# geneInfo

ensembl_gene_id: ENSPTRP00000000085
symbol: RER1
gene_biotype: protein_coding
description:
  Protein RER1; Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment.


ensembl_gene_id: ENSPTRP00000000094
symbol: PANK4
gene_biotype: protein_coding
description:
  4'-phosphopantetheine phosphatase; May play a role in the physiological regulation of coenzyme A (CoA) intracellular levels. The phosphatase activity shows preference for normal or oxidatively damaged intermediates of 4'- phosphopantetheine, which provides strong indirect evidence that the phosphatase activity pre-empts damage in the CoA pathway.


ensembl_gene_id: ENSPTRP00000000214
symbol: SLC2A5
gene_biotype: protein_coding
description:
  Solute carrier family 2 (Facilitated glucose/fructose transporter), member 5; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPTRP00000000215
symbol: SLC2A7
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 7; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPTRP00000000238
symbol: RBP7
gene_biotype: protein_coding
description:
  Retinol binding protein 7; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPTRP00000000290
symbol: DRAXIN
gene_biotype: protein_coding
description:
  Draxin; Chemorepulsive axon guidance protein required for the development of spinal cord and forebrain commissures. Acts as a chemorepulsive guidance protein for commissural axons during development. Able to inhibit or repel neurite outgrowth from dorsal spinal cord. Inhibits the stabilization of cytosolic beta-catenin (CTNNB1) via its interaction with LRP6, thereby acting as an antagonist of Wnt signaling pathway.


ensembl_gene_id: ENSPTRP00000000305
symbol: MFN2
gene_biotype: protein_coding
description:
  MFN2 isoform 1; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPTRP00000000319
symbol: DHRS3
gene_biotype: protein_coding
description:
  Dehydrogenase/reductase (SDR family) member 3; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000000434
symbol: SDHB
gene_biotype: protein_coding
description:
  Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial; Iron-sulfur protein (IP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).


ensembl_gene_id: ENSPTRP00000000453
symbol: TAS1R2
gene_biotype: protein_coding
description:
  Taste receptor type 1 member 2; Putative taste receptor. TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners (By similarity).


ensembl_gene_id: ENSPTRP00000000463
symbol: MRTO4
gene_biotype: protein_coding
description:
  Ribosome assembly factor mrt4; Component of the ribosome assembly machinery. Nuclear paralog of the ribosomal protein P0, it binds pre-60S subunits at an early stage of assembly in the nucleolus, and is replaced by P0 in cytoplasmic pre-60S subunits and mature 80S ribosomes.


ensembl_gene_id: ENSPTRP00000000474
symbol: HTR6
gene_biotype: protein_coding
description:
  5-hydroxytryptamine receptor 6; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase. It has a high affinity for tricyclic psychotropic drugs (By similarity). Controls pyramidal neurons migration during corticogenesis, through the regulation of CDK5 activity (By similarity). Is an activator of TOR signaling (By similarity).


ensembl_gene_id: ENSPTRP00000000499
symbol: CDA
gene_biotype: protein_coding
description:
  Cytidine deaminase; This enzyme scavenges exogenous and endogenous cytidine and 2'-deoxycytidine for UMP synthesis; Belongs to the cytidine and deoxycytidylate deaminase family.


ensembl_gene_id: ENSPTRP00000000614
symbol: RUNX3
gene_biotype: protein_coding
description:
  Runt-related transcription factor; Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'- TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX.


ensembl_gene_id: ENSPTRP00000000691
symbol: GPN2
gene_biotype: protein_coding
description:
  GPN-loop GTPase 2; Small GTPase required for proper localization of RNA polymerase II and III (RNAPII and RNAPIII). May act at an RNAP assembly step prior to nuclear import; Belongs to the GPN-loop GTPase family.


ensembl_gene_id: ENSPTRP00000000720
symbol: IFI6
gene_biotype: protein_coding
description:
  Interferon alpha-inducible protein 6; Plays a role in apoptosis, negatively regulating the intrinsinc apoptotic signaling pathway and TNFSF10-induced apoptosis (By similarity). However, it has also been shown to have a pro- apoptotic activity (By similarity). May have an antiviral activity (By similarity); Belongs to the IFI6/IFI27 family.


ensembl_gene_id: ENSPTRP00000000737
symbol: XKR8
gene_biotype: protein_coding
description:
  XK-related protein 8, processed form; Promotes phosphatidylserine exposure on apoptotic cell surface, possibly by mediating phospholipid scrambling. Phosphatidylserine is a specific marker only present at the surface of apoptotic cells and acts as a specific signal for engulfment. Has no effect on calcium-induced exposure of phosphatidylserine. Activated upon caspase cleavage, suggesting that it does not act prior the onset of apoptosis (By similarity).


ensembl_gene_id: ENSPTRP00000000752
symbol: MED18
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 18; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPTRP00000000799
symbol: FABP3
gene_biotype: protein_coding
description:
  Fatty acid binding protein 3, muscle and heart (Mammary-derived growth inhibitor); Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPTRP00000000837
symbol: EIF3I
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit I; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSPTRP00000000870
symbol: AK2
gene_biotype: protein_coding
description:
  Adenylate kinase 2, mitochondrial; Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis.


ensembl_gene_id: ENSPTRP00000000933
symbol: AGO3
gene_biotype: protein_coding
description:
  Protein argonaute-3; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs.


ensembl_gene_id: ENSPTRP00000000939
symbol: TRAPPC3
gene_biotype: protein_coding
description:
  Trafficking protein particle complex subunit; May play a role in vesicular transport from endoplasmic reticulum to Golgi.


ensembl_gene_id: ENSPTRP00000000969
symbol: GNL2
gene_biotype: protein_coding
description:
  Nucleolar GTP-binding protein 2; GTPase that associates with pre-60S ribosomal subunits in the nucleolus and is required for their nuclear export and maturation. Belongs to the TRAFAC class YlqF/YawG GTPase family. NOG2 subfamily.


ensembl_gene_id: ENSPTRP00000000982
symbol: UTP11
gene_biotype: protein_coding
description:
  U3 small nucleolar RNA-associated protein 11; Involved in nucleolar processing of pre-18S ribosomal RNA.


ensembl_gene_id: ENSPTRP00000000984
symbol: HSPA5
gene_biotype: protein_coding
description:
  Heat shock 70kDa protein 5 (Glucose-regulated protein, 78kDa); Belongs to the heat shock protein 70 family.


ensembl_gene_id: ENSPTRP00000000988
symbol: RHBDL2
gene_biotype: protein_coding
description:
  Rhomboid-related protein 2; Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors; Belongs to the peptidase S54 family.


ensembl_gene_id: ENSPTRP00000000990
symbol: NDUFS5
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 5; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPTRP00000001005
symbol: TRIT1
gene_biotype: protein_coding
description:
  tRNA dimethylallyltransferase; Catalyzes the transfer of a dimethylallyl group onto the adenine at position 37; Belongs to the IPP transferase family.


ensembl_gene_id: ENSPTRP00000001053
symbol: TMSB4X-2
gene_biotype: protein_coding
description:
  Thymosin beta; Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization. Belongs to the thymosin beta family.


ensembl_gene_id: ENSPTRP00000001060
symbol: CLDN19
gene_biotype: protein_coding
description:
  Claudin; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity; Belongs to the claudin family.


ensembl_gene_id: ENSPTRP00000001091
symbol: MED8
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 8; 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: ENSPTRP00000001145
symbol: KIF2C
gene_biotype: protein_coding
description:
  Kinesin-like protein; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPTRP00000001148
symbol: BEST4
gene_biotype: protein_coding
description:
  Bestrophin; Forms calcium-sensitive chloride channels. Permeable to bicarbonate; Belongs to the bestrophin family.


ensembl_gene_id: ENSPTRP00000001204
symbol: NSUN4
gene_biotype: protein_coding
description:
  NOP2/Sun RNA methyltransferase 4; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPTRP00000001232
symbol: CMPK1
gene_biotype: protein_coding
description:
  UMP-CMP kinase; Catalyzes the phosphorylation of pyrimidine nucleoside monophosphates at the expense of ATP. Plays an important role in de novo pyrimidine nucleotide biosynthesis. Has preference for UMP and CMP as phosphate acceptors. Also displays broad nucleoside diphosphate kinase activity; Belongs to the adenylate kinase family. UMP-CMP kinase subfamily.


ensembl_gene_id: ENSPTRP00000001270
symbol: ORC1
gene_biotype: protein_coding
description:
  Origin recognition complex subunit 1; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent, however specific DNA sequences that define origins of replication have not been identified so far. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication.


ensembl_gene_id: ENSPTRP00000001355
symbol: PCSK9
gene_biotype: protein_coding
description:
  Proprotein convertase subtilisin/kexin type 9; Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments. Acts via a non-proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediated pathway. May prevent the recycling of LDLR from endosomes to [...]


ensembl_gene_id: ENSPTRP00000001399
symbol: USP1
gene_biotype: protein_coding
description:
  Ubiquitin carboxyl-terminal hydrolase; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes. Belongs to the peptidase C19 family.


ensembl_gene_id: ENSPTRP00000001405
symbol: ATG4C
gene_biotype: protein_coding
description:
  Cysteine protease; Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy; Belongs to the peptidase C54 family.


ensembl_gene_id: ENSPTRP00000001428
symbol: AK4
gene_biotype: protein_coding
description:
  Adenylate kinase 4, mitochondrial; Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Efficiently phosphorylates AMP and dAMP using ATP as phosphate donor, but phosphorylates only AMP when using GTP as phosphate donor. Also displays broad nucleoside diphosphate kinase activity.


ensembl_gene_id: ENSPTRP00000001444
symbol: INSL5
gene_biotype: protein_coding
description:
  Insulin-like peptide INSL5 A chain; May have a role in gut contractility or in thymic development and regulation. Activates RXFP4 with high potency and appears to be the endogenous ligand for this receptor (By similarity).


ensembl_gene_id: ENSPTRP00000001509
symbol: RABGGTB
gene_biotype: protein_coding
description:
  Geranylgeranyl transferase type-2 subunit beta; Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of proteins with the C- terminal sequence -XXCC, -XCXC and -CCXX.


ensembl_gene_id: ENSPTRP00000001512
symbol: ST6GALNAC5
gene_biotype: protein_coding
description:
  ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSPTRP00000001546
symbol: IFI44
gene_biotype: protein_coding
description:
  Interferon-induced protein 44; This protein aggregates to form microtubular structures; Belongs to the IFI44 family.


ensembl_gene_id: ENSPTRP00000001581
symbol: CCN1
gene_biotype: protein_coding
description:
  CCN family member 1; Promotes cell proliferation, chemotaxis, angiogenesis and cell adhesion. Appears to play a role in wound healing by up- regulating, in skin fibroblasts, the expression of a number of genes involved in angiogenesis, inflammation and matrix remodeling including VEGA-A, VEGA-C, MMP1, MMP3, TIMP1, uPA, PAI-1 and integrins alpha-3 and alpha-5 (By similarity). CCN1-mediated gene regulation is dependent on heparin-binding (By similarity). Down-regulates the expression of alpha-1 and alpha-2 subunits of collagen type-1 (By similarity). Promotes cell adhesion and adhesive s [...]


ensembl_gene_id: ENSPTRP00000001688
symbol: CNN3
gene_biotype: protein_coding
description:
  Calponin; Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity.


ensembl_gene_id: ENSPTRP00000001697
symbol: DPYD
gene_biotype: protein_coding
description:
  Dihydropyrimidine dehydrogenase [NADP(+)]; Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine; Belongs to the dihydropyrimidine dehydrogenase family.


ensembl_gene_id: ENSPTRP00000001764
symbol: PRMT6
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase 6; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSPTRP00000001772
symbol: SLC25A24
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Mitochondrial carrier phosphate carrier), member 24; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000001966
symbol: CASQ2
gene_biotype: protein_coding
description:
  Calsequestrin; Calsequestrin is a high-capacity, moderate affinity, calcium- binding protein and thus acts as an internal calcium store in muscle.


ensembl_gene_id: ENSPTRP00000002004
symbol: WARS2
gene_biotype: protein_coding
description:
  Tryptophanyl tRNA synthetase 2, mitochondrial; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSPTRP00000002008
symbol: HSD3B1
gene_biotype: protein_coding
description:
  Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1; Belongs to the 3-beta-HSD family.


ensembl_gene_id: ENSPTRP00000002013
symbol: PHGDH
gene_biotype: protein_coding
description:
  D-3-phosphoglycerate dehydrogenase; Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L- serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.


ensembl_gene_id: ENSPTRP00000002014
symbol: HMGCS2
gene_biotype: protein_coding
description:
  3-hydroxy-3-methylglutaryl coenzyme A synthase; This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase.


ensembl_gene_id: ENSPTRP00000002044
symbol: POLR3GL
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase III subunit; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs.


ensembl_gene_id: ENSPTRP00000002050
symbol: RBM8A
gene_biotype: protein_coding
description:
  RNA-binding protein 8A; Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs.


ensembl_gene_id: ENSPTRP00000002058
symbol: POLR3C
gene_biotype: protein_coding
description:
  RNA polymerase III subunit C3; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.


ensembl_gene_id: ENSPTRP00000002081
symbol: GJA8
gene_biotype: protein_coding
description:
  Gap junction protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.


ensembl_gene_id: ENSPTRP00000002329
symbol: HAX1
gene_biotype: protein_coding
description:
  HCLS1-associated protein X-1; Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex. Slows down the rate of inactivation of KCNC3 channels. Promotes GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. Promotes cell survival. May regulate intracellular calcium pools.


ensembl_gene_id: ENSPTRP00000002352
symbol: CKS1B
gene_biotype: protein_coding
description:
  Cyclin-dependent kinases regulatory subunit; Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function.


ensembl_gene_id: ENSPTRP00000002354
symbol: FLAD1
gene_biotype: protein_coding
description:
  FAD synthase; Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. In the C-terminal section; belongs to the PAPS reductase family. FAD1 subfamily.


ensembl_gene_id: ENSPTRP00000002374
symbol: DPM3
gene_biotype: protein_coding
description:
  Dolichol-phosphate mannosyltransferase subunit 3; Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit to the ER. Belongs to the DPM3 family.


ensembl_gene_id: ENSPTRP00000002475
symbol: NAXE
gene_biotype: protein_coding
description:
  NAD(P)H-hydrate epimerase; Catalyzes the epimerization of the S- and R-forms of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. This is a prerequisite for the S-specific NAD(P)H-hydrate dehydratase to allow the repair of both epimers of NAD(P)HX.


ensembl_gene_id: ENSPTRP00000002485
symbol: CRABP2
gene_biotype: protein_coding
description:
  Cellular retinoic acid binding protein 2; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPTRP00000002561
symbol: ACKR1
gene_biotype: protein_coding
description:
  Atypical chemokine receptor 1; Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Has a promiscuous chemokine- binding profile, interacting with inflammatory chemokines of both the CXC and the CC subfamilies but not with homeostatic chemokines. Acts as a receptor for [...]


ensembl_gene_id: ENSPTRP00000002599
symbol: COPA
gene_biotype: protein_coding
description:
  Coatomer subunit alpha; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network.


ensembl_gene_id: ENSPTRP00000002635
symbol: UFC1
gene_biotype: protein_coding
description:
  Ubiquitin-fold modifier-conjugating enzyme 1; E2-like enzyme which forms an intermediate with UFM1 via a thioester linkage.


ensembl_gene_id: ENSPTRP00000002642
symbol: NDUFS2
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 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.


ensembl_gene_id: ENSPTRP00000002732
symbol: ADCY10
gene_biotype: protein_coding
description:
  Adenylate cyclase type 10; Catalyzes the formation of the signaling molecule cAMP. May function as sensor that mediates responses to changes in cellular bicarbonate and CO(2) levels. Has a critical role in mammalian spermatogenesis by producing the cAMP which regulates cAMP-responsive nuclear factors indispensable for sperm maturation in the epididymis. Induces capacitation, the maturational process that sperm undergo prior to fertilization. Involved in ciliary beat regulation. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.


ensembl_gene_id: ENSPTRP00000002735
symbol: MPC2
gene_biotype: protein_coding
description:
  Mitochondrial pyruvate carrier; Mediates the uptake of pyruvate into mitochondria. Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family.


ensembl_gene_id: ENSPTRP00000002750
symbol: ATP1B1
gene_biotype: protein_coding
description:
  Sodium/potassium-transporting ATPase subunit beta-1; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane (By similarity).


ensembl_gene_id: ENSPTRP00000002764
symbol: SELL
gene_biotype: protein_coding
description:
  L-selectin; Calcium-dependent lectin that mediates cell adhesion by binding to glycoproteins on neighboring cells. Mediates the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes. Promotes initial tethering and rolling of leukocytes in endothelia; Belongs to the selectin/LECAM family.


ensembl_gene_id: ENSPTRP00000002778
symbol: FMO3
gene_biotype: protein_coding
description:
  Dimethylaniline monooxygenase [N-oxide-forming] 3; Essential hepatic enzyme that catalyzes the oxygenation of a wide variety of nitrogen- and sulfur-containing compounds including drugs as well as dietary compounds. Plays an important role in the metabolism of trimethylamine (TMA), via the production of trimethylamine N-oxide (TMAO) metabolite. TMA is generated by the action of gut microbiota using dietary precursors such as choline, choline containing compounds, betaine or L-carnitine. By regulating TMAO concentration, FMO3 directly impacts both platelet responsiveness and rate of thr [...]


ensembl_gene_id: ENSPTRP00000002780
symbol: FMO2
gene_biotype: protein_coding
description:
  Dimethylaniline monooxygenase [N-oxide-forming] 2; This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides.


ensembl_gene_id: ENSPTRP00000002923
symbol: CACNA1E
gene_biotype: protein_coding
description:
  Voltage-dependent R-type calcium channel subunit alpha; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents.


ensembl_gene_id: ENSPTRP00000002951
symbol: ARPC5
gene_biotype: protein_coding
description:
  Actin-related protein 2/3 complex subunit 5; 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. Arp2/3 complex plays a critical role in the control of cell morphogenesis via the modulation of cell polarity development.


ensembl_gene_id: ENSPTRP00000002963
symbol: TRMT1L
gene_biotype: protein_coding
description:
  TRM1 tRNA methyltransferase 1-like; Belongs to the class I-like SAM-binding methyltransferase superfamily. Trm1 family.


ensembl_gene_id: ENSPTRP00000003041
symbol: KIF14
gene_biotype: protein_coding
description:
  Kinesin family member 14; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPTRP00000003082
symbol: TIMM17A
gene_biotype: protein_coding
description:
  Mitochondrial import inner membrane translocase subunit TIM17; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.


ensembl_gene_id: ENSPTRP00000003119
symbol: CYB5R1
gene_biotype: protein_coding
description:
  NADH-cytochrome b5 reductase; Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.


ensembl_gene_id: ENSPTRP00000003131
symbol: ADORA1
gene_biotype: protein_coding
description:
  Adenosine receptor A1; Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000003173
symbol: DSTYK
gene_biotype: protein_coding
description:
  Dual serine/threonine and tyrosine protein kinase; Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation. Involved in the regulation of both caspase-dependent apoptosis and caspase- independent cell death. In the skin, it plays a predominant role in suppressing caspase-dependent apoptosis in response to UV stress in a range of dermal cell types.


ensembl_gene_id: ENSPTRP00000003207
symbol: MAPKAPK2
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase-activated protein kinase 2; Belongs to the protein kinase superfamily.


ensembl_gene_id: ENSPTRP00000003208
symbol: IL10
gene_biotype: protein_coding
description:
  Interleukin-10; Major immune regulatory cytokine that acts on many cells of the immune system where it has profound anti-inflammatory functions, limiting excessive tissue disruption caused by inflammation. Mechanistically, IL10 binds to its heterotetrameric receptor comprising IL10RA and IL10RB leading to JAK1 and STAT2-mediated phosphorylation of STAT3. In turn, STAT3 translocates to the nucleus where it drives expression of anti-inflammatory mediators. Targets antigen-presenting cells (APCs) such as macrophages and monocytes and inhibits their release of pro-inflammatory cytokines in [...]


ensembl_gene_id: ENSPTRP00000003322
symbol: PTPN14
gene_biotype: protein_coding
description:
  Tyrosine-protein phosphatase non-receptor type; Belongs to the protein-tyrosine phosphatase family. Non- receptor class subfamily.


ensembl_gene_id: ENSPTRP00000003348
symbol: IARS2
gene_biotype: protein_coding
description:
  Isoleucyl-tRNA synthetase 2, mitochondrial; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSPTRP00000003439
symbol: SRP9
gene_biotype: protein_coding
description:
  Signal recognition particle 9 kDa protein; Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP. The complex of SRP9 and SRP14 is required for SRP RNA binding.


ensembl_gene_id: ENSPTRP00000003444
symbol: EPHX1
gene_biotype: protein_coding
description:
  Epoxide hydrolase; Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water. Belongs to the peptidase S33 family.


ensembl_gene_id: ENSPTRP00000003457
symbol: PARP1
gene_biotype: protein_coding
description:
  Poly [ADP-ribose] polymerase; Poly-ADP-ribosyltransferase that mediates poly-ADP- ribosylation of proteins and plays a key role in DNA repair.


ensembl_gene_id: ENSPTRP00000003471
symbol: TUBB
gene_biotype: protein_coding
description:
  Tubulin beta chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain; Belongs to the tubulin family.


ensembl_gene_id: ENSPTRP00000003483
symbol: WNT9A
gene_biotype: protein_coding
description:
  Protein Wnt; Ligand for members of the frizzled family of seven transmembrane receptors; Belongs to the Wnt family.


ensembl_gene_id: ENSPTRP00000003543
symbol: AGT
gene_biotype: protein_coding
description:
  Angiotensin 1-4; Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis. [Angiotensin-3]: stimulates aldosterone release.


ensembl_gene_id: ENSPTRP00000003602
symbol: GNG4
gene_biotype: protein_coding
description:
  Guanine nucleotide-binding protein subunit gamma; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.


ensembl_gene_id: ENSPTRP00000003643
symbol: CHRM3
gene_biotype: protein_coding
description:
  Muscarinic acetylcholine receptor M3; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover (By similarity).


ensembl_gene_id: ENSPTRP00000003702
symbol: TFB2M
gene_biotype: protein_coding
description:
  rRNA adenine N(6)-methyltransferase; Belongs to the class I-like SAM-binding methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family.


ensembl_gene_id: ENSPTRP00000003778
symbol: GTPBP4
gene_biotype: protein_coding
description:
  Nucleolar GTP-binding protein 1; Involved in the biogenesis of the 60S ribosomal subunit. Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family. NOG subfamily.


ensembl_gene_id: ENSPTRP00000003790
symbol: PFKP
gene_biotype: protein_coding
description:
  ATP-dependent 6-phosphofructokinase; Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis; Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade 'E' sub-subfamily.


ensembl_gene_id: ENSPTRP00000003816
symbol: TUBAL3
gene_biotype: protein_coding
description:
  Tubulin alpha chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.


ensembl_gene_id: ENSPTRP00000003829
symbol: IL2RA
gene_biotype: protein_coding
description:
  Interleukin-2 receptor subunit alpha; Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. TREGs suppress the activation and expansion of autoreactive T-cells.


ensembl_gene_id: ENSPTRP00000003883
symbol: CDC123
gene_biotype: protein_coding
description:
  Cell division cycle protein 123 homolog; Required for S phase entry of the cell cycle. Belongs to the CDC123 family.


ensembl_gene_id: ENSPTRP00000003945
symbol: VIM
gene_biotype: protein_coding
description:
  Vimentin; Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells. Vimentin is attached to the nucleus, endoplasmic reticulum, and mitochondria, either laterally or terminally.


ensembl_gene_id: ENSPTRP00000003948
symbol: ST8SIA6
gene_biotype: protein_coding
description:
  Alpha-2,8-sialyltransferase 8F; Prefers O-glycans to N-glycans or glycolipids as acceptor substrates. The minimal acceptor substrate is the NeuAc-alpha-2,3(6)- Gal sequence at the non-reducing end of their carbohydrate groups (By similarity).


ensembl_gene_id: ENSPTRP00000003951
symbol: HACD1
gene_biotype: protein_coding
description:
  Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase; Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates to the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors  [...]


ensembl_gene_id: ENSPTRP00000003969
symbol: NSUN6
gene_biotype: protein_coding
description:
  NOP2/Sun domain family, member 6; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPTRP00000004049
symbol: BAMBI
gene_biotype: protein_coding
description:
  BMP and activin membrane-bound inhibitor homolog; Negatively regulates TGF-beta signaling. Belongs to the BAMBI family.


ensembl_gene_id: ENSPTRP00000004184
symbol: RET
gene_biotype: protein_coding
description:
  Proto-oncogene tyrosine-protein kinase receptor Ret; Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation upon binding with glial cell derived neurotrophic factor family ligands.


ensembl_gene_id: ENSPTRP00000004422
symbol: SLC25A16
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Mitochondrial carrier Graves disease autoantigen), member 16; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000004501
symbol: PCBD1
gene_biotype: protein_coding
description:
  Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha.


ensembl_gene_id: ENSPTRP00000004578
symbol: FUT11
gene_biotype: protein_coding
description:
  Alpha-(1,3)-fucosyltransferase; Probable fucosyltransferase; Belongs to the glycosyltransferase 10 family.


ensembl_gene_id: ENSPTRP00000004609
symbol: DUPD1
gene_biotype: protein_coding
description:
  Dual specificity phosphatase DUPD1; Dual specificity phosphatase able to dephosphorylate phosphotyrosine, phosphoserine and phosphothreonine residues, with a preference for phosphotyrosine as a substrate. Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPTRP00000004647
symbol: PPIF
gene_biotype: protein_coding
description:
  Peptidyl-prolyl cis-trans isomerase; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides; Belongs to the cyclophilin-type PPIase family.


ensembl_gene_id: ENSPTRP00000004677
symbol: MAT1A
gene_biotype: protein_coding
description:
  S-adenosylmethionine synthase; Catalyzes the formation of S-adenosylmethionine from methionine and ATP.


ensembl_gene_id: ENSPTRP00000004727
symbol: BMPR1A
gene_biotype: protein_coding
description:
  Receptor protein serine/threonine kinase; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.


ensembl_gene_id: ENSPTRP00000004734
symbol: GLUD1
gene_biotype: protein_coding
description:
  Glutamate dehydrogenase 2, mitochondrial; Important for recycling the chief excitatory neurotransmitter, glutamate, during neurotransmission; Belongs to the Glu/Leu/Phe/Val dehydrogenases family.


ensembl_gene_id: ENSPTRP00000004812
symbol: KIF11
gene_biotype: protein_coding
description:
  Kinesin family member 11; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPTRP00000004830
symbol: RBP4
gene_biotype: protein_coding
description:
  Retinol-binding protein 4; Retinol-binding protein that mediates retinol transport in blood plasma. Delivers retinol from the liver stores to the peripheral tissues. Transfers the bound all-trans retinol to STRA6, that then facilitates retinol transport across the cell membrane.


ensembl_gene_id: ENSPTRP00000004885
symbol: DNTT
gene_biotype: protein_coding
description:
  DNA nucleotidylexotransferase; Template-independent DNA polymerase which catalyzes the random addition of deoxynucleoside 5'-triphosphate to the 3'-end of a DNA initiator.


ensembl_gene_id: ENSPTRP00000004968
symbol: GOT1
gene_biotype: protein_coding
description:
  Aspartate aminotransferase, cytoplasmic; Biosynthesis of L-glutamate from L-aspartate or L-cysteine. Important regulator of levels of glutamate, the major excitatory neurotransmitter of the vertebrate central nervous system. Acts as a scavenger of glutamate in brain neuroprotection. The aspartate aminotransferase activity is involved in hepatic glucose synthesis during development and in adipocyte glyceroneogenesis. Using L-cysteine as substrate, regulates levels of mercaptopyruvate, an important source of hydrogen sulfide. Mercaptopyruvate is converted into H(2)S via the action of 3-m [...]


ensembl_gene_id: ENSPTRP00000005085
symbol: ELOVL3
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 3; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18:0 acyl-CoAs. May participate to the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precurs [...]


ensembl_gene_id: ENSPTRP00000005120
symbol: INA
gene_biotype: protein_coding
description:
  Internexin neuronal intermediate filament protein, alpha; Belongs to the intermediate filament family.


ensembl_gene_id: ENSPTRP00000005137
symbol: STN1
gene_biotype: protein_coding
description:
  CST complex subunit STN1; Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation. However, the CST complex has been shown to be involved in several aspects of telomere replication.


ensembl_gene_id: ENSPTRP00000005255
symbol: KCNK18
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 18; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSPTRP00000005269
symbol: EIF3A
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit A; RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termi [...]


ensembl_gene_id: ENSPTRP00000005279
symbol: GRK5
gene_biotype: protein_coding
description:
  G protein-coupled receptor kinase; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily.


ensembl_gene_id: ENSPTRP00000005315
symbol: NSMCE4A
gene_biotype: protein_coding
description:
  Non-structural maintenance of chromosomes element 4; Component of the SMC5-SMC6 complex, that promotes sister chromatid alignment after DNA damage and facilitates double-stranded DNA breaks (DSBs) repair via homologous recombination between sister chromatids.


ensembl_gene_id: ENSPTRP00000005344
symbol: OAT
gene_biotype: protein_coding
description:
  Ornithine aminotransferase; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSPTRP00000005392
symbol: PPP2R2D
gene_biotype: protein_coding
description:
  Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B; Belongs to the phosphatase 2A regulatory subunit B family.


ensembl_gene_id: ENSPTRP00000005441
symbol: CK820_G0051369
gene_biotype: protein_coding
description:
  Gamma-tubulin complex component; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome; Belongs to the TUBGCP family.


ensembl_gene_id: ENSPTRP00000005485
symbol: B4GALNT4
gene_biotype: protein_coding
description:
  Beta-1,4-N-acetylgalactosaminyltransferase; Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'- diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans.


ensembl_gene_id: ENSPTRP00000005525
symbol: TALDO1
gene_biotype: protein_coding
description:
  Transaldolase; Transaldolase is important for the balance of metabolites in the pentose-phosphate pathway.


ensembl_gene_id: ENSPTRP00000005534
symbol: RPLP2
gene_biotype: protein_coding
description:
  Ribosomal protein lateral stalk subunit P2; Belongs to the eukaryotic ribosomal protein P1/P2 family.


ensembl_gene_id: ENSPTRP00000005668
symbol: RRM1
gene_biotype: protein_coding
description:
  Ribonucleoside-diphosphate reductase; Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides.


ensembl_gene_id: ENSPTRP00000005700
symbol: HBB
gene_biotype: protein_coding
description:
  Hemoglobin subunit beta; Involved in oxygen transport from the lung to the various peripheral tissues.


ensembl_gene_id: ENSPTRP00000005708
symbol: HBE1
gene_biotype: protein_coding
description:
  Hemoglobin subunit epsilon; The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin.


ensembl_gene_id: ENSPTRP00000005714
symbol: OR51B6
gene_biotype: protein_coding
description:
  Olfactory receptor family 51 subfamily B member 6; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000005730
symbol: TRIM5
gene_biotype: protein_coding
description:
  Tripartite motif-containing protein 5; Capsid-specific restriction factor that prevents infection from non-host-adapted retroviruses. Blocks viral replication early in the life cycle, after viral entry but before reverse transcription. In addition to acting as a capsid-specific restriction factor, also acts as a pattern recognition receptor that activates innate immune signaling in response to the retroviral capsid lattice. Binding to the viral capsid triggers its E3 ubiquitin ligase activity, and in concert with the heterodimeric ubiquitin conjugating enzyme complex UBE2V1- UBE2N (als [...]


