_coding
description:
  Molybdopterin molybdenumtransferase; Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.


ensembl_gene_id: ENSPTRP00000089931
symbol: NTF3
gene_biotype: protein_coding
description:
  Neurotrophin-3; Seems to promote the survival of visceral and proprioceptive sensory neurons; Belongs to the NGF-beta family.


ensembl_gene_id: ENSPTRP00000089998
symbol: ARPC2
gene_biotype: protein_coding
description:
  Arp2/3 complex 34 kDa subunit; Functions as actin-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks.


ensembl_gene_id: ENSPTRP00000090035
symbol: SLC25A4
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Mitochondrial carrier adenine nucleotide translocator), member 4; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000090148
symbol: FABP9
gene_biotype: protein_coding
description:
  Fatty acid binding protein 9; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPTRP00000090239
symbol: JAK3-2
gene_biotype: protein_coding
description:
  Insulin-like 3 A chain; Seems to play a role in testicular function. May be a trophic hormone with a role in testicular descent in fetal life. Is a ligand for LGR8 receptor (By similarity).


ensembl_gene_id: ENSPTRP00000090299
symbol: SEPTIN10
gene_biotype: protein_coding
description:
  SEPT10 isoform 2; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPTRP00000090456
symbol: MR1
gene_biotype: protein_coding
description:
  Major histocompatibility complex class I-related gene protein; Antigen-presenting molecule specialized in presenting microbial vitamin B metabolites. Involved in the development and expansion of a small population of T-cells expressing an invariant T- cell receptor alpha chain called mucosal-associated invariant T-cells (MAIT). MAIT lymphocytes are preferentially located in the gut lamina propria and therefore may be involved in monitoring commensal flora or serve as a distress signal. Expression and MAIT cell recognition seem to be ligand-dependent (By similarity); Belongs to the MHC  [...]


ensembl_gene_id: ENSPTRP00000090494
symbol: ST14
gene_biotype: protein_coding
description:
  Suppressor of tumorigenicity 14 protein homolog; Degrades extracellular matrix. Belongs to the peptidase S1 family.


ensembl_gene_id: ENSPTRP00000090527
symbol: EHD1
gene_biotype: protein_coding
description:
  EH domain containing 1; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPTRP00000090561
symbol: SLC8A3
gene_biotype: protein_coding
description:
  Solute carrier family 8 member A3; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSPTRP00000090573
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. Negatively regulates caveolae formation by reducing CAV1 expression and CAV1 amount by increasing lysosomal degradation. Facilitates surface trafficking and the formation of lipid rafts bearing GPI-anchor proteins. Regulates surface expression of MHC1 and ICAM1 proteins increasing susceptibility to T- cell mediated cytotoxicity. R [...]


ensembl_gene_id: ENSPTRP00000090594
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: ENSPTRP00000090619
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: ENSPTRP00000090778
symbol: CYP11A1
gene_biotype: protein_coding
description:
  Cholesterol side-chain cleavage enzyme, mitochondrial; A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones. Catalyzes three sequential oxidation reactions of cholesterol, namely the hydroxylation at C22 followed with the hydroxylation at C20 to yield 20R,22R- hydroxycholesterol that is further cleaved between C20 and C22 to yield the C21-steroid pregnenolone and 4-methylpentanal. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the se [...]


ensembl_gene_id: ENSPTRP00000090779
symbol: PTEN
gene_biotype: protein_coding
description:
  Phosphatase and tensin homolog; Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine- phosphorylated proteins. Also acts as a lipid phosphatase. Belongs to the PTEN phosphatase protein family.


ensembl_gene_id: ENSPTRP00000090843
symbol: SNCA
gene_biotype: protein_coding
description:
  Alpha-synuclein; Neuronal protein that plays several roles in synaptic activity such as regulation of synaptic vesicle trafficking and subsequent neurotransmitter release. Participates as a monomer in synaptic vesicle exocytosis by enhancing vesicle priming, fusion and dilation of exocytotic fusion pores. Mechanistically, acts by increasing local Ca(2+) release from microdomains which is essential for the enhancement of ATP-induced exocytosis. Acts also as a molecular chaperone in its multimeric membrane-bound state, assisting in the folding of synaptic fusion components called SNAREs  [...]


ensembl_gene_id: ENSPTRP00000090869
symbol: ST8SIA1
gene_biotype: protein_coding
description:
  Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase; Involved in the production of gangliosides GD3 and GT3 from GM3; gangliosides are a subfamily of complex glycosphinglolipds that contain one or more residues of sialic acid.


ensembl_gene_id: ENSPTRP00000090946
symbol: SEPTIN14
gene_biotype: protein_coding
description:
  SEPT14 isoform 1; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPTRP00000091097
symbol: NDUFB6
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPTRP00000091100
symbol: TSHR
gene_biotype: protein_coding
description:
  Thyrotropin receptor; Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin. Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Plays a central role in controlling thyroid cell metabolism. Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.


ensembl_gene_id: ENSPTRP00000091126
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: ENSPTRP00000091145
symbol: PPIE
gene_biotype: protein_coding
description:
  Peptidyl-prolyl cis-trans isomerase E; Catalyzes the cis-trans isomerization of proline imidic peptide bonds in proteins; Belongs to the cyclophilin-type PPIase family. PPIase E subfamily.


ensembl_gene_id: ENSPTRP00000091153
symbol: ATE1
gene_biotype: protein_coding
description:
  Arginyl-tRNA--protein transferase 1; Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway. Belongs to the R-transferase family.


