# geneInfo

ensembl_gene_id: ENSTTRP00000000009
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: ENSTTRP00000000045
symbol: KIF20B
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF20B; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000000083
symbol: USP33
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: ENSTTRP00000000084
symbol: GLRA2
gene_biotype: protein_coding
description:
  Glycine receptor subunit alpha-2 isoform X1; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000000098
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: ENSTTRP00000000135
symbol: GATC
gene_biotype: protein_coding
description:
  Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial; Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). Belongs to the GatC family.


ensembl_gene_id: ENSTTRP00000000138
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: ENSTTRP00000000140
symbol: TAT
gene_biotype: protein_coding
description:
  Tyrosine aminotransferase; Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate.


ensembl_gene_id: ENSTTRP00000000144
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: ENSTTRP00000000158
symbol: EHD3
gene_biotype: protein_coding
description:
  EH domain-containing protein 3; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSTTRP00000000167
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: ENSTTRP00000000198
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: ENSTTRP00000000215
symbol: HGF
gene_biotype: protein_coding
description:
  Hepatocyte growth factor; Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types. Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerization. Belongs to the peptidase S1 family. Plasminogen subfamily.


ensembl_gene_id: ENSTTRP00000000221
symbol: GPR31
gene_biotype: protein_coding
description:
  12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSTTRP00000000229
symbol: BPGM
gene_biotype: protein_coding
description:
  Phosphoglycerate mutase; Belongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily.


ensembl_gene_id: ENSTTRP00000000237
symbol: SLC5A1
gene_biotype: protein_coding
description:
  Sodium/glucose cotransporter 1 isoform X1; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.


ensembl_gene_id: ENSTTRP00000000271
symbol: SLC9A1
gene_biotype: protein_coding
description:
  Sodium/hydrogen exchanger; Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.


ensembl_gene_id: ENSTTRP00000000326
symbol: ADCYAP1R1
gene_biotype: protein_coding
description:
  Pituitary adenylate cyclase-activating polypeptide type I receptor isoform X1; Belongs to the G-protein coupled receptor 2 family.


ensembl_gene_id: ENSTTRP00000000344
symbol: DUSP13
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase 13 isoform X2; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSTTRP00000000372
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: ENSTTRP00000000394
symbol: PTPN3
gene_biotype: protein_coding
description:
  Tyrosine-protein phosphatase non-receptor type; May act at junctions between the membrane and the cytoskeleton.


ensembl_gene_id: ENSTTRP00000000398
symbol: KCNK5
gene_biotype: protein_coding
description:
  Potassium channel subfamily K member 5 isoform X1; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSTTRP00000000401
symbol: KIF6
gene_biotype: protein_coding
description:
  Kinesin-like protein; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000000402
symbol: APOOL
gene_biotype: protein_coding
description:
  MICOS complex subunit; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane.


ensembl_gene_id: ENSTTRP00000000408
symbol: TRDMT1
gene_biotype: protein_coding
description:
  tRNA (Cytosine(38)-C(5))-methyltransferase isoform X1; Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.


ensembl_gene_id: ENSTTRP00000000411
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: ENSTTRP00000000450
symbol: GRK3
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: ENSTTRP00000000451
symbol: MYO18B
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: unconventional myosin-XVIIIb; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000000461
symbol: ALDH9A1
gene_biotype: protein_coding
description:
  4-trimethylaminobutyraldehyde dehydrogenase isoform X1; Belongs to the aldehyde dehydrogenase family.


ensembl_gene_id: ENSTTRP00000000462
symbol: TMCO1
gene_biotype: protein_coding
description:
  Calcium load-activated calcium channel; Calcium-selective channel required to prevent calcium stores from overfilling; Belongs to the TMCO1 family.


ensembl_gene_id: ENSTTRP00000000502
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: ENSTTRP00000000515
symbol: BDNF
gene_biotype: protein_coding
description:
  Brain-derived neurotrophic factor; During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS.


ensembl_gene_id: ENSTTRP00000000547
symbol: DIMT1
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: ENSTTRP00000000563
symbol: SLC25A46
gene_biotype: protein_coding
description:
  Solute carrier family 25 member 46 isoform X2; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000000612
symbol: GUCY1A1
gene_biotype: protein_coding
description:
  Guanylate cyclase soluble subunit alpha-3; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.


ensembl_gene_id: ENSTTRP00000000613
symbol: GUCY1B1
gene_biotype: protein_coding
description:
  Guanylate cyclase soluble subunit beta-1; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.


ensembl_gene_id: ENSTTRP00000000614
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: ENSTTRP00000000620
symbol: VMA21
gene_biotype: protein_coding
description:
  Vacuolar ATPase assembly integral membrane protein VMA21; Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum.


ensembl_gene_id: ENSTTRP00000000623
symbol: GRIN3A
gene_biotype: protein_coding
description:
  Glutamate receptor ionotropic, NMDA 3A; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family.


ensembl_gene_id: ENSTTRP00000000641
symbol: MX1
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: interferon-induced GTP-binding protein Mx1; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSTTRP00000000650
symbol: GRIK1
gene_biotype: protein_coding
description:
  Glutamate receptor ionotropic, kainate 1; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family.


ensembl_gene_id: ENSTTRP00000000656
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: ENSTTRP00000000658
symbol: IREB2
gene_biotype: protein_coding
description:
  Iron-responsive element-binding protein 2 isoform X1; Belongs to the aconitase/IPM isomerase family.


ensembl_gene_id: ENSTTRP00000000677
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: ENSTTRP00000000711
symbol: LOC101333672
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: ENSTTRP00000000721
symbol: TSHR
gene_biotype: protein_coding
description:
  Thyrotropin receptor; Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin. Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Plays a central role in controlling thyroid cell metabolism. Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.


ensembl_gene_id: ENSTTRP00000000733
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: ENSTTRP00000000740
symbol: GNG5
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: ENSTTRP00000000747
symbol: SDR9C7
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: short-chain dehydrogenase/reductase family 9C member 7; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000000752
symbol: IDH2
gene_biotype: protein_coding
description:
  Isocitrate dehydrogenase [NADP]; Belongs to the isocitrate and isopropylmalate dehydrogenases family.


ensembl_gene_id: ENSTTRP00000000765
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: ENSTTRP00000000780
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: ENSTTRP00000000815
symbol: DSG1
gene_biotype: protein_coding
description:
  Desmoglein-1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSTTRP00000000836
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: ENSTTRP00000000838
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: ENSTTRP00000000842
symbol: PRIM2
gene_biotype: protein_coding
description:
  DNA primase large subunit; Regulatory subunit of the DNA primase complex and component of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which play an essential role in the initiation of DNA synthesis. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands.


ensembl_gene_id: ENSTTRP00000000864
symbol: IL7
gene_biotype: protein_coding
description:
  Interleukin-7; Hematopoietic growth factor capable of stimulating the proliferation of lymphoid progenitors. It is important for proliferation during certain stages of B-cell maturation. Belongs to the IL-7/IL-9 family.


ensembl_gene_id: ENSTTRP00000000875
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: ENSTTRP00000000907
symbol: CAMK2D
gene_biotype: protein_coding
description:
  Calcium/calmodulin-dependent protein kinase type II subunit delta isoform X4; Belongs to the protein kinase superfamily.


ensembl_gene_id: ENSTTRP00000000931
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: ENSTTRP00000000935
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: ENSTTRP00000000956
symbol: KATNAL2
gene_biotype: protein_coding
description:
  Katanin p60 ATPase-containing subunit A-like 2; Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization of cellular microtubule arrays.


ensembl_gene_id: ENSTTRP00000000962
symbol: LSM8
gene_biotype: protein_coding
description:
  U6 snRNA-associated Sm-like protein LSm8; Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA.


ensembl_gene_id: ENSTTRP00000000966
symbol: LOC109552244
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: olfactory receptor 52I1-like; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSTTRP00000000971
symbol: CPT2
gene_biotype: protein_coding
description:
  Carnitine O-palmitoyltransferase 2, mitochondrial isoform X1; Belongs to the carnitine/choline acetyltransferase family.


ensembl_gene_id: ENSTTRP00000000996
symbol: PPIP5K2
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: ENSTTRP00000001002
symbol: MAP4K3
gene_biotype: protein_coding
description:
  Non-specific serine/threonine protein kinase; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.


ensembl_gene_id: ENSTTRP00000001009
symbol: SLC25A26
gene_biotype: protein_coding
description:
  S-adenosylmethionine mitochondrial carrier protein isoform X1; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000001013
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: ENSTTRP00000001055
symbol: ATP10A
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: ENSTTRP00000001071
symbol: MED17
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 17; 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: ENSTTRP00000001082
symbol: GALNT18
gene_biotype: protein_coding
description:
  Polypeptide N-acetylgalactosaminyltransferase 18; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.


ensembl_gene_id: ENSTTRP00000001084
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: ENSTTRP00000001099
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: ENSTTRP00000001114
symbol: METTL16
gene_biotype: protein_coding
description:
  U6 small nuclear RNA (adenine-(43)-N(6))-methyltransferase; RNA N6-methyltransferase that methylates adenosine residues of a subset of RNAs and plays a key role in S-adenosyl-L-methionine homeostasis by regulating expression of MAT2A transcripts. Able to N6- methylate a subset of mRNAs and U6 small nuclear RNAs (U6 snRNAs). In contrast to the METTL3-METTL14 heterodimer, only able to methylate a limited number of RNAs: requires both a 5'UACAGAGAA-3' nonamer sequence and a specific RNA structure. In presence of S-adenosyl-L-methionine, binds the 3'-UTR region of MAT2A mRNA and specifical [...]


ensembl_gene_id: ENSTTRP00000001115
symbol: PAFAH1B1
gene_biotype: protein_coding
description:
  Platelet-activating factor acetylhydrolase IB subunit alpha; Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ven [...]


ensembl_gene_id: ENSTTRP00000001118
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: ENSTTRP00000001121
symbol: SNRPG
gene_biotype: protein_coding
description:
  Small nuclear ribonucleoprotein G; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. As part of the U7 snRNP it is involved in histone 3'-end processing.


ensembl_gene_id: ENSTTRP00000001128
symbol: TRPV1
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily V member 1 isoform X1; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSTTRP00000001177
symbol: FT
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: ENSTTRP00000001179
symbol: GYS1
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: ENSTTRP00000001202
symbol: PYGL
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: ENSTTRP00000001208
symbol: DPH2
gene_biotype: protein_coding
description:
  2-(3-amino-3-carboxypropyl)histidine synthase subunit 2; Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2.


ensembl_gene_id: ENSTTRP00000001210
symbol: ATP6V0B
gene_biotype: protein_coding
description:
  V-type proton ATPase 21 kDa proteolipid subunit; Belongs to the V-ATPase proteolipid subunit family.


ensembl_gene_id: ENSTTRP00000001217
symbol: SLC25A11
gene_biotype: protein_coding
description:
  Mitochondrial 2-oxoglutarate/malate carrier protein isoform X1; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000001235
symbol: KCNC4
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel subfamily C member 4 isoform X2; Belongs to the potassium channel family.


ensembl_gene_id: ENSTTRP00000001254
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: ENSTTRP00000001372
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: ENSTTRP00000001384
symbol: MED16
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 16; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSTTRP00000001391
symbol: GRIN3B
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: glutamate receptor ionotropic, NMDA 3B-like; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family.


ensembl_gene_id: ENSTTRP00000001394
symbol: CNN2
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: ENSTTRP00000001415
symbol: CIT
gene_biotype: protein_coding
description:
  Citron Rho-interacting kinase; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.


ensembl_gene_id: ENSTTRP00000001417
symbol: PRMT5
gene_biotype: protein_coding
description:
  Protein arginine N-methyltransferase 5; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA); Belongs to the class I-like SAM-binding methyltransferase superfamily.


ensembl_gene_id: ENSTTRP00000001427
symbol: HS6ST2
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: ENSTTRP00000001436
symbol: SLC24A4
gene_biotype: protein_coding
description:
  Sodium/potassium/calcium exchanger 4 isoform X2; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSTTRP00000001468
symbol: SCN3A
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: ENSTTRP00000001490
symbol: DUS1L
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: ENSTTRP00000001496
symbol: TRPC3
gene_biotype: protein_coding
description:
  Short transient receptor potential channel 3 isoform X1; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSTTRP00000001502
symbol: GABRG2
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit gamma-2 isoform X1; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000001534
symbol: MED14
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 14; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSTTRP00000001539
symbol: ENTPD6
gene_biotype: protein_coding
description:
  Ectonucleoside triphosphate diphosphohydrolase 6 isoform X1; Belongs to the GDA1/CD39 NTPase family.


ensembl_gene_id: ENSTTRP00000001559
symbol: COPZ1
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: ENSTTRP00000001561
symbol: SEPT14
gene_biotype: protein_coding
description:
  Septin-14 isoform X2; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSTTRP00000001566
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: ENSTTRP00000001568
symbol: SLC25A33
gene_biotype: protein_coding
description:
  Solute carrier family 25 member 33 isoform X1; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000001581
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: ENSTTRP00000001604
symbol: MINPP1
gene_biotype: protein_coding
description:
  Multiple inositol polyphosphate phosphatase 1 isoform X1; Belongs to the histidine acid phosphatase family.


ensembl_gene_id: ENSTTRP00000001631
symbol: HSD17B3
gene_biotype: protein_coding
description:
  Testosterone 17-beta-dehydrogenase 3; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000001639
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: ENSTTRP00000001644
symbol: ENY2
gene_biotype: protein_coding
description:
  Transcription and mRNA export factor ENY2; Involved in mRNA export coupled transcription activation by association with both the TREX-2 and the SAGA complexes. The transcription regulatory histone acetylation (HAT) complex SAGA is a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates to a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for trans [...]


ensembl_gene_id: ENSTTRP00000001648
symbol: EBAG9
gene_biotype: protein_coding
description:
  Receptor-binding cancer antigen expressed on SiSo cells; May participate in suppression of cell proliferation and induces apoptotic cell death through activation of interleukin-1-beta converting enzyme (ICE)-like proteases.


ensembl_gene_id: ENSTTRP00000001696
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: ENSTTRP00000001702
symbol: ELOF1
gene_biotype: protein_coding
description:
  Transcription elongation factor 1 homolog; Transcription elongation factor implicated in the maintenance of proper chromatin structure in actively transcribed regions. Belongs to the ELOF1 family.


ensembl_gene_id: ENSTTRP00000001714
symbol: PIGM
gene_biotype: protein_coding
description:
  GPI mannosyltransferase 1; Mannosyltransferase involved in glycosylphosphatidylinositol- anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN- acyl-PI during GPI precursor assembly.


ensembl_gene_id: ENSTTRP00000001719
symbol: CHRNA4
gene_biotype: protein_coding
description:
  Neuronal acetylcholine receptor subunit alpha-4; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000001724
symbol: CASQ1
gene_biotype: protein_coding
description:
  Calsequestrin; Calsequestrin is a high-capacity, moderate affinity, calcium- binding protein and thus acts as an internal calcium store in muscle.


ensembl_gene_id: ENSTTRP00000001729
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: ENSTTRP00000001733
symbol: ST6GALNAC3
gene_biotype: protein_coding
description:
  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSTTRP00000001737
symbol: DUSP22
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase 22 isoform X5; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSTTRP00000001740
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: ENSTTRP00000001742
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: ENSTTRP00000001747
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: ENSTTRP00000001752
symbol: AVPR1A
gene_biotype: protein_coding
description:
  Vasopressin V1a receptor; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system. Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.


ensembl_gene_id: ENSTTRP00000001778
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: ENSTTRP00000001780
symbol: TTR
gene_biotype: protein_coding
description:
  Transthyretin; Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.


ensembl_gene_id: ENSTTRP00000001792
symbol: DHODH
gene_biotype: protein_coding
description:
  Dihydroorotate dehydrogenase (quinone), mitochondrial; Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily.