ensembl_gene_id: ENSPTRP00000005736
symbol: OR52N1
gene_biotype: protein_coding
description:
  Olfactory receptor family 52 subfamily N member 1; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000005749
symbol: OR52W1
gene_biotype: protein_coding
description:
  Olfactory receptor family 52 subfamily W member 1; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000005760
symbol: HPX
gene_biotype: protein_coding
description:
  Hemopexin; Binds heme and transports it to the liver for breakdown and iron recovery, after which the free hemopexin returns to the circulation.


ensembl_gene_id: ENSPTRP00000005772
symbol: RRP8
gene_biotype: protein_coding
description:
  Ribosomal RNA-processing protein 8; Essential component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone- modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. In the complex, RRP8 binds to H3K9me2 and pr [...]


ensembl_gene_id: ENSPTRP00000005774
symbol: TPP1
gene_biotype: protein_coding
description:
  Tripeptidyl-peptidase 1; Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus (By similarity).


ensembl_gene_id: ENSPTRP00000005810
symbol: EIF3F
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit F; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSPTRP00000005861
symbol: AMPD3
gene_biotype: protein_coding
description:
  AMP deaminase; Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.


ensembl_gene_id: ENSPTRP00000005898
symbol: PTH
gene_biotype: protein_coding
description:
  Parathyroid hormone; PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion; Belongs to the parathyroid hormone family.


ensembl_gene_id: ENSPTRP00000005903
symbol: COPB1
gene_biotype: protein_coding
description:
  Coatomer subunit beta; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins.


ensembl_gene_id: ENSPTRP00000005931
symbol: PIK3C2A
gene_biotype: protein_coding
description:
  Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSPTRP00000005943
symbol: MYOD1
gene_biotype: protein_coding
description:
  Myogenic factor; Induces fibroblasts to differentiate into myoblasts. Acts as a transcriptional activator that promotes transcription of muscle- specific target genes and plays a role in muscle differentiation.


ensembl_gene_id: ENSPTRP00000005975
symbol: MRGPRX2
gene_biotype: protein_coding
description:
  Mas-related G-protein coupled receptor member X2; Mast cell-specific receptor for basic secretagogues, i.e. cationic amphiphilic drugs, as well as endo- or exogenous peptides, consisting of a basic head group and a hydrophobic core. Recognizes and binds small molecules containing a cyclized tetrahydroisoquinoline (THIQ), such as non-steroidal neuromuscular blocking drugs (NMBDs), including tubocurarine and atracurium. In response to these compounds, mediates pseudo-allergic reactions characterized by histamine release, inflammation and airway contraction; Belongs to the G-protein coupl [...]


ensembl_gene_id: ENSPTRP00000005986
symbol: PRMT3
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase 3; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSPTRP00000006017
symbol: FSHB
gene_biotype: protein_coding
description:
  Follitropin subunit beta; Together with the alpha chain CGA constitutes follitropin, the follicle-stimulating hormone, and provides its biological specificity to the hormone heterodimer. Binds FSHR, a G protein-coupled receptor, on target cells to activate downstream signaling pathways. Follitropin is involved in follicle development and spermatogenesis in reproductive organs.


ensembl_gene_id: ENSPTRP00000006042
symbol: EIF3M
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit M; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSPTRP00000006068
symbol: NAT10
gene_biotype: protein_coding
description:
  RNA cytidine acetyltransferase; RNA cytidine acetyltransferase with specificity toward both 18S rRNA and tRNAs. Catalyzes the formation of N(4)-acetylcytidine (ac4C) in 18S rRNA. Required for early nucleolar cleavages of precursor rRNA at sites A0, A1 and A2 during 18S rRNA synthesis. Catalyzes the formation of ac4C in serine and leucine tRNAs. Requires the tRNA- binding adapter protein THUMPD1 for full tRNA acetyltransferase activity but not for 18S rRNA acetylation.


ensembl_gene_id: ENSPTRP00000006074
symbol: CAT
gene_biotype: protein_coding
description:
  Catalase; Occurs in almost all aerobically respiring organisms and serves to protect cells from the toxic effects of hydrogen peroxide.


ensembl_gene_id: ENSPTRP00000006079
symbol: APIP
gene_biotype: protein_coding
description:
  Methylthioribulose-1-phosphate dehydratase; Catalyzes the dehydration of methylthioribulose-1-phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P). Functions in the methionine salvage pathway, which plays a key role in cancer, apoptosis, microbial proliferation and inflammation. May inhibit the CASP1-related inflammatory response (pyroptosis), the CASP9-dependent apoptotic pathway and the cytochrome c-dependent and APAF1-mediated cell death; Belongs to the aldolase class II family. MtnB subfamily.


ensembl_gene_id: ENSPTRP00000006113
symbol: HSD17B12
gene_biotype: protein_coding
description:
  Hydroxysteroid (17-beta) dehydrogenase 12; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000006168
symbol: F2
gene_biotype: protein_coding
description:
  Prothrombin; Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing; Belongs to the peptidase S1 family.


ensembl_gene_id: ENSPTRP00000006209
symbol: NDUFS3
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, 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: ENSPTRP00000006311
symbol: SSRP1
gene_biotype: protein_coding
description:
  FACT complex subunit SSRP1; Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment o [...]


ensembl_gene_id: ENSPTRP00000006437
symbol: SDHAF2
gene_biotype: protein_coding
description:
  Succinate dehydrogenase assembly factor 2, mitochondrial; Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer.


ensembl_gene_id: ENSPTRP00000006454
symbol: FEN1
gene_biotype: protein_coding
description:
  Flap endonuclease 1; Structure-specific nuclease with 5'-flap endonuclease and 5'- 3' exonuclease activities involved in DNA replication and repair. During DNA replication, cleaves the 5'-overhanging flap structure that is generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. It enters the flap from the 5'-end and then tracks to cleave the flap base, leaving a nick for ligation. Also involved in the long patch base excision repair (LP-BER) pathway, by cleaving within the apurinic/apyrimidinic (AP) site- terminated flap. Acts as  [...]


ensembl_gene_id: ENSPTRP00000006519
symbol: CHRM1
gene_biotype: protein_coding
description:
  Muscarinic acetylcholine receptor; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins.


ensembl_gene_id: ENSPTRP00000006561
symbol: COX8A
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 8A, 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: ENSPTRP00000006592
symbol: KCNK4
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 4; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSPTRP00000006599
symbol: PRDX5
gene_biotype: protein_coding
description:
  Peroxiredoxin; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides; Belongs to the peroxiredoxin family. Prx5 subfamily.


ensembl_gene_id: ENSPTRP00000006629
symbol: PYGM
gene_biotype: protein_coding
description:
  Alpha-1,4 glucan phosphorylase; Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.


ensembl_gene_id: ENSPTRP00000006640
symbol: PPP2R5B
gene_biotype: protein_coding
description:
  Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.


ensembl_gene_id: ENSPTRP00000006673
symbol: POLA2
gene_biotype: protein_coding
description:
  DNA polymerase alpha subunit B; Accessory subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis.


ensembl_gene_id: ENSPTRP00000006810
symbol: RPS6KB2
gene_biotype: protein_coding
description:
  Ribosomal protein S6 kinase; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily.


ensembl_gene_id: ENSPTRP00000006828
symbol: NDUFV1
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] flavoprotein 1, 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: ENSPTRP00000006849
symbol: TCIRG1
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit a; Essential component of the vacuolar proton pump (V-ATPase), a multimeric enzyme that catalyzes the translocation of protons across the membranes. Required for assembly and activity of the V-ATPase.


ensembl_gene_id: ENSPTRP00000006883
symbol: FADD
gene_biotype: protein_coding
description:
  FAS-associated death domain protein; Apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated Fas (CD95) or TNFR-1 receptors. The resulting aggregate called the death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation. Active caspase-8 initiates the subsequent cascade of caspases mediating apoptosis. Involved in interferon-mediated antiviral immune response, playing a role in the positive regulation of interferon signaling.


ensembl_gene_id: ENSPTRP00000006993
symbol: LIPT2
gene_biotype: protein_coding
description:
  Putative lipoyltransferase 2, mitochondrial; Catalyzes the transfer of endogenously produced octanoic acid from octanoyl-acyl-carrier-protein onto the lipoyl domains of lipoate- dependent enzymes. Lipoyl-ACP can also act as a substrate although octanoyl-ACP is likely to be the physiological substrate. Belongs to the LipB family.


ensembl_gene_id: ENSPTRP00000007020
symbol: SERPINH1
gene_biotype: protein_coding
description:
  Serpin peptidase inhibitor, clade H (Heat shock protein 47), member 1, (Collagen binding protein 1); Belongs to the serpin family.


ensembl_gene_id: ENSPTRP00000007062
symbol: AQP11
gene_biotype: protein_coding
description:
  Aquaporin; Aquaporins facilitate the transport of water and small neutral solutes across cell membranes.


ensembl_gene_id: ENSPTRP00000007237
symbol: PGR
gene_biotype: protein_coding
description:
  Progesterone receptor; The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcriptional activator of several progesteron-dependent promoters in a variety of cell types. Involved in activation of SRC-dependent MAPK signaling on hormone stimulation.


ensembl_gene_id: ENSPTRP00000007239
symbol: TRPC6
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel, subfamily C, member 6; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPTRP00000007345
symbol: CRYAB
gene_biotype: protein_coding
description:
  Crystallin alpha B; 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: ENSPTRP00000007349
symbol: DLAT
gene_biotype: protein_coding
description:
  Acetyltransferase component of pyruvate dehydrogenase complex; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2).


ensembl_gene_id: ENSPTRP00000007359
symbol: IL18
gene_biotype: protein_coding
description:
  Interleukin-18; A proinflammatory cytokine primarily involved in polarized T- helper 1 (Th1) cell and natural killer (NK) cell immune responses. Upon binding to IL18R1 and IL18RAP, forms a signaling ternary complex which activates NF-kappa-B, triggering synthesis of inflammatory mediators. Synergizes with IL12/interleukin-12 to induce IFNG synthesis from T- helper 1 (Th1) cells and natural killer (NK) cells. Belongs to the IL-1 family.


ensembl_gene_id: ENSPTRP00000007404
symbol: APOA1
gene_biotype: protein_coding
description:
  Truncated apolipoprotein A-I; Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility (By similarity).


ensembl_gene_id: ENSPTRP00000007446
symbol: ATP5MG
gene_biotype: protein_coding
description:
  ATP synthase subunit; Mitochondrial membrane ATP synthase (F1F0 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, F1 - containing the extramembraneous catalytic core, and F0 - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F1 is coupled via a rotary mechanism of the central stalk subunits to proto [...]


ensembl_gene_id: ENSPTRP00000007565
symbol: PANX3
gene_biotype: protein_coding
description:
  Pannexin; Structural component of the gap junctions and the hemichannels; Belongs to the pannexin family.


ensembl_gene_id: ENSPTRP00000007569
symbol: SPA17
gene_biotype: protein_coding
description:
  Sperm surface protein Sp17; Sperm surface zona pellucida binding protein. Helps to bind spermatozoa to the zona pellucida with high affinity. Might function in binding zona pellucida and carbohydrates.


ensembl_gene_id: ENSPTRP00000007620
symbol: ST3GAL4
gene_biotype: protein_coding
description:
  CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4; Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4- GlcNAc-, and NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. It may be involved in the biosynthesis of the sialyl Lewis X determinant. Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSPTRP00000007679
symbol: OPCML
gene_biotype: protein_coding
description:
  Opioid-binding protein/cell adhesion molecule; Binds opioids in the presence of acidic lipids; probably involved in cell contact; Belongs to the immunoglobulin superfamily. IgLON family.


ensembl_gene_id: ENSPTRP00000007685
symbol: NCAPD3
gene_biotype: protein_coding
description:
  Condensin-2 complex subunit D3; Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis.


ensembl_gene_id: ENSPTRP00000007742
symbol: CACNA1C
gene_biotype: protein_coding
description:
  Voltage-dependent L-type calcium channel subunit alpha; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death; Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family.


ensembl_gene_id: ENSPTRP00000007766
symbol: TEAD4
gene_biotype: protein_coding
description:
  Transcriptional enhancer factor TEF-3; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis.


ensembl_gene_id: ENSPTRP00000007773
symbol: PRMT8
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase 8; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSPTRP00000007791
symbol: NDUFA9
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPTRP00000007794
symbol: KCNA1
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel, shaker-related subfamily, member 1 (Episodic ataxia with myokymia); Belongs to the potassium channel family.


ensembl_gene_id: ENSPTRP00000007869
symbol: RBP5
gene_biotype: protein_coding
description:
  Retinol binding protein 5; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPTRP00000007892
symbol: NANOG
gene_biotype: protein_coding
description:
  Homeobox protein NANOG; Transcription regulator involved in inner cell mass and embryonic stem (ES) cells proliferation and self-renewal. Imposes pluripotency on ES cells and prevents their differentiation towards extraembryonic endoderm and trophectoderm lineages. Blocks bone morphogenetic protein-induced mesoderm differentiation of ES cells by physically interacting with SMAD1 and interfering with the recruitment of coactivators to the active SMAD transcriptional complexes. Acts as a transcriptional activator or repressor. Binds optimally to the DNA consensus sequence 5'-TAAT[GT][GT] [...]


ensembl_gene_id: ENSPTRP00000007897
symbol: SLC2A3
gene_biotype: protein_coding
description:
  Solute carrier family 2 (Facilitated glucose transporter), member 3; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPTRP00000007992
symbol: KLRK1
gene_biotype: protein_coding
description:
  NKG2-D type II integral membrane protein; Functions as an activating and costimulatory receptor involved in immunosurveillance upon binding to various cellular stress- inducible ligands displayed at the surface of autologous tumor cells and virus-infected cells. Provides both stimulatory and costimulatory innate immune responses on activated killer (NK) cells, leading to cytotoxic activity. Acts as a costimulatory receptor for T-cell receptor (TCR) in CD8(+) T-cell-mediated adaptive immune responses by amplifying T-cell activation. Stimulates perforin-mediated elimination of ligand-exp [...]


ensembl_gene_id: ENSPTRP00000008011
symbol: TAS2R7
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 7; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 (By similarity).


ensembl_gene_id: ENSPTRP00000008012
symbol: TAS2R8
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 8; 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: ENSPTRP00000008013
symbol: TAS2R9
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 9; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 (By similarity).


ensembl_gene_id: ENSPTRP00000008035
symbol: LRP6
gene_biotype: protein_coding
description:
  Low-density lipoprotein receptor-related protein; Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Belongs to the LDLR family.


ensembl_gene_id: ENSPTRP00000008098
symbol: CAPZA3
gene_biotype: protein_coding
description:
  F-actin-capping protein subunit alpha; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments.


ensembl_gene_id: ENSPTRP00000008127
symbol: GYS2
gene_biotype: protein_coding
description:
  Glycogen [starch] synthase; Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan.


ensembl_gene_id: ENSPTRP00000008252
symbol: SLC2A13
gene_biotype: protein_coding
description:
  Solute carrier family 2 (Facilitated glucose transporter), member 13; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPTRP00000008350
symbol: CCNT1
gene_biotype: protein_coding
description:
  Cyclin-T1; Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin-T1) complex, also called positive transcription elongation factor B (P-TEFb), which is proposed to facilitate the transition from abortive to productive elongation by phosphorylating the CTD (C- terminal domain) of the large subunit of RNA polymerase II (RNA Pol II). In case of SIV infection, binds to the nuclear transcriptional activator Tat, increasing Tat's affinity for the transactivating response RNA element (TAR RNA). Serves as an essential cofactor for Tat, by promoting RNA Pol II activation, allowing [...]


ensembl_gene_id: ENSPTRP00000008374
symbol: TUBA1A
gene_biotype: protein_coding
description:
  Detyrosinated tubulin alpha-1A 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).


ensembl_gene_id: ENSPTRP00000008473
symbol: ACVRL1
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase receptor; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.


ensembl_gene_id: ENSPTRP00000008537
symbol: AMHR2
gene_biotype: protein_coding
description:
  Anti-Muellerian hormone type-2 receptor; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone.


ensembl_gene_id: ENSPTRP00000008547
symbol: ATF7
gene_biotype: protein_coding
description:
  Cyclic AMP-dependent transcription factor ATF-7; Plays important functions in early cell signaling. Binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AG][AG]-3'), a sequence present in many viral and cellular promoters.


ensembl_gene_id: ENSPTRP00000008549
symbol: ATP5MC2
gene_biotype: protein_coding
description:
  ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (Subunit 9); Belongs to the ATPase C chain family.


ensembl_gene_id: ENSPTRP00000008558
symbol: HOXC9
gene_biotype: protein_coding
description:
  Homeobox protein; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Belongs to the Abd-B homeobox family.


ensembl_gene_id: ENSPTRP00000008686
symbol: ATP5F1B
gene_biotype: protein_coding
description:
  ATP synthase subunit beta; Produces ATP from ADP in the presence of a proton gradient across the membrane.


ensembl_gene_id: ENSPTRP00000008692
symbol: SDR9C7
gene_biotype: protein_coding
description:
  Short chain dehydrogenase/reductase family 9C member 7; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000008740
symbol: KIF5A
gene_biotype: protein_coding
description:
  Kinesin family member 5A; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPTRP00000008761
symbol: METTL1
gene_biotype: protein_coding
description:
  tRNA (guanine-N(7)-)-methyltransferase; Catalyzes the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA; Belongs to the class I-like SAM-binding methyltransferase superfamily. TrmB family.


ensembl_gene_id: ENSPTRP00000008822
symbol: IFNG
gene_biotype: protein_coding
description:
  Interferon gamma; Produced by lymphocytes activated by specific antigens or mitogens. IFN-gamma, in addition to having antiviral activity, has important immunoregulatory functions. It is a potent activator of macrophages, it has antiproliferative effects on transformed cells and it can potentiate the antiviral and antitumor effects of the type I interferons (By similarity).


ensembl_gene_id: ENSPTRP00000008899
symbol: KRR1
gene_biotype: protein_coding
description:
  KRR1 small subunit processome component; Required for 40S ribosome biogenesis. Involved in nucleolar processing of pre-18S ribosomal RNA and ribosome assembly.


ensembl_gene_id: ENSPTRP00000008940
symbol: LIN7A
gene_biotype: protein_coding
description:
  Protein lin-7 homolog; Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells; Belongs to the lin-7 family.


ensembl_gene_id: ENSPTRP00000008974
symbol: KITLG
gene_biotype: protein_coding
description:
  Kit ligand; Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. Belongs to the SCF family.


ensembl_gene_id: ENSPTRP00000008976
symbol: DUSP6
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPTRP00000008989
symbol: DCN
gene_biotype: protein_coding
description:
  Decorin; May affect the rate of fibrils formation; Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily.


ensembl_gene_id: ENSPTRP00000009029
symbol: METAP2
gene_biotype: protein_coding
description:
  Methionine aminopeptidase 2; Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met- Ala-, Cys, Gly, Pro, Ser, Thr, or Val). Belongs to the peptidase M24A family. Methionine aminopeptidase eukaryotic type 2 subfamily.


ensembl_gene_id: ENSPTRP00000009141
symbol: ALDH1L2
gene_biotype: protein_coding
description:
  10-formyltetrahydrofolate dehydrogenase; In the C-terminal section; belongs to the aldehyde dehydrogenase family. ALDH1L subfamily.


ensembl_gene_id: ENSPTRP00000009163
symbol: PRDM4
gene_biotype: protein_coding
description:
  PR domain zinc finger protein 4; May function as a transcription factor involved in cell differentiation.


ensembl_gene_id: ENSPTRP00000009171
symbol: LOC738449
gene_biotype: protein_coding
description:
  Iron-sulfur cluster scaffold homolog; 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: ENSPTRP00000009190
symbol: UNG
gene_biotype: protein_coding
description:
  Uracil-DNA glycosylase; Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine; Belongs to the uracil-DNA glycosylase (UDG) superfamily. UNG family.


ensembl_gene_id: ENSPTRP00000009208
symbol: MVK
gene_biotype: protein_coding
description:
  Mevalonate kinase; Catalyzes the phosphorylation of mevalonate to mevalonate 5- phosphate, a key step in isoprenoid and cholesterol biosynthesis. Belongs to the GHMP kinase family. Mevalonate kinase subfamily.


ensembl_gene_id: ENSPTRP00000009231
symbol: ATP2A2
gene_biotype: protein_coding
description:
  Calcium-transporting ATPase; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium.


ensembl_gene_id: ENSPTRP00000009315
symbol: SLC8B1
gene_biotype: protein_coding
description:
  Solute carrier family 24 (Sodium/potassium/calcium exchanger), member 6; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSPTRP00000009333
symbol: MED13L
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 13; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPTRP00000009367
symbol: HSPB8
gene_biotype: protein_coding
description:
  Heat shock protein family B (small) member 8; Belongs to the small heat shock protein (HSP20) family.


ensembl_gene_id: ENSPTRP00000009383
symbol: SIRT4
gene_biotype: protein_coding
description:
  NAD-dependent protein lipoamidase sirtuin-4, mitochondrial; Acts as NAD-dependent protein lipoamidase, ADP-ribosyl transferase and deacetylase. Catalyzes more efficiently removal of lipoyl- and biotinyl- than acetyl-lysine modifications. Inhibits the pyruvate dehydrogenase complex (PDH) activity via the enzymatic hydrolysis of the lipoamide cofactor from the E2 component, DLAT, in a phosphorylation-independent manner. Catalyzes the transfer of ADP- ribosyl groups onto target proteins, including mitochondrial GLUD1, inhibiting GLUD1 enzyme activity. Acts as a negative regulator of mitoc [...]


ensembl_gene_id: ENSPTRP00000009396
symbol: COQ5
gene_biotype: protein_coding
description:
  2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial; Methyltransferase required for the conversion of 2- polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3-methyl- 6-methoxy-1,4-benzoquinol (DMQH2).


ensembl_gene_id: ENSPTRP00000009527
symbol: EIF2B1
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa; Belongs to the eIF-2B alpha/beta/delta subunits family.


ensembl_gene_id: ENSPTRP00000009701
symbol: EEF1AKMT1
gene_biotype: protein_coding
description:
  EEF1A lysine methyltransferase 1; Protein-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at 'Lys-79'; Belongs to the class I-like SAM-binding methyltransferase superfamily. EFM5 family.


ensembl_gene_id: ENSPTRP00000009739
symbol: CENPJ
gene_biotype: protein_coding
description:
  Centromere protein J; Plays an important role in cell division and centrosome function by participating in centriole duplication. Inhibits microtubule nucleation from the centrosome. Involved in the regulation of slow processive growth of centriolar microtubules. Acts as microtubule plus-end tracking protein that stabilizes centriolar microtubules and inhibits microtubule polymerization and extension from the distal ends of centrioles. Required for centriole elongation and for STIL-mediated centriole amplification. Required for the recruitment of CEP295 to the proximal end of new-born  [...]


ensembl_gene_id: ENSPTRP00000009769
symbol: PDX1
gene_biotype: protein_coding
description:
  Pancreas/duodenum homeobox protein 1; Activates insulin and somatostatin gene transcription. Key regulator of islet peptide hormone expression but also responsible for the development of the pancreas, most probably by determining maturation and differentiation of common pancreatic precursor cells in the developing gut. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element [...]


ensembl_gene_id: ENSPTRP00000009773
symbol: FLT3
gene_biotype: protein_coding
description:
  Fms related tyrosine kinase 3; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSPTRP00000009777
symbol: FLT1
gene_biotype: protein_coding
description:
  Fms related tyrosine kinase 1; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSPTRP00000009792
symbol: KATNAL1
gene_biotype: protein_coding
description:
  Katanin p60 ATPase-containing subunit A-like 1; Catalytic subunit of a complex which severs microtubules in an ATP-dependent manner. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neur [...]


ensembl_gene_id: ENSPTRP00000009968
symbol: SUCLA2
gene_biotype: protein_coding
description:
  Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial; ATP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of ATP and thus represents the only step of substrate-level phosphorylation in the TCA. The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit.


ensembl_gene_id: ENSPTRP00000009971
symbol: MED4
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 4; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPTRP00000009973
symbol: ITM2B
gene_biotype: protein_coding
description:
  Integral membrane protein 2B; Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites (By similarity).  Bri23 peptide prevents aggregation of APP amyloid-beta protein 42 into toxic oligomers; Belongs to the ITM2 family.


ensembl_gene_id: ENSPTRP00000010130
symbol: GPC5
gene_biotype: protein_coding
description:
  GPC5 isoform 2; Cell surface proteoglycan that bears heparan sulfate. Belongs to the glypican family.


ensembl_gene_id: ENSPTRP00000010132
symbol: GPC6
gene_biotype: protein_coding
description:
  GPC6 isoform 1; Cell surface proteoglycan that bears heparan sulfate. Belongs to the glypican family.


ensembl_gene_id: ENSPTRP00000010305
symbol: ATP4B
gene_biotype: protein_coding
description:
  Sodium/potassium-transporting ATPase subunit beta; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. Belongs to the X(+)/potassium ATPases subunit beta family.


ensembl_gene_id: ENSPTRP00000010343
symbol: OSGEP
gene_biotype: protein_coding
description:
  Probable tRNA N6-adenosine threonylcarbamoyltransferase; Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. OSGEP likely plays a direct catalytic role in this reaction, but requires other protein(s) of the complex to fulfill this activity.


ensembl_gene_id: ENSPTRP00000010344
symbol: APEX1
gene_biotype: protein_coding
description:
  DNA-(apurinic or apyrimidinic site) lyase, mitochondrial; Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 are DNA repair and redox regulation of transcriptional factors. Functions as a apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break w [...]


ensembl_gene_id: ENSPTRP00000010345
symbol: PIP4P1
gene_biotype: protein_coding
description:
  Phosphatidylinositol-4,5-bisphosphate 4-phosphatase; Catalyzes the hydrolysis of phosphatidylinositol-4,5- bisphosphate (PtdIns-4,5-P2) to phosphatidylinositol-4-phosphate (PtdIns-4-P).


ensembl_gene_id: ENSPTRP00000010346
symbol: PNP
gene_biotype: protein_coding
description:
  Purine nucleoside phosphorylase; The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta- (deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate.


ensembl_gene_id: ENSPTRP00000010349
symbol: RNASE9
gene_biotype: protein_coding
description:
  Inactive ribonuclease-like protein 9; Does not exhibit any ribonuclease activity; Belongs to the pancreatic ribonuclease family.


ensembl_gene_id: ENSPTRP00000010358
symbol: RNASE6
gene_biotype: protein_coding
description:
  Ribonuclease K6; Ribonuclease which shows a preference for the pyrimidines uridine and cytosine. Has potent antibacterial activity against a range of Gram-positive and Gram-negative bacteria, including P.aeruginosa, A.baumanii, M.luteus, S.aureus, E.faecalis, E.faecium, S.saprophyticus and E.coli. Causes loss of bacterial membrane integrity, and also promotes agglutination of Gram-negative bacteria. Probably contributes to urinary tract sterility. Bactericidal activity is independent of RNase activity.


ensembl_gene_id: ENSPTRP00000010360
symbol: RNASE1
gene_biotype: protein_coding
description:
  Ribonuclease pancreatic; Endonuclease that catalyzes the cleavage of RNA on the 3' side of pyrimidine nucleotides. Acts on single-stranded and double- stranded RNA (By similarity); Belongs to the pancreatic ribonuclease family.


ensembl_gene_id: ENSPTRP00000010392
symbol: CHD8
gene_biotype: protein_coding
description:
  Chromodomain-helicase-DNA-binding protein 8; DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive [...]


ensembl_gene_id: ENSPTRP00000010410
symbol: DAD1
gene_biotype: protein_coding
description:
  Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the [...]


ensembl_gene_id: ENSPTRP00000010538
symbol: GMPR2
gene_biotype: protein_coding
description:
  GMP reductase; Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides.


ensembl_gene_id: ENSPTRP00000010577
symbol: PRKD1
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.


ensembl_gene_id: ENSPTRP00000010626
symbol: SRP54
gene_biotype: protein_coding
description:
  Signal recognition particle 54 kDa protein; Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein). Belongs to the GTP-binding SRP family. SRP54 subfamily.


ensembl_gene_id: ENSPTRP00000010655
symbol: PAX9
gene_biotype: protein_coding
description:
  Paired box protein Pax-9; Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs.


ensembl_gene_id: ENSPTRP00000010658
symbol: SLC25A21
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Mitochondrial oxodicarboxylate carrier), member 21; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000010666
symbol: SEC23A
gene_biotype: protein_coding
description:
  Protein transport protein SEC23; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules; Belongs to the SEC23/SEC24 family. SEC23 subfamily.


ensembl_gene_id: ENSPTRP00000010668
symbol: GEMIN2
gene_biotype: protein_coding
description:
  Gem-associated protein 2; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs; Belongs to the gemin-2 family.


ensembl_gene_id: ENSPTRP00000010708
symbol: DNAAF2
gene_biotype: protein_coding
description:
  Protein kintoun; Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.


ensembl_gene_id: ENSPTRP00000010712
symbol: POLE2
gene_biotype: protein_coding
description:
  DNA polymerase epsilon subunit; Participates in DNA repair and in chromosomal DNA replication; Belongs to the DNA polymerase epsilon subunit B family.


ensembl_gene_id: ENSPTRP00000010729
symbol: MAP4K5
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase kinase 5; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.


ensembl_gene_id: ENSPTRP00000010757
symbol: PTGER2
gene_biotype: protein_coding
description:
  Prostaglandin E receptor 2 (Subtype EP2), 53kDa; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000010781
symbol: CDKN3
gene_biotype: protein_coding
description:
  Cyclin-dependent kinase inhibitor 3; May play a role in cell cycle regulation. Dual specificity phosphatase active toward substrates containing either phosphotyrosine or phosphoserine residues.


ensembl_gene_id: ENSPTRP00000010815
symbol: TBPL2
gene_biotype: protein_coding
description:
  TATA box-binding protein-like protein 2; Transcription factor required in complex with TAF3 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process (By similarity).


ensembl_gene_id: ENSPTRP00000010829
symbol: AP5M1
gene_biotype: protein_coding
description:
  Adaptor related protein complex 5 subunit mu 1; Belongs to the adaptor complexes medium subunit family.


ensembl_gene_id: ENSPTRP00000010870
symbol: DHRS7
gene_biotype: protein_coding
description:
  Dehydrogenase/reductase (SDR family) member 7; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000010883
symbol: TRMT5
gene_biotype: protein_coding
description:
  tRNA (guanine(37)-N1)-methyltransferase; Specifically methylates the N1 position of guanosine-37 in various cytoplasmic and mitochondrial tRNAs. Methylation is not dependent on the nature of the nucleoside 5' of the target nucleoside. This is the first step in the biosynthesis of wybutosine (yW), a modified base adjacent to the anticodon of tRNAs and required for accurate decoding; Belongs to the TRM5 / TYW2 family.


ensembl_gene_id: ENSPTRP00000010886
symbol: PRKCH
gene_biotype: protein_coding
description:
  Protein kinase C eta type; Calcium-independent, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase that is involved in the regulation of cell differentiation in keratinocytes and pre-B cell receptor, mediates regulation of epithelial tight junction integrity and foam cell formation, and is required for glioblastoma proliferation and apoptosis prevention in MCF-7 cells. In keratinocytes, binds and activates the tyrosine kinase FYN, which in turn blocks epidermal growth factor receptor (EGFR) signaling and leads to keratinocyte growth arrest and differentia [...]


ensembl_gene_id: ENSPTRP00000010932
symbol: FNTB
gene_biotype: protein_coding
description:
  Protein farnesyltransferase subunit beta; Essential subunit of the farnesyltransferase complex. Catalyzes the transfer of a farnesyl moiety from farnesyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X.


ensembl_gene_id: ENSPTRP00000010948
symbol: FUT8
gene_biotype: protein_coding
description:
  Alpha-(1,6)-fucosyltransferase; Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans.