ensembl_gene_id: ENSPTRP00000091278
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: ENSPTRP00000091349
symbol: INPP5E
gene_biotype: protein_coding
description:
  Phosphatidylinositol polyphosphate 5-phosphatase type IV; Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), phosphatidylinositol 4,5-bisphosphate(PtdIns(4,5)P2) and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Specific for lipid substrates, inactive towards water soluble inositol phosphates (By similarity). Plays an essential role in the primary cilium by controlling ciliary growth and phosphoinositide 3-kinase (PI3K) signaling and stability (By similarity); Belongs to the inos [...]


ensembl_gene_id: ENSPTRP00000091415
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: ENSPTRP00000091525
symbol: KRT7
gene_biotype: protein_coding
description:
  Keratin, type II cytoskeletal 7; Blocks interferon-dependent interphase and stimulates DNA synthesis in cells; Belongs to the intermediate filament family.


ensembl_gene_id: ENSPTRP00000091530
symbol: SNRPD1
gene_biotype: protein_coding
description:
  Small nuclear ribonucleoprotein Sm D1; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions through non-specific electrostatic contacts with RNA.


ensembl_gene_id: ENSPTRP00000091603
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: ENSPTRP00000091696
symbol: MBP
gene_biotype: protein_coding
description:
  Myelin basic protein; Is, with PLP, the most abundant protein component of the myelin membrane in the CNS. Has a role in both the formation and stabilization of this compact multilayer arrangement of bilayers. Each splice variant and charge isomer may have a specialized function in the assembly of an optimized, biochemically functional myelin membrane (By similarity).


ensembl_gene_id: ENSPTRP00000091792
symbol: ST8SIA4
gene_biotype: protein_coding
description:
  CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase; Catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid (PSA), which is present on the embryonic neural cell adhesion molecule (N-CAM), necessary for plasticity of neural cells.


ensembl_gene_id: ENSPTRP00000091978
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: ENSPTRP00000092095
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.


ensembl_gene_id: ENSPTRP00000092283
symbol: LPXN
gene_biotype: protein_coding
description:
  Leupaxin; Transcriptional coactivator for androgen receptor (AR) and serum response factor (SRF). Contributes to the regulation of cell adhesion, spreading and cell migration and acts as a negative regulator in integrin-mediated cell adhesion events. Suppresses the integrin- induced tyrosine phosphorylation of paxillin (PXN).


ensembl_gene_id: ENSPTRP00000092410
symbol: ULK2
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase; Serine/threonine-protein kinase involved in autophagy in response to starvation; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. APG1/unc-51/ULK1 subfamily.


ensembl_gene_id: ENSPTRP00000092556
symbol: GABRG3
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor gamma3 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000092922
symbol: MNAT1
gene_biotype: protein_coding
description:
  CDK-activating kinase assembly factor MAT1; Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex.


ensembl_gene_id: ENSPTRP00000092948
symbol: SLC8A2
gene_biotype: protein_coding
description:
  Solute carrier family 8 member A2; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSPTRP00000092990
symbol: CEPT1
gene_biotype: protein_coding
description:
  Choline/ethanolamine phosphotransferase 1; Belongs to the CDP-alcohol phosphatidyltransferase class-I family.


ensembl_gene_id: ENSPTRP00000093015
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: ENSPTRP00000093387
symbol: GABRB2
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor beta2 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000093433
symbol: FABP7
gene_biotype: protein_coding
description:
  Fatty acid binding protein 7; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPTRP00000093442
symbol: MCPH1
gene_biotype: protein_coding
description:
  Microcephalin; Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex (By similarity).


ensembl_gene_id: ENSPTRP00000093465
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: ENSPTRP00000093472
symbol: PATR-E
gene_biotype: protein_coding
description:
  Patr class I histocompatibility antigen, alpha chain E; Preferably binds to a peptide derived from the signal sequence of most HLA-A, -B, -C and -G molecules.


ensembl_gene_id: ENSPTRP00000093526
symbol: ICAM3
gene_biotype: protein_coding
description:
  Intercellular adhesion molecule 3; ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM3 is also a ligand for integrin alpha-D/beta-2. In association with integrin alpha-L/beta-2, contributes to apoptotic neutrophil phagocytosis by macrophages.


ensembl_gene_id: ENSPTRP00000093557
symbol: ADCY6
gene_biotype: protein_coding
description:
  Adenylate cyclase type 6; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSPTRP00000093718
symbol: DUSP14
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 14; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPTRP00000093932
symbol: APP
gene_biotype: protein_coding
description:
  Gamma-secretase C-terminal fragment 50; Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. Interaction between APP molecules on neighboring cells promotes synaptogenesis. Involved in cell mobility and transcription regulation through protein-protein interactions (By similarity). Can promote transcription activation through binding to APBB1-KAT5 and inhibit Notch signaling through interaction with Numb (By similarity). Couples to apoptosis-inducing pathways such as those medi [...]


ensembl_gene_id: ENSPTRP00000093935
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; Belongs to the eukaryotic ATPase subunit F6 family.


ensembl_gene_id: ENSPTRP00000093953
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: ENSPTRP00000093956
symbol: SLC10A7
gene_biotype: protein_coding
description:
  Sodium/bile acid cotransporter; Does not show transport activity towards bile acids or steroid sulfates; Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family.