ensembl_gene_id: ENSTTRP00000001793
symbol: LOC101323115
gene_biotype: protein_coding
description:
  Haptoglobin; As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine. Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to prevent kidney damage. Haptoglobin also acts as an antioxidant, has antibacterial activity and plays a role in modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are rapidly cleared by the macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells through an endocytic lysosomal degradation pathway.


ensembl_gene_id: ENSTTRP00000001803
symbol: EIF2B2
gene_biotype: protein_coding
description:
  Translation initiation factor eIF-2B subunit beta; Belongs to the eIF-2B alpha/beta/delta subunits family.


ensembl_gene_id: ENSTTRP00000001804
symbol: PRKCI
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: ENSTTRP00000001818
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: ENSTTRP00000001823
symbol: VPS28
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 28 homolog; Component of the ESCRT-I complex (endosomal sorting complex required for transport I), a regulator of vesicular trafficking process.


ensembl_gene_id: ENSTTRP00000001850
symbol: TNK2
gene_biotype: protein_coding
description:
  Activated CDC42 kinase 1 isoform X4; Belongs to the protein kinase superfamily. Tyr protein kinase family.


ensembl_gene_id: ENSTTRP00000001856
symbol: LOC101334300
gene_biotype: protein_coding
description:
  NADH-cytochrome b5 reductase; Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.


ensembl_gene_id: ENSTTRP00000001858
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: ENSTTRP00000001860
symbol: NDUFS6
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSTTRP00000001889
symbol: EIF1AX
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 1A, X-chromosomal; Seems to be required for maximal rate of protein biosynthesis. Enhances ribosome dissociation into subunits and stabilizes the binding of the initiator Met-tRNA(I) to 40 S ribosomal subunits.


ensembl_gene_id: ENSTTRP00000001895
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: ENSTTRP00000001951
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: ENSTTRP00000001967
symbol: CLP1
gene_biotype: protein_coding
description:
  Polyribonucleotide 5'-hydroxyl-kinase Clp1; Polynucleotide kinase that can phosphorylate the 5'-hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA:RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA:RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3'-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5'-terminus of the tRNA 3'-exon during tRNA splicing; thi [...]


ensembl_gene_id: ENSTTRP00000001970
symbol: MED19
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 19; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSTTRP00000001984
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: ENSTTRP00000001988
symbol: ELOVL5
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 5; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate to the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involv [...]


ensembl_gene_id: ENSTTRP00000001992
symbol: BBS5
gene_biotype: protein_coding
description:
  Bardet-Biedl syndrome 5 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. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the gua [...]


ensembl_gene_id: ENSTTRP00000002011
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: ENSTTRP00000002035
symbol: ATE1
gene_biotype: protein_coding
description:
  Arginyl-tRNA--protein transferase 1; Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway. Belongs to the R-transferase family.


ensembl_gene_id: ENSTTRP00000002061
symbol: CDIPT
gene_biotype: protein_coding
description:
  CDP-diacylglycerol--inositol 3-phosphatidyltransferase; Belongs to the CDP-alcohol phosphatidyltransferase class-I family.


ensembl_gene_id: ENSTTRP00000002128
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: ENSTTRP00000002135
symbol: CD40LG
gene_biotype: protein_coding
description:
  CD40 ligand; Cytokine that acts as a ligand to CD40/TNFRSF5. Costimulates T-cell proliferation and cytokine production. Involved in immunoglobulin class switching.


ensembl_gene_id: ENSTTRP00000002149
symbol: PPIL1
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: ENSTTRP00000002162
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: ENSTTRP00000002180
symbol: HSD17B13
gene_biotype: protein_coding
description:
  17-beta-hydroxysteroid dehydrogenase 13 isoform X1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000002182
symbol: BLOC1S6
gene_biotype: protein_coding
description:
  Biogenesis of lysosome-related organelles complex 1 subunit 6; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particular [...]


ensembl_gene_id: ENSTTRP00000002197
symbol: MRPS15
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: 28S ribosomal protein S15, mitochondrial; Belongs to the universal ribosomal protein uS15 family.


ensembl_gene_id: ENSTTRP00000002204
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: ENSTTRP00000002209
symbol: B3GAT1
gene_biotype: protein_coding
description:
  Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase; Belongs to the glycosyltransferase 43 family.


ensembl_gene_id: ENSTTRP00000002219
symbol: PRMT6
gene_biotype: protein_coding
description:
  Protein arginine N-methyltransferase 6; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSTTRP00000002224
symbol: PTK2B
gene_biotype: protein_coding
description:
  Protein-tyrosine kinase 2-beta isoform X2; Belongs to the protein kinase superfamily. Tyr protein kinase family.


ensembl_gene_id: ENSTTRP00000002226
symbol: ADSS
gene_biotype: protein_coding
description:
  Adenylosuccinate synthetase isozyme 2; Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first commited step in the biosynthesis of AMP from IMP.


ensembl_gene_id: ENSTTRP00000002245
symbol: SLC2A13
gene_biotype: protein_coding
description:
  Proton myo-inositol cotransporter; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSTTRP00000002282
symbol: RHBG
gene_biotype: protein_coding
description:
  Ammonium transporter Rh type B isoform X1; Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.


ensembl_gene_id: ENSTTRP00000002294
symbol: KDR
gene_biotype: protein_coding
description:
  Vascular endothelial growth factor receptor 2 isoform X1; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSTTRP00000002354
symbol: DUSP19
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase 19 isoform X1; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSTTRP00000002355
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: ENSTTRP00000002357
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: ENSTTRP00000002360
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: ENSTTRP00000002389
symbol: EXOC6B
gene_biotype: protein_coding
description:
  Exocyst complex component; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.


ensembl_gene_id: ENSTTRP00000002393
symbol: EHD4
gene_biotype: protein_coding
description:
  EH domain-containing protein 4; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSTTRP00000002420
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: ENSTTRP00000002436
symbol: IL5
gene_biotype: protein_coding
description:
  Interleukin-5; Factor that induces terminal differentiation of late- developing B-cells to immunoglobulin secreting cells.


ensembl_gene_id: ENSTTRP00000002440
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; Belongs to the IL- [...]


ensembl_gene_id: ENSTTRP00000002446
symbol: SEPTIN8
gene_biotype: protein_coding
description:
  Septin-6 isoform X5; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSTTRP00000002456
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: ENSTTRP00000002472
symbol: DNAJC10
gene_biotype: protein_coding
description:
  DnaJ homolog subfamily C member 10; Endoplasmic reticulum disulfide reductase involved both in the correct folding of proteins and degradation of misfolded proteins.


ensembl_gene_id: ENSTTRP00000002478
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: ENSTTRP00000002486
symbol: SNRPD1
gene_biotype: protein_coding
description:
  Small nuclear ribonucleoprotein Sm D1; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions through non-specific electrostatic contacts with RNA.


ensembl_gene_id: ENSTTRP00000002493
symbol: CDC42BPB
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase MRCK beta isoform X2; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.


ensembl_gene_id: ENSTTRP00000002524
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: ENSTTRP00000002553
symbol: MED21
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 21; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSTTRP00000002574
symbol: MST1
gene_biotype: protein_coding
description:
  Hepatocyte growth factor-like protein isoform X1; Belongs to the peptidase S1 family. Plasminogen subfamily.


ensembl_gene_id: ENSTTRP00000002625
symbol: GABRA6
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit alpha-6; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000002636
symbol: FLT3
gene_biotype: protein_coding
description:
  Receptor-type tyrosine-protein kinase FLT3; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSTTRP00000002637
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: ENSTTRP00000002644
symbol: LOC101324147
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: keratin, type II cuticular Hb6-like; Belongs to the intermediate filament family.


ensembl_gene_id: ENSTTRP00000002648
symbol: LOC109552089
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: keratin, type II cuticular Hb2-like; Belongs to the intermediate filament family.


ensembl_gene_id: ENSTTRP00000002656
symbol: LOC101322971
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: keratin, type II cytoskeletal 6A-like; Belongs to the intermediate filament family.


ensembl_gene_id: ENSTTRP00000002683
symbol: MYO7A
gene_biotype: protein_coding
description:
  Unconventional myosin-VIIa; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000002684
symbol: ATP6V0D2
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: ENSTTRP00000002700
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: ENSTTRP00000002703
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: ENSTTRP00000002723
symbol: FABP2
gene_biotype: protein_coding
description:
  Fatty acid-binding protein, intestinal; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSTTRP00000002749
symbol: ATP1B4
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: ENSTTRP00000002753
symbol: ELP3
gene_biotype: protein_coding
description:
  Elongator complex protein 3; Catalytic tRNA acetyltransferase subunit of the RNA polymerase II elongator complex, which is a component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation.


ensembl_gene_id: ENSTTRP00000002767
symbol: ATP2C1
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: ENSTTRP00000002777
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: ENSTTRP00000002782
symbol: PIK3C2G
gene_biotype: protein_coding
description:
  Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma isoform X3; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSTTRP00000002797
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: ENSTTRP00000002811
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: ENSTTRP00000002816
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: ENSTTRP00000002850
symbol: MAP2K5
gene_biotype: protein_coding
description:
  Dual specificity mitogen-activated protein kinase kinase 5 isoform X1; Belongs to the protein kinase superfamily.


ensembl_gene_id: ENSTTRP00000002855
symbol: PIK3CD
gene_biotype: protein_coding
description:
  Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSTTRP00000002858
symbol: OPA1
gene_biotype: protein_coding
description:
  Dynamin-like 120 kDa protein, mitochondrial isoform X1; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSTTRP00000002865
symbol: KIF1B
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF1B isoform X2; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000002867
symbol: PGD
gene_biotype: protein_coding
description:
  6-phosphogluconate dehydrogenase, decarboxylating; Catalyzes the oxidative decarboxylation of 6-phosphogluconate to ribulose 5-phosphate and CO(2), with concomitant reduction of NADP to NADPH.


ensembl_gene_id: ENSTTRP00000002880
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: ENSTTRP00000002929
symbol: PIK3CG
gene_biotype: protein_coding
description:
  Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSTTRP00000002974
symbol: BCCIP
gene_biotype: protein_coding
description:
  BRCA2 and CDKN1A-interacting protein; May promote cell cycle arrest by enhancing the inhibition of CDK2 activity by CDKN1A. May be required for repair of DNA damage by homologous recombination in conjunction with BRCA2. May not be involved in non-homologous end joining (NHEJ); Belongs to the BCP1 family.


ensembl_gene_id: ENSTTRP00000002977
symbol: SLC2A1
gene_biotype: protein_coding
description:
  Solute carrier family 2, facilitated glucose transporter member 1 isoform X1; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSTTRP00000002979
symbol: DNMT1
gene_biotype: protein_coding
description:
  DNA (Cytosine-5)-methyltransferase 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.


ensembl_gene_id: ENSTTRP00000003027
symbol: LOC109550911
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: ENSTTRP00000003055
symbol: ALDH18A1
gene_biotype: protein_coding
description:
  Delta-1-pyrroline-5-carboxylate synthase; In the C-terminal section; belongs to the gamma-glutamyl phosphate reductase family.


ensembl_gene_id: ENSTTRP00000003099
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: ENSTTRP00000003123
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: ENSTTRP00000003139
symbol: CDS1
gene_biotype: protein_coding
description:
  Phosphatidate cytidylyltransferase; Provides CDP-diacylglycerol, an important precursor for the synthesis of phosphatidylinositol, phosphatidylglycerol, and cardiolipin.


ensembl_gene_id: ENSTTRP00000003164
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: ENSTTRP00000003174
symbol: ATP13A4
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: ENSTTRP00000003180
symbol: BEST4
gene_biotype: protein_coding
description:
  Bestrophin; Forms calcium-sensitive chloride channels. Permeable to bicarbonate; Belongs to the bestrophin family.


ensembl_gene_id: ENSTTRP00000003182
symbol: SFT2D2
gene_biotype: protein_coding
description:
  Vesicle transport protein; May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex. Belongs to the SFT2 family.


ensembl_gene_id: ENSTTRP00000003200
symbol: PGAP1
gene_biotype: protein_coding
description:
  GPI inositol-deacylase; Involved in inositol deacylation of GPI-anchored proteins. GPI inositol deacylation may important for efficient transport of GPI- anchored proteins from the endoplasmic reticulum to the Golgi.


ensembl_gene_id: ENSTTRP00000003231
symbol: OSTC
gene_biotype: protein_coding
description:
  Oligosaccharyltransferase complex subunit; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All s [...]


ensembl_gene_id: ENSTTRP00000003237
symbol: ETNPPL
gene_biotype: protein_coding
description:
  Ethanolamine-phosphate phospho-lyase isoform X1; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSTTRP00000003243
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: ENSTTRP00000003246
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: ENSTTRP00000003250
symbol: VPS16
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 16 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes. Belongs to the VPS16 family.


ensembl_gene_id: ENSTTRP00000003255
symbol: PHKA1
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: ENSTTRP00000003265
symbol: SLC44A1
gene_biotype: protein_coding
description:
  Choline transporter-like protein 1 isoform X2; Belongs to the CTL (choline transporter-like) family.


ensembl_gene_id: ENSTTRP00000003269
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: ENSTTRP00000003276
symbol: MAP2K6
gene_biotype: protein_coding
description:
  Dual specificity mitogen-activated protein kinase kinase 6; Belongs to the protein kinase superfamily.


ensembl_gene_id: ENSTTRP00000003288
symbol: TRPC4
gene_biotype: protein_coding
description:
  Short transient receptor potential channel 4 isoform X1; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSTTRP00000003291
symbol: MFN2
gene_biotype: protein_coding
description:
  Mitofusin-2 isoform X1; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSTTRP00000003293
symbol: RHAG
gene_biotype: protein_coding
description:
  Ammonium transporter Rh type A; Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.


ensembl_gene_id: ENSTTRP00000003295
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: ENSTTRP00000003318
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: ENSTTRP00000003336
symbol: GINS4
gene_biotype: protein_coding
description:
  DNA replication complex GINS protein SLD5; The GINS complex plays an essential role in the initiation of DNA replication; Belongs to the GINS4/SLD5 family.


ensembl_gene_id: ENSTTRP00000003352
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: ENSTTRP00000003367
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: ENSTTRP00000003408
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: ENSTTRP00000003450
symbol: ELOVL2
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 2; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). May participate to the production  [...]


ensembl_gene_id: ENSTTRP00000003451
symbol: PMP22
gene_biotype: protein_coding
description:
  Peripheral myelin protein 22; Might be involved in growth regulation, and in myelinization in the peripheral nervous system; Belongs to the PMP-22/EMP/MP20 family.


ensembl_gene_id: ENSTTRP00000003457
symbol: GABRR1
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit rho-1; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000003458
symbol: GABRR2
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit rho-2; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000003467
symbol: WNT3
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: ENSTTRP00000003471
symbol: GOSR2
gene_biotype: protein_coding
description:
  Golgi SNAP receptor complex member 2 isoform X1; Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.


ensembl_gene_id: ENSTTRP00000003476
symbol: TUBB6
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: ENSTTRP00000003502
symbol: WDR76
gene_biotype: protein_coding
description:
  WD repeat-containing protein 76; Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC. Belongs to the WD repeat DDB2/WDR76 family.


ensembl_gene_id: ENSTTRP00000003504
symbol: GJB2
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: ENSTTRP00000003539
symbol: PIP4P2
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: ENSTTRP00000003606
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: ENSTTRP00000003611
symbol: PFDN4
gene_biotype: protein_coding
description:
  Prefoldin subunit 4; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins; Belongs to the prefoldin subunit beta family.


ensembl_gene_id: ENSTTRP00000003636
symbol: TERT
gene_biotype: protein_coding
description:
  Telomerase reverse transcriptase; Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nuc [...]