ensembl_gene_id: ENSPTRP00000011045
symbol: PSEN1
gene_biotype: protein_coding
description:
  Presenilin; Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. Belongs to the peptidase A22A family.


ensembl_gene_id: ENSPTRP00000011076
symbol: COQ6
gene_biotype: protein_coding
description:
  Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial; FAD-dependent monooxygenase required for the C5-ring hydroxylation during ubiquinone biosynthesis. Catalyzes the hydroxylation of 3-polyprenyl-4-hydroxybenzoic acid to 3-polyprenyl- 4,5-dihydroxybenzoic acid. The electrons required for the hydroxylation reaction may be funneled indirectly from NADPH via a ferredoxin/ferredoxin reductase system to COQ6.


ensembl_gene_id: ENSPTRP00000011092
symbol: NPC2
gene_biotype: protein_coding
description:
  NPC intracellular cholesterol transporter 2; Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment. Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1. May bind and mobilize cholesterol that is associated with membranes. NPC2 binds cholesterol with a 1:1 stoichiometry. Can bind a variety of sterols, including lathosterol, desmosterol and the pl [...]


ensembl_gene_id: ENSPTRP00000011120
symbol: EIF2B2
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa; Belongs to the eIF-2B alpha/beta/delta subunits family.


ensembl_gene_id: ENSPTRP00000011169
symbol: NGB
gene_biotype: protein_coding
description:
  Neuroglobin; Involved in oxygen transport in the brain. Hexacoordinate globin, displaying competitive binding of oxygen or the distal His residue to the iron atom. Not capable of penetrating cell membranes (By similarity).


ensembl_gene_id: ENSPTRP00000011231
symbol: KCNK10
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 10; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSPTRP00000011272
symbol: KCNK13
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 13; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSPTRP00000011334
symbol: NDUFB1
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPTRP00000011398
symbol: SERPINA3
gene_biotype: protein_coding
description:
  Serpin peptidase inhibitor, clade A (Alpha-1 antiproteinase, antitrypsin), member 3; Belongs to the serpin family.


ensembl_gene_id: ENSPTRP00000011401
symbol: GSC
gene_biotype: protein_coding
description:
  Homeobox protein goosecoid; Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals (By similarity); Belongs to the paired homeobox family. Bicoid subfamily.


ensembl_gene_id: ENSPTRP00000011447
symbol: EVL
gene_biotype: protein_coding
description:
  Enah/Vasp-like; 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: ENSPTRP00000011507
symbol: CDC42BPB
gene_biotype: protein_coding
description:
  CDC42 binding protein kinase beta (DMPK-like); Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.


ensembl_gene_id: ENSPTRP00000011530
symbol: TRMT61A
gene_biotype: protein_coding
description:
  tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A; Catalytic subunit of tRNA (adenine-N(1)-)-methyltransferase, which catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA.


ensembl_gene_id: ENSPTRP00000011539
symbol: XRCC3
gene_biotype: protein_coding
description:
  DNA repair protein; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions; Belongs to the RecA family. RAD51 subfamily.


ensembl_gene_id: ENSPTRP00000011567
symbol: SIVA1
gene_biotype: protein_coding
description:
  Apoptosis regulatory protein Siva; Induces CD27-mediated apoptosis. Inhibits BCL2L1 isoform Bcl- x(L) anti-apoptotic activity. Inhibits activation of NF-kappa-B and promotes T-cell receptor-mediated apoptosis.


ensembl_gene_id: ENSPTRP00000011713
symbol: FAN1
gene_biotype: protein_coding
description:
  Fanconi-associated nuclease; Nuclease required for the repair of DNA interstrand cross- links (ICL). Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Belongs to the FAN1 family.


ensembl_gene_id: ENSPTRP00000011746
symbol: CHRM5
gene_biotype: protein_coding
description:
  Muscarinic acetylcholine receptor M5; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover; Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM5 sub-subfamily.


ensembl_gene_id: ENSPTRP00000011771
symbol: AQR
gene_biotype: protein_coding
description:
  RNA helicase aquarius; Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis. Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly. May act by helping the folding of the snoRNA sequence. Binds to intron of pre- mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing.


ensembl_gene_id: ENSPTRP00000011774
symbol: DPH6
gene_biotype: protein_coding
description:
  Diphthine--ammonia ligase; Amidase that catalyzes the last step of diphthamide biosynthesis using ammonium and ATP.


ensembl_gene_id: ENSPTRP00000011810
symbol: PLCB2
gene_biotype: protein_coding
description:
  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes.


ensembl_gene_id: ENSPTRP00000011848
symbol: NDUFAF1
gene_biotype: protein_coding
description:
  Complex I intermediate-associated protein 30, mitochondrial; Chaperone protein involved in early stages of the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).


ensembl_gene_id: ENSPTRP00000011887
symbol: EHD4
gene_biotype: protein_coding
description:
  EH-domain containing 4; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPTRP00000011934
symbol: UBR1
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase; Ubiquitin ligase protein which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N- terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation.


ensembl_gene_id: ENSPTRP00000011997
symbol: B2M
gene_biotype: protein_coding
description:
  Beta-2-microglobulin; Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system (By similarity).


ensembl_gene_id: ENSPTRP00000012022
symbol: SLC28A2
gene_biotype: protein_coding
description:
  Sodium/nucleoside cotransporter; Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family.


ensembl_gene_id: ENSPTRP00000012038
symbol: SLC24A5
gene_biotype: protein_coding
description:
  Solute carrier family 24 member 5; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSPTRP00000012069
symbol: ATP8B4
gene_biotype: protein_coding
description:
  Phospholipid-transporting ATPase; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.


ensembl_gene_id: ENSPTRP00000012088
symbol: AP4E1
gene_biotype: protein_coding
description:
  AP-4 complex subunit epsilon; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin- associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.


ensembl_gene_id: ENSPTRP00000012186
symbol: GTF2A2
gene_biotype: protein_coding
description:
  Transcription initiation factor IIA subunit 2; TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation; Belongs to the TFIIA subunit 2 family.


ensembl_gene_id: ENSPTRP00000012229
symbol: HERC1
gene_biotype: protein_coding
description:
  Hect (Homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1.


ensembl_gene_id: ENSPTRP00000012249
symbol: PIF1
gene_biotype: protein_coding
description:
  ATP-dependent DNA helicase PIF1; DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of both mitochondrial and nuclear genome stability. Efficiently unwinds G-quadruplex (G4) DNA structures and forked RNA-DNA hybrids. Resolves G4 structures, preventing replication pausing and double-strand breaks (DSBs) at G4 motifs. Involved in the maintenance of telomeric DNA. Inhibits telomere elongation, de novo telomere formation and telomere addition to DSBs via catalytic inhibition of telomerase. Reduces the processivity of telomerase by displacing active telomerase from DNA [...]


ensembl_gene_id: ENSPTRP00000012286
symbol: SLC24A1
gene_biotype: protein_coding
description:
  Solute carrier family 24 member 1; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSPTRP00000012301
symbol: TIPIN
gene_biotype: protein_coding
description:
  TIMELESS-interacting protein; Plays an important role in the control of DNA replication and the maintenance of replication fork stability. Belongs to the CSM3 family.


ensembl_gene_id: ENSPTRP00000012364
symbol: RPLP1
gene_biotype: protein_coding
description:
  Ribosomal protein lateral stalk subunit P1; Belongs to the eukaryotic ribosomal protein P1/P2 family.


ensembl_gene_id: ENSPTRP00000012471
symbol: MPI
gene_biotype: protein_coding
description:
  Mannose-6-phosphate isomerase; Involved in the synthesis of the GDP-mannose and dolichol- phosphate-mannose required for a number of critical mannosyl transfer reactions.


ensembl_gene_id: ENSPTRP00000012492
symbol: SNUPN
gene_biotype: protein_coding
description:
  Snurportin-1; Functions as an U snRNP-specific nuclear import adapter. Involved in the trimethylguanosine (m3G)-cap-dependent nuclear import of U snRNPs. Binds specifically to the terminal m3G-cap U snRNAs. Belongs to the snurportin family.


ensembl_gene_id: ENSPTRP00000012548
symbol: CRABP1
gene_biotype: protein_coding
description:
  Cellular retinoic acid binding protein 1; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPTRP00000012554
symbol: CHRNA5
gene_biotype: protein_coding
description:
  Neuronal acetylcholine receptor subunit alpha-5; 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.


ensembl_gene_id: ENSPTRP00000012595
symbol: IL16
gene_biotype: protein_coding
description:
  Pro-interleukin-16; Interleukin-16 stimulates a migratory response in CD4+ lymphocytes, monocytes, and eosinophils. Primes CD4+ T-cells for IL-2 and IL-15 responsiveness. Also induces T-lymphocyte expression of interleukin 2 receptor. Ligand for CD4 (By similarity).


ensembl_gene_id: ENSPTRP00000012756
symbol: FES
gene_biotype: protein_coding
description:
  Tyrosine-protein kinase; Belongs to the protein kinase superfamily. Tyr protein kinase family. Fes/fps subfamily.


ensembl_gene_id: ENSPTRP00000012857
symbol: HBZ
gene_biotype: protein_coding
description:
  Hemoglobin subunit zeta; The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin; Belongs to the globin family.


ensembl_gene_id: ENSPTRP00000012895
symbol: RHOT2
gene_biotype: protein_coding
description:
  Mitochondrial Rho GTPase; Mitochondrial GTPase involved in mitochondrial trafficking. Belongs to the mitochondrial Rho GTPase family.


ensembl_gene_id: ENSPTRP00000012897
symbol: RHBDL1
gene_biotype: protein_coding
description:
  Rhomboid-related protein 1; May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors; Belongs to the peptidase S54 family.


ensembl_gene_id: ENSPTRP00000012975
symbol: TSR3
gene_biotype: protein_coding
description:
  Probable ribosome biogenesis protein C16orf42 homolog; Probable pre-rRNA processing protein involved in ribosome biogenesis.


ensembl_gene_id: ENSPTRP00000013017
symbol: NDUFB10
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPTRP00000013031
symbol: NTHL1
gene_biotype: protein_coding
description:
  Endonuclease III-like protein 1; Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage. The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP lyase activity cleaves the phosphodiester bond 3' to the AP site by a beta-elimination. Primarily recognizes and repairs oxidative base damage of pyrimidines.


ensembl_gene_id: ENSPTRP00000013102
symbol: KREMEN2
gene_biotype: protein_coding
description:
  Kremen protein; Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6.


ensembl_gene_id: ENSPTRP00000013197
symbol: SEPTIN12
gene_biotype: protein_coding
description:
  SEPT12 isoform 1; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPTRP00000013232
symbol: ABAT
gene_biotype: protein_coding
description:
  4-aminobutyrate aminotransferase; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSPTRP00000013257
symbol: TNP2
gene_biotype: protein_coding
description:
  Nuclear transition protein 2; Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction.


ensembl_gene_id: ENSPTRP00000013259
symbol: PRM1
gene_biotype: protein_coding
description:
  Protamine-2; Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex.


ensembl_gene_id: ENSPTRP00000013343
symbol: XYLT1
gene_biotype: protein_coding
description:
  Xylosyltransferase 1; Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D- xylose from UDP-D-xylose to specific serine residues of the core protein. Required for normal maturation of chondrocytes during bone development, normal onset of ossification and normal embryonic and postnatal skeleton development, especially of the long bones.


ensembl_gene_id: ENSPTRP00000013359
symbol: COQ7
gene_biotype: protein_coding
description:
  5-demethoxyubiquinone hydroxylase, mitochondrial; Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6- methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis. Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone- independent manner.


ensembl_gene_id: ENSPTRP00000013456
symbol: SCNN1G
gene_biotype: protein_coding
description:
  Amiloride-sensitive sodium channel subunit gamma; 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 sweat glands. Also plays a role in taste perception.


ensembl_gene_id: ENSPTRP00000013457
symbol: SCNN1B
gene_biotype: protein_coding
description:
  Amiloride-sensitive sodium channel subunit beta; 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 sweat glands. Also plays a role in taste perception; Belongs to the amiloride-sensit [...]


ensembl_gene_id: ENSPTRP00000013471
symbol: NDUFAB1
gene_biotype: protein_coding
description:
  Acyl carrier protein, mitochondrial; Carrier of the growing fatty acid chain in fatty acid biosynthesis (By similarity). Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain (By similarity).


ensembl_gene_id: ENSPTRP00000013479
symbol: PRKCB
gene_biotype: protein_coding
description:
  Protein kinase C; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily.


ensembl_gene_id: ENSPTRP00000013568
symbol: EIF3C
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit C; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSPTRP00000013572
symbol: TUFM
gene_biotype: protein_coding
description:
  Elongation factor Tu; This protein promotes the GTP-dependent binding of aminoacyl- tRNA to the A-site of ribosomes during protein biosynthesis.


ensembl_gene_id: ENSPTRP00000013670
symbol: SEPTIN1
gene_biotype: protein_coding
description:
  SEPT1 isoform 3; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPTRP00000013673
symbol: DCTPP1
gene_biotype: protein_coding
description:
  dCTP pyrophosphatase 1; Hydrolyzes deoxynucleoside triphosphates (dNTPs) to the corresponding nucleoside monophosphates. Has a strong preference for dCTP and its analogs including 5-iodo-dCTP and 5-methyl-dCTP for which it may even have a higher efficiency. May protect DNA or RNA against the incorporation of these genotoxic nucleotide analogs through their catabolism.


ensembl_gene_id: ENSPTRP00000013809
symbol: PHKB
gene_biotype: protein_coding
description:
  Phosphorylase b kinase regulatory subunit; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. Belongs to the phosphorylase b kinase regulatory chain family.


ensembl_gene_id: ENSPTRP00000013818
symbol: LONP2
gene_biotype: protein_coding
description:
  Lon protease homolog 2, peroxisomal; ATP-dependent serine protease that mediates the selective degradation of misfolded and unassembled polypeptides in the peroxisomal matrix. Necessary for type 2 peroxisome targeting signal (PTS2)-containing protein processing and facilitates peroxisome matrix protein import. May indirectly regulate peroxisomal fatty acid beta- oxidation through degradation of the self-processed forms of TYSND1.


ensembl_gene_id: ENSPTRP00000013820
symbol: SIAH1
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.


ensembl_gene_id: ENSPTRP00000013836
symbol: NOD2
gene_biotype: protein_coding
description:
  Nucleotide-binding oligomerization domain-containing protein 2; Involved in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macroph [...]


ensembl_gene_id: ENSPTRP00000013877
symbol: NUDT21
gene_biotype: protein_coding
description:
  Cleavage and polyadenylation specificity factor subunit 5; Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs. CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation. The  [...]


ensembl_gene_id: ENSPTRP00000013881
symbol: MT4
gene_biotype: protein_coding
description:
  Metallothionein; Metallothioneins have a high content of cysteine residues that bind various heavy metals.


ensembl_gene_id: ENSPTRP00000013924
symbol: COQ9
gene_biotype: protein_coding
description:
  Ubiquinone biosynthesis protein; Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration.


ensembl_gene_id: ENSPTRP00000013946
symbol: KATNB1
gene_biotype: protein_coding
description:
  Katanin p80 WD40 repeat-containing subunit B1; Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Micr [...]


ensembl_gene_id: ENSPTRP00000014055
symbol: ATP6V0D1
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit; Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. Belongs to the V-ATPase V0D/AC39 subunit family.


ensembl_gene_id: ENSPTRP00000014110
symbol: PRMT7
gene_biotype: protein_coding
description:
  Protein arginine N-methyltransferase; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Specifically mediates the symmetric dimethylation of histone H4 'Arg-3' to form H4R3me2s. Plays a role in gene imprinting by being r [...]


ensembl_gene_id: ENSPTRP00000014220
symbol: TAT
gene_biotype: protein_coding
description:
  Tyrosine aminotransferase; Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate.


ensembl_gene_id: ENSPTRP00000014234
symbol: DHODH
gene_biotype: protein_coding
description:
  Dihydroorotate dehydrogenase (quinone), mitochondrial; Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily.


ensembl_gene_id: ENSPTRP00000014259
symbol: FA2H
gene_biotype: protein_coding
description:
  Fatty acid 2-hydroxylase; Catalyzes stereospecific hydroxylation of free fatty acids at the C-2 position to produce (R)-2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis. Plays an essential role in the synthesis of galactosphingolipids of the myelin sheath. Responsible for the synthesis of sphingolipids and glycosphingolipids involved in the formation of epidermal lamellar bodies critical for skin permeability barrier. Participates in the synthesis of glycosphingolipids and a fraction of type II wax diesters i [...]


ensembl_gene_id: ENSPTRP00000014317
symbol: GCSH
gene_biotype: protein_coding
description:
  Glycine cleavage system H protein; The H protein shuttles the methylamine group of glycine from the P protein to the T protein; Belongs to the GcvH family.


ensembl_gene_id: ENSPTRP00000014332
symbol: HSD17B2
gene_biotype: protein_coding
description:
  Hydroxysteroid 17-beta dehydrogenase 2; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000014351
symbol: HSDL1
gene_biotype: protein_coding
description:
  Hydroxysteroid dehydrogenase like 1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000014359
symbol: KCNG4
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily G member 4; Belongs to the potassium channel family.


ensembl_gene_id: ENSPTRP00000014386
symbol: COX4I1
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 4 isoform 1, 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 tran [...]


ensembl_gene_id: ENSPTRP00000014423
symbol: MVD
gene_biotype: protein_coding
description:
  Diphosphomevalonate decarboxylase; Performs the first committed step in the biosynthesis of isoprenes.


ensembl_gene_id: ENSPTRP00000014428
symbol: CTU2
gene_biotype: protein_coding
description:
  Cytoplasmic tRNA 2-thiolation protein 2; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with CTU1/ATPBD3 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position. Belongs to the CTU2/NCS2 family.


ensembl_gene_id: ENSPTRP00000014538
symbol: YWHAE
gene_biotype: protein_coding
description:
  Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide; Belongs to the 14-3-3 family.


ensembl_gene_id: ENSPTRP00000014573
symbol: RPA1
gene_biotype: protein_coding
description:
  Replication protein A subunit; As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates, that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage.


ensembl_gene_id: ENSPTRP00000014578
symbol: DPH1
gene_biotype: protein_coding
description:
  2-(3-amino-3-carboxypropyl)histidine synthase subunit 1; Required for the first step of diphthamide biosynthesis, the transfer of 3-amino-3-carboxypropyl from S-adenosyl-L-methionine to a histidine residue. Diphthamide is a post-translational modification of histidine which occurs in elongation factor 2.


ensembl_gene_id: ENSPTRP00000014621
symbol: TRPV3
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily V member 3; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPTRP00000014623
symbol: TRPV1
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily V member 1; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPTRP00000014688
symbol: MED11
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 11; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPTRP00000014753
symbol: MED31
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 31; 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: ENSPTRP00000014790
symbol: SLC2A4
gene_biotype: protein_coding
description:
  SLC2A4 isoform 1; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPTRP00000014806
symbol: PLSCR3
gene_biotype: protein_coding
description:
  Phospholipid scramblase; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. Belongs to the phospholipid scramblase family.


ensembl_gene_id: ENSPTRP00000014825
symbol: EIF4A1
gene_biotype: protein_coding
description:
  Eukaryotic initiation factor 4A-I; ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon (By similarity).


ensembl_gene_id: ENSPTRP00000014836
symbol: TP53
gene_biotype: protein_coding
description:
  Cellular tumor antigen p53; Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression; Belongs to the p53 family.


ensembl_gene_id: ENSPTRP00000014984
symbol: COX10
gene_biotype: protein_coding
description:
  Protoheme IX farnesyltransferase, mitochondrial; Converts protoheme IX and farnesyl diphosphate to heme O. Belongs to the ubiA prenyltransferase family.


ensembl_gene_id: ENSPTRP00000015003
symbol: ADORA2B
gene_biotype: protein_coding
description:
  Adenosine receptor A2; Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000015013
symbol: TRPV2
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel, subfamily V, member 2; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPTRP00000015055
symbol: MED9
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 9; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPTRP00000015059
symbol: PEMT
gene_biotype: protein_coding
description:
  Phosphatidylethanolamine N-methyltransferase; Catalyzes the three sequential steps of the methylation pathway of phosphatidylcholine biosynthesis, the SAM-dependent methylation of phosphatidylethanolamine (PE) to phosphatidylmonomethylethanolamine (PMME), PMME to phosphatidyldimethylethanolamine (PDME), and PDME to phosphatidylcholine (PC); Belongs to the class VI-like SAM-binding methyltransferase superfamily. PEMT/PEM2 methyltransferase family.


ensembl_gene_id: ENSPTRP00000015133
symbol: MAPK7
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. MAP kinase subfamily.


ensembl_gene_id: ENSPTRP00000015206
symbol: TMEM97
gene_biotype: protein_coding
description:
  Transmembrane protein 97; Intracellular orphan receptor that binds numerous drugs and which is highly expressed in various proliferating cells. Corresponds to the sigma-2 receptor, which is thought to play important role in regulating cell survival, morphology and differentiation. May play a role as a regulator of cellular cholesterol homeostasis. May function as sterol isomerase. May alter the activity of some cytochrome P450 proteins.


ensembl_gene_id: ENSPTRP00000015242
symbol: SUPT6H
gene_biotype: protein_coding
description:
  Transcription elongation factor spt6; Transcription elongation factor that enhances transcription elongation by RNA polymerase II (RNAPII). Belongs to the SPT6 family.


ensembl_gene_id: ENSPTRP00000015298
symbol: GOSR1
gene_biotype: protein_coding
description:
  Golgi SNAP receptor complex member 1; Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide-sensitive factor) attachment protein receptor.


ensembl_gene_id: ENSPTRP00000015351
symbol: ASIC2
gene_biotype: protein_coding
description:
  Acid sensing ion channel subunit 2; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSPTRP00000015385
symbol: PEX12
gene_biotype: protein_coding
description:
  Peroxisome assembly protein 12; Required for protein import into peroxisomes. Belongs to the pex2/pex10/pex12 family.


ensembl_gene_id: ENSPTRP00000015490
symbol: MED1
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 1; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPTRP00000015505
symbol: PGAP3
gene_biotype: protein_coding
description:
  Post-GPI attachment to proteins factor 3; Involved in the lipid remodeling steps of GPI-anchor maturation; Belongs to the PGAP3 family.


ensembl_gene_id: ENSPTRP00000015543
symbol: CDC6
gene_biotype: protein_coding
description:
  Cell division control protein; Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated; Belongs to the CDC6/cdc18 family.


ensembl_gene_id: ENSPTRP00000015554
symbol: TOP2A
gene_biotype: protein_coding
description:
  DNA topoisomerase 2; Control of topological states of DNA by transient breakage and subsequent rejoining of DNA strands. Topoisomerase II makes double- strand breaks.


ensembl_gene_id: ENSPTRP00000015562
symbol: KRT25
gene_biotype: protein_coding
description:
  Keratin, type I cytoskeletal 25; Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs) (By similarity). Plays a role in the cytoskeleton organization (By similarity).


ensembl_gene_id: ENSPTRP00000015625
symbol: KRT17
gene_biotype: protein_coding
description:
  Keratin, type I cytoskeletal 17; Type I keratin involved in the formation and maintenance of various skin appendages, specifically in determining shape and orientation of hair. Required for the correct growth of hair follicles, in particular for the persistence of the anagen (growth) state. Modulates the function of TNF-alpha in the specific context of hair cycling. Regulates protein synthesis and epithelial cell growth through binding to the adapter protein SFN and by stimulating Akt/mTOR pathway. Involved in tissue repair. May be a marker of basal cell differentiation in complex epit [...]


ensembl_gene_id: ENSPTRP00000015650
symbol: CNP
gene_biotype: protein_coding
description:
  2',3'-cyclic-nucleotide 3'-phosphodiesterase; May participate in RNA metabolism in the myelinating cell, CNP is the third most abundant protein in central nervous system myelin; Belongs to the 2H phosphoesterase superfamily. CNPase family.


ensembl_gene_id: ENSPTRP00000015664
symbol: HCRT
gene_biotype: protein_coding
description:
  Orexin; Neuropeptides that play a significant role in the regulation of food intake and sleep-wakefulness, possibly by coordinating the complex behavioral and physiologic responses of these complementary homeostatic functions. A broader role in the homeostatic regulation of energy metabolism, autonomic function, hormonal balance and the regulation of body fluids, is also suggested. Belongs to the orexin family.


ensembl_gene_id: ENSPTRP00000015686
symbol: TUBG1
gene_biotype: protein_coding
description:
  Tubulin gamma chain; Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome.


ensembl_gene_id: ENSPTRP00000015740
symbol: MEOX1
gene_biotype: protein_coding
description:
  Homeobox protein MOX-1; Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development. Required for maintenance of the sclerotome polarity and formation of the cranio-cervical joints. Binds specifically to the promoter of target genes and regulates their expression. Activates expression of NKX3-2 in the sclerotome. Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independen [...]


ensembl_gene_id: ENSPTRP00000015756
symbol: HDAC5
gene_biotype: protein_coding
description:
  Histone deacetylase; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events.


ensembl_gene_id: ENSPTRP00000015802
symbol: NMT1
gene_biotype: protein_coding
description:
  Glycylpeptide N-tetradecanoyltransferase; Adds a myristoyl group to the N-terminal glycine residue of certain cellular proteins; Belongs to the NMT family.


ensembl_gene_id: ENSPTRP00000015840
symbol: MAPT
gene_biotype: protein_coding
description:
  Microtubule-associated protein tau; Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both. Axonal polarity is predetermined by tau localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabili [...]


ensembl_gene_id: ENSPTRP00000015853
symbol: GOSR2
gene_biotype: protein_coding
description:
  T0180267 isoform 1; Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.


ensembl_gene_id: ENSPTRP00000015889
symbol: COPZ2
gene_biotype: protein_coding
description:
  Coatomer subunit zeta; The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-dissociation properties with the coatomer complex.


ensembl_gene_id: ENSPTRP00000015899
symbol: HOXB1
gene_biotype: protein_coding
description:
  Homeobox protein Hox-B1; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures (By similarity); Belongs to the Antp homeobox family. Labial subfamily.


ensembl_gene_id: ENSPTRP00000015966
symbol: RSAD1
gene_biotype: protein_coding
description:
  Radical S-adenosyl methionine domain-containing protein; May be a heme chaperone, appears to bind heme. Homologous bacterial proteins do not have oxygen-independent coproporphyrinogen- III oxidase activity. Binds 1 [4Fe-4S] cluster. The cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L- methionine; Belongs to the anaerobic coproporphyrinogen-III oxidase family.


ensembl_gene_id: ENSPTRP00000016018
symbol: NOG
gene_biotype: protein_coding
description:
  Noggin; Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite.


ensembl_gene_id: ENSPTRP00000016051
symbol: SUPT4H1
gene_biotype: protein_coding
description:
  Transcription elongation factor SPT4; Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates transcription elongation by RNA polymerase II; Belongs to the SPT4 family.


ensembl_gene_id: ENSPTRP00000016175
symbol: FTSJ3
gene_biotype: protein_coding
description:
  pre-rRNA processing protein FTSJ3; Probable methyltransferase involved in the processing of the 34S pre-rRNA to 18S rRNA and in 40S ribosomal subunit formation. Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family. SPB1 subfamily.


ensembl_gene_id: ENSPTRP00000016186
symbol: GH1
gene_biotype: protein_coding
description:
  Growth hormone variant; Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues.


ensembl_gene_id: ENSPTRP00000016195
symbol: SCN4A
gene_biotype: protein_coding
description:
  Sodium channel protein; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.


ensembl_gene_id: ENSPTRP00000016198
symbol: ICAM2
gene_biotype: protein_coding
description:
  Intercellular adhesion molecule 2; ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM2 may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance (By similarity).


ensembl_gene_id: ENSPTRP00000016210
symbol: DDX5
gene_biotype: protein_coding
description:
  Probable ATP-dependent RNA helicase DDX5; Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre- mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for androgen receptor AR but probably not ESR1. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 t [...]


ensembl_gene_id: ENSPTRP00000016233
symbol: APOH
gene_biotype: protein_coding
description:
  Beta-2-glycoprotein 1; Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells.


ensembl_gene_id: ENSPTRP00000016240
symbol: CACNG1
gene_biotype: protein_coding
description:
  Voltage-dependent calcium channel gamma-1 subunit; Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Regulates channel inactivation kinetics.


ensembl_gene_id: ENSPTRP00000016293
symbol: SOX9
gene_biotype: protein_coding
description:
  Transcription factor SOX-9; Transcriptional regulator that plays a role in chondrocytes differentiation and skeletal development. Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with ZNF219.


ensembl_gene_id: ENSPTRP00000016341
symbol: SLC9A3R1
gene_biotype: protein_coding
description:
  Na(+)/H(+) exchange regulatory cofactor NHE-RF; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression.


ensembl_gene_id: ENSPTRP00000016363
symbol: ATP5PD
gene_biotype: protein_coding
description:
  ATP synthase subunit d, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the cent [...]


ensembl_gene_id: ENSPTRP00000016381
symbol: SLC25A19
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Mitochondrial thiamine pyrophosphate carrier), member 19; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000016459
symbol: AANAT
gene_biotype: protein_coding
description:
  Serotonin N-acetyltransferase; Controls the night/day rhythm of melatonin production in the pineal gland. Catalyzes the N-acetylation of serotonin into N- acetylserotonin, the penultimate step in the synthesis of melatonin (By similarity); Belongs to the acetyltransferase family. AANAT subfamily.


ensembl_gene_id: ENSPTRP00000016467
symbol: ST6GALNAC1
gene_biotype: protein_coding
description:
  ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSPTRP00000016506
symbol: AFMID
gene_biotype: protein_coding
description:
  Kynurenine formamidase; Catalyzes the hydrolysis of N-formyl-L-kynurenine to L- kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites.


ensembl_gene_id: ENSPTRP00000016518
symbol: PGS1
gene_biotype: protein_coding
description:
  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase; Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin; Belongs to the CDP-alcohol phosphatidyltransferase class-II family.


ensembl_gene_id: ENSPTRP00000016628
symbol: HGS
gene_biotype: protein_coding
description:
  Hepatocyte growth factor-regulated tyrosine kinase substrate; Involved in intracellular signal transduction mediated by cytokines and growth factors. When associated with STAM, it suppresses DNA signaling upon stimulation by IL-2 and GM-CSF. Could be a direct effector of PI3-kinase in vesicular pathway via early endosomes and may regulate trafficking to early and late endosomes by recruiting clathrin. May concentrate ubiquitinated receptors within clathrin- coated regions. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with STAM (E [...]


ensembl_gene_id: ENSPTRP00000016743
symbol: TGIF1
gene_biotype: protein_coding
description:
  Homeobox protein TGIF1; Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activitie [...]


ensembl_gene_id: ENSPTRP00000016815
symbol: PSMG2
gene_biotype: protein_coding
description:
  Proteasome assembly chaperone 2; Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1. Belongs to the PSMG2 family.


ensembl_gene_id: ENSPTRP00000016907
symbol: DSC2
gene_biotype: protein_coding
description:
  DSC2 isoform 1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSPTRP00000016911
symbol: DSC1
gene_biotype: protein_coding
description:
  DSC1 isoform 1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSPTRP00000016913
symbol: DSG1
gene_biotype: protein_coding
description:
  DSG1 isoform 1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSPTRP00000016949
symbol: ZNF24
gene_biotype: protein_coding
description:
  Zinc finger protein 24; Transcription factor required for myelination of differentiated oligodendrocytes. Required for the conversion of oligodendrocytes from the premyelinating to the myelinating state. In the developing central nervous system (CNS), involved in the maintenance in the progenitor stage by promoting the cell cycle. Specifically binds to the 5'-TCAT-3' DNA sequence. Has transcription repressor activity in vitro (By similarity).


ensembl_gene_id: ENSPTRP00000016965
symbol: MOCOS
gene_biotype: protein_coding
description:
  Molybdenum cofactor sulfurase; Sulfurates the molybdenum cofactor. Sulfation of molybdenum is essential for xanthine dehydrogenase (XDH) and aldehyde oxidase (ADO) enzymes in which molybdenum cofactor is liganded by 1 oxygen and 1 sulfur atom in active form.


ensembl_gene_id: ENSPTRP00000016998
symbol: ST8SIA5
gene_biotype: protein_coding
description:
  Alpha-2,8-sialyltransferase 8E; May be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b and GT3 from GD1a, GT1b, GM1b and GD3 respectively.


ensembl_gene_id: ENSPTRP00000017122
symbol: KDSR
gene_biotype: protein_coding
description:
  3-ketodihydrosphingosine reductase; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000017217
symbol: CTDP1
gene_biotype: protein_coding
description:
  RNA polymerase II subunit A C-terminal domain phosphatase; This promotes the activity of RNA polymerase II.


ensembl_gene_id: ENSPTRP00000017218
symbol: KCNG2
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily G member 2; Belongs to the potassium channel family.


ensembl_gene_id: ENSPTRP00000017257
symbol: POLRMT
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Belongs to the phage and mitochondrial RNA polymerase family.


ensembl_gene_id: ENSPTRP00000017377
symbol: AP3D1
gene_biotype: protein_coding
description:
  AP-3 complex subunit delta; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane.


ensembl_gene_id: ENSPTRP00000017430
symbol: NCLN
gene_biotype: protein_coding
description:
  Nicalin; May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning.


ensembl_gene_id: ENSPTRP00000017442
symbol: DOHH
gene_biotype: protein_coding
description:
  Deoxyhypusine hydroxylase; Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)-L- lysine intermediate to form hypusine, an essential post-translational modification only found in mature eIF-5A factor; Belongs to the deoxyhypusine hydroxylase family.


ensembl_gene_id: ENSPTRP00000017466
symbol: RAX2
gene_biotype: protein_coding
description:
  Retina and anterior neural fold homeobox protein 2; May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter (By similarity).


ensembl_gene_id: ENSPTRP00000017536
symbol: SEMA6B
gene_biotype: protein_coding
description:
  Sema domain, transmembrane domain (TM), and cytoplasmic domain, (Semaphorin) 6B; Belongs to the semaphorin family.


ensembl_gene_id: ENSPTRP00000017625
symbol: GTF2F1
gene_biotype: protein_coding
description:
  Transcription initiation factor IIF subunit alpha; TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation. Belongs to the TFIIF alpha subunit family.


ensembl_gene_id: ENSPTRP00000017631
symbol: SLC25A23
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Mitochondrial carrier phosphate carrier), member 23; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000017711
symbol: TIMM44
gene_biotype: protein_coding
description:
  Mitochondrial import inner membrane translocase subunit TIM44; Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner; Belongs to the Tim44 family.


ensembl_gene_id: ENSPTRP00000017727
symbol: NDUFA7
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7; 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: ENSPTRP00000017818
symbol: EIF3G
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit G; RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termi [...]


ensembl_gene_id: ENSPTRP00000017861
symbol: AP1M2
gene_biotype: protein_coding
description:
  AP-1 complex subunit mu-2; 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: ENSPTRP00000017866
symbol: QTRT1
gene_biotype: protein_coding
description:
  Queuine tRNA-ribosyltransferase catalytic subunit 1; Catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2- cyclopenten-1-yl)amino)methyl)-7-deazaguanosine). Catalysis occurs through a double-displacement mechanism. The nucleophile active site attacks the C1' of nucleotide 34 to detach the guanine base from the RNA, formi [...]


ensembl_gene_id: ENSPTRP00000018000
symbol: RNASEH2A
gene_biotype: protein_coding
description:
  Ribonuclease; Endonuclease that specifically degrades the RNA of RNA-DNA hybrids; Belongs to the RNase HII family.


ensembl_gene_id: ENSPTRP00000018015
symbol: NFIX
gene_biotype: protein_coding
description:
  Nuclear factor 1; Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.


ensembl_gene_id: ENSPTRP00000018031
symbol: MRI1
gene_biotype: protein_coding
description:
  Methylthioribose-1-phosphate isomerase; Catalyzes the interconversion of methylthioribose-1-phosphate (MTR-1-P) into methylthioribulose-1-phosphate (MTRu-1-P). Belongs to the eIF-2B alpha/beta/delta subunits family. MtnA subfamily.


ensembl_gene_id: ENSPTRP00000018051
symbol: RLN3
gene_biotype: protein_coding
description:
  Relaxin-3 A chain; May play a role in neuropeptide signaling processes. Ligand for LGR7, relaxin-3 receptor-1 (GPCR135) and relaxin-3 receptor-2 (GPCR142) (By similarity).


ensembl_gene_id: ENSPTRP00000018081
symbol: NDUFB7
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7; 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: ENSPTRP00000018248
symbol: MPV17L2
gene_biotype: protein_coding
description:
  MPV17 mitochondrial inner membrane protein like 2; Belongs to the peroxisomal membrane protein PXMP2/4 family.


ensembl_gene_id: ENSPTRP00000018312
symbol: NCAN
gene_biotype: protein_coding
description:
  Neurocan core protein; May modulate neuronal adhesion and neurite growth during development by binding to neural cell adhesion molecules (NG-CAM and N- CAM). Chondroitin sulfate proteoglycan; binds to hyaluronic acid (By similarity); Belongs to the aggrecan/versican proteoglycan family.


ensembl_gene_id: ENSPTRP00000018331
symbol: ATP13A1
gene_biotype: protein_coding
description:
  Cation-transporting ATPase; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.


ensembl_gene_id: ENSPTRP00000018458
symbol: UQCRFS1
gene_biotype: protein_coding
description:
  Cytochrome b-c1 complex subunit Rieske, mitochondrial; [Cytochrome b-c1 complex subunit Rieske, mitochondrial]: Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b- c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and su [...]


ensembl_gene_id: ENSPTRP00000018461
symbol: POP4
gene_biotype: protein_coding
description:
  Ribonuclease P protein subunit p29; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends.


ensembl_gene_id: ENSPTRP00000018512
symbol: UBA2
gene_biotype: protein_coding
description:
  SUMO-activating enzyme subunit 2; The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2. Belongs to the ubiquitin-activating E1 family.


ensembl_gene_id: ENSPTRP00000018557
symbol: CD22
gene_biotype: protein_coding
description:
  B-cell receptor CD22; Mediates B-cell B-cell interactions. May be involved in the localization of B-cells in lymphoid tissues. Binds sialylated glycoproteins; one of which is CD45. Preferentially binds to alpha-2,6- linked sialic acid (By similarity). Upon ligand-induced tyrosine phosphorylation in the immune response seems to be involved in regulation of B-cell antigen receptor signaling. Plays a role in positive regulation through interaction with Src family tyrosine kinases and may also act as an inhibitory receptor by recruiting cytoplasmic phosphatases via their SH2 domains that b [...]


ensembl_gene_id: ENSPTRP00000018588
symbol: ZBTB32
gene_biotype: protein_coding
description:
  Zinc finger and BTB domain-containing protein 32; DNA-binding protein that binds to the to a 5'-TGTACAGTGT-3' core sequence. May function as a transcriptional transactivator and transcriptional repressor. Probably exerts its repressor effect by preventing GATA3 from binding to DNA. May play a role in regulating the differentiation and activation of helper T-cells (By similarity).


ensembl_gene_id: ENSPTRP00000018605
symbol: HSPB6
gene_biotype: protein_coding
description:
  Heat shock protein, alpha-crystallin-related, B6; Belongs to the small heat shock protein (HSP20) family.


ensembl_gene_id: ENSPTRP00000018632
symbol: TYROBP
gene_biotype: protein_coding
description:
  TYRO protein tyrosine kinase-binding protein; Adapter protein which non-covalently associates with activating receptors found on the surface of a variety of immune cells to mediate signaling and cell activation following ligand binding by the receptors (By similarity). TYROBP is tyrosine-phosphorylated in the ITAM domain following ligand binding by the associated receptors which leads to activation of additional tyrosine kinases and subsequent cell activation (By similarity). Also has an inhibitory role in some cells (By similarity). Non-covalently associates with activating receptors  [...]


ensembl_gene_id: ENSPTRP00000018648
symbol: POLR2I
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase subunit; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Belongs to the archaeal rpoM/eukaryotic RPA12/RPB9/RPC11 RNA polymerase family.


ensembl_gene_id: ENSPTRP00000018667
symbol: ZNF566
gene_biotype: protein_coding
description:
  Zinc finger protein 566; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPTRP00000018746
symbol: EIF3K
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit K; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSPTRP00000018812
symbol: TIMM50
gene_biotype: protein_coding
description:
  Mitochondrial import inner membrane translocase subunit TIM50; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.


ensembl_gene_id: ENSPTRP00000018933
symbol: BCKDHA
gene_biotype: protein_coding
description:
  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3); Belongs to the BCKDHA family.


ensembl_gene_id: ENSPTRP00000019123
symbol: BLOC1S3
gene_biotype: protein_coding
description:
  Biogenesis of lysosome-related organelles complex 1 subunit 3; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO). Belongs to the BLOC1S3 family.


ensembl_gene_id: ENSPTRP00000019181
symbol: PGLYRP1
gene_biotype: protein_coding
description:
  Peptidoglycan-recognition protein; Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Involved in innate immunity.


ensembl_gene_id: ENSPTRP00000019245
symbol: EHD2-2
gene_biotype: protein_coding
description:
  EH-domain-containing protein 2; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPTRP00000019247
symbol: NOP53
gene_biotype: protein_coding
description:
  Ribosome biogenesis protein NOP53; May play a role in ribosome biogenesis. Belongs to the NOP53 family.


ensembl_gene_id: ENSPTRP00000019269
symbol: EMP3
gene_biotype: protein_coding
description:
  Epithelial membrane protein 3; Probably involved in cell proliferation and cell-cell interactions; Belongs to the PMP-22/EMP/MP20 family.


ensembl_gene_id: ENSPTRP00000019306
symbol: BCAT2
gene_biotype: protein_coding
description:
  Branched-chain-amino-acid aminotransferase; Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSPTRP00000019403
symbol: NOSIP
gene_biotype: protein_coding
description:
  Nitric oxide synthase-interacting protein; Negatively regulates nitric oxide production by inducing NOS1 and NOS3 translocation to actin cytoskeleton and inhibiting their enzymatic activity; Belongs to the NOSIP family.


ensembl_gene_id: ENSPTRP00000019540
symbol: CTU1
gene_biotype: protein_coding
description:
  Cytoplasmic tRNA 2-thiolation protein 1; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). Directly binds tRNAs and probably acts by catalyzing adenylation of tRNAs, an intermediate required for 2-thiolation. It is unclear whether it acts as a sulfurtransferase that transfers sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position; Belongs to the TtcA family. CTU1/NCS6/ATPBD3 subfamily.


ensembl_gene_id: ENSPTRP00000019552
symbol: LIM2
gene_biotype: protein_coding
description:
  Lens fiber membrane intrinsic protein; Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis; Belongs to the PMP-22/EMP/MP20 family.


ensembl_gene_id: ENSPTRP00000019567
symbol: FPR1
gene_biotype: protein_coding
description:
  fMet-Leu-Phe receptor; High affinity receptor for N-formyl-methionyl peptides (fMLP), which are powerful neutrophil chemotactic factors. Binding of fMLP to the receptor stimulates intracellular calcium mobilization and superoxide anion release. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system (By similarity). Receptor for TAFA4, mediates its effects on chemoattracting macrophages, promoting phagocytosis and increasing ROS release (By similarity).


ensembl_gene_id: ENSPTRP00000019652
symbol: CACNG7
gene_biotype: protein_coding
description:
  Voltage-dependent calcium channel gamma-7 subunit; Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (By similarity). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Shows specificity only for GRIA1 and GRIA2. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.


ensembl_gene_id: ENSPTRP00000019654
symbol: CACNG6
gene_biotype: protein_coding
description:
  Voltage-dependent calcium channel gamma-6 subunit; Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.


ensembl_gene_id: ENSPTRP00000019749
symbol: RDH13
gene_biotype: protein_coding
description:
  Retinol dehydrogenase 13 (All-trans/9-cis); Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000020007
symbol: MBOAT2
gene_biotype: protein_coding
description:
  Membrane bound O-acyltransferase domain containing 2; Belongs to the membrane-bound acyltransferase family.


ensembl_gene_id: ENSPTRP00000020019
symbol: YWHAQ
gene_biotype: protein_coding
description:
  Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide; Belongs to the 14-3-3 family.


ensembl_gene_id: ENSPTRP00000020075
symbol: KCNS3
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily S member 3; Belongs to the potassium channel family.


ensembl_gene_id: ENSPTRP00000020130
symbol: ADCY3
gene_biotype: protein_coding
description:
  Adenylate cyclase type 3; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSPTRP00000020159
symbol: HADHA
gene_biotype: protein_coding
description:
  Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha; Belongs to the enoyl-CoA hydratase/isomerase family.


ensembl_gene_id: ENSPTRP00000020160
symbol: HADHB
gene_biotype: protein_coding
description:
  Trifunctional enzyme subunit beta, mitochondrial; Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway. The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA. Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specificity for long-chain fatty acids. Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional enz [...]


ensembl_gene_id: ENSPTRP00000020197
symbol: SLC5A6
gene_biotype: protein_coding
description:
  Solute carrier family 5 (Sodium-dependent vitamin transporter), member 6; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.


ensembl_gene_id: ENSPTRP00000020206
symbol: MPV17
gene_biotype: protein_coding
description:
  Mitochondrial inner membrane protein MPV17; Belongs to the peroxisomal membrane protein PXMP2/4 family.


ensembl_gene_id: ENSPTRP00000020211
symbol: EIF2B4
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa; Belongs to the eIF-2B alpha/beta/delta subunits family.


ensembl_gene_id: ENSPTRP00000020228
symbol: GPN1
gene_biotype: protein_coding
description:
  GPN-loop GTPase; Small GTPase required for proper nuclear import of RNA polymerase II (RNAPII). May act at an RNAP assembly step prior to nuclear import.


ensembl_gene_id: ENSPTRP00000020233
symbol: RBKS
gene_biotype: protein_coding
description:
  Ribokinase; Catalyzes the phosphorylation of ribose at O-5 in a reaction requiring ATP and magnesium. The resulting D-ribose-5-phosphate can then be used either for sythesis of nucleotides, histidine, and tryptophan, or as a component of the pentose phosphate pathway.


ensembl_gene_id: ENSPTRP00000020280
symbol: SPAST
gene_biotype: protein_coding
description:
  Spastin; ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated. Preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold. Severing activity is not dependent on tubulin acetylation or detyrosination. Microtubule severing promotes reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation [...]


ensembl_gene_id: ENSPTRP00000020325
symbol: SULT6B1
gene_biotype: protein_coding
description:
  Sulfotransferase 6B1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of thyroxine. Involved in the metabolism of thyroxine (By similarity).


ensembl_gene_id: ENSPTRP00000020328
symbol: NDUFAF7
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase NDUFAF7; Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).


ensembl_gene_id: ENSPTRP00000020357
symbol: MAP4K3
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase kinase 3; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.


ensembl_gene_id: ENSPTRP00000020372
symbol: KCNG3
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily G member 3; Belongs to the potassium channel family.


ensembl_gene_id: ENSPTRP00000020411
symbol: PRKCE
gene_biotype: protein_coding
description:
  Protein kinase C epsilon type; Calcium-independent, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase that plays essential roles in the regulation of multiple cellular processes linked to cytoskeletal proteins, such as cell adhesion, motility, migration and cell cycle, functions in neuron growth and ion channel regulation, and is involved in immune response, cancer cell invasion and regulation of apoptosis. Mediates cell adhesion to the extracellular matrix via integrin- dependent signaling, by mediating angiotensin-2-induced activation of integrin beta- [...]


ensembl_gene_id: ENSPTRP00000020451
symbol: LHCGR
gene_biotype: protein_coding
description:
  Lutropin-choriogonadotropic hormone receptor; Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase; Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.


ensembl_gene_id: ENSPTRP00000020457
symbol: FSHR
gene_biotype: protein_coding
description:
  Follicle-stimulating hormone receptor; G protein-coupled receptor for follitropin, the follicle- stimulating hormone. Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways.


ensembl_gene_id: ENSPTRP00000020465
symbol: CHAC2
gene_biotype: protein_coding
description:
  Gamma-glutamylcyclotransferase; Catalyzes the cleavage of glutathione into 5-oxo-L-proline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides; Belongs to the gamma-glutamylcyclotransferase family.


ensembl_gene_id: ENSPTRP00000020664
symbol: ATP6V1B1
gene_biotype: protein_coding
description:
  Vacuolar proton pump subunit B; Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase; Belongs to the ATPase alpha/beta chains family.


ensembl_gene_id: ENSPTRP00000020671
symbol: MPHOSPH10
gene_biotype: protein_coding
description:
  U3 small nucleolar ribonucleoprotein protein MPP10; Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing; Belongs to the MPP10 family.


ensembl_gene_id: ENSPTRP00000020696
symbol: CCT7
gene_biotype: protein_coding
description:
  T-complex protein 1 subunit eta; Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. Known to play a role, in vitro, in the folding of actin and tubulin.


ensembl_gene_id: ENSPTRP00000020798
symbol: SUCLG1
gene_biotype: protein_coding
description:
  Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial; Succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of either ATP or GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The alpha subunit of the enzyme binds the substrates coenzyme A and phosphate, while succinate binding and specificity for either ATP or GTP is provided by different beta subunits.


ensembl_gene_id: ENSPTRP00000020836
symbol: POLR1A
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase subunit; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.


ensembl_gene_id: ENSPTRP00000020841
symbol: IMMT
gene_biotype: protein_coding
description:
  MICOS complex subunit MIC60; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane.


ensembl_gene_id: ENSPTRP00000020958
symbol: CIAO1
gene_biotype: protein_coding
description:
  Probable cytosolic iron-sulfur protein assembly protein CIAO1; Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. Seems to specifically modulate the transactivation activity of WT1. As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation; Belongs to the WD repeat CIA1 family.


ensembl_gene_id: ENSPTRP00000021041
symbol: REV1
gene_biotype: protein_coding
description:
  DNA repair protein REV1; Deoxycytidyl transferase involved in DNA repair. Transfers a dCMP residue from dCTP to the 3'-end of a DNA primer in a template- dependent reaction. May assist in the first step in the bypass of abasic lesions by the insertion of a nucleotide opposite the lesion. Required for normal induction of mutations by physical and chemical agents; Belongs to the DNA polymerase type-Y family.


ensembl_gene_id: ENSPTRP00000021080
symbol: SLC9A2
gene_biotype: protein_coding
description:
  Sodium/hydrogen exchanger; Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.


ensembl_gene_id: ENSPTRP00000021122
symbol: RANBP2-2
gene_biotype: protein_coding
description:
  E3 SUMO-protein ligase RanBP2; E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates. Component of the nuclear export pathway. Specific docking site for the nuclear export factor exportin-1. Sumoylates PML at 'Lys-490' which is essential for the proper assembly of PML-NB. Recruits BICD2 to the nuclear envelope and cytoplasmic stacks of nuclear pore complex known as annulate lamellae during G2 phase of cell  [...]


ensembl_gene_id: ENSPTRP00000021186
symbol: SLC20A1
gene_biotype: protein_coding
description:
  Phosphate transporter; Sodium-phosphate symporter which plays a fundamental housekeeping role in phosphate transport. Belongs to the inorganic phosphate transporter (PiT) (TC 2.A.20) family.


ensembl_gene_id: ENSPTRP00000021191
symbol: IL1B
gene_biotype: protein_coding
description:
  Multifunctional fusion protein; Potent proinflammatory cytokine. Initially discovered as the major endogenous pyrogen, induces prostaglandin synthesis, neutrophil influx and activation, T-cell activation and cytokine production, B- cell activation and antibody production, and fibroblast proliferation and collagen production; Belongs to the IL-1 family.


ensembl_gene_id: ENSPTRP00000021225
symbol: INSIG2
gene_biotype: protein_coding
description:
  Insulin-induced gene protein; Mediates feedback control of cholesterol synthesis. Belongs to the INSIG family.


ensembl_gene_id: ENSPTRP00000021239
symbol: PTPN4
gene_biotype: protein_coding
description:
  Tyrosine-protein phosphatase non-receptor type; May act at junctions between the membrane and the cytoskeleton.


ensembl_gene_id: ENSPTRP00000021305
symbol: HS6ST1
gene_biotype: protein_coding
description:
  Heparan-sulfate 6-O-sulfotransferase; 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate.


ensembl_gene_id: ENSPTRP00000021366
symbol: ACMSD
gene_biotype: protein_coding
description:
  2-amino-3-carboxymuconate-6-semialdehyde decarboxylase; Converts alpha-amino-beta-carboxymuconate-epsilon- semialdehyde (ACMS) to alpha-aminomuconate semialdehyde (AMS). Belongs to the metallo-dependent hydrolases superfamily.


ensembl_gene_id: ENSPTRP00000021407
symbol: ORC4
gene_biotype: protein_coding
description:
  Origin recognition complex subunit 4; Component of the origin recognition complex (ORC) that binds origins of replication; Belongs to the ORC4 family.


ensembl_gene_id: ENSPTRP00000021460
symbol: UPP2
gene_biotype: protein_coding
description:
  Uridine phosphorylase; Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis.


ensembl_gene_id: ENSPTRP00000021529
symbol: B3GALT1
gene_biotype: protein_coding
description:
  Beta-1,3-galactosyltransferase 1; Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins.


ensembl_gene_id: ENSPTRP00000021575
symbol: GAD1
gene_biotype: protein_coding
description:
  Glutamate decarboxylase 1; Catalyzes the production of GABA; Belongs to the group II decarboxylase family.


ensembl_gene_id: ENSPTRP00000021596
symbol: SLC25A12
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Mitochondrial carrier, Aralar), member 12; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000021597
symbol: HAT1
gene_biotype: protein_coding
description:
  Histone acetyltransferase type B catalytic subunit; Acetylates soluble but not nucleosomal histone H4 at 'Lys-5' (H4K5ac) and 'Lys-12' (H4K12ac) and, to a lesser extent, acetylates histone H2A at 'Lys-5' (H2AK5ac). Has intrinsic substrate specificity that modifies lysine in recognition sequence GXGKXG.


ensembl_gene_id: ENSPTRP00000021614
symbol: OLA1
gene_biotype: protein_coding
description:
  Obg-like ATPase 1; Hydrolyzes ATP, and can also hydrolyze GTP with lower efficiency. Has lower affinity for GTP.


ensembl_gene_id: ENSPTRP00000021646
symbol: HOXD10
gene_biotype: protein_coding
description:
  Homeobox protein Hox-D10; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Abd-B homeobox family.


ensembl_gene_id: ENSPTRP00000021662
symbol: AGPS
gene_biotype: protein_coding
description:
  Alkylglycerone-phosphate synthase; Catalyzes the exchange of an acyl for a long-chain alkyl group and the formation of the ether bond in the biosynthesis of ether phospholipids; Belongs to the FAD-binding oxidoreductase/transferase type 4 family.


ensembl_gene_id: ENSPTRP00000021717
symbol: ITGA4
gene_biotype: protein_coding
description:
  Integrin, alpha 4 (Antigen CD49D, alpha 4 subunit of VLA-4 receptor); Belongs to the integrin alpha chain family.


ensembl_gene_id: ENSPTRP00000021737
symbol: NUP35
gene_biotype: protein_coding
description:
  Nucleoporin NUP53; Functions as a component of the nuclear pore complex (NPC). Belongs to the Nup35 family.


ensembl_gene_id: ENSPTRP00000021763
symbol: SLC40A1
gene_biotype: protein_coding
description:
  Solute carrier family 40 protein; May be involved in iron transport and iron homeostasis. Belongs to the ferroportin (FP) (TC 2.A.100) family. SLC40A subfamily.


ensembl_gene_id: ENSPTRP00000021771
symbol: OSGEPL1
gene_biotype: protein_coding
description:
  Probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial; Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in mitochondrial tRNAs that read codons beginning with adenine. Probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. Involved in mitochondrial genome maintenance.


ensembl_gene_id: ENSPTRP00000021778
symbol: MSTN
gene_biotype: protein_coding
description:
  Growth/differentiation factor 8; Acts specifically as a negative regulator of skeletal muscle growth; Belongs to the TGF-beta family.


ensembl_gene_id: ENSPTRP00000021782
symbol: HIBCH
gene_biotype: protein_coding
description:
  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite; Belongs to the enoyl-CoA hydratase/isomerase family.


ensembl_gene_id: ENSPTRP00000021865
symbol: NDUFB3
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3; 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: ENSPTRP00000021899
symbol: ALS2
gene_biotype: protein_coding
description:
  Alsin; May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).


ensembl_gene_id: ENSPTRP00000022048
symbol: XRCC5
gene_biotype: protein_coding
description:
  X-ray repair cross-complementing protein 5; Single-stranded DNA-dependent ATP-dependent helicase. Belongs to the ku80 family.


ensembl_gene_id: ENSPTRP00000022066
symbol: CXCR1
gene_biotype: protein_coding
description:
  C-X-C chemokine receptor type 1; Receptor to interleukin-8, which is a powerful neutrophils chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activate a phosphatidylinositol-calcium second messenger system. This receptor binds to IL-8 with a high affinity and to MGSA (GRO) with a low affinity.


ensembl_gene_id: ENSPTRP00000022106
symbol: IHH
gene_biotype: protein_coding
description:
  Hedgehog protein; Intercellular signal essential for a variety of patterning events during development.


ensembl_gene_id: ENSPTRP00000022141
symbol: ASIC4
gene_biotype: protein_coding
description:
  Acid sensing ion channel subunit family member 4; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSPTRP00000022148
symbol: INHA
gene_biotype: protein_coding
description:
  Inhibin alpha chain; Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition; Belongs to the TGF-beta family.


ensembl_gene_id: ENSPTRP00000022265
symbol: PSMD1
gene_biotype: protein_coding
description:
  26S proteasome non-ATPase regulatory subunit 1; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the proteasome subunit S1 family.


ensembl_gene_id: ENSPTRP00000022277
symbol: PDE6D
gene_biotype: protein_coding
description:
  Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta; Promotes the release of prenylated target proteins from cellular membranes. Modulates the activity of prenylated or palmitoylated Ras family members by regulating their subcellular location. Required for normal ciliary targeting of farnesylated target proteins, such as INPP5E. Modulates the subcellular location of target proteins by acting as a GTP specific dissociation inhibitor (GDI). Increases the affinity of ARL3 for GTP by several orders of magnitude. Stabilizes ARL3-GTP by decreasing the nucleotide [...]


ensembl_gene_id: ENSPTRP00000022490
symbol: DEFB126
gene_biotype: protein_coding
description:
  Beta-defensin 126; Highly glycosylated atypical beta-defensin involved in several aspects of sperm function. Facilitates sperm transport in the female reproductive tract and contributes to sperm protection against immunodetection; both functions are probably implicating the negative surface charge provided by its O-linked oligosaccharides in the sperm glycocalyx. Involved in binding of sperm to oviductal epithelial cells to form a sperm reservoir until ovulation. Release from the sperm surface during capacitation and ovaluation by an elevation of oviductal fluid pH is unmasking other s [...]


ensembl_gene_id: ENSPTRP00000022599
symbol: ITPA
gene_biotype: protein_coding
description:
  Inosine triphosphate pyrophosphatase; Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions; Belongs to the HAM1 NTPase family.


ensembl_gene_id: ENSPTRP00000022674
symbol: PCNA
gene_biotype: protein_coding
description:
  Proliferating cell nuclear antigen; This protein is an auxiliary protein of DNA polymerase delta and is involved in the control of eukaryotic DNA replication by increasing the polymerase's processibility during elongation of the leading strand; Belongs to the PCNA family.


ensembl_gene_id: ENSPTRP00000022686
symbol: TRMT6
gene_biotype: protein_coding
description:
  tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6; Substrate-binding subunit of tRNA (adenine-N1-)- methyltransferase, which catalyzes the formation of N1-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA.


ensembl_gene_id: ENSPTRP00000022723
symbol: SNAP25
gene_biotype: protein_coding
description:
  Synaptosomal-associated protein 25; t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells; Belongs to the SNAP-25 family.


ensembl_gene_id: ENSPTRP00000022774
symbol: MGME1
gene_biotype: protein_coding
description:
  Mitochondrial genome maintenance exonuclease 1; Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA- primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair; Belongs to the MGME1 family.


ensembl_gene_id: ENSPTRP00000022787
symbol: POLR3F
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase III subunit RPC6; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs; Belongs to the eukaryotic RPC34/RPC39 RNA polymerase subunit family.


ensembl_gene_id: ENSPTRP00000022797
symbol: SLC24A3
gene_biotype: protein_coding
description:
  Solute carrier family 24 (Sodium/potassium/calcium exchanger), member 3; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSPTRP00000022823
symbol: XRN2
gene_biotype: protein_coding
description:
  5'-3' exoribonuclease; Possesses 5'->3' exoribonuclease activity. May promote termination of transcription by RNA polymerase II.


ensembl_gene_id: ENSPTRP00000022931
symbol: POFUT1
gene_biotype: protein_coding
description:
  GDP-fucose protein O-fucosyltransferase 1; Catalyzes the reaction that attaches fucose through an O- glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP- fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that ca [...]


ensembl_gene_id: ENSPTRP00000022999
symbol: ASIP
gene_biotype: protein_coding
description:
  Agouti-signaling protein; Involved in the regulation of melanogenesis. The binding of ASP to MC1R precludes alpha-MSH initiated signaling and thus blocks production of cAMP, leading to a down-regulation of eumelanogenesis (brown/black pigment) and thus increasing synthesis of pheomelanin (yellow/red pigment) (By similarity).


ensembl_gene_id: ENSPTRP00000023044
symbol: EIF6
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 6; Binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit to form the 80S initiation complex in the cytoplasm. Behaves as a stimulatory translation initiation factor downstream insulin/growth factors. Is also involved in ribosome biogenesis. Associates with pre-60S subunits in the nucleus and is involved in its nuclear export. Cytoplasmic release of TIF6 from 60S subunits and nuclear relocalization is promoted by a RACK1 (RACK1)- dependent protein kinase C activity. In tissues responsive to insulin, contro [...]


ensembl_gene_id: ENSPTRP00000023175
symbol: TOP1
gene_biotype: protein_coding
description:
  DNA topoisomerase I; Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at the specific target site 5'-[CT]CCTTp site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus r [...]


ensembl_gene_id: ENSPTRP00000023178
symbol: PLCG1
gene_biotype: protein_coding
description:
  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma; Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades.


ensembl_gene_id: ENSPTRP00000023236
symbol: KCNK15
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 15; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSPTRP00000023246
symbol: KCNS1
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel subfamily S member 1; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1 and KCNB2; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 and KCNB2. Belongs to the potassium channel family. S (TC 1.A.1.2) subfamily. Kv9.1/KCNS1 sub-subfamily.


ensembl_gene_id: ENSPTRP00000023247
symbol: WFDC12
gene_biotype: protein_coding
description:
  WAP four-disulfide core domain protein 12; Antibacterial protein. Putative acid-stable proteinase inhibitor (By similarity).