ensembl_gene_id: ENSTTRP00000003663
symbol: ENTPD8
gene_biotype: protein_coding
description:
  Ectonucleoside triphosphate diphosphohydrolase 8 isoform X5; Belongs to the GDA1/CD39 NTPase family.


ensembl_gene_id: ENSTTRP00000003689
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: ENSTTRP00000003784
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: ENSTTRP00000003788
symbol: RNF8
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RNF8; E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by mediating the 'Lys-63'-linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair proteins at double-strand breaks (DSBs) sites, and by catalyzing 'Lys-48'-linked ubiquitination to remove target proteins from DNA damage sites. Following DNA DSBs, it is recruited to the sites of damage by ATM-phosphorylated MDC1 and catalyzes the 'Lys-63'-linked ubiquitination of histones H2A and H2AX, thereby promoting the formation of TP53 [...]


ensembl_gene_id: ENSTTRP00000003794
symbol: ISCU
gene_biotype: protein_coding
description:
  Iron-sulfur cluster assembly enzyme ISCU, mitochondrial; 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: ENSTTRP00000003829
symbol: SELL
gene_biotype: protein_coding
description:
  L-selectin; Calcium-dependent lectin that mediates cell adhesion by binding to glycoproteins on neighboring cells. Mediates the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes. Promotes initial tethering and rolling of leukocytes in endothelia.


ensembl_gene_id: ENSTTRP00000003860
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: ENSTTRP00000003882
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: ENSTTRP00000003895
symbol: GDAP1
gene_biotype: protein_coding
description:
  Ganglioside-induced differentiation-associated protein 1 isoform X1; Belongs to the GST superfamily.


ensembl_gene_id: ENSTTRP00000003902
symbol: LOC101328860
gene_biotype: protein_coding
description:
  SLA class II histocompatibility antigen, DQ haplotype D alpha chain-like isoform X2; Belongs to the MHC class II family.


ensembl_gene_id: ENSTTRP00000003929
symbol: NDUFB8
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSTTRP00000003956
symbol: EIF4E
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 4E isoform X2; Belongs to the eukaryotic initiation factor 4E family.


ensembl_gene_id: ENSTTRP00000003974
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: ENSTTRP00000003988
symbol: OAT
gene_biotype: protein_coding
description:
  Ornithine aminotransferase, mitochondrial; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSTTRP00000003999
symbol: VPS41
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 41 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport pathways; Belongs to the VPS41 family.


ensembl_gene_id: ENSTTRP00000004010
symbol: KCNK12
gene_biotype: protein_coding
description:
  Potassium channel subfamily K member 12; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSTTRP00000004030
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: ENSTTRP00000004038
symbol: HSD17B8
gene_biotype: protein_coding
description:
  Estradiol 17-beta-dehydrogenase 8; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000004041
symbol: KMT2A
gene_biotype: protein_coding
description:
  Histone-lysine N-methyltransferase; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.


ensembl_gene_id: ENSTTRP00000004052
symbol: ARCN1
gene_biotype: protein_coding
description:
  Coatomer subunit delta; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins.


ensembl_gene_id: ENSTTRP00000004070
symbol: NUP93
gene_biotype: protein_coding
description:
  Nuclear pore complex protein Nup93; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance; Belongs to the nucleoporin interacting component (NIC) family.


ensembl_gene_id: ENSTTRP00000004073
symbol: ADCY2
gene_biotype: protein_coding
description:
  Adenylate cyclase; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSTTRP00000004074
symbol: OXCT1
gene_biotype: protein_coding
description:
  Succinyl-CoA:3-ketoacid-coenzyme A transferase; Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate.


ensembl_gene_id: ENSTTRP00000004135
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: ENSTTRP00000004136
symbol: TGFBR2
gene_biotype: protein_coding
description:
  TGF-beta receptor type-2; Transmembrane serine/threonine kinase forming with the TGF- beta type I serine/threonine kinase receptor, TGFBR1, the non- promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinoge [...]


ensembl_gene_id: ENSTTRP00000004144
symbol: SUV39H2
gene_biotype: protein_coding
description:
  Histone-lysine N-methyltransferase; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily.


ensembl_gene_id: ENSTTRP00000004179
symbol: BCAT1
gene_biotype: protein_coding
description:
  Branched-chain-amino-acid aminotransferase; Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSTTRP00000004189
symbol: MPC1
gene_biotype: protein_coding
description:
  Mitochondrial pyruvate carrier; Mediates the uptake of pyruvate into mitochondria. Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family.


ensembl_gene_id: ENSTTRP00000004198
symbol: MYO1B
gene_biotype: protein_coding
description:
  Unconventional myosin-Ib isoform X1; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000004201
symbol: PDE1B
gene_biotype: protein_coding
description:
  Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B; Belongs to the cyclic nucleotide phosphodiesterase family.


ensembl_gene_id: ENSTTRP00000004219
symbol: TSPYL6
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: testis-specific Y-encoded-like protein 6; Belongs to the nucleosome assembly protein (NAP) family.


ensembl_gene_id: ENSTTRP00000004222
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: ENSTTRP00000004225
symbol: UBR3
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: ENSTTRP00000004244
symbol: PPP2R5C
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: ENSTTRP00000004300
symbol: MED13
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: ENSTTRP00000004323
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: ENSTTRP00000004337
symbol: RRH
gene_biotype: protein_coding
description:
  Visual pigment-like receptor peropsin isoform X1; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSTTRP00000004362
symbol: MECP2
gene_biotype: protein_coding
description:
  Methyl-CpG-binding protein 2; Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC).


ensembl_gene_id: ENSTTRP00000004376
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: ENSTTRP00000004377
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: ENSTTRP00000004396
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: ENSTTRP00000004397
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: ENSTTRP00000004410
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: ENSTTRP00000004415
symbol: SLC8B1
gene_biotype: protein_coding
description:
  Sodium/potassium/calcium exchanger 6, mitochondrial isoform X2; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSTTRP00000004417
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: ENSTTRP00000004419
symbol: PABPC1
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: ENSTTRP00000004425
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: ENSTTRP00000004436
symbol: MED15
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 15; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSTTRP00000004463
symbol: DHRS3
gene_biotype: protein_coding
description:
  Short-chain dehydrogenase/reductase 3 isoform X2; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000004470
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: ENSTTRP00000004471
symbol: PIM2
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: ENSTTRP00000004477
symbol: MYO5C
gene_biotype: protein_coding
description:
  Unconventional myosin-Vc; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000004494
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: ENSTTRP00000004501
symbol: ATP5PF
gene_biotype: protein_coding
description:
  ATP synthase-coupling factor 6, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain; Belongs to the eukaryotic ATPase subunit F6 family.


ensembl_gene_id: ENSTTRP00000004514
symbol: TUBA1B
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: ENSTTRP00000004522
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: ENSTTRP00000004524
symbol: MYO5A
gene_biotype: protein_coding
description:
  Unconventional myosin-Va isoform X1; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000004526
symbol: ARPP19
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: cAMP-regulated phosphoprotein 19-like; Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. Belongs to the endosulfine family.


ensembl_gene_id: ENSTTRP00000004536
symbol: EIF3L
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit L; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSTTRP00000004557
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: ENSTTRP00000004587
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: ENSTTRP00000004610
symbol: TAF10
gene_biotype: protein_coding
description:
  Transcription initiation factor TFIID subunit 10; TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors; Belongs to the TAF10 family.


ensembl_gene_id: ENSTTRP00000004638
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: ENSTTRP00000004664
symbol: OTC
gene_biotype: protein_coding
description:
  Ornithine carbamoyltransferase, mitochondrial; Belongs to the aspartate/ornithine carbamoyltransferase superfamily.


ensembl_gene_id: ENSTTRP00000004674
symbol: MRPS5
gene_biotype: protein_coding
description:
  28S ribosomal protein S5, mitochondrial isoform X1; Belongs to the universal ribosomal protein uS5 family.


ensembl_gene_id: ENSTTRP00000004695
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: ENSTTRP00000004697
symbol: BMPR2
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: ENSTTRP00000004715
symbol: ADGRG2
gene_biotype: protein_coding
description:
  Adhesion G-protein coupled receptor G2 isoform X2; Belongs to the G-protein coupled receptor 2 family.


ensembl_gene_id: ENSTTRP00000004725
symbol: TUBB1-2
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: ENSTTRP00000004747
symbol: SLC28A3
gene_biotype: protein_coding
description:
  Sodium/nucleoside cotransporter; Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family.


ensembl_gene_id: ENSTTRP00000004767
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: ENSTTRP00000004778
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: ENSTTRP00000004788
symbol: VPS45
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: vacuolar protein sorting-associated protein 45-like; Belongs to the STXBP/unc-18/SEC1 family.


ensembl_gene_id: ENSTTRP00000004789
symbol: HSD17B12
gene_biotype: protein_coding
description:
  Very-long-chain 3-oxoacyl-CoA reductase isoform X1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000004791
symbol: AGXT2
gene_biotype: protein_coding
description:
  Alanine--glyoxylate aminotransferase 2, mitochondrial isoform X1; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSTTRP00000004799
symbol: LOC101320102
gene_biotype: protein_coding
description:
  Histone H4; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.


ensembl_gene_id: ENSTTRP00000004813
symbol: ATP5F1A
gene_biotype: protein_coding
description:
  ATP synthase subunit alpha; Produces ATP from ADP in the presence of a proton gradient across the membrane.


ensembl_gene_id: ENSTTRP00000004829
symbol: KCND3
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel subfamily D member 3 isoform X1; Belongs to the potassium channel family.


ensembl_gene_id: ENSTTRP00000004840
symbol: DUSP3
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: ENSTTRP00000004843
symbol: EIF4E3
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 4E type 3 isoform X2; Belongs to the eukaryotic initiation factor 4E family.


ensembl_gene_id: ENSTTRP00000004857
symbol: KDSR
gene_biotype: protein_coding
description:
  3-ketodihydrosphingosine reductase; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000004858
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: ENSTTRP00000004897
symbol: SCNN1B
gene_biotype: protein_coding
description:
  Amiloride-sensitive sodium channel subunit beta; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSTTRP00000004901
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: ENSTTRP00000004929
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: ENSTTRP00000004950
symbol: EARS2
gene_biotype: protein_coding
description:
  Probable glutamate--tRNA ligase, mitochondrial isoform X3; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSTTRP00000004972
symbol: MYO1E
gene_biotype: protein_coding
description:
  Unconventional myosin-Ie; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000004993
symbol: KIF26B
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF26B; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000005011
symbol: DHRS7B
gene_biotype: protein_coding
description:
  Dehydrogenase/reductase SDR family member 7B isoform X3; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000005044
symbol: MAP2K3
gene_biotype: protein_coding
description:
  Dual specificity mitogen-activated protein kinase kinase 3; Belongs to the protein kinase superfamily.


ensembl_gene_id: ENSTTRP00000005045
symbol: QPRT
gene_biotype: protein_coding
description:
  Nicotinate-nucleotide pyrophosphorylase [carboxylating]; Involved in the catabolism of quinolinic acid (QA). Belongs to the NadC/ModD family.


ensembl_gene_id: ENSTTRP00000005059
symbol: FABP5
gene_biotype: protein_coding
description:
  Fatty acid-binding protein, epidermal; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSTTRP00000005060
symbol: HMOX2
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: ENSTTRP00000005083
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: ENSTTRP00000005119
symbol: CLTB
gene_biotype: protein_coding
description:
  Clathrin light chain; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles; Belongs to the clathrin light chain family.


ensembl_gene_id: ENSTTRP00000005168
symbol: LOC101322527
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: ENSTTRP00000005180
symbol: SEPTIN12
gene_biotype: protein_coding
description:
  Septin-12; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSTTRP00000005188
symbol: EGR1
gene_biotype: protein_coding
description:
  Early growth response protein; Transcriptional regulator. Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'(EGR-site) in the promoter region of target genes. Binds double-stranded target DNA, irrespective of the cytosine methylation status. Regulates the transcription of numerous target genes, and thereby plays an important role in regulating the response to growth factors, DNA damage, and ischemia. Plays a role in the regulation of cell survival, proliferation and cell death. Belongs to the EGR C2H2-type zinc-finger protein family.


ensembl_gene_id: ENSTTRP00000005200
symbol: DHRS7
gene_biotype: protein_coding
description:
  Dehydrogenase/reductase SDR family member 7 isoform X2; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000005202
symbol: PPME1
gene_biotype: protein_coding
description:
  Protein phosphatase methylesterase 1; Demethylates proteins that have been reversibly carboxymethylated.


ensembl_gene_id: ENSTTRP00000005261
symbol: CD14
gene_biotype: protein_coding
description:
  Monocyte differentiation antigen CD14; Coreceptor for bacterial lipopolysaccharide. In concert with LBP, binds to monomeric lipopolysaccharide and delivers it to the LY96/TLR4 complex, thereby mediating the innate immune response to bacterial lipopolysaccharide (LPS). Acts via MyD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Acts as a coreceptor for TLR2:TLR6 heterodimer in response to diacylated lipopeptides and for TLR2:TLR1 heterodimer in response to triacylated lipopeptides, these clusters trigger signaling from the cell su [...]


ensembl_gene_id: ENSTTRP00000005272
symbol: SLC25A24
gene_biotype: protein_coding
description:
  Calcium-binding mitochondrial carrier protein SCaMC-1 isoform X1; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000005274
symbol: DERL2
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: ENSTTRP00000005281
symbol: SLC5A7
gene_biotype: protein_coding
description:
  High affinity choline transporter 1; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.


ensembl_gene_id: ENSTTRP00000005293
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: ENSTTRP00000005296
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.


ensembl_gene_id: ENSTTRP00000005322
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: ENSTTRP00000005323
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: ENSTTRP00000005330
symbol: COQ2
gene_biotype: protein_coding
description:
  4-hydroxybenzoate polyprenyltransferase, mitochondrial; Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB, generating the first membrane-bound Q intermediate.


ensembl_gene_id: ENSTTRP00000005341
symbol: RPLP0
gene_biotype: protein_coding
description:
  60S acidic ribosomal protein P0; Ribosomal protein P0 is the functional equivalent of E.coli protein L10.


ensembl_gene_id: ENSTTRP00000005343
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: ENSTTRP00000005345
symbol: ENTPD1
gene_biotype: protein_coding
description:
  Ectonucleoside triphosphate diphosphohydrolase 1 isoform X1; Belongs to the GDA1/CD39 NTPase family.


ensembl_gene_id: ENSTTRP00000005369
symbol: MND1
gene_biotype: protein_coding
description:
  Meiotic nuclear division protein 1 homolog; Required for proper homologous chromosome pairing and efficient cross-over and intragenic recombination during meiosis. Belongs to the MND1 family.


ensembl_gene_id: ENSTTRP00000005380
symbol: SIAH3
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.


ensembl_gene_id: ENSTTRP00000005393
symbol: SLC44A3
gene_biotype: protein_coding
description:
  Choline transporter-like protein 3 isoform X1; Belongs to the CTL (choline transporter-like) family.


ensembl_gene_id: ENSTTRP00000005420
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: ENSTTRP00000005422
symbol: GPD2
gene_biotype: protein_coding
description:
  Glycerol-3-phosphate dehydrogenase; Belongs to the FAD-dependent glycerol-3-phosphate dehydrogenase family.


ensembl_gene_id: ENSTTRP00000005427
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: ENSTTRP00000005433
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: ENSTTRP00000005461
symbol: PRMT2
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: protein arginine N-methyltransferase 2; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSTTRP00000005492
symbol: NADSYN1
gene_biotype: protein_coding
description:
  Glutamine-dependent NAD(+) synthetase; In the C-terminal section; belongs to the NAD synthetase family.