ensembl_gene_id: ENSPTRP00000023362
symbol: SLC2A10
gene_biotype: protein_coding
description:
  Solute carrier family 2 (Facilitated glucose transporter), member 10; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPTRP00000023416
symbol: RNF114
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RNF114; E3 ubiquitin-protein ligase that promotes the ubiquitination of various substrates. In turn, participates in the regulation of many biological processes including cell cycle, apoptosis, osteoclastogenesis as well as innate or adaptive immunity. Acts as negative regulator of NF-kappa-B-dependent transcription by promoting the ubiquitination and stabilization of the NF-kappa-B inhibitor TNFAIP3. May promote the ubiquitination of TRAF6 as well. Acts also as a negative regulator of T-cell activation. Inhibits cellular dsRNA responses and interferon produ [...]


ensembl_gene_id: ENSPTRP00000023439
symbol: MOCS3
gene_biotype: protein_coding
description:
  Adenylyltransferase and sulfurtransferase MOCS3; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Also essential during biosynthesis of the molybdenum cofactor. Acts by mediating the C-terminal thiocarboxylation of sulfur carriers URM1 and MOCS2A. Its N-terminus first activates URM1 and MOCS2A as acyl- adenylates (-COAMP), then the persulfide sulfur on the catalytic cysteine is transferred to URM1 and MOCS2A to form thiocarboxylation (- COSH) of their C-terminus. The reaction probably involves hydrogen sulfide [...]


ensembl_gene_id: ENSPTRP00000023535
symbol: TUBB1
gene_biotype: protein_coding
description:
  Tubulin beta chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.


ensembl_gene_id: ENSPTRP00000023661
symbol: EEF1A2
gene_biotype: protein_coding
description:
  Elongation factor 1-alpha; This protein promotes the GTP-dependent binding of aminoacyl- tRNA to the A-site of ribosomes during protein biosynthesis.


ensembl_gene_id: ENSPTRP00000023779
symbol: TMPRSS15
gene_biotype: protein_coding
description:
  Enteropeptidase; Responsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and carboxypeptidase A). It catalyzes the conversion of trypsinogen to trypsin which in turn activates other proenzymes including chymotrypsinogen, procarboxypeptidases, and proelastases.


ensembl_gene_id: ENSPTRP00000023837
symbol: SOD1
gene_biotype: protein_coding
description:
  Superoxide dismutase [Cu-Zn]; Destroys radicals which are normally produced within the cells and which are toxic to biological systems; Belongs to the Cu-Zn superoxide dismutase family.


ensembl_gene_id: ENSPTRP00000023839
symbol: HUNK
gene_biotype: protein_coding
description:
  Hormonally up-regulated neu tumor-associated kinase; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.


ensembl_gene_id: ENSPTRP00000023915
symbol: PIGP
gene_biotype: protein_coding
description:
  Phosphatidylinositol N-acetylglucosaminyltransferase subunit P; Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.


ensembl_gene_id: ENSPTRP00000023963
symbol: MX1
gene_biotype: protein_coding
description:
  Myxovirus (Influenza virus) resistance 2; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPTRP00000024002
symbol: PDE9A
gene_biotype: protein_coding
description:
  High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A; Specifically hydrolyzes the second messenger cGMP, which is a key regulator of many important physiological processes. Highly specific: compared to other members of the cyclic nucleotide phosphodiesterase family, has the highest affinity and selectivity for cGMP. Specifically regulates natriuretic-peptide-dependent cGMP signaling in heart, acting as a regulator of cardiac hypertrophy in myocytes and muscle. Does not regulate nitric oxide-dependent cGMP in heart. Additional experiments are required to confirm whether its abi [...]


ensembl_gene_id: ENSPTRP00000024006
symbol: WDR4
gene_biotype: protein_coding
description:
  tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4; Required for the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA. In the complex, it is required to stabilize and induce conformational changes of the catalytic subunit. Belongs to the WD repeat TRM82 family.


ensembl_gene_id: ENSPTRP00000024102
symbol: POFUT2
gene_biotype: protein_coding
description:
  GDP-fucose protein O-fucosyltransferase 2; Catalyzes the reaction that attaches fucose through an O- glycosidic linkage to a conserved serine or threonine residue in the consensus sequence C1-X(2,3)-S/T-C2-X(2)-G of thrombospondin type I repeats (TSRs) where C1 and C2 are the first and second cysteines of the repeat, respectively. O-fucosylates members of several protein families including the ADAMTS superfamily and the thrombosporin (TSP) and spondin families. Required for the proper secretion of ADAMTS family members such as ADAMSL1 and ADAMST13. O-fucosylation of TSRs is also requir [...]


ensembl_gene_id: ENSPTRP00000024206
symbol: SLC25A1
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Mitochondrial carrier citrate transporter), member 1; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000024231
symbol: COMT
gene_biotype: protein_coding
description:
  Catechol O-methyltransferase; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones.


ensembl_gene_id: ENSPTRP00000024244
symbol: TRMT2A
gene_biotype: protein_coding
description:
  TRM2 tRNA methyltransferase 2 homolog A; Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA M5U methyltransferase family.


ensembl_gene_id: ENSPTRP00000024409
symbol: SNRPD3
gene_biotype: protein_coding
description:
  Small nuclear ribonucleoprotein Sm D3; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. As part of the U7 snRNP it is involved in histone pre-mRNA 3'-end processing.


ensembl_gene_id: ENSPTRP00000024442
symbol: TFIP11
gene_biotype: protein_coding
description:
  Tuftelin-interacting protein 11; Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. Intron turnover seems to proceed through reactions in two lariat-intron associated complexes termed Intron Large (IL) and Intron Small (IS). In cooperation with DHX15 seems to mediate the transition of the U2, U5 and U6 snRNP- containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extrac [...]


ensembl_gene_id: ENSPTRP00000024541
symbol: PES1
gene_biotype: protein_coding
description:
  Pescadillo homolog; Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome; Belongs to the pescadillo family.


ensembl_gene_id: ENSPTRP00000024593
symbol: PISD
gene_biotype: protein_coding
description:
  Phosphatidylserine decarboxylase proenzyme, mitochondrial; Catalyzes the formation of phosphatidylethanolamine (PtdEtn) from phosphatidylserine (PtdSer). Plays a central role in phospholipid metabolism and in the interorganelle trafficking of phosphatidylserine.


ensembl_gene_id: ENSPTRP00000024600
symbol: YWHAH
gene_biotype: protein_coding
description:
  Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide; Belongs to the 14-3-3 family.


ensembl_gene_id: ENSPTRP00000024605
symbol: RTCB
gene_biotype: protein_coding
description:
  RNA-splicing ligase RtcB homolog; Catalytic subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3',5'-phosphodiester. May act as an RNA ligase with broad substrate specificity, and may function toward other RNAs.


ensembl_gene_id: ENSPTRP00000024624
symbol: HMOX1
gene_biotype: protein_coding
description:
  Heme oxygenase; Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase.


ensembl_gene_id: ENSPTRP00000024650
symbol: EIF3D
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit D; mRNA cap-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, a complex required for several steps in the initiation of protein synthesis of a specialized repertoire of mRNAs. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl- tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required  [...]


ensembl_gene_id: ENSPTRP00000024653
symbol: CACNG2
gene_biotype: protein_coding
description:
  Voltage-dependent calcium channel gamma-2 subunit; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state; Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.


ensembl_gene_id: ENSPTRP00000024676
symbol: IL2RB
gene_biotype: protein_coding
description:
  Interleukin-2 receptor subunit beta; Receptor for interleukin-2. This beta subunit is involved in receptor mediated endocytosis and transduces the mitogenic signals of IL2. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (By similarity).


ensembl_gene_id: ENSPTRP00000024757
symbol: DMC1
gene_biotype: protein_coding
description:
  Meiotic recombination protein; May participate in meiotic recombination, specifically in homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks; Belongs to the RecA family. DMC1 subfamily.


ensembl_gene_id: ENSPTRP00000024786
symbol: APOBEC3G
gene_biotype: protein_coding
description:
  DNA dC->dU-editing enzyme APOBEC-3G; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase- dependent and -independent mechanisms. Exhibits antiviral activity against vif-deficient: HIV-1 and simian immunodeficiency viruses (SIVs) and also against simian foamy virus (SFV). After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hy [...]


ensembl_gene_id: ENSPTRP00000024815
symbol: CK820_G0027578
gene_biotype: protein_coding
description:
  Cytochrome b-c1 complex subunit Rieske, mitochondrial; Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis.


ensembl_gene_id: ENSPTRP00000024831
symbol: MCHR1
gene_biotype: protein_coding
description:
  Melanin-concentrating hormone receptor 1; Receptor for melanin-concentrating hormone, coupled to both G proteins that inhibit adenylyl cyclase and G proteins that activate phosphoinositide hydrolysis.


ensembl_gene_id: ENSPTRP00000024833
symbol: SLC25A17
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Mitochondrial carrier peroxisomal membrane protein, 34kDa), member 17; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000024860
symbol: PMM1
gene_biotype: protein_coding
description:
  Phosphomannomutase; Involved in the synthesis of the GDP-mannose and dolichol- phosphate-mannose required for a number of critical mannosyl transfer reactions.


ensembl_gene_id: ENSPTRP00000024873
symbol: SEPTIN3
gene_biotype: protein_coding
description:
  SEPT3 isoform 1; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPTRP00000025112
symbol: TRNT1
gene_biotype: protein_coding
description:
  tRNA nucleotidyl transferase, CCA-adding, 1; Belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family.


ensembl_gene_id: ENSPTRP00000025136
symbol: CAV3
gene_biotype: protein_coding
description:
  Caveolin; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity; Belongs to the caveolin family.


ensembl_gene_id: ENSPTRP00000025138
symbol: OXTR
gene_biotype: protein_coding
description:
  Oxytocin receptor; Receptor for oxytocin. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system; Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.


ensembl_gene_id: ENSPTRP00000025273
symbol: LSM3
gene_biotype: protein_coding
description:
  U6 snRNA-associated Sm-like protein LSm3; Binds specifically to the 3'-terminal U-tract of U6 snRNA.


ensembl_gene_id: ENSPTRP00000025389
symbol: DYNC1LI1
gene_biotype: protein_coding
description:
  Dynein light intermediate chain; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes.


ensembl_gene_id: ENSPTRP00000025473
symbol: SLC25A38
gene_biotype: protein_coding
description:
  Mitochondrial glycine transporter; Mitochondrial glycine transporter that imports glycine into the mitochondrial matrix. Plays an important role in providing glycine for the first enzymatic step in heme biosynthesis, the condensation of glycine with succinyl-CoA to produce 5-aminolevulinate (ALA) in the miochondrial matrix. Required during erythropoiesis. Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily.


ensembl_gene_id: ENSPTRP00000025525
symbol: POMGNT2
gene_biotype: protein_coding
description:
  Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2; O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D- mannosylprotein. Involved in the biosynthesis of the phosphorylated O- mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N- acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affini [...]


ensembl_gene_id: ENSPTRP00000025599
symbol: CCR5
gene_biotype: protein_coding
description:
  C-C chemokine receptor type 5; Receptor for a number of inflammatory CC-chemokines including MIP-1-alpha, MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level. May play a role in the control of granulocytic lineage proliferation or differentiation (By similarity).


ensembl_gene_id: ENSPTRP00000025671
symbol: CAMP
gene_biotype: protein_coding
description:
  Cathelicidin antimicrobial peptide; Binds to bacterial lipopolysaccharides (LPS), has antibacterial activity; Belongs to the cathelicidin family.


ensembl_gene_id: ENSPTRP00000025726
symbol: SLC25A20
gene_biotype: protein_coding
description:
  Solute carrier family 25 (Carnitine/acylcarnitine translocase), member 20; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000025842
symbol: MAPKAPK3
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase-activated protein kinase 3; Belongs to the protein kinase superfamily.


ensembl_gene_id: ENSPTRP00000025951
symbol: RFT1
gene_biotype: protein_coding
description:
  Protein RFT1 homolog; May be involved in N-linked oligosaccharide assembly. Belongs to the RFT1 family.


ensembl_gene_id: ENSPTRP00000025952
symbol: PRKCD
gene_biotype: protein_coding
description:
  Protein kinase C delta type; Calcium-independent, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase that plays contrasting roles in cell death and cell survival by functioning as a pro-apoptotic protein during DNA damage-induced apoptosis, but acting as an anti- apoptotic protein during cytokine receptor-initiated cell death, is involved in tumor suppression; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily.


ensembl_gene_id: ENSPTRP00000025963
symbol: ACTR8
gene_biotype: protein_coding
description:
  Actin-related protein 8; Plays an important role in the functional organization of mitotic chromosomes. Exhibits low basal ATPase activity, and unable to polymerize; Belongs to the actin family. ARP8 subfamily.


ensembl_gene_id: ENSPTRP00000025986
symbol: HESX1
gene_biotype: protein_coding
description:
  Homeobox expressed in ES cells 1; Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation (By similarity).


ensembl_gene_id: ENSPTRP00000026010
symbol: PDHB
gene_biotype: protein_coding
description:
  Pyruvate dehydrogenase E1 component subunit beta; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO2.


ensembl_gene_id: ENSPTRP00000026055
symbol: EOGT
gene_biotype: protein_coding
description:
  EGF domain-specific O-linked N-acetylglucosamine transferase; Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc). Specifically glycosylates the Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains. Belongs to the glycosyltransferase 61 family.


ensembl_gene_id: ENSPTRP00000026075
symbol: EIF4E3
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 4E family member 3; Belongs to the eukaryotic initiation factor 4E family.


ensembl_gene_id: ENSPTRP00000026109
symbol: HTR1F
gene_biotype: protein_coding
description:
  5-hydroxytryptamine receptor 1F; 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: ENSPTRP00000026123
symbol: NSUN3
gene_biotype: protein_coding
description:
  NOP2/Sun domain family, member 3; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPTRP00000026139
symbol: RIOX2
gene_biotype: protein_coding
description:
  Bifunctional lysine-specific demethylase and histidyl-hydroxylase; Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase.


ensembl_gene_id: ENSPTRP00000026148
symbol: GPR15
gene_biotype: protein_coding
description:
  G-protein coupled receptor 15; Probable chemokine receptor. SIV-1 coreceptor; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000026293
symbol: GAP43
gene_biotype: protein_coding
description:
  Neuromodulin; This protein is associated with nerve growth. It is a major component of the motile 'growth cones' that form the tips of elongating axons. Plays a role in axonal and dendritic filopodia induction (By similarity).


ensembl_gene_id: ENSPTRP00000026324
symbol: NDUFB4
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPTRP00000026385
symbol: ADCY5
gene_biotype: protein_coding
description:
  Adenylate cyclase; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSPTRP00000026461
symbol: RPN1
gene_biotype: protein_coding
description:
  Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the en [...]


ensembl_gene_id: ENSPTRP00000026489
symbol: MBD4
gene_biotype: protein_coding
description:
  Methyl-CpG-binding domain protein 4; Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein.


ensembl_gene_id: ENSPTRP00000026501
symbol: TRH
gene_biotype: protein_coding
description:
  Pro-thyrotropin-releasing hormone; Functions as a regulator of the biosynthesis of TSH in the anterior pituitary gland and as a neurotransmitter/ neuromodulator in the central and peripheral nervous systems.


ensembl_gene_id: ENSPTRP00000026561
symbol: TF
gene_biotype: protein_coding
description:
  Serotransferrin; Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation (By similarity).


ensembl_gene_id: ENSPTRP00000026618
symbol: PIK3CB
gene_biotype: protein_coding
description:
  Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSPTRP00000026626
symbol: RBP2
gene_biotype: protein_coding
description:
  Retinol binding protein 2; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPTRP00000026627
symbol: RBP1
gene_biotype: protein_coding
description:
  Retinol binding protein 1; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPTRP00000026709
symbol: HPS3
gene_biotype: protein_coding
description:
  Hermansky-Pudlak syndrome 3 protein homolog; Involved in early stages of melanosome biogenesis and maturation.


ensembl_gene_id: ENSPTRP00000026732
symbol: SERP1
gene_biotype: protein_coding
description:
  Stress-associated endoplasmic reticulum protein; May interact with target proteins during translocation into the lumen of the endoplasmic reticulum. May protect unfolded target proteins against degradation and facilitate correct glycosylation. Belongs to the RAMP4 family.


ensembl_gene_id: ENSPTRP00000026808
symbol: IL12A
gene_biotype: protein_coding
description:
  Interleukin-12 subunit alpha; Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated Killer cells, and stimulate the production of IFN-gamma by resting PBMC.


ensembl_gene_id: ENSPTRP00000026876
symbol: SLC2A2
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 2; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPTRP00000026922
symbol: MFN1
gene_biotype: protein_coding
description:
  MFN1 isoform 1; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPTRP00000026991
symbol: PSMD2
gene_biotype: protein_coding
description:
  26S proteasome non-ATPase regulatory subunit 2; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the proteasome subunit S2 family.


ensembl_gene_id: ENSPTRP00000027013
symbol: EHHADH
gene_biotype: protein_coding
description:
  Enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase; Belongs to the enoyl-CoA hydratase/isomerase family.


ensembl_gene_id: ENSPTRP00000027014
symbol: MAP3K13
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase 13; Activates the JUN N-terminal pathway through activation of the MAP kinase kinase MAP2K7.


ensembl_gene_id: ENSPTRP00000027036
symbol: AHSG
gene_biotype: protein_coding
description:
  Alpha-2-HS-glycoprotein chain A; Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions (By similarity); Belongs to the fetuin family.


ensembl_gene_id: ENSPTRP00000027067
symbol: TP63
gene_biotype: protein_coding
description:
  Tumor protein 63 (p63); Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes.


ensembl_gene_id: ENSPTRP00000027375
symbol: GRPEL1
gene_biotype: protein_coding
description:
  GrpE protein homolog; Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner; Belongs to the GrpE family.


ensembl_gene_id: ENSPTRP00000027407
symbol: DEFB131A
gene_biotype: protein_coding
description:
  Beta-defensin 131A; Has antibacterial activity (Probable). Upon stimulation with lipoteichoic acid, promotes cytokines and chemokines production and secretion (By similarity); Belongs to the beta-defensin family.


ensembl_gene_id: ENSPTRP00000027474
symbol: SOD3
gene_biotype: protein_coding
description:
  Superoxide dismutase [Cu-Zn]; Destroys radicals which are normally produced within the cells and which are toxic to biological systems. Belongs to the Cu-Zn superoxide dismutase family.


ensembl_gene_id: ENSPTRP00000027478
symbol: SEPSECS
gene_biotype: protein_coding
description:
  O-phosphoseryl-tRNA(Sec) selenium transferase; Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl- tRNA(Sec) required for selenoprotein biosynthesis.


ensembl_gene_id: ENSPTRP00000027484
symbol: ANAPC4
gene_biotype: protein_coding
description:
  Anaphase-promoting complex subunit 4; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. Belongs to the APC4 family.


ensembl_gene_id: ENSPTRP00000027528
symbol: LIAS
gene_biotype: protein_coding
description:
  Lipoyl synthase, mitochondrial; Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives.


ensembl_gene_id: ENSPTRP00000027531
symbol: UGDH
gene_biotype: protein_coding
description:
  UDP-glucose 6-dehydrogenase; Involved in the biosynthesis of glycosaminoglycans; hyaluronan, chondroitin sulfate, and heparan sulfate. Belongs to the UDP-glucose/GDP-mannose dehydrogenase family.


ensembl_gene_id: ENSPTRP00000027545
symbol: NSUN7
gene_biotype: protein_coding
description:
  NOP2/Sun RNA methyltransferase family member 7; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPTRP00000027573
symbol: GABRG1
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor gamma1 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000027579
symbol: GABRA4
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor alpha4 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000027581
symbol: GABRB1
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor beta1 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000027637
symbol: KIT
gene_biotype: protein_coding
description:
  Mast/stem cell growth factor receptor; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSPTRP00000027639
symbol: KDR
gene_biotype: protein_coding
description:
  Kinase insert domain receptor; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSPTRP00000027654
symbol: PPAT
gene_biotype: protein_coding
description:
  Amidophosphoribosyltransferase; In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.


ensembl_gene_id: ENSPTRP00000027669
symbol: POLR2B
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase subunit beta; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.


ensembl_gene_id: ENSPTRP00000027726
symbol: ODAM
gene_biotype: protein_coding
description:
  Odontogenic ameloblast-associated protein; Tooth-associated epithelia protein that probably plays a role in odontogenesis, the complex process that results in the initiation and generation of the tooth. May be incorporated in the enamel matrix at the end of mineralization process. Involved in the induction of RHOA activity via interaction with ARHGEF and expression of downstream factors such as ROCK. Plays a role in attachment of the junctional epithelium to the tooth surface; Belongs to the ODAM family.


ensembl_gene_id: ENSPTRP00000027728
symbol: CSN3
gene_biotype: protein_coding
description:
  Kappa-casein; Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk; Belongs to the kappa-casein family.


ensembl_gene_id: ENSPTRP00000027765
symbol: AFP
gene_biotype: protein_coding
description:
  Alpha-fetoprotein; Binds copper, nickel, and fatty acids as well as, and bilirubin less well than, serum albumin; Belongs to the ALB/AFP/VDB family.


ensembl_gene_id: ENSPTRP00000027824
symbol: SEPTIN11
gene_biotype: protein_coding
description:
  SEPT11 isoform 6; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPTRP00000027867
symbol: ENOPH1
gene_biotype: protein_coding
description:
  Enolase-phosphatase E1; Bifunctional enzyme that catalyzes the enolization of 2,3- diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P) into the intermediate 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate (HK- MTPenyl-1-P), which is then dephosphorylated to form the acireductone 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene).


ensembl_gene_id: ENSPTRP00000027992
symbol: PDHA2
gene_biotype: protein_coding
description:
  Pyruvate dehydrogenase E1 component subunit alpha; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2).


ensembl_gene_id: ENSPTRP00000027998
symbol: METAP1
gene_biotype: protein_coding
description:
  Methionine aminopeptidase; Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met- Ala-, Cys, Gly, Pro, Ser, Thr, or Val).


ensembl_gene_id: ENSPTRP00000028003
symbol: ADH5
gene_biotype: protein_coding
description:
  S-(hydroxymethyl)glutathione dehydrogenase; Belongs to the zinc-containing alcohol dehydrogenase family. Class-III subfamily.


ensembl_gene_id: ENSPTRP00000028096
symbol: ETNPPL
gene_biotype: protein_coding
description:
  Ethanolamine-phosphate phospho-lyase; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSPTRP00000028110
symbol: RRH
gene_biotype: protein_coding
description:
  Retinal pigment epithelium-derived rhodopsin homolog; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000028112
symbol: EGF
gene_biotype: protein_coding
description:
  Pro-epidermal growth factor; EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6.


ensembl_gene_id: ENSPTRP00000028113
symbol: ELOVL6
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 6; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degre [...]


ensembl_gene_id: ENSPTRP00000028150
symbol: PRSS12
gene_biotype: protein_coding
description:
  Neurotrypsin; Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations; Belongs to the peptidase S1 family.


ensembl_gene_id: ENSPTRP00000028163
symbol: FABP2
gene_biotype: protein_coding
description:
  Fatty acid binding protein 2; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPTRP00000028177
symbol: ANXA5
gene_biotype: protein_coding
description:
  Annexin A5; 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.


ensembl_gene_id: ENSPTRP00000028183
symbol: BBS7
gene_biotype: protein_coding
description:
  Bardet-Biedl syndrome 7 protein homolog; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function.


ensembl_gene_id: ENSPTRP00000028193
symbol: IL2
gene_biotype: protein_coding
description:
  Interleukin-2; Produced by T-cells in response to antigenic or mitogenic stimulation, this protein is required for T-cell proliferation and other activities crucial to regulation of the immune response. Belongs to the IL-2 family.


ensembl_gene_id: ENSPTRP00000028288
symbol: GYPA
gene_biotype: protein_coding
description:
  Glycophorin-A; Glycophorin A is the major intrinsic membrane protein of the erythrocyte. Appears to be important for the function of SLC4A1 and is required for high activity of SLC4A1. May be involved in translocation of SLC4A1 to the plasma membrane (By similarity).


ensembl_gene_id: ENSPTRP00000028315
symbol: PRMT9
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase 10 (Putative); Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSPTRP00000028352
symbol: GATB
gene_biotype: protein_coding
description:
  Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial; Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). Belongs to the GatB/GatE family. GatB subfamily.


ensembl_gene_id: ENSPTRP00000028379
symbol: TLR2
gene_biotype: protein_coding
description:
  Toll-like receptor 2; Cooperates with LY96 to mediate the innate immune response to bacterial lipoproteins and other microbial cell wall components. Cooperates with TLR1 or TLR6 to mediate the innate immune response to bacterial lipoproteins or lipopeptides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (By similarity). May also promote apoptosis in response to lipoproteins. Forms activation clusters composed of several receptors depending on the ligand, these clusters trigger signaling from the cell surface and subsequentl [...]


ensembl_gene_id: ENSPTRP00000028393
symbol: NPY2R
gene_biotype: protein_coding
description:
  Neuropeptide Y receptor type 2; Receptor for neuropeptide Y and peptide YY; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000028399
symbol: GUCY1A1
gene_biotype: protein_coding
description:
  Guanylate cyclase 1 soluble subunit alpha 1; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.


ensembl_gene_id: ENSPTRP00000028402
symbol: ASIC5
gene_biotype: protein_coding
description:
  Acid sensing ion channel subunit family member 5; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSPTRP00000028403
symbol: TDO2
gene_biotype: protein_coding
description:
  Tryptophan 2,3-dioxygenase; Heme-dependent dioxygenase that catalyzes the oxidative cleavage of the L-tryptophan (L-Trp) pyrrole ring and converts L- tryptophan to N-formyl-L-kynurenine. Catalyzes the oxidative cleavage of the indole moiety.


ensembl_gene_id: ENSPTRP00000028493
symbol: HPGD
gene_biotype: protein_coding
description:
  15-hydroxyprostaglandin dehydrogenase; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000028637
symbol: TERT-2
gene_biotype: protein_coding
description:
  Telomerase reverse transcriptase; Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nuc [...]


ensembl_gene_id: ENSPTRP00000028675
symbol: MED10
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 10; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPTRP00000028677
symbol: SRD5A1
gene_biotype: protein_coding
description:
  3-oxo-5-alpha-steroid 4-dehydrogenase; Converts testosterone into 5-alpha-dihydrotestosterone and progesterone or corticosterone into their corresponding 5-alpha-3- oxosteroids. It plays a central role in sexual differentiation and androgen physiology.


ensembl_gene_id: ENSPTRP00000028692
symbol: TAS2R1
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 1; 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: ENSPTRP00000028785
symbol: AGXT2
gene_biotype: protein_coding
description:
  Alanine--glyoxylate aminotransferase 2; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSPTRP00000028805
symbol: NADK2
gene_biotype: protein_coding
description:
  NAD kinase 2, mitochondrial; Mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+). Can use both ATP or inorganic polyphosphate as the phosphoryl donor.


ensembl_gene_id: ENSPTRP00000028838
symbol: PTGER4
gene_biotype: protein_coding
description:
  Prostaglandin E2 receptor EP4 subtype; Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. Has a relaxing effect on smooth muscle. May play an important role in regulating renal hemodynamics, intestinal epithelial transport, adrenal aldosterone secretion, and uterine function (By similarity). Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000028843
symbol: C6
gene_biotype: protein_coding
description:
  Complement component C6; Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells; Belongs to the complement C6/C7/C8/C9 family.


ensembl_gene_id: ENSPTRP00000028885
symbol: PELO
gene_biotype: protein_coding
description:
  Protein pelota homolog; May function in recognizing stalled ribosomes and triggering endonucleolytic cleavage of the mRNA, a mechanism to release non- functional ribosomes and degrade damaged mRNAs.


ensembl_gene_id: ENSPTRP00000028888
symbol: MOCS2
gene_biotype: protein_coding
description:
  Molybdopterin synthase catalytic subunit; Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group; Belongs to the MoaE family. MOCS2B subfamily.


ensembl_gene_id: ENSPTRP00000028892
symbol: NDUFS4
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPTRP00000028895
symbol: HSPB3
gene_biotype: protein_coding
description:
  Heat shock protein family B (small) member 3; Belongs to the small heat shock protein (HSP20) family.


ensembl_gene_id: ENSPTRP00000028907
symbol: DHX29
gene_biotype: protein_coding
description:
  ATP-dependent RNA helicase DHX29; ATP-binding RNA helicase involved in translation initiation. Part of the 43S pre-initiation complex that is required for efficient initiation on mRNAs of higher eukaryotes with structured 5'-UTRs by promoting efficient NTPase-dependent 48S complex formation. Specifically binds to the 40S ribosome near the mRNA entrance. Does not possess a processive helicase activity; Belongs to the DEAD box helicase family. DEAH subfamily.


ensembl_gene_id: ENSPTRP00000028948
symbol: ELOVL7
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 7; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18:3(n-3) acyl-CoAs and C18:3(n-6)-CoAs. Also active toward C20:4-, C18:0-, C18:1-, C18:2- and C16:0-CoAs, and weakly toward C20:0-CoA. Little or no activity toward C22:0-, C24:0 [...]


ensembl_gene_id: ENSPTRP00000028964
symbol: HTR1A
gene_biotype: protein_coding
description:
  5-hydroxytryptamine receptor 1A; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs 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. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Signaling inhibits adenylate cyclase activity and activates a phosphatidylinositol-calcium second  [...]


ensembl_gene_id: ENSPTRP00000029027
symbol: AK6
gene_biotype: protein_coding
description:
  Adenylate kinase isoenzyme 6; Broad-specificity nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. May have a role in nuclear energy homeostasis. Has also ATPase activity. May be involved in regulation of Cajal body (CB) formation; Belongs to the adenylate kinase family. AK6 subfamily.


ensembl_gene_id: ENSPTRP00000029096
symbol: GFM2
gene_biotype: protein_coding
description:
  Ribosome-releasing factor 2, mitochondrial; Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis. Acts in collaboration with MRRF. GTP hydrolysis follows the ribosome disassembly and probably occurs on the ribosome large subunit. Not involved in the GTP-dependent ribosomal translocation step during translation elongation; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.


ensembl_gene_id: ENSPTRP00000029118
symbol: F2RL2
gene_biotype: protein_coding
description:
  Coagulation factor II (Thrombin) receptor-like 2; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000029121
symbol: CRHBP
gene_biotype: protein_coding
description:
  Corticotropin-releasing factor-binding protein; Binds CRF and inactivates it. May prevent inappropriate pituitary-adrenal stimulation in pregnancy. Belongs to the CRF-binding protein family.


ensembl_gene_id: ENSPTRP00000029373
symbol: FTMT
gene_biotype: protein_coding
description:
  Ferritin; Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation.


ensembl_gene_id: ENSPTRP00000029447
symbol: IL3
gene_biotype: protein_coding
description:
  Interleukin-3; Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages.


ensembl_gene_id: ENSPTRP00000029464
symbol: IL4
gene_biotype: protein_coding
description:
  Interleukin-4; Participates in at least several B-cell activation processes as well as of other cell types. It is a costimulator of DNA-synthesis. It induces the expression of class II MHC molecules on resting B-cells. It enhances both secretion and cell surface expression of IgE and IgG1. It also regulates the expression of the low affinity Fc receptor for IgE (CD23) on both lymphocytes and monocytes. Positively regulates IL31RA expression in macrophages. Stimulates autophagy in dendritic cells by interfering with mTORC1 signaling and through the induction of RUFY4.


ensembl_gene_id: ENSPTRP00000029505
symbol: CAMLG
gene_biotype: protein_coding
description:
  Calcium signal-modulating cyclophilin ligand; Likely involved in the mobilization of calcium as a result of the TCR/CD3 complex interaction. Binds to cyclophilin B.


ensembl_gene_id: ENSPTRP00000029531
symbol: TRPC7
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily C member 7; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPTRP00000029626
symbol: PCDHA2
gene_biotype: protein_coding
description:
  Protocadherin alpha-C2; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.


ensembl_gene_id: ENSPTRP00000029631
symbol: PCDHB1
gene_biotype: protein_coding
description:
  Protocadherin beta-1; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.