ensembl_gene_id: ENSTTRP00000005494
symbol: ST3GAL2
gene_biotype: protein_coding
description:
  CMP-N-acetylneuraminate-beta-galactosamide- alpha-2,3-sialyltransferase 2; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSTTRP00000005543
symbol: ATP2A3
gene_biotype: protein_coding
description:
  Sarcoplasmic/endoplasmic reticulum calcium ATPase 3; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family.


ensembl_gene_id: ENSTTRP00000005556
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: ENSTTRP00000005557
symbol: LMF1
gene_biotype: protein_coding
description:
  Lipase maturation factor; Involved in the maturation of specific proteins in the endoplasmic reticulum; Belongs to the lipase maturation factor family.


ensembl_gene_id: ENSTTRP00000005573
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: ENSTTRP00000005576
symbol: LOC101326477
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: ENSTTRP00000005578
symbol: TRMT1L
gene_biotype: protein_coding
description:
  TRMT1-like protein isoform X4; Belongs to the class I-like SAM-binding methyltransferase superfamily. Trm1 family.


ensembl_gene_id: ENSTTRP00000005585
symbol: ZMPSTE24
gene_biotype: protein_coding
description:
  CAAX prenyl protease; Proteolytically removes the C-terminal three residues of farnesylated proteins; Belongs to the peptidase M48A family.


ensembl_gene_id: ENSTTRP00000005617
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: ENSTTRP00000005639
symbol: AGPAT1
gene_biotype: protein_coding
description:
  1-acyl-sn-glycerol-3-phosphate acyltransferase; Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family.


ensembl_gene_id: ENSTTRP00000005648
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: ENSTTRP00000005662
symbol: UBE3A
gene_biotype: protein_coding
description:
  Ubiquitin-protein ligase E3A; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates.


ensembl_gene_id: ENSTTRP00000005676
symbol: GABRQ
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit theta; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000005677
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: ENSTTRP00000005679
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: ENSTTRP00000005695
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: ENSTTRP00000005705
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: ENSTTRP00000005708
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: ENSTTRP00000005733
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: ENSTTRP00000005735
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: ENSTTRP00000005755
symbol: SCNN1G
gene_biotype: protein_coding
description:
  Amiloride-sensitive sodium channel subunit gamma; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSTTRP00000005789
symbol: NSUN5
gene_biotype: protein_coding
description:
  Probable 28S rRNA (Cytosine-C(5))-methyltransferase; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSTTRP00000005822
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: ENSTTRP00000005884
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: ENSTTRP00000005887
symbol: ADGRL2
gene_biotype: protein_coding
description:
  Adhesion G protein-coupled receptor L2 isoform X11; Belongs to the G-protein coupled receptor 2 family.


ensembl_gene_id: ENSTTRP00000005891
symbol: TUBGCP5
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: ENSTTRP00000005912
symbol: CYBA
gene_biotype: protein_coding
description:
  Cytochrome b-245 light chain; Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide; Belongs to the p22phox family.


ensembl_gene_id: ENSTTRP00000005918
symbol: KIF18B
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF18B isoform X1; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000005930
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: ENSTTRP00000005962
symbol: ST8SIA4
gene_biotype: protein_coding
description:
  CMP-N-acetylneuraminate-poly-alpha-2, 8-sialyltransferase isoform X1; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSTTRP00000005984
symbol: LOC101334086
gene_biotype: protein_coding
description:
  Cytochrome b-c1 complex subunit 6; This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1. Belongs to the UQCRH/QCR6 family.


ensembl_gene_id: ENSTTRP00000005987
symbol: CLDN20
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: ENSTTRP00000006027
symbol: SLC25A40
gene_biotype: protein_coding
description:
  Solute carrier family 25 member 40 isoform X1; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000006047
symbol: KIF16B
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF16B isoform X2; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000006059
symbol: MYO1H
gene_biotype: protein_coding
description:
  Unconventional myosin-Ih; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000006071
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: ENSTTRP00000006073
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: ENSTTRP00000006084
symbol: GABRA4
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit alpha-4 isoform X1; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000006086
symbol: GABRB1
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: gamma-aminobutyric acid receptor subunit beta-1; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000006092
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: ENSTTRP00000006103
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: ENSTTRP00000006110
symbol: SLC5A12
gene_biotype: protein_coding
description:
  Sodium-coupled monocarboxylate transporter 2; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.


ensembl_gene_id: ENSTTRP00000006111
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: ENSTTRP00000006137
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); Belongs to the type II (or gamma) interferon family.


ensembl_gene_id: ENSTTRP00000006145
symbol: DHRS9
gene_biotype: protein_coding
description:
  Dehydrogenase/reductase SDR family member 9; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000006201
symbol: MSRB2
gene_biotype: protein_coding
description:
  Peptide-methionine (R)-S-oxide reductase; Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residues.


ensembl_gene_id: ENSTTRP00000006256
symbol: MACROH2A2
gene_biotype: protein_coding
description:
  Core histone macro-H2A; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes.


ensembl_gene_id: ENSTTRP00000006284
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: ENSTTRP00000006293
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: ENSTTRP00000006306
symbol: NPFFR1
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: neuropeptide FF receptor 1; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSTTRP00000006322
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: ENSTTRP00000006336
symbol: ENTPD3
gene_biotype: protein_coding
description:
  Ectonucleoside triphosphate diphosphohydrolase 3 isoform X1; Belongs to the GDA1/CD39 NTPase family.


ensembl_gene_id: ENSTTRP00000006348
symbol: USP16
gene_biotype: protein_coding
description:
  Ubiquitin carboxyl-terminal hydrolase 16; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes.


ensembl_gene_id: ENSTTRP00000006374
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: ENSTTRP00000006385
symbol: KIF15
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF15; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000006430
symbol: SDR42E1
gene_biotype: protein_coding
description:
  Short-chain dehydrogenase/reductase family 42E member 1 isoform X1; Belongs to the 3-beta-HSD family.


ensembl_gene_id: ENSTTRP00000006431
symbol: HSD17B2
gene_biotype: protein_coding
description:
  Estradiol 17-beta-dehydrogenase 2; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000006449
symbol: LARS2
gene_biotype: protein_coding
description:
  Probable leucine--tRNA ligase, mitochondrial isoform X2; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSTTRP00000006463
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: ENSTTRP00000006467
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: ENSTTRP00000006471
symbol: SLC25A1
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: tricarboxylate transport protein, mitochondrial-like; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000006472
symbol: DSC3
gene_biotype: protein_coding
description:
  Desmocollin-3 isoform X1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSTTRP00000006474
symbol: DSC2
gene_biotype: protein_coding
description:
  Desmocollin-2 isoform X1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSTTRP00000006510
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: ENSTTRP00000006511
symbol: PRKD3
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.


ensembl_gene_id: ENSTTRP00000006553
symbol: BLVRA
gene_biotype: protein_coding
description:
  Biliverdin reductase A; Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor; Belongs to the Gfo/Idh/MocA family. Biliverdin reductase subfamily.


ensembl_gene_id: ENSTTRP00000006566
symbol: RUNX2
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: ENSTTRP00000006583
symbol: FABP4
gene_biotype: protein_coding
description:
  Fatty acid-binding protein, adipocyte; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSTTRP00000006599
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: ENSTTRP00000006635
symbol: PTK7
gene_biotype: protein_coding
description:
  Inactive tyrosine-protein kinase 7; Belongs to the protein kinase superfamily. Tyr protein kinase family.


ensembl_gene_id: ENSTTRP00000006647
symbol: G6PD
gene_biotype: protein_coding
description:
  Glucose-6-phosphate 1-dehydrogenase; Catalyzes the rate-limiting step of the oxidative pentose- phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis.


ensembl_gene_id: ENSTTRP00000006655
symbol: AQP11
gene_biotype: protein_coding
description:
  Aquaporin; Aquaporins facilitate the transport of water and small neutral solutes across cell membranes.


ensembl_gene_id: ENSTTRP00000006687
symbol: SLC2A2
gene_biotype: protein_coding
description:
  Solute carrier family 2, facilitated glucose transporter member 2 isoform X1; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSTTRP00000006731
symbol: KIF13A
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF13A isoform X3; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000006736
symbol: ADGRG4
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: adhesion G-protein coupled receptor G4; Belongs to the G-protein coupled receptor 2 family.


ensembl_gene_id: ENSTTRP00000006737
symbol: SLC2A5
gene_biotype: protein_coding
description:
  Solute carrier family 2, facilitated glucose transporter member 5-like; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSTTRP00000006755
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: ENSTTRP00000006757
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: ENSTTRP00000006766
symbol: PAN2
gene_biotype: protein_coding
description:
  PAN2-PAN3 deadenylation complex catalytic subunit PAN2; Catalytic subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenlyation-dependent  [...]


ensembl_gene_id: ENSTTRP00000006768
symbol: LOC101337012
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 subunit C2; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSTTRP00000006779
symbol: NSUN3
gene_biotype: protein_coding
description:
  Putative methyltransferase NSUN3; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSTTRP00000006831
symbol: LOC101338541
gene_biotype: protein_coding
description:
  Membrane cofactor protein; Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte during fertilization.


ensembl_gene_id: ENSTTRP00000006844
symbol: CHRM5
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: ENSTTRP00000006866
symbol: EIF2B1
gene_biotype: protein_coding
description:
  Translation initiation factor eIF-2B subunit alpha; Belongs to the eIF-2B alpha/beta/delta subunits family.


ensembl_gene_id: ENSTTRP00000006912
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: ENSTTRP00000006941
symbol: SLC25A48
gene_biotype: protein_coding
description:
  Solute carrier family 25 member 48 isoform X4; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000006942
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: ENSTTRP00000006953
symbol: UQCRB
gene_biotype: protein_coding
description:
  Cytochrome b-c1 complex subunit 7; Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain; Belongs to the UQCRB/QCR7 family.


ensembl_gene_id: ENSTTRP00000006999
symbol: LIMS1
gene_biotype: protein_coding
description:
  LIM and senescent cell antigen-like-containing domain protein; Adapter protein in a cytoplasmic complex linking beta- integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors.


ensembl_gene_id: ENSTTRP00000007023
symbol: NSUN6
gene_biotype: protein_coding
description:
  Putative methyltransferase NSUN6 isoform X2; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSTTRP00000007024
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: ENSTTRP00000007030
symbol: PRMT3
gene_biotype: protein_coding
description:
  Protein arginine N-methyltransferase 3 isoform X1; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSTTRP00000007032
symbol: GLDC
gene_biotype: protein_coding
description:
  Glycine cleavage system P protein; The glycine cleavage system catalyzes the degradation of glycine.


ensembl_gene_id: ENSTTRP00000007076
symbol: ITGB3BP
gene_biotype: protein_coding
description:
  Centromere protein R; Transcription coregulator that can have both coactivator and corepressor functions.


ensembl_gene_id: ENSTTRP00000007101
symbol: GPR142
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: probable G-protein coupled receptor 142; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSTTRP00000007113
symbol: EIF2A
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 2A; Functions in the early steps of protein synthesis of a small number of specific mRNAs. Acts by directing the binding of methionyl- tRNAi to 40S ribosomal subunits. In contrast to the eIF-2 complex, it binds methionyl-tRNAi to 40S subunits in a codon-dependent manner, whereas the eIF-2 complex binds methionyl-tRNAi to 40S subunits in a GTP-dependent manner.


ensembl_gene_id: ENSTTRP00000007141
symbol: SLC2A9
gene_biotype: protein_coding
description:
  Solute carrier family 2, facilitated glucose transporter member 9; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSTTRP00000007155
symbol: SUCLG2
gene_biotype: protein_coding
description:
  Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial; GTP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit.


ensembl_gene_id: ENSTTRP00000007171
symbol: SEC16A
gene_biotype: protein_coding
description:
  Protein transport protein sec16; Plays a role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus.


ensembl_gene_id: ENSTTRP00000007172
symbol: MYO1G
gene_biotype: protein_coding
description:
  Unconventional myosin-Ig-like; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000007194
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: ENSTTRP00000007198
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: ENSTTRP00000007237
symbol: SURF1
gene_biotype: protein_coding
description:
  SURF1-like protein; Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Belongs to the SURF1 family.


ensembl_gene_id: ENSTTRP00000007241
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: ENSTTRP00000007250
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: ENSTTRP00000007283
symbol: SLC47A2
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: ENSTTRP00000007293
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: ENSTTRP00000007311
symbol: ACVR1
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: ENSTTRP00000007320
symbol: KDM1A
gene_biotype: protein_coding
description:
  Lysine-specific histone demethylase; Histone demethylase that demethylates both 'Lys-4' (H3K4me) and 'Lys-9' (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Acts as a corepressor by mediating demethylation of H3K4me, a specific tag for epigenetic transcriptional activation. Demethylates both mono- (H3K4me1) and di-methylated (H3K4me2) H3K4me; Belongs to the flavin monoamine oxidase family.


ensembl_gene_id: ENSTTRP00000007332
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: ENSTTRP00000007349
symbol: CEPT1
gene_biotype: protein_coding
description:
  Choline/ethanolaminephosphotransferase 1; Belongs to the CDP-alcohol phosphatidyltransferase class-I family.


ensembl_gene_id: ENSTTRP00000007353
symbol: SIRT5
gene_biotype: protein_coding
description:
  NAD-dependent protein deacylase sirtuin-5, mitochondrial; NAD-dependent lysine demalonylase, desuccinylase and deglutarylase that specifically removes malonyl, succinyl and glutaryl groups on target proteins. Activates CPS1 and contributes to the regulation of blood ammonia levels during prolonged fasting: acts by mediating desuccinylation and deglutarylation of CPS1, thereby increasing CPS1 activity in response to elevated NAD levels during fasting. Activates SOD1 by mediating its desuccinylation, leading to reduced reactive oxygen species. Modulates ketogenesis through the desuccinyl [...]


ensembl_gene_id: ENSTTRP00000007367
symbol: NCAPH
gene_biotype: protein_coding
description:
  Condensin complex subunit 2; Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes.


ensembl_gene_id: ENSTTRP00000007375
symbol: TRNT1
gene_biotype: protein_coding
description:
  CCA tRNA nucleotidyltransferase 1, mitochondrial; Belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family.


ensembl_gene_id: ENSTTRP00000007393
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: ENSTTRP00000007396
symbol: TRPV5
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily V member 5-like isoform X1; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSTTRP00000007400
symbol: ECHDC2
gene_biotype: protein_coding
description:
  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X2; Belongs to the enoyl-CoA hydratase/isomerase family.


ensembl_gene_id: ENSTTRP00000007402
symbol: POLR3A
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase subunit; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.


ensembl_gene_id: ENSTTRP00000007413
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: ENSTTRP00000007414
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: ENSTTRP00000007423
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: ENSTTRP00000007426
symbol: SCP2
gene_biotype: protein_coding
description:
  Non-specific lipid-transfer protein isoform X1; Belongs to the thiolase-like superfamily. Thiolase family.


ensembl_gene_id: ENSTTRP00000007449
symbol: KIF4A
gene_biotype: protein_coding
description:
  Chromosome-associated kinesin KIF4A isoform X1; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000007471
symbol: DUSP5
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSTTRP00000007489
symbol: ATP2A1
gene_biotype: protein_coding
description:
  Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform X2; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family.


ensembl_gene_id: ENSTTRP00000007506
symbol: DUSP15
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase 15; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSTTRP00000007524
symbol: ADGRE3
gene_biotype: protein_coding
description:
  Adhesion G protein-coupled receptor E3 isoform X2; Belongs to the G-protein coupled receptor 2 family.


ensembl_gene_id: ENSTTRP00000007543
symbol: CYP11A1
gene_biotype: protein_coding
description:
  Cholesterol side-chain cleavage enzyme, mitochondrial; A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones. Catalyzes three sequential oxidation reactions of cholesterol, namely the hydroxylation at C22 followed with the hydroxylation at C20 to yield 20R,22R- hydroxycholesterol that is further cleaved between C20 and C22 to yield the C21-steroid pregnenolone and 4-methylpentanal. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the se [...]