ensembl_gene_id: ENSPTRP00000029634
symbol: PCDHB5
gene_biotype: protein_coding
description:
  Protocadherin beta-5; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.


ensembl_gene_id: ENSPTRP00000029635
symbol: PCDHB6
gene_biotype: protein_coding
description:
  Protocadherin beta-6; Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain.


ensembl_gene_id: ENSPTRP00000029637
symbol: PCDHB16
gene_biotype: protein_coding
description:
  Protocadherin beta-13; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.


ensembl_gene_id: ENSPTRP00000029638
symbol: PCDHB14
gene_biotype: protein_coding
description:
  Protocadherin beta-14; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.


ensembl_gene_id: ENSPTRP00000029640
symbol: PCDHB15
gene_biotype: protein_coding
description:
  Protocadherin beta-15; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.


ensembl_gene_id: ENSPTRP00000029648
symbol: PCDHGA4-2
gene_biotype: protein_coding
description:
  Protocadherin gamma-C5; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.


ensembl_gene_id: ENSPTRP00000029652
symbol: HDAC3
gene_biotype: protein_coding
description:
  Histone deacetylase 3; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4), and some other non-histone substrates. Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.


ensembl_gene_id: ENSPTRP00000029676
symbol: FGF1
gene_biotype: protein_coding
description:
  Multifunctional fusion protein; Plays an important role in the regulation of cell survival, cell division, angiogenesis, cell differentiation and cell migration. Functions as potent mitogen in vitro. Acts as a ligand for FGFR1 and integrins. Binds to FGFR1 in the presence of heparin leading to FGFR1 dimerization and activation via sequential autophosphorylation on tyrosine residues which act as docking sites for interacting proteins, leading to the activation of several signaling cascades. Binds to integrins. Its binding to integrins and subsequent ternary complex formation with integr [...]


ensembl_gene_id: ENSPTRP00000029827
symbol: MED7
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 7; 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.


ensembl_gene_id: ENSPTRP00000029849
symbol: THG1L
gene_biotype: protein_coding
description:
  tRNA(His) guanylyltransferase; Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage.


ensembl_gene_id: ENSPTRP00000029869
symbol: IL12B
gene_biotype: protein_coding
description:
  Interleukin-12 subunit beta; Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC.


ensembl_gene_id: ENSPTRP00000029883
symbol: PTTG1
gene_biotype: protein_coding
description:
  Securin; Regulatory protein, which plays a central role in chromosome stability, in the p53/TP53 pathway, and DNA repair. Probably acts by blocking the action of key proteins. During the mitosis, it blocks Separase/ESPL1 function, preventing the proteolysis of the cohesin complex and the subsequent segregation of the chromosomes. At the onset of anaphase, it is ubiquitinated, conducting to its destruction and to the liberation of ESPL1. Its function is however not limited to a blocking activity, since it is required to activate ESPL1. Negatively regulates the transcriptional activity a [...]


ensembl_gene_id: ENSPTRP00000029903
symbol: MAT2B
gene_biotype: protein_coding
description:
  Methionine adenosyltransferase 2 subunit beta; Regulatory subunit of S-adenosylmethionine synthetase 2, an enzyme that catalyzes the formation of S-adenosylmethionine from methionine and ATP. Regulates MAT2A catalytic activity by changing its kinetic properties, increasing its affinity for L-methionine.


ensembl_gene_id: ENSPTRP00000029917
symbol: SPDL1
gene_biotype: protein_coding
description:
  Protein Spindly; Required for the localization of dynein and dynactin to the mitotic kintochore. Dynein is believed to control the initial lateral interaction between the kinetochore and spindle microtubules and to facilitate the subsequent formation of end-on kinetochore-microtubule attachments mediated by the NDC80 complex. Also required for correct spindle orientation. Does not appear to be required for the removal of spindle assembly checkpoint (SAC) proteins from the kinetochore upon bipolar spindle attachment.


ensembl_gene_id: ENSPTRP00000029926
symbol: GABRP
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor pi subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000029971
symbol: MSX2
gene_biotype: protein_coding
description:
  Homeobox protein MSX-2; Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter (By similarity); Belongs to the Msh homeobox family.


ensembl_gene_id: ENSPTRP00000030163
symbol: EXOC2
gene_biotype: protein_coding
description:
  Exocyst complex component 2; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. Belongs to the SEC5 family.


ensembl_gene_id: ENSPTRP00000030184
symbol: TUBB4B
gene_biotype: protein_coding
description:
  Tubulin beta chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. Belongs to the tubulin family.


ensembl_gene_id: ENSPTRP00000030220
symbol: RIOK1
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase RIO1; Belongs to the protein kinase superfamily. RIO-type Ser/Thr kinase family.


ensembl_gene_id: ENSPTRP00000030365
symbol: CMAH
gene_biotype: protein_coding
description:
  Cytidine monophosphate-N-acetylneuraminic acid hydroxylase; Sialic acids are components of carbohydrate chains of glycoconjugates and are involved in cell-cell recognition and cell- pathogen interactions. Catalyzes the conversion of CMP-N- acetylneuraminic acid (CMP-Neu5Ac) into its hydroxylated derivative CMP-N-glycolylneuraminic acid (CMP-Neu5Gc), a sialic acid abundantly expressed at the surface of many cells.


ensembl_gene_id: ENSPTRP00000030461
symbol: ZKSCAN8
gene_biotype: protein_coding
description:
  Zinc finger protein with KRAB and SCAN domains 8; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPTRP00000030553
symbol: ZNRD1
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase I subunit RPA12; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors.


ensembl_gene_id: ENSPTRP00000030585
symbol: ABCF1
gene_biotype: protein_coding
description:
  ATP-binding cassette sub-family F member 1; Required for efficient Cap- and IRES-mediated mRNA translation initiation. Not involved in the ribosome biogenesis (By similarity); Belongs to the ABC transporter superfamily. ABCF family. EF3 subfamily.


ensembl_gene_id: ENSPTRP00000030588
symbol: PPP1R10
gene_biotype: protein_coding
description:
  Serine/threonine-protein phosphatase 1 regulatory subunit 10; Scaffold protein which mediates the formation of the PTW/PP1 phosphatase complex by providing a binding platform to each component of the complex. The PTW/PP1 phosphatase complex plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. Mediates interaction of WDR82 and PPP1CA. Inhibitor of PPP1CA and PPP1CC phosphatase activities. Has inhibitory activity on PPP1CA only when phosphorylated. Binds to mRNA, single-stranded DNA (ssDNA), poly(A) and poly(G)  [...]


ensembl_gene_id: ENSPTRP00000030589
symbol: MRPS18B
gene_biotype: protein_coding
description:
  28S ribosomal protein S18b, mitochondrial; Belongs to the bacterial ribosomal protein bS18 family. Mitochondrion-specific ribosomal protein mS40 subfamily.


ensembl_gene_id: ENSPTRP00000030594
symbol: ATAT1
gene_biotype: protein_coding
description:
  Alpha-tubulin N-acetyltransferase 1; Specifically acetylates 'Lys-40' in alpha-tubulin on the lumenal side of microtubules. Promotes microtubule destabilization and accelerates microtubule dynamics; this activity may be independent of acetylation activity. Acetylates alpha-tubulin with a slow enzymatic rate, due to a catalytic site that is not optimized for acetyl transfer. Enters the microtubule through each end and diffuses quickly throughout the lumen of microtubules. Acetylates only long/old microtubules because of its slow acetylation rate since it does not have time to act on dyn [...]


ensembl_gene_id: ENSPTRP00000030607
symbol: FLOT1
gene_biotype: protein_coding
description:
  Flotillin-1; May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles.


ensembl_gene_id: ENSPTRP00000030616
symbol: GTF2H4
gene_biotype: protein_coding
description:
  General transcription factor IIH subunit 4; Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFII [...]


ensembl_gene_id: ENSPTRP00000030631
symbol: POU5F1
gene_biotype: protein_coding
description:
  POU domain, class 5, transcription factor 1; Transcription factor that binds to the octamer motif (5'- ATTTGCAT-3'). Forms a trimeric complex with SOX2 or SOX15 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency (By similarity).


ensembl_gene_id: ENSPTRP00000030651
symbol: LTA
gene_biotype: protein_coding
description:
  Lymphotoxin-alpha; Cytokine that in its homotrimeric form binds to TNFRSF1A/TNFR1, TNFRSF1B/TNFBR and TNFRSF14/HVEM (By similarity). In its heterotrimeric form with LTB binds to TNFRSF3/LTBR. Lymphotoxin is produced by lymphocytes and is cytotoxic for a wide range of tumor cells in vitro and in vivo (By similarity).


ensembl_gene_id: ENSPTRP00000030663
symbol: NCR3
gene_biotype: protein_coding
description:
  Natural cytotoxicity triggering receptor 3; Cell membrane receptor of natural killer/NK cells that is activated by binding of extracellular ligands including BAG6 and NCR3LG1. Stimulates NK cells cytotoxicity toward neighboring cells producing these ligands. It controls, for instance, NK cells cytotoxicity against tumor cells. Engagement of NCR3 by BAG6 also promotes myeloid dendritic cells (DC) maturation, both through killing DCs that did not acquire a mature phenotype, and inducing the release by NK cells of TNFA and IFNG that promote DC maturation.


ensembl_gene_id: ENSPTRP00000030701
symbol: LSM2
gene_biotype: protein_coding
description:
  U6 snRNA-associated Sm-like protein LSm2; Binds specifically to the 3'-terminal U-tract of U6 snRNA.


ensembl_gene_id: ENSPTRP00000030772
symbol: PATR-DOB
gene_biotype: protein_coding
description:
  Patr class II histocompatibility antigen, DO beta chain; Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B- cells. Modifies peptide exchange activity of HLA-DM.


ensembl_gene_id: ENSPTRP00000030865
symbol: SNRPC
gene_biotype: protein_coding
description:
  U1 small nuclear ribonucleoprotein C; Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. SNRPC/U1-C is directly involved in initial 5' splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5' splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA. Stimulates commitment or early (E) complex formation by stabilizing the base pairing of the 5' end of the U1 snRNA and the 5' splice-site region. Belongs to the U1 [...]


ensembl_gene_id: ENSPTRP00000030915
symbol: MAPK14
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase 14; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK14 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. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstream kinases which are a [...]


ensembl_gene_id: ENSPTRP00000030947
symbol: PIM1
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase; Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PIM subfamily.


ensembl_gene_id: ENSPTRP00000030963
symbol: GLO1
gene_biotype: protein_coding
description:
  Lactoylglutathione lyase; Catalyzes the conversion of hemimercaptal, formed from methylglyoxal and glutathione, to S-lactoylglutathione.


ensembl_gene_id: ENSPTRP00000030976
symbol: KCNK16
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 16; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSPTRP00000031034
symbol: MED20
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 20; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSPTRP00000031143
symbol: AARS2
gene_biotype: protein_coding
description:
  Alanyl-tRNA synthetase 2, mitochondrial; Catalyzes the attachment of alanine to tRNA(Ala) in a two- step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain. Belongs to the class-II aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSPTRP00000031205
symbol: PGK1
gene_biotype: protein_coding
description:
  Phosphoglycerate kinase 1; Catalyzes one of the two ATP producing reactions in the glycolytic pathway via the reversible conversion of 1,3- diphosphoglycerate to 3-phosphoglycerate. In addition to its role as a glycolytic enzyme, it seems that PGK-1 acts as a polymerase alpha cofactor protein (primer recognition protein). May play a role in sperm motility.


ensembl_gene_id: ENSPTRP00000031329
symbol: B3GAT2
gene_biotype: protein_coding
description:
  Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase; Belongs to the glycosyltransferase 43 family.


ensembl_gene_id: ENSPTRP00000031384
symbol: HTR1B
gene_biotype: protein_coding
description:
  5-hydroxytryptamine receptor 1B; 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. Arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Regulates the release of 5-hydroxytryptamine, dopami [...]


ensembl_gene_id: ENSPTRP00000031409
symbol: PGM3
gene_biotype: protein_coding
description:
  Phosphoacetylglucosamine mutase; Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O- glycosylation; Belongs to the phosphohexose mutase family.


ensembl_gene_id: ENSPTRP00000031457
symbol: RNGTT
gene_biotype: protein_coding
description:
  Polynucleotide 5'-triphosphatase; Bifunctional mRNA-capping enzyme exhibiting RNA 5'- triphosphatase activity in the N-terminal part and mRNA guanylyltransferase activity in the C-terminal part. Catalyzes the first two steps of cap formation: by removing the gamma-phosphate from the 5'-triphosphate end of nascent mRNA to yield a diphosphate end, and by transferring the gmp moiety of GTP to the 5'-diphosphate terminus.


ensembl_gene_id: ENSPTRP00000031461
symbol: GABRR1
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor rho1 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000031469
symbol: MDN1
gene_biotype: protein_coding
description:
  Midasin; Nuclear chaperone required for maturation and nuclear export of pre-60S ribosome subunits; Belongs to the midasin family.


ensembl_gene_id: ENSPTRP00000031496
symbol: COQ3
gene_biotype: protein_coding
description:
  Ubiquinone biosynthesis O-methyltransferase, mitochondrial; O-methyltransferase that catalyzes the 2 O-methylation steps in the ubiquinone biosynthetic pathway; Belongs to the class I-like SAM-binding methyltransferase superfamily. UbiG/COQ3 family.


ensembl_gene_id: ENSPTRP00000031534
symbol: QRSL1
gene_biotype: protein_coding
description:
  Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial; Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). Belongs to the amidase family. GatA subfamily.


ensembl_gene_id: ENSPTRP00000031768
symbol: TAAR5
gene_biotype: protein_coding
description:
  Trace amine-associated receptor 5; Olfactory receptor specific for trimethylamine, a trace amine. Also activated at lower level by dimethylethylamine. Trimethylamine is a bacterial metabolite found in some animal odors, and is a repulsive odor associated with bad breath and spoiled food. This receptor is probably mediated by the G(s)-class of G-proteins which activate adenylate cyclase (By similarity).


ensembl_gene_id: ENSPTRP00000031769
symbol: TAAR1
gene_biotype: protein_coding
description:
  Trace amine-associated receptor 1; Receptor for trace amines, including beta-phenylethylamine (b-PEA), p-tyramine (p-TYR), octopamine and tryptamine, with highest affinity for b-PEA and p-TYR. Unresponsive to classical biogenic amines, such as epinephrine and histamine and only partially activated by dopamine and serotonin. 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 spe [...]


ensembl_gene_id: ENSPTRP00000031789
symbol: SLC2A12
gene_biotype: protein_coding
description:
  Solute carrier family 2 (Facilitated glucose transporter), member 12; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPTRP00000031865
symbol: FUCA2
gene_biotype: protein_coding
description:
  Alpha-L-fucosidase; Alpha-L-fucosidase is responsible for hydrolyzing the alpha- 1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.


ensembl_gene_id: ENSPTRP00000031899
symbol: PPIL4
gene_biotype: protein_coding
description:
  Peptidyl-prolyl cis-trans isomerase; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.


ensembl_gene_id: ENSPTRP00000031901
symbol: KATNA1
gene_biotype: protein_coding
description:
  Katanin p60 ATPase-containing subunit A1; Catalytic subunit of a complex which severs microtubules in an ATP-dependent manner. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal p [...]


ensembl_gene_id: ENSPTRP00000031932
symbol: ESR1
gene_biotype: protein_coding
description:
  Estrogen receptor; The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues.


ensembl_gene_id: ENSPTRP00000032051
symbol: PLG
gene_biotype: protein_coding
description:
  Plasminogen; Plasmin dissolves the fibrin of blood clots and acts as a proteolytic factor in a variety of other processes including embryonic development, tissue remodeling, tumor invasion, and inflammation. In ovulation, weakens the walls of the Graafian follicle. It activates the urokinase-type plasminogen activator, collagenases and several complement zymogens, such as C1 and C5. Cleavage of fibronectin and laminin leads to cell detachment and apoptosis. Also cleaves fibrin, thrombospondin and von Willebrand factor. Its role in tissue remodeling and tumor invasion may be modulated b [...]


ensembl_gene_id: ENSPTRP00000032068
symbol: PRKN
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase parkin; Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins; Belongs to the RBR family. Parkin subfamily.


ensembl_gene_id: ENSPTRP00000032336
symbol: C1GALT1
gene_biotype: protein_coding
description:
  Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1; Glycosyltransferase that generates the core 1 O-glycan Gal- beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins; Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.


ensembl_gene_id: ENSPTRP00000032465
symbol: CYCS
gene_biotype: protein_coding
description:
  Cytochrome c; Electron carrier protein. The oxidized form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Cytochrome c then transfers this electron to the cytochrome oxidase complex, the final protein carrier in the mitochondrial electron-transport chain (By similarity).


ensembl_gene_id: ENSPTRP00000032500
symbol: HOXA7
gene_biotype: protein_coding
description:
  Homeobox protein Hox-A7; 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.


ensembl_gene_id: ENSPTRP00000032568
symbol: LSM5
gene_biotype: protein_coding
description:
  U6 snRNA-associated Sm-like protein LSm5; Plays a role in U6 snRNP assembly and function. Binds to the 3' end of U6 snRNA.


ensembl_gene_id: ENSPTRP00000032597
symbol: SEPTIN7
gene_biotype: protein_coding
description:
  Septin-7; Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role in ciliogenesis and collective cell movements. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (By similarity). Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-li [...]


ensembl_gene_id: ENSPTRP00000032656
symbol: GLI3
gene_biotype: protein_coding
description:
  Transcriptional repressor GLI3R; Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in re [...]


ensembl_gene_id: ENSPTRP00000032741
symbol: ADCY1
gene_biotype: protein_coding
description:
  Adenylate cyclase type 1; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSPTRP00000032891
symbol: TPST1
gene_biotype: protein_coding
description:
  Protein-tyrosine sulfotransferase; Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3'-phosphoadenylyl sulfate (PAPS) as cosubstrate; Belongs to the protein sulfotransferase family.


ensembl_gene_id: ENSPTRP00000032916
symbol: GALNT17
gene_biotype: protein_coding
description:
  Polypeptide N-acetylgalactosaminyltransferase 17; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.


ensembl_gene_id: ENSPTRP00000032925
symbol: NSUN5
gene_biotype: protein_coding
description:
  NOP2/Sun RNA methyltransferase 5; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPTRP00000033034
symbol: POR-2
gene_biotype: protein_coding
description:
  NADPH--cytochrome P450 reductase; This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5; In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.


ensembl_gene_id: ENSPTRP00000033044
symbol: HSPB1
gene_biotype: protein_coding
description:
  Heat shock protein family B (small) member 1; Belongs to the small heat shock protein (HSP20) family.


ensembl_gene_id: ENSPTRP00000033045
symbol: YWHAG
gene_biotype: protein_coding
description:
  Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide; Belongs to the 14-3-3 family.


ensembl_gene_id: ENSPTRP00000033071
symbol: PTPN12
gene_biotype: protein_coding
description:
  Tyrosine-protein phosphatase non-receptor type 12; Dephosphorylates a range of proteins, and thereby regulates cellular signaling cascades.


ensembl_gene_id: ENSPTRP00000033227
symbol: SLC25A13
gene_biotype: protein_coding
description:
  Solute carrier family 25, member 13 (Citrin); Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSPTRP00000033275
symbol: ARPC1A
gene_biotype: protein_coding
description:
  Actin-related protein 2/3 complex subunit; 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: ENSPTRP00000033288
symbol: ZKSCAN5
gene_biotype: protein_coding
description:
  Zinc finger protein with KRAB and SCAN domains 5; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPTRP00000033323
symbol: MCM7
gene_biotype: protein_coding
description:
  DNA replication licensing factor MCM7; Acts as component of the mcm2-7 complex (mcm complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the mcm2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...]


ensembl_gene_id: ENSPTRP00000033389
symbol: POP7
gene_biotype: protein_coding
description:
  Ribonuclease P protein subunit p20; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences; Belongs to the histone-like Alba family.


ensembl_gene_id: ENSPTRP00000033390
symbol: EPO
gene_biotype: protein_coding
description:
  Erythropoietin; Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass. Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3. Belongs to the EPO/TPO family.


ensembl_gene_id: ENSPTRP00000033429
symbol: FIS1
gene_biotype: protein_coding
description:
  Mitochondrial fission 1 protein; Involved in the fragmentation of the mitochondrial network and its perinuclear clustering.


ensembl_gene_id: ENSPTRP00000033526
symbol: DUS4L
gene_biotype: protein_coding
description:
  tRNA-dihydrouridine synthase; Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs; Belongs to the dus family.


ensembl_gene_id: ENSPTRP00000033528
symbol: SLC26A4
gene_biotype: protein_coding
description:
  Pendrin; Sodium-independent transporter of chloride and iodide. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSPTRP00000033587
symbol: CAV1
gene_biotype: protein_coding
description:
  Caveolin-1; May act as a scaffolding protein within caveolar membranes. Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae (By similarity). Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependen [...]


ensembl_gene_id: ENSPTRP00000033593
symbol: WNT2
gene_biotype: protein_coding
description:
  Protein Wnt-2; Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (By similarity). Functions as upstream regulator of FGF10 expression. Plays an important role in embryonic lung development. May contribute to embryonic brain development by regulating the proliferation of dopaminergic precursors and neurons (By similarity).


ensembl_gene_id: ENSPTRP00000033595
symbol: ASZ1
gene_biotype: protein_coding
description:
  Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1; Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with pi-bodies suggests a participation in the primary piRNAs metabolic process. Required prior to the p [...]


ensembl_gene_id: ENSPTRP00000033597
symbol: CFTR
gene_biotype: protein_coding
description:
  Cystic fibrosis transmembrane conductance regulator; Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane (By similarity). Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelia [...]


ensembl_gene_id: ENSPTRP00000033625
symbol: TAS2R16
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 16; 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); Belongs to the G-protein coupled receptor T2R family.


ensembl_gene_id: ENSPTRP00000033678
symbol: OPN1SW
gene_biotype: protein_coding
description:
  Short-wave-sensitive opsin 1; Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal (By similarity). Required for the maintenance of cone outer segment organization in the ventral retina, but not essential for the maintenance of functioning cone photoreceptors (By similarity). Involved in ensuring correct abundance and localization of retinal membrane proteins (By similarity). May increase spectral sensitivity in dim light (By similarity).


ensembl_gene_id: ENSPTRP00000033748
symbol: COPG2
gene_biotype: protein_coding
description:
  Coatomer subunit gamma; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins.


ensembl_gene_id: ENSPTRP00000033781
symbol: BPGM
gene_biotype: protein_coding
description:
  Phosphoglycerate mutase; Belongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily.


ensembl_gene_id: ENSPTRP00000033870
symbol: NDUFB2
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, 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: ENSPTRP00000033882
symbol: TAS2R5
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 5; 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: ENSPTRP00000033908
symbol: EPHB6
gene_biotype: protein_coding
description:
  Ephrin type-B receptor 6; Kinase-defective receptor for members of the ephrin-B family. Binds to ephrin-B1 and ephrin-B2. Modulates cell adhesion and migration by exerting both positive and negative effects upon stimulation with ephrin-B2. Inhibits JNK activation, T-cell receptor-induced IL-2 secretion and CD25 expression upon stimulation with ephrin-B2 (By similarity).


ensembl_gene_id: ENSPTRP00000033910
symbol: TRPV5-2
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily V member 5; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPTRP00000033935
symbol: TAS2R60
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 60; 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: ENSPTRP00000034184
symbol: DEFB1
gene_biotype: protein_coding
description:
  Beta-defensin 1; Has bactericidal activity. May act as a ligand for C-C chemokine receptor CCR6. Positively regulates the sperm motility and bactericidal activity in a CCR6-dependent manner. Binds to CCR6 and triggers Ca2+ mobilization in the sperm which is important for its motility.


ensembl_gene_id: ENSPTRP00000034186
symbol: DEFA4
gene_biotype: protein_coding
description:
  Neutrophil defensin 4; Has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positive bacteria and fungi. Inhibits corticotropin (ACTH)-stimulated corticosterone production (By similarity).


ensembl_gene_id: ENSPTRP00000034200
symbol: DEFB103A
gene_biotype: protein_coding
description:
  Beta-defensin 103A; Exhibits antimicrobial activity against Gram-positive and Gram-negative bacteria; Belongs to the beta-defensin family.


ensembl_gene_id: ENSPTRP00000034297
symbol: NAT2
gene_biotype: protein_coding
description:
  N-acetyltransferase 2 (Arylamine N-acetyltransferase); Belongs to the arylamine N-acetyltransferase family.


ensembl_gene_id: ENSPTRP00000034315
symbol: LPL
gene_biotype: protein_coding
description:
  Lipoprotein lipase; Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilization and storage. Mediates margination of triglyceride-rich lipoprotein particles in capillaries. Recruited to its site of action on the luminal surface of vascular endothelium by binding to GPIHBP1 and cell surface heparan sulfate proteoglycans.


ensembl_gene_id: ENSPTRP00000034319
symbol: GFRA2
gene_biotype: protein_coding
description:
  GDNF family receptor alpha-2; Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor.


ensembl_gene_id: ENSPTRP00000034332
symbol: NUDT18
gene_biotype: protein_coding
description:
  Nudix (Nucleoside diphosphate linked moiety X)-type motif 18; Belongs to the Nudix hydrolase family.


ensembl_gene_id: ENSPTRP00000034416
symbol: PTK2B
gene_biotype: protein_coding
description:
  PTK2B protein tyrosine kinase 2 beta; Belongs to the protein kinase superfamily. Tyr protein kinase family.


ensembl_gene_id: ENSPTRP00000034420
symbol: CHRNA2
gene_biotype: protein_coding
description:
  Neuronal acetylcholine receptor subunit alpha-2; 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.


ensembl_gene_id: ENSPTRP00000034423
symbol: CLU
gene_biotype: protein_coding
description:
  Clusterin; Functions as extracellular chaperone that prevents aggregation of non native proteins. Prevents stress-induced aggregation of blood plasma proteins.


ensembl_gene_id: ENSPTRP00000034431
symbol: SCARA5
gene_biotype: protein_coding
description:
  Scavenger receptor class A member 5; Ferritin receptor that mediates non-transferrin-dependent delivery of iron. Mediates cellular uptake of ferritin-bound iron by stimulating ferritin endocytosis from the cell surface with consequent iron delivery within the cell. Delivery of iron to cells by ferritin is required for the development of specific cell types, suggesting the existence of cell type-specific mechanisms of iron traffic in organogenesis, which alternatively utilize transferrin or non- transferrin iron delivery pathways. Ferritin mediates iron uptake in capsule cells of the de [...]


ensembl_gene_id: ENSPTRP00000034471
symbol: GSR
gene_biotype: protein_coding
description:
  Glutathione reductase; Maintains high levels of reduced glutathione in the cytosol. Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family.


ensembl_gene_id: ENSPTRP00000034500
symbol: DUSP26
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase; Dual specificity phosphatase able to dephosphorylate phosphotyrosine, phosphoserine and phosphothreonine residues, with a preference for phosphotyrosine as a substrate. Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSPTRP00000034513
symbol: PLPBP
gene_biotype: protein_coding
description:
  Pyridoxal phosphate homeostasis protein; Pyridoxal 5'-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5'- phosphate (PLP), the active form of vitamin B6; Belongs to the pyridoxal phosphate-binding protein YggS/PROSC family.


ensembl_gene_id: ENSPTRP00000034528
symbol: STAR
gene_biotype: protein_coding
description:
  Steroidogenic acute regulatory protein, mitochondrial; Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone. Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where it is cleaved to pregnenolone.


ensembl_gene_id: ENSPTRP00000034604
symbol: POLB
gene_biotype: protein_coding
description:
  DNA polymerase; DNA polymerase that functions in several pathways of DNA repair. Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA. Also contributes to DNA double-strand break repair by non-homologous end joining and homologous recombination. Has both template-dependent and template- independent (terminal transferase) DNA polymerase activities. Has also a 5'-deoxyribose-5-phosphate lyase (dRP lyase) activity.


ensembl_gene_id: ENSPTRP00000034613
symbol: CHRNA6
gene_biotype: protein_coding
description:
  Neuronal acetylcholine receptor subunit alpha-6; 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.


ensembl_gene_id: ENSPTRP00000034818
symbol: RDH10
gene_biotype: protein_coding
description:
  Retinol dehydrogenase 10 (All-trans); Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000034854
symbol: FABP5
gene_biotype: protein_coding
description:
  Fatty acid binding protein 5 (Psoriasis-associated); Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPTRP00000034857
symbol: FABP4
gene_biotype: protein_coding
description:
  Fatty acid binding protein 4; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPTRP00000035110
symbol: TNFRSF11B
gene_biotype: protein_coding
description:
  Tumor necrosis factor receptor superfamily member 11B; Acts as decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis.


ensembl_gene_id: ENSPTRP00000035139
symbol: DERL1
gene_biotype: protein_coding
description:
  Derlin; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome; Belongs to the derlin family.


ensembl_gene_id: ENSPTRP00000035147
symbol: ZHX1
gene_biotype: protein_coding
description:
  Zinc fingers and homeoboxes protein 1; Acts as a transcriptional repressor. Increases DNMT3B- mediated repressive transcriptional activity when DNMT3B is tethered to DNA. May link molecule between DNMT3B and other co-repressor proteins (By similarity).


ensembl_gene_id: ENSPTRP00000035176
symbol: NDUFB9
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPTRP00000035263
symbol: AGO2
gene_biotype: protein_coding
description:
  Protein argonaute-2; Required for RNA-mediated gene silencing (RNAi) by the RNA- induced silencing complex (RISC). The 'minimal RISC' appears to include AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs direct RISC to complementary mRNAs that are targets for RISC-mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due to endonucleolytic cleavage of the [...]


ensembl_gene_id: ENSPTRP00000035291
symbol: LYNX1
gene_biotype: protein_coding
description:
  Ly-6/neurotoxin-like protein 1; Acts in different tissues through interaction to nicotinic acetylcholine receptors (nAChRs). The proposed role as modulator of nAChR activity seems to be dependent on the nAChR subtype and stoichiometry, and to involve an effect on nAChR trafficking and its cell surface expression, and on single channel properties of the nAChR inserted in the plasma membrane.Modulates functional properties of nicotinic acetylcholine receptors (nAChRs) to prevent excessive excitation, and hence neurodegeneration. Enhances desensitization by increasing both the rate and ex [...]


ensembl_gene_id: ENSPTRP00000035375
symbol: MAF1
gene_biotype: protein_coding
description:
  Repressor of RNA polymerase III transcription MAF1; Element of the TORC1 signaling pathway that acts as a mediator of diverse signals and that represses RNA polymerase III transcription. Inhibits the de novo assembly of TFIIIB onto DNA. Belongs to the MAF1 family.


ensembl_gene_id: ENSPTRP00000035390
symbol: BOP1
gene_biotype: protein_coding
description:
  Ribosome biogenesis protein BOP1; Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.


ensembl_gene_id: ENSPTRP00000035472
symbol: KCNV2
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily V member 2; Belongs to the potassium channel family.


ensembl_gene_id: ENSPTRP00000035487
symbol: AK3
gene_biotype: protein_coding
description:
  GTP:AMP phosphotransferase AK3, mitochondrial; Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has GTP:AMP phosphotransferase and ITP:AMP phosphotransferase activities.


ensembl_gene_id: ENSPTRP00000035495
symbol: INSL6
gene_biotype: protein_coding
description:
  Insulin-like peptide INSL6; May have a role in sperm development and fertilization. Belongs to the insulin family.


ensembl_gene_id: ENSPTRP00000035497
symbol: INSL4
gene_biotype: protein_coding
description:
  Early placenta insulin-like peptide A chain; May play an important role in trophoblast development and in the regulation of bone formation; Belongs to the insulin family.


ensembl_gene_id: ENSPTRP00000035498
symbol: RLN2
gene_biotype: protein_coding
description:
  Relaxin A chain; Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix.


ensembl_gene_id: ENSPTRP00000035592
symbol: SLC24A2
gene_biotype: protein_coding
description:
  Solute carrier family 24 member 2; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSPTRP00000035782
symbol: GBA2
gene_biotype: protein_coding
description:
  Non-lysosomal glucosylceramidase; Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramide (GlcCer) to free glucose and ceramide.


ensembl_gene_id: ENSPTRP00000035797
symbol: CLTA
gene_biotype: protein_coding
description:
  Clathrin light chain; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles; Belongs to the clathrin light chain family.


ensembl_gene_id: ENSPTRP00000036063
symbol: NFIL3
gene_biotype: protein_coding
description:
  Nuclear factor interleukin-3-regulated protein; Acts as a transcriptional regulator that recognizes and binds to the sequence 5'-[GA]TTA[CT]GTAA[CT]-3', a sequence present in many cellular and viral promoters. Represses transcription from promoters with activating transcription factor (ATF) sites. Represses promoter activity in osteoblasts. Represses transcriptional activity of PER1. Represses transcriptional activity of PER2 via the B-site on the promoter. Activates transcription from the interleukin-3 promoter in T- cells. Competes for the same consensus-binding site with PAR DNA- bi [...]


ensembl_gene_id: ENSPTRP00000036064
symbol: ROR2
gene_biotype: protein_coding
description:
  Receptor tyrosine kinase-like orphan receptor 2; Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily.


ensembl_gene_id: ENSPTRP00000036083
symbol: IPPK
gene_biotype: protein_coding
description:
  Inositol-pentakisphosphate 2-kinase; Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate).


ensembl_gene_id: ENSPTRP00000036132
symbol: FANCC
gene_biotype: protein_coding
description:
  Fanconi anemia group C protein homolog; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1.


ensembl_gene_id: ENSPTRP00000036204
symbol: SEC61B
gene_biotype: protein_coding
description:
  Protein transport protein Sec61 subunit beta; Necessary for protein translocation in the endoplasmic reticulum.


ensembl_gene_id: ENSPTRP00000036274
symbol: ELP1
gene_biotype: protein_coding
description:
  Elongator complex protein 1; Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation. Belongs to the ELP1/IKA1 family.


ensembl_gene_id: ENSPTRP00000036363
symbol: ORM2
gene_biotype: protein_coding
description:
  Alpha-1-acid glycoprotein; Functions as transport protein in the blood stream. Belongs to the calycin superfamily. Lipocalin family.


ensembl_gene_id: ENSPTRP00000036372
symbol: ATP6V1G1
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit G; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.


ensembl_gene_id: ENSPTRP00000036436
symbol: NDUFA8
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPTRP00000036554
symbol: SLC2A8
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 8; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPTRP00000036581
symbol: ST6GALNAC6
gene_biotype: protein_coding
description:
  ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSPTRP00000036585
symbol: ST6GALNAC4
gene_biotype: protein_coding
description:
  ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSPTRP00000036589
symbol: DPM2
gene_biotype: protein_coding
description:
  Dolichol phosphate-mannose biosynthesis regulatory protein; Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization. Belongs to the DPM2 family.


ensembl_gene_id: ENSPTRP00000036621
symbol: COQ4
gene_biotype: protein_coding
description:
  Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial; Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides; Belongs to the COQ4 family.


ensembl_gene_id: ENSPTRP00000036629
symbol: URM1
gene_biotype: protein_coding
description:
  Ubiquitin-related modifier 1; Acts as a sulfur carrier required for 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Serves as sulfur donor in tRNA 2-thiolation reaction by being thiocarboxylated (-COSH) at its C-terminus by MOCS3. The sulfur is then transferred to tRNA to form 2-thiolation of mcm(5)S(2)U. Also acts as a ubiquitin-like protein (UBL) that is covalently conjugated via an isopeptide bond to lysine residues of target proteins such as MOCS3, ATPBD3, CTU2, USP15 and CAS. The thiocarboxylated form serves as substrate for co [...]


ensembl_gene_id: ENSPTRP00000036745
symbol: PRDM12
gene_biotype: protein_coding
description:
  PR domain zinc finger protein 12; Involved in the positive regulation of histone H3-K9 dimethylation; Belongs to the class V-like SAM-binding methyltransferase superfamily.


ensembl_gene_id: ENSPTRP00000037005
symbol: CACNA1B
gene_biotype: protein_coding
description:
  Voltage-dependent N-type calcium channel subunit alpha; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1B gives rise to N-type calcium currents.


ensembl_gene_id: ENSPTRP00000037217
symbol: PHKA2
gene_biotype: protein_coding
description:
  Phosphorylase b kinase regulatory subunit; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I.


ensembl_gene_id: ENSPTRP00000037316
symbol: IL1RAPL1
gene_biotype: protein_coding
description:
  Interleukin-1 receptor accessory protein-like 1; May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel. May activate the MAP kinase JNK (By similarity). Plays a role in neurite outgrowth (By similarity). During dendritic spine formation can bidirectionally induce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity).


ensembl_gene_id: ENSPTRP00000037399
symbol: OTC
gene_biotype: protein_coding
description:
  Ornithine carbamoyltransferase; Belongs to the aspartate/ornithine carbamoyltransferase superfamily.


ensembl_gene_id: ENSPTRP00000037400
symbol: TSPAN7
gene_biotype: protein_coding
description:
  Tetraspanin-7; May be involved in cell proliferation and cell motility; Belongs to the tetraspanin (TM4SF) family.


ensembl_gene_id: ENSPTRP00000037476
symbol: RP2
gene_biotype: protein_coding
description:
  Protein XRP2; Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization.


ensembl_gene_id: ENSPTRP00000037483
symbol: NDUFB11-2
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, 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: ENSPTRP00000037544
symbol: SUV39H1
gene_biotype: protein_coding
description:
  Histone-lysine N-methyltransferase; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily.


ensembl_gene_id: ENSPTRP00000037656
symbol: HSD17B10
gene_biotype: protein_coding
description:
  Hydroxysteroid (17-beta) dehydrogenase 10; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000037716
symbol: APEX2
gene_biotype: protein_coding
description:
  DNA-(apurinic or apyrimidinic site) lyase; Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends.


ensembl_gene_id: ENSPTRP00000037806
symbol: KIF4A
gene_biotype: protein_coding
description:
  Kinesin family member 4A; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPTRP00000037969
symbol: CHM
gene_biotype: protein_coding
description:
  Rab proteins geranylgeranyltransferase component A; Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane.


ensembl_gene_id: ENSPTRP00000037983
symbol: TGIF2LX
gene_biotype: protein_coding
description:
  Homeobox protein TGIF2LX; May have a transcription role in testis; Belongs to the TALE/TGIF homeobox family.


ensembl_gene_id: ENSPTRP00000038088
symbol: SERPINA7
gene_biotype: protein_coding
description:
  Thyroxine-binding globulin; Major thyroid hormone transport protein in serum; Belongs to the serpin family.


ensembl_gene_id: ENSPTRP00000038200
symbol: TRPC5
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily C member 5; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPTRP00000038211
symbol: HTR2C
gene_biotype: protein_coding
description:
  5-hydroxytryptamine receptor 2C; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances, including ergot alkaloid derivatives, 1-2,5,- dimethoxy-4-iodophenyl-2-aminopropane (DOI) and lysergic acid diethylamide (LSD). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathway [...]


ensembl_gene_id: ENSPTRP00000038259
symbol: UBE2A
gene_biotype: protein_coding
description:
  Ubiquitin-conjugating enzyme E2A (RAD6 homolog); Belongs to the ubiquitin-conjugating enzyme family.


ensembl_gene_id: ENSPTRP00000038388
symbol: GPC4
gene_biotype: protein_coding
description:
  GPC4 isoform 1; Cell surface proteoglycan that bears heparan sulfate. Belongs to the glypican family.


ensembl_gene_id: ENSPTRP00000038417
symbol: ZNF449
gene_biotype: protein_coding
description:
  Zinc finger protein 449; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPTRP00000038557
symbol: GABRE
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor epsilon subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000038563
symbol: GABRA3
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor alpha3 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000038564
symbol: GABRQ
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor theta subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSPTRP00000038725
symbol: VBP1
gene_biotype: protein_coding
description:
  Prefoldin subunit 3; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins; Belongs to the prefoldin subunit alpha family.


ensembl_gene_id: ENSPTRP00000038745
symbol: SRY
gene_biotype: protein_coding
description:
  Sex-determining region Y protein; Transcriptional regulator that controls a genetic switch in male development. It is responsible for initiating male sex determination. SRY HMG box recognizes DNA by partial intercalation in the minor groove. Promotes DNA bending (By similarity).


ensembl_gene_id: ENSPTRP00000038771
symbol: DDX3Y
gene_biotype: protein_coding
description:
  ATP-dependent RNA helicase DDX3Y; Probable ATP-dependent RNA helicase. May play a role in spermatogenesis (By similarity); Belongs to the DEAD box helicase family. DDX3/DED1 subfamily.


ensembl_gene_id: ENSPTRP00000038797
symbol: EIF1AY
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 1A, Y-chromosomal; Seems to be required for maximal rate of protein biosynthesis. Enhances ribosome dissociation into subunits and stabilizes the binding of the initiator Met-tRNA(I) to 40 S ribosomal subunits (By similarity); Belongs to the eIF-1A family.


ensembl_gene_id: ENSPTRP00000038922
symbol: PRMT2
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase 2; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSPTRP00000038931
symbol: CPE
gene_biotype: protein_coding
description:
  Carboxypeptidase E; Sorting receptor that directs prohormones to the regulated secretory pathway. Acts also as a prohormone processing enzyme in neuro/endocrine cells, removing dibasic residues from the C-terminal end of peptide hormone precursors after initial endoprotease cleavage.


ensembl_gene_id: ENSPTRP00000038991
symbol: ACE
gene_biotype: protein_coding
description:
  Angiotensin-converting enzyme, soluble form; Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results in an increase of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin, a potent vasodilator. Has also a glycosidase activity which releases GPI- anchored proteins from the membrane by cleaving the mannose linkage in the GPI moiety (By similarity); Belongs to the peptidase M2 family.


ensembl_gene_id: ENSPTRP00000039059
symbol: SND1
gene_biotype: protein_coding
description:
  Staphylococcal nuclease domain-containing protein; Endonuclease that mediates miRNA decay of both protein-free and AGO2-loaded miRNAs.


ensembl_gene_id: ENSPTRP00000039088
symbol: GTF2E2
gene_biotype: protein_coding
description:
  Transcription initiation factor IIE subunit beta; Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase.


ensembl_gene_id: ENSPTRP00000039089
symbol: SDAD1
gene_biotype: protein_coding
description:
  Protein SDA1; Required for 60S pre-ribosomal subunits export to the cytoplasm; Belongs to the SDA1 family.


ensembl_gene_id: ENSPTRP00000039102
symbol: KIF13B
gene_biotype: protein_coding
description:
  Kinesin family member 13B; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPTRP00000039122
symbol: KCNK5
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 5; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSPTRP00000039163
symbol: MSRB3
gene_biotype: protein_coding
description:
  Peptide-methionine (R)-S-oxide reductase; Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residues.


ensembl_gene_id: ENSPTRP00000039458
symbol: PABPC4
gene_biotype: protein_coding
description:
  Polyadenylate-binding protein; Binds the poly(A) tail of mRNA. Belongs to the polyadenylate-binding protein type-1 family.


ensembl_gene_id: ENSPTRP00000039618
symbol: PELI1
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase pellino homolog; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.


ensembl_gene_id: ENSPTRP00000039675
symbol: SLC26A3
gene_biotype: protein_coding
description:
  Chloride anion exchanger; Chloride/bicarbonate exchanger. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSPTRP00000039843
symbol: TRIM26
gene_biotype: protein_coding
description:
  Tripartite motif-containing protein 26; E3 ubiquitin-protein ligase which regulates the IFN-beta production and antiviral response downstream of various DNA-encoded pattern-recognition receptors (PRRs). Promotes nuclear IRF3 ubiquitination and proteasomal degradation. Bridges together TBK1 and NEMO during the innate response to viral infection leading to the activation of TBK1.


ensembl_gene_id: ENSPTRP00000040007
symbol: F3
gene_biotype: protein_coding
description:
  Tissue factor; Initiates blood coagulation by forming a complex with circulating factor VII or VIIa. The [TF:VIIa] complex activates factors IX or X by specific limited proteolysis. TF plays a role in normal hemostasis by initiating the cell-surface assembly and propagation of the coagulation protease cascade.


ensembl_gene_id: ENSPTRP00000040063
symbol: GTF2F2
gene_biotype: protein_coding
description:
  General transcription factor IIF subunit 2; TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation. This subunit shows ATP-dependent DNA-helicase activity.


ensembl_gene_id: ENSPTRP00000040242
symbol: NDOR1
gene_biotype: protein_coding
description:
  NADPH-dependent diflavin oxidoreductase 1; Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery. Required for the maturation of extramitochondrial Fe-S proteins. Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis. Transfers electrons from NADPH to the Fe/S cluster of CIAPIN1. In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.


ensembl_gene_id: ENSPTRP00000040511
symbol: DHRS11
gene_biotype: protein_coding
description:
  Dehydrogenase/reductase (SDR family) member 11; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000040536
symbol: SMARCB1
gene_biotype: protein_coding
description:
  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1; Belongs to the SNF5 family.


ensembl_gene_id: ENSPTRP00000040585
symbol: PRSS36
gene_biotype: protein_coding
description:
  Polyserase-2; Serine protease. Has a preference for substrates with an Arg instead of a Lys residue in position P1. Belongs to the peptidase S1 family.


ensembl_gene_id: ENSPTRP00000040751
symbol: PPIP5K1
gene_biotype: protein_coding
description:
  Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase; Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates  [...]


ensembl_gene_id: ENSPTRP00000040756
symbol: SMARCAL1
gene_biotype: protein_coding
description:
  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1; Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily.


ensembl_gene_id: ENSPTRP00000040768
symbol: ST6GAL2
gene_biotype: protein_coding
description:
  Beta-galactoside alpha-2,6-sialyltransferase 2; Transfers sialic acid from the donor of substrate CMP-sialic acid to galactose containing acceptor substrates. Has alpha-2,6- sialyltransferase activity toward oligosaccharides that have the Gal- beta-1,4-GlcNAc sequence at the non-reducing end of their carbohydrate groups, but it has weak or no activities toward glycoproteins and glycolipids.


ensembl_gene_id: ENSPTRP00000040910
symbol: POP5
gene_biotype: protein_coding
description:
  Ribonuclease P/MRP protein subunit POP5; Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends.


ensembl_gene_id: ENSPTRP00000040980
symbol: FCGR2A
gene_biotype: protein_coding
description:
  Low affinity immunoglobulin gamma Fc region receptor II-a; Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized antigens (By similarity).


ensembl_gene_id: ENSPTRP00000041014
symbol: ZMYND10
gene_biotype: protein_coding
description:
  Zinc finger MYND domain-containing protein 10; Plays a role in axonemal structure organization and motility. Involved in axonemal pre-assembly of inner and outer dynein arms (IDA and ODA, respectively) for proper axoneme building for cilia motility. May act by indirectly regulating transcription of dynein proteins. Belongs to the ZMYND10 family.


ensembl_gene_id: ENSPTRP00000041272
symbol: CARM1
gene_biotype: protein_coding
description:
  Coactivator associated arginine methyltransferase 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSPTRP00000041355
symbol: HMCES
gene_biotype: protein_coding
description:
  Abasic site processing protein HMCES; Sensor of abasic sites in single-stranded DNA (ssDNA) required to preserve genome integrity by promoting error-free repair of abasic sites. Acts as an enzyme that recognizes and binds abasic sites in ssDNA at replication forks and chemically modifies the lesion by forming a covalent cross-link with DNA. The HMCES DNA-protein cross- link is then degraded by the proteasome. Promotes error-free repair of abasic sites by acting as a 'suicide' enzyme that is degraded, thereby protecting abasic sites from translesion synthesis (TLS) polymerases and endon [...]


ensembl_gene_id: ENSPTRP00000041660
symbol: ECHS1
gene_biotype: protein_coding
description:
  Enoyl CoA hydratase, short chain, 1, mitochondrial; Belongs to the enoyl-CoA hydratase/isomerase family.


ensembl_gene_id: ENSPTRP00000041919
symbol: IMPDH2
gene_biotype: protein_coding
description:
  Inosine-5'-monophosphate dehydrogenase; Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.


ensembl_gene_id: ENSPTRP00000042229
symbol: DIS3L2
gene_biotype: protein_coding
description:
  DIS3-like exonuclease 2; 3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mi [...]


ensembl_gene_id: ENSPTRP00000042390
symbol: DSG4
gene_biotype: protein_coding
description:
  DSG4 isoform 2; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSPTRP00000042596
symbol: MDC1
gene_biotype: protein_coding
description:
  Mediator of DNA damage checkpoint protein 1; Required for checkpoint mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle. May serve as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage marked by 'Ser-139' phosphorylation of histone H2AX. Also required for downstream events subsequent to the recruitment of these proteins. These include phosphorylation and activation of the ATM, CHEK1 and CHEK2 kinases, and stabilization of TP53 and apoptosis. ATM and CHEK2 may also be ac [...]


ensembl_gene_id: ENSPTRP00000042684
symbol: AVPR1B
gene_biotype: protein_coding
description:
  Vasopressin V1b receptor; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system. Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.


ensembl_gene_id: ENSPTRP00000042712
symbol: CDH6
gene_biotype: protein_coding
description:
  Cadherin 6, type 2, K-cadherin (Fetal kidney); Cadherins are calcium-dependent cell adhesion proteins.


ensembl_gene_id: ENSPTRP00000042754
symbol: BGN
gene_biotype: protein_coding
description:
  Biglycan; May be involved in collagen fiber assembly. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily.


ensembl_gene_id: ENSPTRP00000042793
symbol: CYP2D6
gene_biotype: protein_coding
description:
  Cytochrome P450 2D6; A cytochrome P450 monooxygenase involved in the metabolism of fatty acids, steroids and retinoids. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA). Metabolizes endocannabinoid arachidonoylethanolamide (anandamide) to 20-hydroxyeicosatetraenoic acid ethanolamide (20-HETE-EA) and 8,9-, 11,12-, and 14,15-epoxyei [...]


ensembl_gene_id: ENSPTRP00000042795
symbol: APAF1
gene_biotype: protein_coding
description:
  Apoptotic protease-activating factor 1; Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP.


ensembl_gene_id: ENSPTRP00000042807
symbol: KIF15
gene_biotype: protein_coding
description:
  Kinesin family member 15; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPTRP00000042959
symbol: KIF1C
gene_biotype: protein_coding
description:
  Kinesin family member 1C; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPTRP00000043115
symbol: KRT1
gene_biotype: protein_coding
description:
  Keratin, type II cytoskeletal 1; May regulate the activity of kinases such as PKC and SRC via binding to integrin beta 1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK (By similarity).


ensembl_gene_id: ENSPTRP00000043428
symbol: SRSF2
gene_biotype: protein_coding
description:
  Serine/arginine-rich splicing factor 2; Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites during spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre-mRNA. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Binds to purine-rich RNA sequences, either 5'-AGSAGAGTA-3' (S=C or G) or 5 [...]


ensembl_gene_id: ENSPTRP00000043439
symbol: TCF19
gene_biotype: protein_coding
description:
  Transcription factor 19; Potential trans-activating factor that could play an important role in the transcription of genes required for the later stages of cell cycle progression.


ensembl_gene_id: ENSPTRP00000043666
symbol: DDIT3
gene_biotype: protein_coding
description:
  DNA damage-inducible transcript 3 protein; Multifunctional transcription factor in ER stress response. Plays an essential role in the response to a wide variety of cell stresses and induces cell cycle arrest and apoptosis in response to ER stress. Plays a dual role both as an inhibitor of CCAAT/enhancer- binding protein (C/EBP) function and as an activator of other genes. Acts as a dominant-negative regulator of C/EBP-induced transcription: dimerizes with members of the C/EBP family, impairs their association with C/EBP binding sites in the promoter regions, and inhibits the expression [...]


ensembl_gene_id: ENSPTRP00000043686
symbol: OPRM1
gene_biotype: protein_coding
description:
  Mu-type opioid receptor; Receptor for endogenous opioids such as beta-endorphin and endomorphin. Receptor for natural and synthetic opioids including morphine, heroin, DAMGO, fentanyl, etorphine, buprenorphin and methadone. Agonist binding to the receptor induces coupling to an inactive GDP-bound heterotrimeric G-protein complex and subsequent exchange of GDP for GTP in the G-protein alpha subunit leading to dissociation of the G-protein complex with the free GTP-bound G-protein alpha and the G-protein beta-gamma dimer activating downstream cellular effectors. The agonist- and cell typ [...]


ensembl_gene_id: ENSPTRP00000043696
symbol: TRDMT1
gene_biotype: protein_coding
description:
  tRNA aspartic acid methyltransferase 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.


ensembl_gene_id: ENSPTRP00000043721
symbol: MBOAT1
gene_biotype: protein_coding
description:
  Membrane bound O-acyltransferase domain containing 1; Belongs to the membrane-bound acyltransferase family.


ensembl_gene_id: ENSPTRP00000043827
symbol: WDR55
gene_biotype: protein_coding
description:
  WD repeat-containing protein 55; Nucleolar protein that acts as a modulator of rRNA synthesis. Plays a central role during organogenesis. Belongs to the WD repeat WDR55 family.


ensembl_gene_id: ENSPTRP00000044180
symbol: AGO4
gene_biotype: protein_coding
description:
  Protein argonaute-4; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs.


ensembl_gene_id: ENSPTRP00000044216
symbol: CDC42BPG
gene_biotype: protein_coding
description:
  CDC42 binding protein kinase gamma; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.


ensembl_gene_id: ENSPTRP00000044272
symbol: LONP1
gene_biotype: protein_coding
description:
  Lon protease homolog, mitochondrial; ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single-stranded, site-specific, and strand- specific manner. May regulate mi [...]


ensembl_gene_id: ENSPTRP00000044289
symbol: SLC2A6
gene_biotype: protein_coding
description:
  Solute carrier family 2 (Facilitated glucose transporter), member 6; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSPTRP00000044414
symbol: IL13-2
gene_biotype: protein_coding
description:
  Interleukin-13; Cytokine. Inhibits inflammatory cytokine production. Synergizes with IL2 in regulating interferon-gamma synthesis. May be critical in regulating inflammatory and immune responses. Positively regulates IL31RA expression in macrophages.


ensembl_gene_id: ENSPTRP00000044536
symbol: ATP5MC1
gene_biotype: protein_coding
description:
  ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (Subunit 9); Belongs to the ATPase C chain family.


ensembl_gene_id: ENSPTRP00000044720
symbol: SLC26A1
gene_biotype: protein_coding
description:
  Sulfate anion transporter 1; Mediates sulfate transport with high affinity. Mediates oxalate transport. Mediates bicarbonate transport. Does not accept succinate as cosubstrate; Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSPTRP00000044751
symbol: SFT2D1
gene_biotype: protein_coding
description:
  Vesicle transport protein; May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex. Belongs to the SFT2 family.


ensembl_gene_id: ENSPTRP00000044752
symbol: ACLY
gene_biotype: protein_coding
description:
  ATP-citrate synthase; Catalyzes the cleavage of citrate into oxaloacetate and acetyl-CoA, the latter serving as common substrate for de novo cholesterol and fatty acid synthesis; In the N-terminal section; belongs to the succinate/malate CoA ligase beta subunit family.


ensembl_gene_id: ENSPTRP00000044858
symbol: TAS1R3
gene_biotype: protein_coding
description:
  Taste receptor type 1 member 3; Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners. TAS1R3 is essential for the recognition and response to the disaccharide trehalose (By similarity). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses (By similarity).


ensembl_gene_id: ENSPTRP00000044863
symbol: HSD17B11
gene_biotype: protein_coding
description:
  Hydroxysteroid (17-beta) dehydrogenase 11; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSPTRP00000044929
symbol: RTN1
gene_biotype: protein_coding
description:
  Reticulon-1; May be involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells.


ensembl_gene_id: ENSPTRP00000044953
symbol: PIK3CG
gene_biotype: protein_coding
description:
  Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSPTRP00000045149
symbol: PC
gene_biotype: protein_coding
description:
  Pyruvate carboxylase; Catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second.


ensembl_gene_id: ENSPTRP00000045223
symbol: GART
gene_biotype: protein_coding
description:
  Trifunctional purine biosynthetic protein adenosine-3; In the C-terminal section; belongs to the GART family.  In the central section; belongs to the AIR synthase family.


ensembl_gene_id: ENSPTRP00000045277
symbol: SEPTIN2
gene_biotype: protein_coding
description:
  SEPT2 isoform 11; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSPTRP00000045284
symbol: FLT4
gene_biotype: protein_coding
description:
  Fms related tyrosine kinase 4; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSPTRP00000045313
symbol: NIF3L1
gene_biotype: protein_coding
description:
  NIF3-like protein 1; May function as a transcriptional corepressor through its interaction with COPS2, negatively regulating the expression of genes involved in neuronal differentiation.


ensembl_gene_id: ENSPTRP00000045442
symbol: DSC3
gene_biotype: protein_coding
description:
  DSC3 isoform 1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSPTRP00000045507
symbol: PIGK
gene_biotype: protein_coding
description:
  GPI-anchor transamidase; Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein. Belongs to the peptidase C13 family.


ensembl_gene_id: ENSPTRP00000045593
symbol: EEF1A1
gene_biotype: protein_coding
description:
  Elongation factor 1-alpha 1; This protein promotes the GTP-dependent binding of aminoacyl- tRNA to the A-site of ribosomes during protein biosynthesis. With PARP1 and TXK, forms a complex that acts as a T helper 1 (Th1) cell-specific transcription factor and binds the promoter of IFN-gamma to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily.


ensembl_gene_id: ENSPTRP00000045598
symbol: CTPS2
gene_biotype: protein_coding
description:
  CTP synthase; Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen.


ensembl_gene_id: ENSPTRP00000045620
symbol: TRPC4
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel, subfamily C, member 4; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPTRP00000045721
symbol: NSUN2
gene_biotype: protein_coding
description:
  NOP2/Sun domain family, member 2; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSPTRP00000045734
symbol: WDR35
gene_biotype: protein_coding
description:
  WD repeat-containing protein 35; As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking.


ensembl_gene_id: ENSPTRP00000045835
symbol: PPME1
gene_biotype: protein_coding
description:
  Protein phosphatase methylesterase 1; Demethylates proteins that have been reversibly carboxymethylated.


ensembl_gene_id: ENSPTRP00000046399
symbol: DNM3
gene_biotype: protein_coding
description:
  DNM3 isoform 4; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSPTRP00000046433
symbol: AP3M1
gene_biotype: protein_coding
description:
  AP-3 complex subunit mu-1; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes; Belongs to the adaptor complexes medium subunit family.


ensembl_gene_id: ENSPTRP00000046498
symbol: CLUH
gene_biotype: protein_coding
description:
  Clustered mitochondria protein homolog; mRNA-binding protein involved in proper cytoplasmic distribution of mitochondria. Specifically binds mRNAs of nuclear- encoded mitochondrial proteins in the cytoplasm and regulates transport or translation of these transcripts close to mitochondria, playing a role in mitochondrial biogenesis; Belongs to the CLU family.


ensembl_gene_id: ENSPTRP00000046657
symbol: TRPA1
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily A member 1; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPTRP00000046688
symbol: FABP12
gene_biotype: protein_coding
description:
  Fatty acid binding protein 12; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSPTRP00000046803
symbol: TOP3B
gene_biotype: protein_coding
description:
  DNA topoisomerase; Introduces a single-strand break via transesterification at a target site in duplex DNA. Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. Belongs to the type IA topoisomerase family.


ensembl_gene_id: ENSPTRP00000046835
symbol: GDI2
gene_biotype: protein_coding
description:
  Rab GDP dissociation inhibitor; Regulates the GDP/GTP exchange reaction of most RAB proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP; Belongs to the Rab GDI family.


ensembl_gene_id: ENSPTRP00000047203
symbol: GDI1
gene_biotype: protein_coding
description:
  Rab GDP dissociation inhibitor alpha; Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes (By similarity).


ensembl_gene_id: ENSPTRP00000047240
symbol: F9
gene_biotype: protein_coding
description:
  Coagulation factor IXa heavy chain; Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa; Belongs to the peptidase S1 family.


ensembl_gene_id: ENSPTRP00000047271
symbol: SH2D1A
gene_biotype: protein_coding
description:
  SH2 domain-containing protein 1A; Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2.


ensembl_gene_id: ENSPTRP00000047344
symbol: TRMT2B
gene_biotype: protein_coding
description:
  TRM2 tRNA methyltransferase 2 homolog B; Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA M5U methyltransferase family.


ensembl_gene_id: ENSPTRP00000047467
symbol: NR0B1
gene_biotype: protein_coding
description:
  Nuclear receptor subfamily 0 group B member 1; Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity). Belongs to the nuclear hormone receptor family. NR0 subfamily.


ensembl_gene_id: ENSPTRP00000047484
symbol: SCML1
gene_biotype: protein_coding
description:
  Sex comb on midleg-like protein 1; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. May be involved in spermatogenesis during sexual maturation (By similarity); Belongs to the SCM family.


ensembl_gene_id: ENSPTRP00000047553
symbol: ATG9B
gene_biotype: protein_coding
description:
  Autophagy-related protein 9; Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle. Belongs to the ATG9 family.


ensembl_gene_id: ENSPTRP00000047646
symbol: HSPB2
gene_biotype: protein_coding
description:
  Heat shock protein family B (small) member 2; Belongs to the small heat shock protein (HSP20) family.


ensembl_gene_id: ENSPTRP00000047674
symbol: CAPZA2
gene_biotype: protein_coding
description:
  F-actin-capping protein subunit alpha-2; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments (By similarity).


ensembl_gene_id: ENSPTRP00000047698
symbol: FUT4
gene_biotype: protein_coding
description:
  Alpha-(1,3)-fucosyltransferase 4; May catalyze alpha-1,3 glycosidic linkages involved in the expression of Lewis X/SSEA-1 and VIM-2 antigens.


ensembl_gene_id: ENSPTRP00000047720
symbol: PMPCB
gene_biotype: protein_coding
description:
  Mitochondrial-processing peptidase subunit beta, mitochondrial; Belongs to the peptidase M16 family.


ensembl_gene_id: ENSPTRP00000047824
symbol: EIF4E1B
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 4E family member 1B; Belongs to the eukaryotic initiation factor 4E family.


ensembl_gene_id: ENSPTRP00000047847
symbol: ATP6V0E1
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit; Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.


ensembl_gene_id: ENSPTRP00000047954
symbol: PCDHB9
gene_biotype: protein_coding
description:
  Protocadherin beta-9; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.


ensembl_gene_id: ENSPTRP00000048060
symbol: NPSR1
gene_biotype: protein_coding
description:
  Neuropeptide S receptor 1; Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.


ensembl_gene_id: ENSPTRP00000048113
symbol: ATG12
gene_biotype: protein_coding
description:
  Ubiquitin-like protein ATG12; Ubiquitin-like protein involved in autophagic vesicle formation; Belongs to the ATG12 family.


ensembl_gene_id: ENSPTRP00000048215
symbol: HPS5
gene_biotype: protein_coding
description:
  Hermansky-Pudlak syndrome 5 protein homolog; May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules.


ensembl_gene_id: ENSPTRP00000048282
symbol: HBG1
gene_biotype: protein_coding
description:
  Hemoglobin subunit gamma-1; Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.


ensembl_gene_id: ENSPTRP00000048366
symbol: SDHA
gene_biotype: protein_coding
description:
  Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial; Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).