ensembl_gene_id: ENSTTRP00000007593
symbol: FLT1
gene_biotype: protein_coding
description:
  Vascular endothelial growth factor receptor 1 isoform X1; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSTTRP00000007604
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: ENSTTRP00000007618
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: ENSTTRP00000007621
symbol: POLR3G
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase III subunit; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs.


ensembl_gene_id: ENSTTRP00000007625
symbol: SLC24A5
gene_biotype: protein_coding
description:
  Sodium/potassium/calcium exchanger 5; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSTTRP00000007626
symbol: GABRA3
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit alpha-3; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000007645
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: ENSTTRP00000007681
symbol: KIF14
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF14; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000007764
symbol: ADGRG7
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: adhesion G-protein coupled receptor G7; Belongs to the G-protein coupled receptor 2 family.


ensembl_gene_id: ENSTTRP00000007766
symbol: STARD3
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: ENSTTRP00000007794
symbol: ATP6V0C
gene_biotype: protein_coding
description:
  V-type proton ATPase proteolipid subunit; Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.


ensembl_gene_id: ENSTTRP00000007805
symbol: IARS1
gene_biotype: protein_coding
description:
  isoleucine--tRNA ligase, cytoplasmic isoform X1; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSTTRP00000007844
symbol: GRHPR
gene_biotype: protein_coding
description:
  Glyoxylate reductase/hydroxypyruvate reductase; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.


ensembl_gene_id: ENSTTRP00000007851
symbol: ACTR2
gene_biotype: protein_coding
description:
  Actin-related protein 2; ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility. Seems to contact the pointed end of the daughter actin filament.


ensembl_gene_id: ENSTTRP00000007854
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: ENSTTRP00000007872
symbol: PRKDC
gene_biotype: protein_coding
description:
  DNA-dependent protein kinase catalytic subunit-like isoform X2; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSTTRP00000007906
symbol: CYP27B1
gene_biotype: protein_coding
description:
  25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial isoform X2; Belongs to the cytochrome P450 family.


ensembl_gene_id: ENSTTRP00000007911
symbol: TSFM
gene_biotype: protein_coding
description:
  Elongation factor Ts, mitochondrial; Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF- Tu.GTP complex up to the GTP hydrolysis stage on the ribosome. Belongs to the EF-Ts family.


ensembl_gene_id: ENSTTRP00000007936
symbol: SUFU
gene_biotype: protein_coding
description:
  Suppressor of fused homolog; Negative regulator in the hedgehog signaling pathway. Down- regulates GLI1-mediated transactivation of target genes. Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein. Negative regulator of beta-catenin signaling. Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full-length form of  [...]


ensembl_gene_id: ENSTTRP00000007960
symbol: GRPEL2
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: ENSTTRP00000007998
symbol: SLC26A2
gene_biotype: protein_coding
description:
  Sulfate transporter; Sulfate transporter. May play a role in endochondral bone formation; Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSTTRP00000008003
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: ENSTTRP00000008016
symbol: ADGRF5
gene_biotype: protein_coding
description:
  Adhesion G protein-coupled receptor F5 isoform X3; Belongs to the G-protein coupled receptor 2 family.


ensembl_gene_id: ENSTTRP00000008019
symbol: SETD6
gene_biotype: protein_coding
description:
  N-lysine methyltransferase SETD6; Protein-lysine N-methyltransferase. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SETD6 subfamily.


ensembl_gene_id: ENSTTRP00000008029
symbol: ATP6V1G3
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit G; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.


ensembl_gene_id: ENSTTRP00000008065
symbol: ATP5G1
gene_biotype: protein_coding
description:
  ATP synthase F(0) complex subunit C1, mitochondrial isoform X1; Belongs to the ATPase C chain family.


ensembl_gene_id: ENSTTRP00000008147
symbol: ST3GAL5
gene_biotype: protein_coding
description:
  Lactosylceramide alpha-2,3-sialyltransferase isoform X2; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSTTRP00000008153
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: ENSTTRP00000008157
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: ENSTTRP00000008183
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: ENSTTRP00000008222
symbol: MYO10
gene_biotype: protein_coding
description:
  Unconventional myosin-X isoform X1; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000008224
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: ENSTTRP00000008233
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: ENSTTRP00000008246
symbol: MRPS11
gene_biotype: protein_coding
description:
  28S ribosomal protein S11, mitochondrial isoform X2; Belongs to the universal ribosomal protein uS11 family.


ensembl_gene_id: ENSTTRP00000008254
symbol: APOC4
gene_biotype: protein_coding
description:
  Apolipoprotein C-IV; May participate in lipoprotein metabolism; Belongs to the apolipoprotein C4 family.


ensembl_gene_id: ENSTTRP00000008256
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: ENSTTRP00000008352
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: ENSTTRP00000008376
symbol: RIOK3
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase RIO3; Involved in regulation of type I interferon (IFN)-dependent immune response which plays a critical role in the innate immune response against DNA and RNA viruses.


ensembl_gene_id: ENSTTRP00000008380
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: ENSTTRP00000008456
symbol: DUSP14
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase 14; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSTTRP00000008492
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: ENSTTRP00000008504
symbol: MAT2A
gene_biotype: protein_coding
description:
  S-adenosylmethionine synthase; Catalyzes the formation of S-adenosylmethionine from methionine and ATP.


ensembl_gene_id: ENSTTRP00000008526
symbol: LOC101332475
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: desmocollin-1-like; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSTTRP00000008537
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: ENSTTRP00000008551
symbol: PTPN11
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: ENSTTRP00000008565
symbol: DPM1
gene_biotype: protein_coding
description:
  Dolichol-phosphate mannosyltransferase subunit 1; Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins.


ensembl_gene_id: ENSTTRP00000008566
symbol: FTSJ1
gene_biotype: protein_coding
description:
  Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase; Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs.


ensembl_gene_id: ENSTTRP00000008573
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: ENSTTRP00000008588
symbol: PORCN
gene_biotype: protein_coding
description:
  Protein-serine O-palmitoleoyltransferase porcupine isoform X4; Belongs to the membrane-bound acyltransferase family.


ensembl_gene_id: ENSTTRP00000008592
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: ENSTTRP00000008624
symbol: KCNK2
gene_biotype: protein_coding
description:
  Potassium channel subfamily K member 2 isoform X1; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSTTRP00000008634
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: ENSTTRP00000008648
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: ENSTTRP00000008680
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: ENSTTRP00000008712
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: ENSTTRP00000008725
symbol: PPOX
gene_biotype: protein_coding
description:
  Protoporphyrinogen oxidase; Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX.


ensembl_gene_id: ENSTTRP00000008736
symbol: NDUFS2
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial; Belongs to the complex I 49 kDa subunit family.


ensembl_gene_id: ENSTTRP00000008793
symbol: MTAP
gene_biotype: protein_coding
description:
  S-methyl-5'-thioadenosine phosphorylase; Catalyzes the reversible phosphorylation of S-methyl-5'- thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis. Responsible for the first step in the methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates.


ensembl_gene_id: ENSTTRP00000008806
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: ENSTTRP00000008812
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: ENSTTRP00000008835
symbol: DDX4
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: probable ATP-dependent RNA helicase DDX4; Belongs to the DEAD box helicase family.


ensembl_gene_id: ENSTTRP00000008868
symbol: NSUN4
gene_biotype: protein_coding
description:
  5-methylcytosine rRNA methyltransferase NSUN4; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSTTRP00000008883
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: ENSTTRP00000008927
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: ENSTTRP00000008934
symbol: TPST2
gene_biotype: protein_coding
description:
  Protein-tyrosine sulfotransferase; Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3'-phosphoadenylyl sulfate (PAPS) as cosubstrate; Belongs to the protein sulfotransferase family.


ensembl_gene_id: ENSTTRP00000008941
symbol: MYO9A
gene_biotype: protein_coding
description:
  Unconventional myosin-IXa isoform X4; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000008975
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: ENSTTRP00000008985
symbol: DUSP10
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase 10; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSTTRP00000009016
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: ENSTTRP00000009108
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: ENSTTRP00000009110
symbol: CNR1
gene_biotype: protein_coding
description:
  Cannabinoid receptor 1; G-protein coupled receptor for cannabinoids (eCBs), including N-arachidonoylethanolamide (also called anandamide or AEA) and 2- arachidonoylglycerol (2-AG). Mediates many cannabinoid-induced effects, acting, among others, on food intake, memory loss, gastrointestinal motility, catalepsy, ambulatory activity, anxiety, chronic pain. Signaling typically involves reduction in cyclic AMP. In the hypothalamus, may have a dual effect on mitochondrial respiration depending upon the agonist dose and possibly upon the cell type. Increases respiration at low doses, while d [...]


ensembl_gene_id: ENSTTRP00000009128
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: ENSTTRP00000009129
symbol: VIPR1
gene_biotype: protein_coding
description:
  Vasoactive intestinal polypeptide receptor 1 isoform X1; Belongs to the G-protein coupled receptor 2 family.


ensembl_gene_id: ENSTTRP00000009141
symbol: PDE9A
gene_biotype: protein_coding
description:
  High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A; Belongs to the cyclic nucleotide phosphodiesterase family.


ensembl_gene_id: ENSTTRP00000009152
symbol: PHGDH
gene_biotype: protein_coding
description:
  D-3-phosphoglycerate dehydrogenase; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.


ensembl_gene_id: ENSTTRP00000009160
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: ENSTTRP00000009170
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: ENSTTRP00000009174
symbol: HMGCS1
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: ENSTTRP00000009175
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: ENSTTRP00000009185
symbol: SLC20A2
gene_biotype: protein_coding
description:
  Phosphate transporter; Sodium-phosphate symporter which plays a fundamental housekeeping role in phosphate transport. Belongs to the inorganic phosphate transporter (PiT) (TC 2.A.20) family.


ensembl_gene_id: ENSTTRP00000009188
symbol: PLCB1
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: ENSTTRP00000009192
symbol: KCNK6
gene_biotype: protein_coding
description:
  Potassium channel subfamily K member 6; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSTTRP00000009196
symbol: NAP1L4
gene_biotype: protein_coding
description:
  Nucleosome assembly protein 1-like 4 isoform X2; Belongs to the nucleosome assembly protein (NAP) family.


ensembl_gene_id: ENSTTRP00000009248
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: ENSTTRP00000009285
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: ENSTTRP00000009293
symbol: UQCRFS1
gene_biotype: protein_coding
description:
  Cytochrome b-c1 complex subunit Rieske, mitochondrial; Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis.


ensembl_gene_id: ENSTTRP00000009338
symbol: PTK2
gene_biotype: protein_coding
description:
  Focal adhesion kinase 1 isoform X3; Belongs to the protein kinase superfamily. Tyr protein kinase family.


ensembl_gene_id: ENSTTRP00000009352
symbol: MYO16
gene_biotype: protein_coding
description:
  Unconventional myosin-XVI; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000009375
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: ENSTTRP00000009411
symbol: NLK
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: ENSTTRP00000009413
symbol: CENPE
gene_biotype: protein_coding
description:
  Centromere-associated protein E; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000009435
symbol: HPRT1
gene_biotype: protein_coding
description:
  Hypoxanthine phosphoribosyltransferase; Belongs to the purine/pyrimidine phosphoribosyltransferase family.


ensembl_gene_id: ENSTTRP00000009437
symbol: ACAA2
gene_biotype: protein_coding
description:
  3-ketoacyl-CoA thiolase, mitochondrial isoform X1; Belongs to the thiolase-like superfamily. Thiolase family.


ensembl_gene_id: ENSTTRP00000009472
symbol: MYO5B
gene_biotype: protein_coding
description:
  Unconventional myosin-Vb; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000009484
symbol: PDF
gene_biotype: protein_coding
description:
  Peptide deformylase; Removes the formyl group from the N-terminal Met of newly synthesized proteins; Belongs to the polypeptide deformylase family.


ensembl_gene_id: ENSTTRP00000009493
symbol: NIP7
gene_biotype: protein_coding
description:
  60S ribosome subunit biogenesis protein NIP7 homolog; Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly; Belongs to the NIP7 family.


ensembl_gene_id: ENSTTRP00000009510
symbol: ATG4A
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: ENSTTRP00000009517
symbol: TRPC1
gene_biotype: protein_coding
description:
  Short transient receptor potential channel 1 isoform X1; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSTTRP00000009540
symbol: CIAPIN1
gene_biotype: protein_coding
description:
  Anamorsin; Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery required for the maturation of extramitochondrial Fe-S proteins. Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis, facilitating the de novo assembly of a [4Fe-4S] cluster on the scaffold complex NUBP1-NUBP2. Electrons are transferred to CIAPIN1 from NADPH via the FAD- and FMN-containing protein NDOR1. NDOR1-CIAPIN1 are also required for the assembly of the diferric tyrosyl radical cofactor of ribonucleotide reductase (RNR), probably by providing electron [...]


ensembl_gene_id: ENSTTRP00000009541
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: ENSTTRP00000009549
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: ENSTTRP00000009562
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: ENSTTRP00000009585
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: ENSTTRP00000009595
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: ENSTTRP00000009616
symbol: NAE1
gene_biotype: protein_coding
description:
  NEDD8-activating enzyme E1 regulatory subunit; Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Belongs to the ubiquitin-activating E1 family. ULA1 subfamily.


ensembl_gene_id: ENSTTRP00000009622
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: ENSTTRP00000009659
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: ENSTTRP00000009681
symbol: HADHA
gene_biotype: protein_coding
description:
  Trifunctional enzyme subunit alpha, mitochondrial; Belongs to the enoyl-CoA hydratase/isomerase family.


ensembl_gene_id: ENSTTRP00000009693
symbol: DUSP18
gene_biotype: protein_coding
description:
  Dual specificity protein phosphatase 18; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSTTRP00000009694
symbol: HADHB
gene_biotype: protein_coding
description:
  Trifunctional enzyme subunit beta, mitochondrial; Belongs to the thiolase-like superfamily. Thiolase family.


ensembl_gene_id: ENSTTRP00000009706
symbol: SELENOI
gene_biotype: protein_coding
description:
  Ethanolaminephosphotransferase 1 isoform X1; Belongs to the CDP-alcohol phosphatidyltransferase class-I family.


ensembl_gene_id: ENSTTRP00000009721
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: ENSTTRP00000009762
symbol: KCNK4
gene_biotype: protein_coding
description:
  Potassium channel subfamily K member 4; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSTTRP00000009765
symbol: CYB5D1
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: cytochrome b5 domain-containing protein 1; Belongs to the cytochrome b5 family.


ensembl_gene_id: ENSTTRP00000009768
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: ENSTTRP00000009809
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: ENSTTRP00000009815
symbol: MRI1
gene_biotype: protein_coding
description:
  Methylthioribose-1-phosphate isomerase isoform X2; Belongs to the eIF-2B alpha/beta/delta subunits family.


ensembl_gene_id: ENSTTRP00000009823
symbol: SOD2
gene_biotype: protein_coding
description:
  Superoxide dismutase; Destroys radicals which are normally produced within the cells and which are toxic to biological systems. Belongs to the iron/manganese superoxide dismutase family.


ensembl_gene_id: ENSTTRP00000009827
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: ENSTTRP00000009841
symbol: NDUFA2
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSTTRP00000009864
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: ENSTTRP00000009868
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: ENSTTRP00000009878
symbol: MRPL3
gene_biotype: protein_coding
description:
  39S ribosomal protein L3, mitochondrial isoform X1; Belongs to the universal ribosomal protein uL3 family.


ensembl_gene_id: ENSTTRP00000009917
symbol: HPGD
gene_biotype: protein_coding
description:
  15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform X1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000009932
symbol: GLRA3
gene_biotype: protein_coding
description:
  Glycine receptor subunit alpha-3 isoform X1; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000009959
symbol: CRYAB
gene_biotype: protein_coding
description:
  Alpha-crystallin B chain; May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions.


ensembl_gene_id: ENSTTRP00000009973
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: ENSTTRP00000009979
symbol: SDHD
gene_biotype: protein_coding
description:
  Succinate dehydrogenase [ubiquinone] cytochrome b small subunit; Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q); Belongs to the CybS family.


ensembl_gene_id: ENSTTRP00000009981
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: ENSTTRP00000010018
symbol: CTPS1
gene_biotype: protein_coding
description:
  CTP synthase; Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen.


ensembl_gene_id: ENSTTRP00000010020
symbol: MRE11
gene_biotype: protein_coding
description:
  Double-strand break repair protein; Involved in DNA double-strand break repair (DSBR). Possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity. Also involved in meiotic DSB processing.


ensembl_gene_id: ENSTTRP00000010023
symbol: NFIB
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: ENSTTRP00000010038
symbol: RAD51
gene_biotype: protein_coding
description:
  DNA repair protein RAD51 homolog; Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination. Binds to single and double-stranded DNA and exhibits DNA-dependent ATPase activity. Catalyzes the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template. Binds to single-stranded DNA in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange. Belongs to the RecA family. RAD51 sub [...]


ensembl_gene_id: ENSTTRP00000010043
symbol: KIF24
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF24 isoform X2; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000010045
symbol: MYORG
gene_biotype: protein_coding
description:
  Uncharacterized family 31 glucosidase KIAA1161 homolog isoform X2; Belongs to the glycosyl hydrolase 31 family.


ensembl_gene_id: ENSTTRP00000010059
symbol: PHYKPL
gene_biotype: protein_coding
description:
  5-phosphohydroxy-L-lysine phospho-lyase; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSTTRP00000010072
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: ENSTTRP00000010086
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: ENSTTRP00000010089
symbol: POLE
gene_biotype: protein_coding
description:
  DNA polymerase epsilon catalytic subunit; DNA polymerase II participates in chromosomal DNA replication; Belongs to the DNA polymerase type-B family.


ensembl_gene_id: ENSTTRP00000010096
symbol: PXMP2
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: peroxisomal membrane protein 2; Belongs to the peroxisomal membrane protein PXMP2/4 family.


ensembl_gene_id: ENSTTRP00000010111
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: ENSTTRP00000010125
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: ENSTTRP00000010131
symbol: POLR3B
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase subunit beta; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.


ensembl_gene_id: ENSTTRP00000010148
symbol: SLC26A5
gene_biotype: protein_coding
description:
  Prestin; Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound amplification in the mammalian hearing organ; Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.


ensembl_gene_id: ENSTTRP00000010157
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: ENSTTRP00000010179
symbol: HYI
gene_biotype: protein_coding
description:
  Putative hydroxypyruvate isomerase; Catalyzes the reversible isomerization between hydroxypyruvate and 2-hydroxy-3-oxopropanoate (also termed tartronate semialdehyde); Belongs to the hyi family.


ensembl_gene_id: ENSTTRP00000010181
symbol: NTF3
gene_biotype: protein_coding
description:
  Neurotrophin-3; Seems to promote the survival of visceral and proprioceptive sensory neurons; Belongs to the NGF-beta family.


ensembl_gene_id: ENSTTRP00000010183
symbol: GABRG1
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit gamma-1; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000010203
symbol: GABRA2
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit alpha-2 isoform X1; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000010215
symbol: EMP2
gene_biotype: protein_coding
description:
  Epithelial membrane protein 2; Functions as a key regulator of cell membrane composition by regulating proteins surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion; Belongs to the PMP-22/EMP/MP20 family.


ensembl_gene_id: ENSTTRP00000010245
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: ENSTTRP00000010261
symbol: GABRB3
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit beta-3 isoform X2; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000010262
symbol: GABRA5
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit alpha-5; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000010263
symbol: GABRG3
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit gamma-3; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000010287
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: ENSTTRP00000010350
symbol: EIF4E2
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 4E type 2 isoform X1; Belongs to the eukaryotic initiation factor 4E family.


ensembl_gene_id: ENSTTRP00000010352
symbol: GABRP
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit pi isoform X1; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000010365
symbol: TOP2B
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: ENSTTRP00000010377
symbol: SRP72
gene_biotype: protein_coding
description:
  Signal recognition particle subunit SRP72; Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane; Belongs to the SRP72 family.


ensembl_gene_id: ENSTTRP00000010388
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: ENSTTRP00000010391
symbol: GUSB
gene_biotype: protein_coding
description:
  Beta-glucuronidase; Plays an important role in the degradation of dermatan and keratan sulfates; Belongs to the glycosyl hydrolase 2 family.


ensembl_gene_id: ENSTTRP00000010409
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: ENSTTRP00000010410
symbol: UGT8
gene_biotype: protein_coding
description:
  2-hydroxyacylsphingosine 1-beta-galactosyltransferase; Belongs to the UDP-glycosyltransferase family.


ensembl_gene_id: ENSTTRP00000010454
symbol: EIF3E
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit E; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSTTRP00000010474
symbol: CDC42BPA
gene_biotype: protein_coding
description:
  Non-specific serine/threonine protein kinase; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.


ensembl_gene_id: ENSTTRP00000010481
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: ENSTTRP00000010490
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: ENSTTRP00000010515
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: ENSTTRP00000010547
symbol: STARD9
gene_biotype: protein_coding
description:
  stAR-related lipid transfer protein 9; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000010589
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: ENSTTRP00000010618
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: ENSTTRP00000010621
symbol: MYO1D
gene_biotype: protein_coding
description:
  Unconventional myosin-Id isoform X1; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000010655
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: ENSTTRP00000010663
symbol: ALG3
gene_biotype: protein_coding
description:
  Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man(5)GlcNAc(2)-PP-Dol.


ensembl_gene_id: ENSTTRP00000010665
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: ENSTTRP00000010670
symbol: POLR2H
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerases I, II, and III subunit RPABC3; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non- coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively.


ensembl_gene_id: ENSTTRP00000010676
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: ENSTTRP00000010681
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: ENSTTRP00000010688
symbol: RHO
gene_biotype: protein_coding
description:
  Rhodopsin; Photoreceptor required for image-forming vision at low light intensity. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change that activates signaling via G- proteins. Signaling mediates the activation of phospholipase C (By similarity). Subsequent receptor phosphorylation mediates displacement of the bound G-protein alpha subunit by arrestin and terminates signaling (By similarity).


ensembl_gene_id: ENSTTRP00000010692
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: ENSTTRP00000010697
symbol: DDOST
gene_biotype: protein_coding
description:
  Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across t [...]


ensembl_gene_id: ENSTTRP00000010699
symbol: KIF17
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF17; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000010712
symbol: PRKACB
gene_biotype: protein_coding
description:
  cAMP-dependent protein kinase catalytic subunit beta isoform X1; Belongs to the protein kinase superfamily.


ensembl_gene_id: ENSTTRP00000010737
symbol: SULF1
gene_biotype: protein_coding
description:
  Extracellular sulfatase; Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity. It can remove sulfate from the C- 6 position of glucosamine within specific subregions of intact heparin. Belongs to the sulfatase family.


ensembl_gene_id: ENSTTRP00000010777
symbol: SLC25A12
gene_biotype: protein_coding
description:
  Calcium-binding mitochondrial carrier protein Aralar1 isoform X1; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000010779
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: ENSTTRP00000010854
symbol: HSD17B10
gene_biotype: protein_coding
description:
  3-hydroxyacyl-CoA dehydrogenase type-2; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000010872
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: ENSTTRP00000010885
symbol: GABRR3
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: gamma-aminobutyric acid receptor subunit rho-3; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000010889
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: ENSTTRP00000010913
symbol: SLC25A17
gene_biotype: protein_coding
description:
  Peroxisomal membrane protein PMP34 isoform X1; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000010956
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: ENSTTRP00000010965
symbol: SLC25A21
gene_biotype: protein_coding
description:
  Mitochondrial 2-oxodicarboxylate carrier isoform X2; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000010994
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: ENSTTRP00000011009
symbol: GPR17
gene_biotype: protein_coding
description:
  Uracil nucleotide/cysteinyl leukotriene receptor; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSTTRP00000011031
symbol: ATP6V1H
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit H; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system.


ensembl_gene_id: ENSTTRP00000011034
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: ENSTTRP00000011103
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: ENSTTRP00000011122
symbol: KMO
gene_biotype: protein_coding
description:
  Kynurenine 3-monooxygenase; Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract.


ensembl_gene_id: ENSTTRP00000011139
symbol: BRCA1
gene_biotype: protein_coding
description:
  Breast cancer type 1 susceptibility protein homolog; E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain [...]


ensembl_gene_id: ENSTTRP00000011182
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: ENSTTRP00000011204
symbol: TIMM23
gene_biotype: protein_coding
description:
  Mitochondrial import inner membrane translocase subunit TIM23; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.


ensembl_gene_id: ENSTTRP00000011234
symbol: IL1RN
gene_biotype: protein_coding
description:
  Interleukin-1 receptor antagonist protein; Inhibits the activity of IL-1 by binding to its receptor. Has no IL-1 like activity (By similarity).


ensembl_gene_id: ENSTTRP00000011235
symbol: EHD2
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: ENSTTRP00000011241
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: ENSTTRP00000011257
symbol: KREMEN1
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: ENSTTRP00000011262
symbol: SLC24A1
gene_biotype: protein_coding
description:
  Sodium/potassium/calcium exchanger 1 isoform X1; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSTTRP00000011268
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: ENSTTRP00000011298
symbol: MKNK1
gene_biotype: protein_coding
description:
  MAP kinase-interacting serine/threonine-protein kinase 1 isoform X1; Belongs to the protein kinase superfamily.


ensembl_gene_id: ENSTTRP00000011348
symbol: GABRD
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit delta; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000011349
symbol: MYO19
gene_biotype: protein_coding
description:
  Unconventional myosin-XIX isoform X4; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000011351
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: ENSTTRP00000011356
symbol: CACNA1A
gene_biotype: protein_coding
description:
  Voltage-dependent P/Q-type calcium channel subunit alpha; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q- type calcium currents.


ensembl_gene_id: ENSTTRP00000011362
symbol: DHRS11
gene_biotype: protein_coding
description:
  Dehydrogenase/reductase SDR family member 11 isoform X1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000011382
symbol: LOC101337299
gene_biotype: protein_coding
description:
  Metallothionein; Metallothioneins have a high content of cysteine residues that bind various heavy metals.


ensembl_gene_id: ENSTTRP00000011426
symbol: GABRE
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit epsilon; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000011446
symbol: HTR3A
gene_biotype: protein_coding
description:
  5-hydroxytryptamine receptor 3A isoform X1; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000011449
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: ENSTTRP00000011461
symbol: HBA
gene_biotype: protein_coding
description:
  Hemoglobin subunit alpha; Involved in oxygen transport from the lung to the various peripheral tissues.


ensembl_gene_id: ENSTTRP00000011474
symbol: GRIK4
gene_biotype: protein_coding
description:
  Glutamate receptor ionotropic, kainate 4; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family.


ensembl_gene_id: ENSTTRP00000011528
symbol: PIK3C2B
gene_biotype: protein_coding
description:
  Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSTTRP00000011536
symbol: ANAPC10
gene_biotype: protein_coding
description:
  Anaphase-promoting complex subunit 10; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin-protein ligase complex that controls progression through mitosis and the G1 phase of the cell cycle.


ensembl_gene_id: ENSTTRP00000011541
symbol: BMT2
gene_biotype: protein_coding
description:
  S-adenosylmethionine sensor upstream of mTORC1; S-adenosyl-L-methionine-binding protein that acts as an inhibitor of mTORC1 signaling via interaction with the GATOR1 and KICSTOR complexes. Acts as a sensor of S-adenosyl-L-methionine to signal methionine sufficiency to mTORC1: in presence of methionine, binds S-adenosyl-L-methionine, leading to disrupt interaction with the GATOR1 and KICSTOR complexes and promote mTORC1 signaling. Upon methionine starvation, S-adenosyl-L-methionine levels are reduced, thereby promoting the association with GATOR1 and KICSTOR, leading to inhibit mTORC1 s [...]


ensembl_gene_id: ENSTTRP00000011544
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: ENSTTRP00000011567
symbol: MYH15
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: myosin-15; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000011588
symbol: RTEL1
gene_biotype: protein_coding
description:
  Regulator of telomere elongation helicase 1; ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by  [...]


ensembl_gene_id: ENSTTRP00000011604
symbol: ATP6V1B1
gene_biotype: protein_coding
description:
  Vacuolar proton pump subunit B; Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase.


ensembl_gene_id: ENSTTRP00000011606
symbol: GTF2H4
gene_biotype: protein_coding
description:
  General transcription factor IIH subunit 4; Component of the general transcription and DNA repair factor IIH (TFIIH) core complex which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA. Belongs to the TFB2 family.


ensembl_gene_id: ENSTTRP00000011626
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: ENSTTRP00000011633
symbol: ENTPD4
gene_biotype: protein_coding
description:
  Ectonucleoside triphosphate diphosphohydrolase 4 isoform X1; Belongs to the GDA1/CD39 NTPase family.


ensembl_gene_id: ENSTTRP00000011644
symbol: CACNA1D
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: ENSTTRP00000011680
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: ENSTTRP00000011685
symbol: MAP2K4
gene_biotype: protein_coding
description:
  Dual specificity mitogen-activated protein kinase kinase 4 isoform X1; Belongs to the protein kinase superfamily.


ensembl_gene_id: ENSTTRP00000011701
symbol: KCNK10
gene_biotype: protein_coding
description:
  Potassium channel subfamily K member 10 isoform X2; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSTTRP00000011721
symbol: KIF11
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF11; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000011722
symbol: SLC5A9
gene_biotype: protein_coding
description:
  Sodium/glucose cotransporter 4 isoform X2; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.


ensembl_gene_id: ENSTTRP00000011756
symbol: PDGFRA
gene_biotype: protein_coding
description:
  Platelet-derived growth factor receptor alpha; Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development.


ensembl_gene_id: ENSTTRP00000011783
symbol: TALDO1
gene_biotype: protein_coding
description:
  Transaldolase; Transaldolase is important for the balance of metabolites in the pentose-phosphate pathway.


ensembl_gene_id: ENSTTRP00000011815
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: ENSTTRP00000011820
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: ENSTTRP00000011833
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: ENSTTRP00000011858
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: ENSTTRP00000011868
symbol: SLC5A6
gene_biotype: protein_coding
description:
  Sodium-dependent multivitamin transporter; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.


ensembl_gene_id: ENSTTRP00000011899
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: ENSTTRP00000011916
symbol: SLC25A15
gene_biotype: protein_coding
description:
  Mitochondrial ornithine transporter 1 isoform X2; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000012001
symbol: CTBP2
gene_biotype: protein_coding
description:
  C-terminal-binding protein 2 isoform X1; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.


ensembl_gene_id: ENSTTRP00000012007
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: ENSTTRP00000012024
symbol: NSUN2
gene_biotype: protein_coding
description:
  tRNA (Cytosine(34)-C(5))-methyltransferase; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSTTRP00000012038
symbol: KCNG3
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel subfamily G member 3 isoform X2; Belongs to the potassium channel family.


ensembl_gene_id: ENSTTRP00000012055
symbol: RNF168
gene_biotype: protein_coding
description:
  E3 ubiquitin-protein ligase RNF168; E3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at double-strand breaks (DSBs) by binding to ubiquitinated histone H2A and H2AX and amplifies the RNF8-dependent H2A ubiquitination, promoting the formation of 'Lys-63'-linked ubiquitin conjugates. This leads to concentrate ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and BRCA1. Also recrui [...]