ensembl_gene_id: ENSPTRP00000048497
symbol: TSEN34
gene_biotype: protein_coding
description:
  tRNA-splicing endonuclease subunit Sen34; Constitutes one of the two catalytic subunit of the tRNA- splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structura [...]


ensembl_gene_id: ENSPTRP00000048498
symbol: NDUFA3-2
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3; 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: ENSPTRP00000048500
symbol: CACNG8
gene_biotype: protein_coding
description:
  Voltage-dependent calcium channel gamma-8 subunit; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.


ensembl_gene_id: ENSPTRP00000048655
symbol: AGPAT2
gene_biotype: protein_coding
description:
  1-acyl-sn-glycerol-3-phosphate acyltransferase; Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family.


ensembl_gene_id: ENSPTRP00000048970
symbol: ITGAV
gene_biotype: protein_coding
description:
  Integrin, alpha V (Vitronectin receptor, alpha polypeptide, antigen CD51); Belongs to the integrin alpha chain family.


ensembl_gene_id: ENSPTRP00000049078
symbol: FUT6
gene_biotype: protein_coding
description:
  Alpha-(1,3)-fucosyltransferase 6; Enzyme involved in the biosynthesis of the E-Selectin ligand, sialyl-Lewis X. Catalyzes the transfer of fucose from GDP-beta-fucose to alpha-2,3 sialylated substrates (By similarity).


ensembl_gene_id: ENSPTRP00000049092
symbol: TICAM1
gene_biotype: protein_coding
description:
  TIR domain-containing adapter molecule 1; Involved in innate immunity against invading pathogens. Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines.


ensembl_gene_id: ENSPTRP00000049279
symbol: ANXA1
gene_biotype: protein_coding
description:
  Annexin A1; Plays important roles in the innate immune response as effector of glucocorticoid-mediated responses and regulator of the inflammatory process. Has anti-inflammatory activity. Plays a role in glucocorticoid-mediated down-regulation of the early phase of the inflammatory response. Promotes resolution of inflammation and wound healing (By similarity). Functions at least in part by activating the formyl peptide receptors and downstream signaling cascades. Promotes chemotaxis of granulocytes and monocytes via activation of Fthe formyl peptide receptors (By similarity). Contribu [...]


ensembl_gene_id: ENSPTRP00000049359
symbol: KIF24
gene_biotype: protein_coding
description:
  Kinesin family member 24; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSPTRP00000049431
symbol: DSG3
gene_biotype: protein_coding
description:
  DSG3 isoform 1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSPTRP00000049477
symbol: GLDC
gene_biotype: protein_coding
description:
  Glycine cleavage system P protein; The glycine cleavage system catalyzes the degradation of glycine.


ensembl_gene_id: ENSPTRP00000049853
symbol: P2RX7
gene_biotype: protein_coding
description:
  P2X purinoceptor; Receptor for ATP that acts as a ligand-gated ion channel. Belongs to the P2X receptor family.


ensembl_gene_id: ENSPTRP00000050073
symbol: LYZ
gene_biotype: protein_coding
description:
  Lysozyme C; Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte-macrophage system and enhance the activity of immunoagents.


ensembl_gene_id: ENSPTRP00000050113
symbol: DNPH1
gene_biotype: protein_coding
description:
  2'-deoxynucleoside 5'-phosphate N-hydrolase 1; Catalyzes the cleavage of the N-glycosidic bond of deoxyribonucleoside 5'-monophosphates to yield deoxyribose 5-phosphate and a purine or pyrimidine base. Deoxyribonucleoside 5'-monophosphates containing purine bases are preferred to those containing pyrimidine bases.


ensembl_gene_id: ENSPTRP00000050125
symbol: EEF1AKMT2
gene_biotype: protein_coding
description:
  EEF1A lysine methyltransferase 2; Protein-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at 'Lys-318'; Belongs to the class I-like SAM-binding methyltransferase superfamily. EFM4 family.


ensembl_gene_id: ENSPTRP00000050292
symbol: TARBP2
gene_biotype: protein_coding
description:
  RISC-loading complex subunit TARBP2; Required for formation of the RNA induced silencing complex (RISC). Component of the RISC loading complex (RLC), also known as the micro-RNA (miRNA) loading complex (miRLC), which is composed of DICER1, AGO2 and TARBP2. Within the RLC/miRLC, DICER1 and TARBP2 are required to process precursor miRNAs (pre-miRNAs) to mature miRNAs and then load them onto AGO2. AGO2 bound to the mature miRNA constitutes the minimal RISC and may subsequently dissociate from DICER1 and TARBP2. May also play a role in the production of short interfering RNAs (siRNAs) from [...]


ensembl_gene_id: ENSPTRP00000050327
symbol: HPS6
gene_biotype: protein_coding
description:
  Hermansky-Pudlak syndrome 6 protein homolog; May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules.


ensembl_gene_id: ENSPTRP00000050393
symbol: XPOT
gene_biotype: protein_coding
description:
  Exportin-T; tRNA nucleus export receptor which facilitates tRNA translocation across the nuclear pore complex. Belongs to the exportin family.


ensembl_gene_id: ENSPTRP00000050396
symbol: LTB
gene_biotype: protein_coding
description:
  Lymphotoxin-beta; Cytokine that binds to LTBR/TNFRSF3. May play a specific role in immune response regulation. Provides the membrane anchor for the attachment of the heterotrimeric complex to the cell surface (By similarity).


ensembl_gene_id: ENSPTRP00000050429
symbol: RPP21
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase TRIM39; E3 ubiquitin-protein ligase (By similarity). May facilitate apoptosis by inhibiting APC/C-Cdh1-mediated poly-ubiquitination and subsequent proteasome-mediated degradation of the pro-apoptotic protein MOAP1 (By similarity). Regulates the G1/S transition of the cell cycle and DNA damage-induced G2 arrest by stabilizing CDKN1A/p21 (By similarity). Positively regulates CDKN1A/p21 stability by competing with DTL for CDKN1A/p21 binding, therefore disrupting DCX(DTL) E3 ubiquitin ligase complex-mediated CDKN1A/p21 ubiquitination and degradation (By similari [...]


ensembl_gene_id: ENSPTRP00000050501
symbol: PTPN6
gene_biotype: protein_coding
description:
  Tyrosine-protein phosphatase non-receptor type; Belongs to the protein-tyrosine phosphatase family. Non- receptor class 2 subfamily.


ensembl_gene_id: ENSPTRP00000050925
symbol: UBC
gene_biotype: protein_coding
description:
  Polyubiquitin-C; [Ubiquitin]: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair [...]


ensembl_gene_id: ENSPTRP00000050977
symbol: GFM1
gene_biotype: protein_coding
description:
  Elongation factor G, mitochondrial; Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mito [...]


ensembl_gene_id: ENSPTRP00000051007
symbol: MTR
gene_biotype: protein_coding
description:
  Methionine synthase; Catalyzes the transfer of a methyl group from methyl- cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate.


ensembl_gene_id: ENSPTRP00000051053
symbol: LOC740780
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 7C, 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: ENSPTRP00000051084
symbol: RUVBL1
gene_biotype: protein_coding
description:
  RuvB-like helicase; Proposed core component of the chromatin remodeling Ino80 complex which exhibits DNA- and nucleosome-activated ATPase activity and catalyzes ATP-dependent nucleosome sliding.


ensembl_gene_id: ENSPTRP00000051151
symbol: QTRT2
gene_biotype: protein_coding
description:
  Queuine tRNA-ribosyltransferase accessory subunit 2; Non-catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2- cyclopenten-1-yl)amino)methyl)-7-deazaguanosine); Belongs to the queuine tRNA-ribosyltransferase family. QTRT2 subfamily.


ensembl_gene_id: ENSPTRP00000051253
symbol: SLC26A9
gene_biotype: protein_coding
description:
  Solute carrier family 26 member 9; DIDS- and thiosulfate- sensitive anion exchanger mediating chloride, sulfate and oxalate transport. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSPTRP00000051283
symbol: MDM4
gene_biotype: protein_coding
description:
  Protein Mdm4; Inhibits p53- and p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Belongs to the MDM2/MDM4 family.


ensembl_gene_id: ENSPTRP00000051292
symbol: REN
gene_biotype: protein_coding
description:
  Renin; Renin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retention by the kidney.


ensembl_gene_id: ENSPTRP00000051373
symbol: ASPM
gene_biotype: protein_coding
description:
  Abnormal spindle-like microcephaly-associated protein homolog; Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a preferential role in regulating neurogenesis (By similarity).


ensembl_gene_id: ENSPTRP00000051571
symbol: HRH1
gene_biotype: protein_coding
description:
  Histamine H1 receptor; In peripheral tissues, the H1 subclass of histamine receptors mediates the contraction of smooth muscles, increase in capillary permeability due to contraction of terminal venules, and catecholamine release from adrenal medulla, as well as mediating neurotransmission in the central nervous system.


ensembl_gene_id: ENSPTRP00000051730
symbol: GBA
gene_biotype: protein_coding
description:
  Lysosomal acid glucosylceramidase; Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose. Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes. Through the production of ceramides, participates to the PKC-activated salvage pathway of ceramide formation. Also plays a role in cholesterol metabolism. May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol. [...]


ensembl_gene_id: ENSPTRP00000051923
symbol: HSD3B2
gene_biotype: protein_coding
description:
  Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2; Belongs to the 3-beta-HSD family.


ensembl_gene_id: ENSPTRP00000052121
symbol: YWHAB
gene_biotype: protein_coding
description:
  Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta; Belongs to the 14-3-3 family.


ensembl_gene_id: ENSPTRP00000052172
symbol: ACADM
gene_biotype: protein_coding
description:
  Medium-chain specific acyl-CoA dehydrogenase, mitochondrial; Acyl-CoA dehydrogenase specific for acyl chain lengths of 4 to 16 that catalyzes the initial step of fatty acid beta-oxidation. Utilizes the electron transfer flavoprotein (ETF) as an electron acceptor to transfer electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).


ensembl_gene_id: ENSPTRP00000052204
symbol: ADI1
gene_biotype: protein_coding
description:
  1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase; Catalyzes the formation of formate and 2-keto-4- methylthiobutyrate (KMTB) from 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene). Also down-regulates cell migration mediated by MMP14. Belongs to the acireductone dioxygenase (ARD) family.


ensembl_gene_id: ENSPTRP00000052392
symbol: CDS2
gene_biotype: protein_coding
description:
  Phosphatidate cytidylyltransferase; Provides CDP-diacylglycerol, an important precursor for the synthesis of phosphatidylinositol, phosphatidylglycerol, and cardiolipin.


ensembl_gene_id: ENSPTRP00000052800
symbol: HSPB7
gene_biotype: protein_coding
description:
  Heat shock 27kDa protein family, member 7 (Cardiovascular); Belongs to the small heat shock protein (HSP20) family.


ensembl_gene_id: ENSPTRP00000052810
symbol: RNASE2
gene_biotype: protein_coding
description:
  Non-secretory ribonuclease; This is a non-secretory ribonuclease. It is a pyrimidine specific nuclease with a slight preference for U. Cytotoxin and helminthotoxin. Possesses a wide variety of biological activities (By similarity).


ensembl_gene_id: ENSPTRP00000053005
symbol: PIGW
gene_biotype: protein_coding
description:
  Phosphatidylinositol-glycan biosynthesis class W protein; Probable acetyltransferase, which acetylates the inositol ring of phosphatidylinositol during biosynthesis of GPI-anchor.


ensembl_gene_id: ENSPTRP00000053072
symbol: HSPB9
gene_biotype: protein_coding
description:
  Heat shock protein family B (small) member 9; Belongs to the small heat shock protein (HSP20) family.


ensembl_gene_id: ENSPTRP00000053119
symbol: NBN
gene_biotype: protein_coding
description:
  Nibrin; Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double- strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis.


ensembl_gene_id: ENSPTRP00000053135
symbol: JPH1
gene_biotype: protein_coding
description:
  Junctophilin; Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels.


ensembl_gene_id: ENSPTRP00000053146
symbol: RRS1
gene_biotype: protein_coding
description:
  Ribosome biogenesis regulatory protein; Involved in ribosomal large subunit assembly. Belongs to the RRS1 family.


ensembl_gene_id: ENSPTRP00000053200
symbol: LSM1
gene_biotype: protein_coding
description:
  U6 snRNA-associated Sm-like protein LSm1; Plays a role in the degradation of histone mRNAs, the only eukaryotic mRNAs that are not polyadenylated. Probably also part of an LSm subunits-containing complex involved in the general process of mRNA degradation.


ensembl_gene_id: ENSPTRP00000053317
symbol: TRPC3
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily C member 3; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSPTRP00000053413
symbol: ATOH1
gene_biotype: protein_coding
description:
  Protein atonal homolog 1; Transcriptional regulator. Activates E box-dependent transcription in collaboration with TCF3/E47, but the activity is completely antagonized by the negative regulator of neurogenesis HES1. Plays a role in the differentiation of subsets of neural cells by activating E box-dependent transcription (By similarity).


ensembl_gene_id: ENSPTRP00000053447
symbol: AARS1
gene_biotype: protein_coding
description:
  Alanyl-tRNA synthetase; Catalyzes the attachment of alanine to tRNA(Ala) in a two- step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain. Belongs to the class-II aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSPTRP00000053467
symbol: DIS3
gene_biotype: protein_coding
description:
  DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease; Belongs to the RNR ribonuclease family.


ensembl_gene_id: ENSPTRP00000053597
symbol: PAN3
gene_biotype: protein_coding
description:
  PAN2-PAN3 deadenylation complex subunit PAN3; Regulatory subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenlyation-dependent mRNA deca [...]


ensembl_gene_id: ENSPTRP00000053994
symbol: MIS18A
gene_biotype: protein_coding
description:
  Protein Mis18-alpha; Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis.


ensembl_gene_id: ENSPTRP00000054083
symbol: RHBG
gene_biotype: protein_coding
description:
  Ammonium transporter Rh type B; Functions as a specific ammonium transporter; Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.


ensembl_gene_id: ENSPTRP00000054150
symbol: B3GAT1
gene_biotype: protein_coding
description:
  Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1; Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo- fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl-sphingomyelin was the most effective, followed by palmitoyl-sphingomyelin and lignoceroyl- sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regar [...]


ensembl_gene_id: ENSPTRP00000054216
symbol: ATM
gene_biotype: protein_coding
description:
  Serine-protein kinase ATM; Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]- Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and mo [...]


ensembl_gene_id: ENSPTRP00000054234
symbol: TAS2R41
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 41; 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: ENSPTRP00000054248
symbol: TAS2R40
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 40; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 (By similarity).


ensembl_gene_id: ENSPTRP00000054257
symbol: TAS2R38
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 38; 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: ENSPTRP00000054263
symbol: TAS2R4
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 4; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 (By similarity). In airway epithelial cells, binding of denatonium increases the intracellular calcium ion concentration and stimulates ciliary beat frequency (By similarity).


ensembl_gene_id: ENSPTRP00000054266
symbol: TAS2R3
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 3; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 (By similarity).


ensembl_gene_id: ENSPTRP00000054294
symbol: LILRA6
gene_biotype: protein_coding
description:
  Leukocyte immunoglobulin-like receptor subfamily A member 6; May act as receptor for class I MHC antigens.


ensembl_gene_id: ENSPTRP00000054309
symbol: SIGLEC8
gene_biotype: protein_coding
description:
  Sialic acid-binding Ig-like lectin 12; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface.


ensembl_gene_id: ENSPTRP00000054310
symbol: SIGLEC13
gene_biotype: protein_coding
description:
  Sialic acid-binding Ig-like lectin 13; Putative adhesion molecule that mediates sialic-acid dependent binding to cells; Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.


ensembl_gene_id: ENSPTRP00000054327
symbol: XYLT2
gene_biotype: protein_coding
description:
  Xylosyltransferase 2; Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN (By similarity). Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein (By similarity). Belongs to the glycosyltransferase 14 family. XylT subfamily.


ensembl_gene_id: ENSPTRP00000054330
symbol: CASP3
gene_biotype: protein_coding
description:
  Caspase-3 subunit p12; Involved in the activation cascade of caspases responsible for apoptosis execution. At the onset of apoptosis it proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a '216-Asp-|-Gly-217' bond. Cleaves and activates sterol regulatory element binding proteins (SREBPs) between the basic helix-loop-helix leucine zipper domain and the membrane attachment domain. Cleaves and activates caspase-6, -7 and -9. Involved in the cleavage of huntingtin. Triggers cell adhesion in sympathetic neurons through RET cleavage (By similarity). Belongs to the peptidase C14A family.


ensembl_gene_id: ENSPTRP00000054333
symbol: CDK5RAP2
gene_biotype: protein_coding
description:
  CDK5 regulatory subunit-associated protein 2; Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter. Together with EB1/MAPRE1, may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Regulates centrosomal maturation by recruitment of [...]


ensembl_gene_id: ENSPTRP00000054355
symbol: NDUFS8
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).


ensembl_gene_id: ENSPTRP00000054359
symbol: FUT2
gene_biotype: protein_coding
description:
  Galactoside 2-alpha-L-fucosyltransferase 2; Mediates the transfer of fucose to the terminal galactose on glycan chains of cell surface glycoproteins and glycolipids. The resulting epitope plays a role in cell-cell interaction including host- microbe interaction. Mediates interaction with intestinal microbiota influencing its composition. Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen, which is an essential substrate for the final step in the membrane-associated blood group antigen synthesis pathway.


ensembl_gene_id: ENSPTRP00000054373
symbol: PCDHGA4
gene_biotype: protein_coding
description:
  Protocadherin gamma-A4; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.


ensembl_gene_id: ENSPTRP00000054380
symbol: PCDHB10
gene_biotype: protein_coding
description:
  Protocadherin beta-10; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.


ensembl_gene_id: ENSPTRP00000054387
symbol: C5AR1
gene_biotype: protein_coding
description:
  C5a anaphylatoxin chemotactic receptor 1; Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a. The ligand interacts with at least two sites on the receptor: a high-affinity site on the extracellular N-terminus, and a second site in the transmembrane region which activates downstream signaling events. Receptor activation stimulates chemotaxis, granule enzyme release, intracellular calcium release and superoxide anion production.


ensembl_gene_id: ENSPTRP00000054411
symbol: APOE
gene_biotype: protein_coding
description:
  Apolipoprotein E; APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids. APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance. Apoliproteins are amphipathic molecules that interact both with lipids of the lipoprotein particle core and the aqueous environment of the plasma. As such, APOE associates with chylomicrons, chylomicron remnants, very low density lipoproteins (VLDL) and intermediate density  [...]


ensembl_gene_id: ENSPTRP00000054428
symbol: PLAUR
gene_biotype: protein_coding
description:
  Urokinase plasminogen activator surface receptor; Acts as a receptor for urokinase plasminogen activator. Plays a role in localizing and promoting plasmin formation. Mediates the proteolysis-independent signal transduction activation effects of U-PA. It is subject to negative-feedback regulation by U-PA which cleaves it into an inactive form (By similarity).


ensembl_gene_id: ENSPTRP00000054434
symbol: ZNF16
gene_biotype: protein_coding
description:
  Zinc finger protein 16; Acts as a transcriptional activator. Promotes cell proliferation by facilitating the cell cycle phase transition from the S to G2/M phase. Involved in both the hemin- and phorbol myristate acetate (PMA)-induced erythroid and megakaryocytic differentiation, respectively. Plays also a role as an inhibitor of cell apoptosis (By similarity).


ensembl_gene_id: ENSPTRP00000054464
symbol: ZSCAN21
gene_biotype: protein_coding
description:
  Zinc finger and SCAN domain-containing protein 21; Strong transcriptional activator; Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPTRP00000054494
symbol: SCNN1D
gene_biotype: protein_coding
description:
  Amiloride-sensitive sodium channel subunit delta; 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. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.


ensembl_gene_id: ENSPTRP00000054512
symbol: RHCG
gene_biotype: protein_coding
description:
  Ammonium transporter Rh type C; Functions as an electroneutral and bidirectional ammonium transporter. May regulate transepithelial ammonia secretion (By similarity); Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.


ensembl_gene_id: ENSPTRP00000054519
symbol: NFKBIL1
gene_biotype: protein_coding
description:
  NF-kappa-B inhibitor-like protein 1; Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon-regulatory factor (IRF) signaling pathways. Contributes to the negative regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli (By similarity).


ensembl_gene_id: ENSPTRP00000054521
symbol: DDX39B
gene_biotype: protein_coding
description:
  Spliceosome RNA helicase DDX39B; Involved in nuclear export of spliced and unspliced mRNA. Assembling component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pat [...]


ensembl_gene_id: ENSPTRP00000054529
symbol: SEMG2
gene_biotype: protein_coding
description:
  Semenogelin-2; Participates in the formation of a gel matrix (sperm coagulum) entrapping the accessory gland secretions and ejaculated spermatozoa.


ensembl_gene_id: ENSPTRP00000054532
symbol: CXCR6
gene_biotype: protein_coding
description:
  C-X-C chemokine receptor type 6; Receptor for the C-X-C chemokine CXCL16. Used as a coreceptor by SIVs and by strains of HIV-2 and m-tropic HIV-1.


ensembl_gene_id: ENSPTRP00000054548
symbol: LHX1
gene_biotype: protein_coding
description:
  LIM/homeobox protein Lhx1; Potential transcription factor. May play a role in early mesoderm formation and later in lateral mesoderm differentiation and neurogenesis (By similarity).


ensembl_gene_id: ENSPTRP00000054569
symbol: ADGRG1
gene_biotype: protein_coding
description:
  Adhesion G-protein coupled receptor G1; Receptor involved in cell adhesion and probably in cell-cell interactions. Mediates cell matrix adhesion in developing neurons and hematopoietic stem cells. Receptor for collagen III/COL3A1 in the developing brain and involved in regulation of cortical development, specifically in maintenance of the pial basement membrane integrity and in cortical lamination. Binding to the COL3A1 ligand inhibits neuronal migration and activates the RhoA pathway by coupling to GNA13 and possibly GNA12. Plays a role in the maintenance of hematopoietic stem cells a [...]


ensembl_gene_id: ENSPTRP00000054577
symbol: RPN2
gene_biotype: protein_coding
description:
  Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the en [...]


ensembl_gene_id: ENSPTRP00000054619
symbol: TRIM40
gene_biotype: protein_coding
description:
  Tripartite motif-containing protein 40; May function as an E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway. Promotes neddylation of IKBKG/NEMO, stabilizing NFKBIA, and inhibiting of NF-kappaB nuclear translocation and activity (By similarity); Belongs to the TRIM/RBCC family.


ensembl_gene_id: ENSPTRP00000054621
symbol: VN1R4
gene_biotype: protein_coding
description:
  Vomeronasal type-1 receptor 3; Putative pheromone receptor; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSPTRP00000054635
symbol: PATR-F
gene_biotype: protein_coding
description:
  Patr class I histocompatibility antigen, CH28 alpha chain; Involved in the presentation of foreign antigens to the immune system.


ensembl_gene_id: ENSPTRP00000054644
symbol: CTF2
gene_biotype: protein_coding
description:
  Cardiotrophin-2; May have an important role in neuronal precursor development and maturation; Belongs to the IL-6 superfamily.


ensembl_gene_id: ENSPTRP00000054685
symbol: HOXD8
gene_biotype: protein_coding
description:
  Homeobox protein Hox-D8; 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.


ensembl_gene_id: ENSPTRP00000054702
symbol: TAS2R30
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 30; 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: ENSPTRP00000054713
symbol: TAS2R50
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 50; 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: ENSPTRP00000054718
symbol: TAS2R20
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 20; 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: ENSPTRP00000054719
symbol: OCLN
gene_biotype: protein_coding
description:
  Occludin; May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. Belongs to the ELL/occludin family.


ensembl_gene_id: ENSPTRP00000054725
symbol: TAS2R14
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 14; 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: ENSPTRP00000054728
symbol: TAS2R13
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 13; 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: ENSPTRP00000054731
symbol: TAS2R10
gene_biotype: protein_coding
description:
  Taste receptor type 2 member 10; 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: ENSPTRP00000054732
symbol: CHRNB3
gene_biotype: protein_coding
description:
  Neuronal acetylcholine receptor subunit beta-3; 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.


ensembl_gene_id: ENSPTRP00000054754
symbol: KLRC3
gene_biotype: protein_coding
description:
  NKG2-E 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: ENSPTRP00000054758
symbol: KLRK1-2
gene_biotype: protein_coding
description:
  NKG2-F type II integral membrane protein; May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells.


ensembl_gene_id: ENSPTRP00000054792
symbol: C1R
gene_biotype: protein_coding
description:
  Complement C1r subcomponent heavy chain; C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system; Belongs to the peptidase S1 family.


ensembl_gene_id: ENSPTRP00000054833
symbol: CD4
gene_biotype: protein_coding
description:
  T-cell surface glycoprotein CD4; Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class II molecule:peptide complex. The antigens presented by class II peptides are derived from extracellular proteins while class I peptides are derived from cytosolic proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class II presented by antigen presenting cells (APCs). In turn, recruits the Src kina [...]


ensembl_gene_id: ENSPTRP00000054840
symbol: CLEC4M
gene_biotype: protein_coding
description:
  C-type lectin domain family 4 member M; Probable pathogen-recognition receptor involved in peripheral immune surveillance in liver. May mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. Probably recognizes in a calcium-dependent manner high mannose N-linked oligosaccharides in a variety of pathogen antigens. Is a receptor for ICAM3, probably by binding to mannose-like carbohydrates (By similarity).


ensembl_gene_id: ENSPTRP00000054896
symbol: RLN1
gene_biotype: protein_coding
description:
  Relaxin A chain; Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix; Belongs to the insulin family.


ensembl_gene_id: ENSPTRP00000054902
symbol: FUT3
gene_biotype: protein_coding
description:
  Galactoside 3(4)-L-fucosyltransferase; May catalyze alpha-1,3 and alpha-1,4 glycosidic linkages involved in the expression of sialyl Lewis X and Lewis X/SSEA-1 antigens. It may be involved in blood group Lewis determination (By similarity). Also acts on the corresponding 1,4-galactosyl derivative, forming 1,3-L-fucosyl links.


ensembl_gene_id: ENSPTRP00000054996
symbol: MB
gene_biotype: protein_coding
description:
  Myoglobin; Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.


ensembl_gene_id: ENSPTRP00000055005
symbol: NDUFS7
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSPTRP00000055013
symbol: USP14
gene_biotype: protein_coding
description:
  Ubiquitin carboxyl-terminal hydrolase 14; Proteasome-associated deubiquitinase which releases ubiquitin from the proteasome targeted ubiquitinated proteins. Ensures the regeneration of ubiquitin at the proteasome. Is a reversibly associated subunit of the proteasome and a large fraction of proteasome-free protein exists within the cell. Required for the degradation of the chemokine receptor CXCR4 which is critical for CXCL12-induced cell chemotaxis. Serves also as a physiological inhibitor of endoplasmic reticulum-associated degradation (ERAD) under the non-stressed condition by inhibi [...]


ensembl_gene_id: ENSPTRP00000055057
symbol: MRAP
gene_biotype: protein_coding
description:
  Melanocortin-2 receptor accessory protein; Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Required both for MC2R trafficking to the cell surface of adrenal cells and for signaling in response to corticotropin (ACTH). May be involved in the intracellular trafficking pathways in adipocyte cells (By similarity). Belongs to the MRAP family.


ensembl_gene_id: ENSPTRP00000055141
symbol: LOC456645
gene_biotype: protein_coding
description:
  RH-like protein IIR; May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane; Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.


ensembl_gene_id: ENSPTRP00000055157
symbol: ZDHHC5
gene_biotype: protein_coding
description:
  Palmitoyltransferase ZDHHC5; Palmitoyl acyltransferase for the G-protein coupled receptor SSTR5 and for FLOT2; Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily.


ensembl_gene_id: ENSPTRP00000055303
symbol: ETFDH
gene_biotype: protein_coding
description:
  Electron transfer flavoprotein-ubiquinone oxidoreductase; Accepts electrons from ETF and reduces ubiquinone.


ensembl_gene_id: ENSPTRP00000055314
symbol: TCP10L
gene_biotype: protein_coding
description:
  T-complex protein 10A homolog 1; May be involved in transcriptional regulation. Has in vitro transcription inhibition activity.


ensembl_gene_id: ENSPTRP00000055315
symbol: GRIN2A
gene_biotype: protein_coding
description:
  Glutamate receptor ionotropic, NMDA 2A; Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition; channels containing GRIN1 and GRIN2A have higher sensitivity to glutamate and faster kineti [...]


ensembl_gene_id: ENSPTRP00000055316
symbol: PEG3
gene_biotype: protein_coding
description:
  Paternally-expressed gene 3 protein; Induces apoptosis in cooperation with SIAH1A. Acts as a mediator between p53/TP53 and BAX in a neuronal death pathway that is activated by DNA damage. Acts synergistically with TRAF2 and inhibits TNF induced apoptosis through activation of NF-kappa-B (By similarity). Belongs to the krueppel C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSPTRP00000055744
symbol: A4GALT
gene_biotype: protein_coding
description:
  Lactosylceramide 4-alpha-galactosyltransferase; Catalyzes the transfer of galactose from UDP-alpha-D- galactose to lactosylceramide/beta-D-galactosyl-(1->4)-beta-D-glucosyl- (1<->1)-ceramide(d18:1(4E)) to produce globotriaosylceramide/globoside Gb3Cer (d18:1(4E)). Also able to transfer galactose to galactosylceramide/beta-D-Gal-(1<->1')-Cer. Globoside Gb3Cer is a glycosphingolipid of the globo serie, one of the major types of neutral root structures of glycosphingolipids, that constitute a significant portion of mammalian cell membranes; Belongs to the glycosyltransferase 32 family.


ensembl_gene_id: ENSPTRP00000055966
symbol: MSX1
gene_biotype: protein_coding
description:
  Homeobox protein MSX-1; Acts as a transcriptional repressor. May play a role in limb- pattern formation. Acts in cranofacial development and specifically in odontogenesis (By similarity).


ensembl_gene_id: ENSPTRP00000055998
symbol: SCG5
gene_biotype: protein_coding
description:
  Neuroendocrine protein 7B2; Acts as a molecular chaperone for PCSK2/PC2, preventing its premature activation in the regulated secretory pathway. Binds to inactive PCSK2 in the endoplasmic reticulum and facilitates its transport from there to later compartments of the secretory pathway where it is proteolytically matured and activated. Also required for cleavage of PCSK2 but does not appear to be involved in its folding. Plays a role in regulating pituitary hormone secretion. The C-terminal peptide inhibits PCSK2 in vitro (By similarity).


ensembl_gene_id: ENSPTRP00000056162
symbol: GPC2
gene_biotype: protein_coding
description:
  GPC2 isoform 1; Cell surface proteoglycan that bears heparan sulfate. Belongs to the glypican family.


ensembl_gene_id: ENSPTRP00000056253
symbol: PABPC5
gene_biotype: protein_coding
description:
  Polyadenylate-binding protein 5; Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo (By similarity).


ensembl_gene_id: ENSPTRP00000056355
symbol: SLC47A1
gene_biotype: protein_coding
description:
  Multidrug and toxin extrusion protein; Belongs to the multi antimicrobial extrusion (MATE) (TC 2.A.66.1) family.


ensembl_gene_id: ENSPTRP00000056399
symbol: PATR-G
gene_biotype: protein_coding
description:
  Patr class I histocompatibility antigen, alpha chain G; Involved in the presentation of foreign antigens to the immune system.


ensembl_gene_id: ENSPTRP00000056402
symbol: VARS2
gene_biotype: protein_coding
description:
  Valyl-tRNA synthetase 2, mitochondrial (Putative); Belongs to the class-I aminoacyl-tRNA synthetase family.