ensembl_gene_id: ENSTTRP00000012079
symbol: RAN
gene_biotype: protein_coding
description:
  GTP-binding nuclear protein Ran; GTP-binding protein involved in nucleocytoplasmic transport. Required for the import of protein into the nucleus and also for RNA export. Involved in chromatin condensation and control of cell cycle. Belongs to the small GTPase superfamily. Ran family.


ensembl_gene_id: ENSTTRP00000012116
symbol: NDUFS1
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial; Belongs to the complex I 75 kDa subunit family.


ensembl_gene_id: ENSTTRP00000012175
symbol: KIF21A
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF21A isoform X2; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000012209
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: ENSTTRP00000012211
symbol: ARPC2
gene_biotype: protein_coding
description:
  Arp2/3 complex 34 kDa subunit; Functions as actin-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks.


ensembl_gene_id: ENSTTRP00000012256
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: ENSTTRP00000012274
symbol: NMD3
gene_biotype: protein_coding
description:
  60S ribosomal export protein NMD3; Acts as an adapter for the XPO1/CRM1-mediated export of the 60S ribosomal subunit; Belongs to the NMD3 family.


ensembl_gene_id: ENSTTRP00000012283
symbol: ST8SIA3
gene_biotype: protein_coding
description:
  sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSTTRP00000012297
symbol: BHMT2
gene_biotype: protein_coding
description:
  S-methylmethionine--homocysteine S-methyltransferase BHMT2; Involved in the regulation of homocysteine metabolism.


ensembl_gene_id: ENSTTRP00000012307
symbol: KRT8
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: keratin, type II cytoskeletal 8-like; Belongs to the intermediate filament family.


ensembl_gene_id: ENSTTRP00000012333
symbol: RIPK4
gene_biotype: protein_coding
description:
  Receptor-interacting serine/threonine-protein kinase 4 isoform X1; Belongs to the protein kinase superfamily.


ensembl_gene_id: ENSTTRP00000012362
symbol: IARS2
gene_biotype: protein_coding
description:
  isoleucine--tRNA ligase, mitochondrial isoform X1; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSTTRP00000012365
symbol: KCNK1
gene_biotype: protein_coding
description:
  Potassium channel subfamily K member 1; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSTTRP00000012389
symbol: MYO1A
gene_biotype: protein_coding
description:
  Unconventional myosin-Ia; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000012418
symbol: MARS1
gene_biotype: protein_coding
description:
  methionine--tRNA ligase, cytoplasmic isoform X3; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSTTRP00000012419
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: ENSTTRP00000012426
symbol: RPS3A
gene_biotype: protein_coding
description:
  40S ribosomal protein S3a; May play a role during erythropoiesis through regulation of transcription factor DDIT3.


ensembl_gene_id: ENSTTRP00000012440
symbol: SEPTIN6
gene_biotype: protein_coding
description:
  Septin-6 isoform X2; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSTTRP00000012443
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: ENSTTRP00000012457
symbol: NPFFR2
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: neuropeptide FF receptor 2; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSTTRP00000012466
symbol: PHKG2
gene_biotype: protein_coding
description:
  Phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform X2; Belongs to the protein kinase superfamily.


ensembl_gene_id: ENSTTRP00000012477
symbol: SLC25A43
gene_biotype: protein_coding
description:
  Solute carrier family 25 member 43 isoform X1; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000012487
symbol: ATP6V1C2
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit C; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.


ensembl_gene_id: ENSTTRP00000012495
symbol: ROCK2
gene_biotype: protein_coding
description:
  Rho-associated protein kinase 2 isoform X1; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.


ensembl_gene_id: ENSTTRP00000012513
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: ENSTTRP00000012529
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: ENSTTRP00000012541
symbol: SEC23B
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: ENSTTRP00000012555
symbol: SLC25A13
gene_biotype: protein_coding
description:
  Calcium-binding mitochondrial carrier protein Aralar2 isoform X2; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000012688
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: ENSTTRP00000012727
symbol: MINOS1
gene_biotype: protein_coding
description:
  MICOS complex subunit MIC10; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane.


ensembl_gene_id: ENSTTRP00000012758
symbol: LOC101322612
gene_biotype: protein_coding
description:
  Uncharacterized protein LOC109551478; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.


ensembl_gene_id: ENSTTRP00000012810
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: ENSTTRP00000012834
symbol: LIN7C
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: ENSTTRP00000012853
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: ENSTTRP00000012882
symbol: PTPA
gene_biotype: protein_coding
description:
  Serine/threonine-protein phosphatase 2A activator; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.


ensembl_gene_id: ENSTTRP00000012888
symbol: KCNK13
gene_biotype: protein_coding
description:
  Potassium channel subfamily K member 13; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSTTRP00000012907
symbol: ADGRL4
gene_biotype: protein_coding
description:
  Adhesion G protein-coupled receptor L4 isoform X1; Belongs to the G-protein coupled receptor 2 family.


ensembl_gene_id: ENSTTRP00000012955
symbol: GUCY1A2
gene_biotype: protein_coding
description:
  Guanylate cyclase soluble subunit alpha-2; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.


ensembl_gene_id: ENSTTRP00000012972
symbol: SEC61B
gene_biotype: protein_coding
description:
  Protein transport protein Sec61 subunit beta; Necessary for protein translocation in the endoplasmic reticulum.


ensembl_gene_id: ENSTTRP00000012986
symbol: UBA1
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: ubiquitin-like modifier-activating enzyme 1; Belongs to the ubiquitin-activating E1 family.


ensembl_gene_id: ENSTTRP00000013015
symbol: SHH
gene_biotype: protein_coding
description:
  Hedgehog protein; Intercellular signal essential for a variety of patterning events during development.


ensembl_gene_id: ENSTTRP00000013046
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: ENSTTRP00000013056
symbol: POR
gene_biotype: protein_coding
description:
  NADPH--cytochrome P450 reductase; This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5; In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.


ensembl_gene_id: ENSTTRP00000013106
symbol: DNM1L
gene_biotype: protein_coding
description:
  Dynamin-1-like protein isoform X2; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSTTRP00000013111
symbol: CALCRL
gene_biotype: protein_coding
description:
  Calcitonin gene-related peptide type 1 receptor; Belongs to the G-protein coupled receptor 2 family.


ensembl_gene_id: ENSTTRP00000013122
symbol: MNAT1
gene_biotype: protein_coding
description:
  CDK-activating kinase assembly factor MAT1; Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex.


ensembl_gene_id: ENSTTRP00000013124
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: ENSTTRP00000013133
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: ENSTTRP00000013150
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: ENSTTRP00000013171
symbol: USP9X
gene_biotype: protein_coding
description:
  Probable ubiquitin carboxyl-terminal hydrolase FAF-X isoform X2; Belongs to the peptidase C19 family.


ensembl_gene_id: ENSTTRP00000013185
symbol: NCBP2
gene_biotype: protein_coding
description:
  Nuclear cap-binding protein subunit 2; Component of the cap-binding complex (CBC), which binds co- transcriptionally to the 5' cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense- mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus, leading to the recruitment of the mRNA export machinery to the 5' end of mRNA and to mRNA export in a 5' to 3' direction through the nuclear pore. The CBC complex is also involved in mediating U [...]


ensembl_gene_id: ENSTTRP00000013218
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: ENSTTRP00000013219
symbol: LYZ
gene_biotype: protein_coding
description:
  Lysozyme; Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte-macrophage system and enhance the activity of immunoagents. Belongs to the glycosyl hydrolase 22 family.


ensembl_gene_id: ENSTTRP00000013237
symbol: PLN
gene_biotype: protein_coding
description:
  Cardiac phospholamban; Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN.


ensembl_gene_id: ENSTTRP00000013257
symbol: CPT1B
gene_biotype: protein_coding
description:
  Carnitine O-palmitoyltransferase 1, muscle isoform isoform X2; Belongs to the carnitine/choline acetyltransferase family.


ensembl_gene_id: ENSTTRP00000013262
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: ENSTTRP00000013267
symbol: PIK3CA
gene_biotype: protein_coding
description:
  Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSTTRP00000013302
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: ENSTTRP00000013311
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: ENSTTRP00000013335
symbol: ELOVL4
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 4; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that specifically elongates C24:0 and C26:0 acyl-CoAs. May participate to the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane  [...]


ensembl_gene_id: ENSTTRP00000013336
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: ENSTTRP00000013344
symbol: RAG1
gene_biotype: protein_coding
description:
  V(D)J recombination-activating protein 1; Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T- lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break  [...]


ensembl_gene_id: ENSTTRP00000013353
symbol: TNF
gene_biotype: protein_coding
description:
  Tumor necrosis factor, membrane form; Cytokine that binds to TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. It is mainly secreted by macrophages and can induce cell death of certain tumor cell lines. It is potent pyrogen causing fever by direct action or by stimulation of interleukin-1 secretion and is implicated in the induction of cachexia, Under certain conditions it can stimulate cell proliferation and induce cell differentiation (By similarity). Induces insulin resistance in adipocytes via inhibition of insulin-induced IRS1 tyrosine phosphorylation and insulin-induced glucose uptake. Induces  [...]


ensembl_gene_id: ENSTTRP00000013374
symbol: CSNK2B
gene_biotype: protein_coding
description:
  Casein kinase II subunit beta; Plays a complex role in regulating the basal catalytic activity of the alpha subunit; Belongs to the casein kinase 2 subunit beta family.


ensembl_gene_id: ENSTTRP00000013395
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: ENSTTRP00000013402
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: ENSTTRP00000013429
symbol: ROR1
gene_biotype: protein_coding
description:
  Inactive tyrosine-protein kinase transmembrane receptor ROR1; Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily.


ensembl_gene_id: ENSTTRP00000013430
symbol: ST8SIA1
gene_biotype: protein_coding
description:
  alpha-N-acetylneuraminide alpha-2,8-sialyltransferase isoform X1; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSTTRP00000013432
symbol: NDUFS3
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial; Belongs to the complex I 30 kDa subunit family.


ensembl_gene_id: ENSTTRP00000013468
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: ENSTTRP00000013471
symbol: CAPZB
gene_biotype: protein_coding
description:
  F-actin-capping protein subunit beta; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments.


ensembl_gene_id: ENSTTRP00000013496
symbol: SLC2A6
gene_biotype: protein_coding
description:
  Solute carrier family 2, facilitated glucose transporter member 6 isoform X1; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSTTRP00000013505
symbol: KIF26A
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF26A; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000013512
symbol: ALDH7A1
gene_biotype: protein_coding
description:
  Alpha-aminoadipic semialdehyde dehydrogenase isoform X1; Belongs to the aldehyde dehydrogenase family.


ensembl_gene_id: ENSTTRP00000013520
symbol: ADSS1
gene_biotype: protein_coding
description:
  Adenylosuccinate synthetase; Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first commited step in the biosynthesis of AMP from IMP; Belongs to the adenylosuccinate synthetase family.


ensembl_gene_id: ENSTTRP00000013526
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: ENSTTRP00000013539
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: ENSTTRP00000013548
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: ENSTTRP00000013550
symbol: SNRPD2
gene_biotype: protein_coding
description:
  Small nuclear ribonucleoprotein Sm D2; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome.


ensembl_gene_id: ENSTTRP00000013551
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: ENSTTRP00000013552
symbol: SLC24A3
gene_biotype: protein_coding
description:
  Sodium/potassium/calcium exchanger 3; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSTTRP00000013643
symbol: ST6GALNAC5
gene_biotype: protein_coding
description:
  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 isoform X1; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSTTRP00000013654
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: ENSTTRP00000013676
symbol: SLC25A19
gene_biotype: protein_coding
description:
  MIF4G domain-containing protein isoform X1; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000013711
symbol: FER
gene_biotype: protein_coding
description:
  Tyrosine-protein kinase; Belongs to the protein kinase superfamily. Tyr protein kinase family. Fes/fps subfamily.


ensembl_gene_id: ENSTTRP00000013714
symbol: SCNN1A
gene_biotype: protein_coding
description:
  Amiloride-sensitive sodium channel subunit alpha; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSTTRP00000013743
symbol: RPSA
gene_biotype: protein_coding
description:
  40S ribosomal protein SA; Required for the assembly and/or stability of the 40S ribosomal subunit. Required for the processing of the 20S rRNA- precursor to mature 18S rRNA in a late step of the maturation of 40S ribosomal subunits. Also functions as a cell surface receptor for laminin. Plays a role in cell adhesion to the basement membrane and in the consequent activation of signaling transduction pathways. May play a role in cell fate determination and tissue morphogenesis. Also acts as a receptor for several other ligands, including the pathogenic prion protein, viruses, and bacteri [...]


ensembl_gene_id: ENSTTRP00000013767
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: ENSTTRP00000013800
symbol: ARL8B
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: ADP-ribosylation factor-like protein 8B; Belongs to the small GTPase superfamily. Arf family.


ensembl_gene_id: ENSTTRP00000013802
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: ENSTTRP00000013805
symbol: IL16
gene_biotype: protein_coding
description:
  Pro-interleukin-16; Interleukin-16 stimulates a migratory response in CD4+ lymphocytes, monocytes, and eosinophils. Primes CD4+ T-cells for IL-2 and IL-15 responsiveness. Also induces T-lymphocyte expression of interleukin 2 receptor. Ligand for CD4.


ensembl_gene_id: ENSTTRP00000013820
symbol: MRPS9
gene_biotype: protein_coding
description:
  28S ribosomal protein S9, mitochondrial isoform X1; Belongs to the universal ribosomal protein uS9 family.


ensembl_gene_id: ENSTTRP00000013882
symbol: PDGFRB
gene_biotype: protein_coding
description:
  Platelet-derived growth factor receptor beta; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSTTRP00000013890
symbol: SLC24A2
gene_biotype: protein_coding
description:
  Sodium/potassium/calcium exchanger 2 isoform X1; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSTTRP00000013930
symbol: ZRANB2
gene_biotype: protein_coding
description:
  Zinc finger Ran-binding domain-containing protein 2; May interfere with constitutive 5'-splice site selection. Belongs to the ZRANB2 family.


ensembl_gene_id: ENSTTRP00000013952
symbol: EIF3B
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit B; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is involved in protein synthesis and, together with other initiation factors, stimulates binding of mRNA and methionyl-tRNAi to the 40S ribosome; Belongs to the eIF-3 subunit B family.


ensembl_gene_id: ENSTTRP00000013991
symbol: SNAPIN
gene_biotype: protein_coding
description:
  SNARE-associated protein Snapin; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking and synaptic vesicle recycling; Belongs to t [...]


ensembl_gene_id: ENSTTRP00000014017
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: ENSTTRP00000014023
symbol: SLC8A3
gene_biotype: protein_coding
description:
  Sodium/calcium exchanger 3 isoform X2; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSTTRP00000014034
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: ENSTTRP00000014038
symbol: DNMT3B
gene_biotype: protein_coding
description:
  DNA (Cytosine-5)-methyltransferase 3B; Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.


ensembl_gene_id: ENSTTRP00000014053
symbol: ABAT
gene_biotype: protein_coding
description:
  4-aminobutyrate aminotransferase, mitochondrial; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSTTRP00000014055
symbol: GDA
gene_biotype: protein_coding
description:
  Guanine deaminase; Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia; Belongs to the metallo-dependent hydrolases superfamily. ATZ/TRZ family.


ensembl_gene_id: ENSTTRP00000014062
symbol: SEPTIN11
gene_biotype: protein_coding
description:
  Septin-11 isoform X1; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSTTRP00000014100
symbol: FABP3
gene_biotype: protein_coding
description:
  Fatty acid-binding protein, heart; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSTTRP00000014114
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: ENSTTRP00000014146
symbol: HIRA
gene_biotype: protein_coding
description:
  Protein HIRA; Required for replication-independent chromatin assembly and for the periodic repression of histone gene transcription during the cell cycle; Belongs to the WD repeat HIR1 family.


ensembl_gene_id: ENSTTRP00000014151
symbol: HDAC9
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: ENSTTRP00000014203
symbol: OXSM
gene_biotype: protein_coding
description:
  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial; May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function. Belongs to the thiolase-like superfamily. Beta-ketoacyl-ACP synthases family.


ensembl_gene_id: ENSTTRP00000014230
symbol: ADGRG6
gene_biotype: protein_coding
description:
  Adhesion G-protein coupled receptor G6 isoform X1; Belongs to the G-protein coupled receptor 2 family.


ensembl_gene_id: ENSTTRP00000014288
symbol: RGR
gene_biotype: protein_coding
description:
  RPE-retinal G protein-coupled receptor isoform X1; Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.


ensembl_gene_id: ENSTTRP00000014300
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: ENSTTRP00000014303
symbol: VPS29
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 29; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway.


ensembl_gene_id: ENSTTRP00000014305
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: ENSTTRP00000014312
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: ENSTTRP00000014329
symbol: LZTS2
gene_biotype: protein_coding
description:
  Leucine zipper putative tumor suppressor 2; Negative regulator of katanin-mediated microtubule severing and release from the centrosome. Required for central spindle formation and the completion of cytokinesis. May negatively regulate axonal outgrowth by preventing the formation of microtubule bundles that are necessary for transport within the elongating axon. Negative regulator of the Wnt signaling pathway. Represses beta-catenin-mediated transcriptional activation by promoting the nuclear exclusion of beta- catenin.


ensembl_gene_id: ENSTTRP00000014340
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: ENSTTRP00000014364
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: ENSTTRP00000014392
symbol: PHKG1
gene_biotype: protein_coding
description:
  Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform X2; Belongs to the protein kinase superfamily.


ensembl_gene_id: ENSTTRP00000014402
symbol: ROCK1
gene_biotype: protein_coding
description:
  Rho-associated protein kinase; Protein kinase which is a key regulator of actin cytoskeleton and cell polarity.


ensembl_gene_id: ENSTTRP00000014405
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: ENSTTRP00000014438
symbol: EIF3J
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit J; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSTTRP00000014458
symbol: SEPTIN2
gene_biotype: protein_coding
description:
  Septin-2; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSTTRP00000014462
symbol: SLC5A11
gene_biotype: protein_coding
description:
  Sodium/myo-inositol cotransporter 2 isoform X1; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.


ensembl_gene_id: ENSTTRP00000014465
symbol: LCMT1
gene_biotype: protein_coding
description:
  Leucine carboxyl methyltransferase 1; Methylates the carboxyl group of the C-terminal leucine residue of protein phosphatase 2A catalytic subunits to form alpha- leucine ester residues; Belongs to the methyltransferase superfamily. LCMT family.


ensembl_gene_id: ENSTTRP00000014468
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: ENSTTRP00000014491
symbol: EIF3H
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit H; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSTTRP00000014556
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: ENSTTRP00000014564
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: ENSTTRP00000014566
symbol: PSMG1
gene_biotype: protein_coding
description:
  Proteasome assembly chaperone 1; Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with psmg2.


ensembl_gene_id: ENSTTRP00000014574
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: ENSTTRP00000014592
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: ENSTTRP00000014604
symbol: MAP3K7
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase 7; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.


ensembl_gene_id: ENSTTRP00000014606
symbol: PRMT9
gene_biotype: protein_coding
description:
  TPR_REGION domain-containing protein; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSTTRP00000014631
symbol: RDH12
gene_biotype: protein_coding
description:
  Retinol dehydrogenase 12 isoform X1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000014689
symbol: KIF13B
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF13B isoform X3; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000014734
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: ENSTTRP00000014744
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: ENSTTRP00000014748
symbol: ARL5A
gene_biotype: protein_coding
description:
  ADP-ribosylation factor-like protein 5A isoform X1; Belongs to the small GTPase superfamily. Arf family.


ensembl_gene_id: ENSTTRP00000014754
symbol: AMPD1
gene_biotype: protein_coding
description:
  AMP deaminase; Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.


ensembl_gene_id: ENSTTRP00000014779
symbol: B2M
gene_biotype: protein_coding
description:
  Beta-2-microglobulin; Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system.


ensembl_gene_id: ENSTTRP00000014789
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: ENSTTRP00000014793
symbol: RDH13
gene_biotype: protein_coding
description:
  Retinol dehydrogenase 13 isoform X4; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000014812
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: ENSTTRP00000014873
symbol: SLC2A8
gene_biotype: protein_coding
description:
  Solute carrier family 2, facilitated glucose transporter member 8 isoform X2; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSTTRP00000014896
symbol: NDUFA12
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSTTRP00000014937
symbol: LOC101331433
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: chymotrypsin-like elastase family member 2A; Belongs to the peptidase S1 family.


ensembl_gene_id: ENSTTRP00000014941
symbol: MYH1
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: myosin-1; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000014963
symbol: GPHN
gene_biotype: protein_coding
description:
  Molybdopterin molybdenumtransferase; Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.


ensembl_gene_id: ENSTTRP00000014969
symbol: VPS33A
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 33A isoform X1; Belongs to the STXBP/unc-18/SEC1 family.


ensembl_gene_id: ENSTTRP00000015004
symbol: MTG1
gene_biotype: protein_coding
description:
  Mitochondrial GTPase 1; Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays mitochondrial GTPase activity; Belongs to the TRAFAC class YlqF/YawG GTPase family. MTG1 subfamily.


ensembl_gene_id: ENSTTRP00000015012
symbol: RDH11
gene_biotype: protein_coding
description:
  Retinol dehydrogenase 11 isoform X1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000015021
symbol: LLGL2
gene_biotype: protein_coding
description:
  Lethal(2) giant larvae protein homolog 2; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000015026
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: ENSTTRP00000015073
symbol: SRP68
gene_biotype: protein_coding
description:
  Signal recognition particle subunit SRP68; Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane; Belongs to the SRP68 family.


ensembl_gene_id: ENSTTRP00000015080
symbol: EXOC7
gene_biotype: protein_coding
description:
  Exocyst complex component 7; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.


ensembl_gene_id: ENSTTRP00000015102
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: ENSTTRP00000015123
symbol: MRPL22
gene_biotype: protein_coding
description:
  39S ribosomal protein L22, mitochondrial isoform X3; Belongs to the universal ribosomal protein uL22 family.


ensembl_gene_id: ENSTTRP00000015135
symbol: MYO6
gene_biotype: protein_coding
description:
  Unconventional myosin-VI isoform X1; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSTTRP00000015182
symbol: GUF1
gene_biotype: protein_coding
description:
  Translation factor GUF1, mitochondrial; Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner.


ensembl_gene_id: ENSTTRP00000015226
symbol: FUT10
gene_biotype: protein_coding
description:
  Alpha-(1,3)-fucosyltransferase; Probable fucosyltransferase; Belongs to the glycosyltransferase 10 family.


ensembl_gene_id: ENSTTRP00000015239
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: ENSTTRP00000015251
symbol: NCAPD2
gene_biotype: protein_coding
description:
  Condensin complex subunit 1; Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.


ensembl_gene_id: ENSTTRP00000015252
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: ENSTTRP00000015260
symbol: NOP2
gene_biotype: protein_coding
description:
  Probable 28S rRNA (Cytosine(4447)-C(5))-methyltransferase; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSTTRP00000015290
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: ENSTTRP00000015310
symbol: RARS1
gene_biotype: protein_coding
description:
  arginine--tRNA ligase, cytoplasmic isoform X1; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSTTRP00000015319
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: ENSTTRP00000015332
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: ENSTTRP00000015354
symbol: SEPTIN7
gene_biotype: protein_coding
description:
  Septin-7 isoform X6; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSTTRP00000015363
symbol: SLC25A14
gene_biotype: protein_coding
description:
  Brain mitochondrial carrier protein 1 isoform X2; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000015374
symbol: GABRB2
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit beta-2 isoform X1; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000015380
symbol: KCND2
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel subfamily D member 2 isoform X2; Belongs to the potassium channel family.


ensembl_gene_id: ENSTTRP00000015412
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: ENSTTRP00000015420
symbol: ETFDH
gene_biotype: protein_coding
description:
  Electron transfer flavoprotein-ubiquinone oxidoreductase; Accepts electrons from ETF and reduces ubiquinone.


ensembl_gene_id: ENSTTRP00000015421
symbol: KYNU
gene_biotype: protein_coding
description:
  Kynureninase; Catalyzes the cleavage of L-kynurenine (L-Kyn) and L-3- hydroxykynurenine (L-3OHKyn) into anthranilic acid (AA) and 3- hydroxyanthranilic acid (3-OHAA), respectively. Has a preference for the L-3-hydroxy form. Also has cysteine-conjugate-beta-lyase activity. Belongs to the kynureninase family.


ensembl_gene_id: ENSTTRP00000015429
symbol: MYC
gene_biotype: protein_coding
description:
  Myc proto-oncogene protein; Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5'-CAC[GA]TG-3'. Activates the transcription of growth-related genes.


ensembl_gene_id: ENSTTRP00000015467
symbol: GAR1
gene_biotype: protein_coding
description:
  H/ACA ribonucleoprotein complex subunit; Required for ribosome biogenesis. Part of a complex which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Pseudouridine (psi) residues may serve to stabilize the conformation of rRNAs.


ensembl_gene_id: ENSTTRP00000015471
symbol: PIK3C2A
gene_biotype: protein_coding
description:
  Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform X4; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSTTRP00000015492
symbol: ENSA
gene_biotype: protein_coding
description:
  Alpha-endosulfine isoform X4; Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. Belongs to the endosulfine family.


ensembl_gene_id: ENSTTRP00000015495
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: ENSTTRP00000015499
symbol: LOC101327546
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: major histocompatibility complex class I-related gene protein; Belongs to the MHC class I family.


ensembl_gene_id: ENSTTRP00000015531
symbol: TCTA
gene_biotype: protein_coding
description:
  T-cell leukemia translocation-altered gene protein homolog; May be required for cellular fusion during osteoclastogenesis; Belongs to the TCTA family.


ensembl_gene_id: ENSTTRP00000015544
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: ENSTTRP00000015548
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: ENSTTRP00000015554
symbol: HSD17B1
gene_biotype: protein_coding
description:
  Estradiol 17-beta-dehydrogenase 1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000015555
symbol: PIGV
gene_biotype: protein_coding
description:
  GPI mannosyltransferase 2; Mannosyltransferase involved in glycosylphosphatidylinositol- anchor biosynthesis.


ensembl_gene_id: ENSTTRP00000015567
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: ENSTTRP00000015572
symbol: RHOT1
gene_biotype: protein_coding
description:
  Mitochondrial Rho GTPase; Mitochondrial GTPase involved in mitochondrial trafficking. Belongs to the mitochondrial Rho GTPase family.


ensembl_gene_id: ENSTTRP00000015575
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: ENSTTRP00000015606
symbol: FPGS
gene_biotype: protein_coding
description:
  Folylpolyglutamate synthase; Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis; Belongs to the folylpolyglutamate synthase family.


ensembl_gene_id: ENSTTRP00000015611
symbol: ST6GALNAC6
gene_biotype: protein_coding
description:
  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSTTRP00000015612
symbol: ST6GALNAC4
gene_biotype: protein_coding
description:
  ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSTTRP00000015614
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: ENSTTRP00000015617
symbol: SLC25A25
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: calcium-binding mitochondrial carrier protein SCaMC-2-like; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000015630
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: ENSTTRP00000015633
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: ENSTTRP00000015673
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: ENSTTRP00000015699
symbol: ATG7
gene_biotype: protein_coding
description:
  Ubiquitin-like modifier-activating enzyme ATG7; E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Activates ATG12 for its conjugation with ATG5 as well as the ATG8 family proteins for their conjugation with phosphatidylethanolamine. Both systems are needed for the ATG8 association to Cvt vesicles and autophagosomes membranes. Required for autophagic death induced by caspase-8 inhibition. Required for mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria [...]


ensembl_gene_id: ENSTTRP00000015701
symbol: TAMM41
gene_biotype: protein_coding
description:
  Phosphatidate cytidylyltransferase, mitochondrial; Catalyzes the formation of CDP-diacylglycerol (CDP-DAG) from phosphatidic acid (PA) in the mitochondrial inner membrane. Required for the biosynthesis of the dimeric phospholipid cardiolipin, which stabilizes supercomplexes of the mitochondrial respiratory chain in the mitochondrial inner membrane.


ensembl_gene_id: ENSTTRP00000015704
symbol: PPARG
gene_biotype: protein_coding
description:
  Peroxisome proliferator-activated receptor gamma; Nuclear receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the nuclear receptor binds to DNA specific PPAR response elements (PPRE) and modulates the transcription of its target genes, such as acyl-CoA oxidase. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis. ARF6 acts as a key regulator of the tissue-specific adipocyte P2 (aP2) enhancer. Acts as a critical regulator of gut ho [...]


ensembl_gene_id: ENSTTRP00000015705
symbol: TSEN2
gene_biotype: protein_coding
description:
  tRNA-splicing endonuclease subunit Sen2; Constitutes one of the two catalytic subunit of the tRNA- splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural [...]


ensembl_gene_id: ENSTTRP00000015760
symbol: DHRS7C
gene_biotype: protein_coding
description:
  Dehydrogenase/reductase SDR family member 7C isoform X1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000015770
symbol: LOC101334105
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: short transient receptor potential channel 2-like; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSTTRP00000015771
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: ENSTTRP00000015774
symbol: CHRNA10
gene_biotype: protein_coding
description:
  Neuronal acetylcholine receptor subunit alpha-10; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000015775
symbol: DNM2
gene_biotype: protein_coding
description:
  Dynamin-2 isoform X4; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSTTRP00000015780
symbol: CARM1
gene_biotype: protein_coding
description:
  Histone-arginine methyltransferase CARM1 isoform X2; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSTTRP00000015814
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: ENSTTRP00000015821
symbol: KIF27
gene_biotype: protein_coding
description:
  Kinesin-like protein KIF27 isoform X2; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSTTRP00000015904
symbol: CACNG4
gene_biotype: protein_coding
description:
  Voltage-dependent calcium channel gamma-4 subunit; Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (By similarity). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs), including GRIA1 and GRIA4. Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization; Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.


ensembl_gene_id: ENSTTRP00000015905
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: ENSTTRP00000015912
symbol: GABRA1
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid receptor subunit alpha-1 isoform X2; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSTTRP00000015935
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: ENSTTRP00000015947
symbol: CPT1A
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: carnitine O-palmitoyltransferase 1, liver isoform; Belongs to the carnitine/choline acetyltransferase family.


ensembl_gene_id: ENSTTRP00000015951
symbol: NDUFA10
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSTTRP00000015965
symbol: ST6GAL1
gene_biotype: protein_coding
description:
  Beta-galactoside alpha-2,6-sialyltransferase 1 isoform X1; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSTTRP00000015977
symbol: SDR16C5
gene_biotype: protein_coding
description:
  Epidermal retinol dehydrogenase 2 isoform X1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000016022
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: ENSTTRP00000016032
symbol: DNM3
gene_biotype: protein_coding
description:
  Dynamin-3 isoform X2; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSTTRP00000016061
symbol: PROSC
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: ENSTTRP00000016083
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: ENSTTRP00000016116
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: ENSTTRP00000016128
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: ENSTTRP00000016141
symbol: CUNH20orf173
gene_biotype: protein_coding
description:
  LOW QUALITY PROTEIN: uncharacterized protein C20orf173 homolog; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSTTRP00000016176
symbol: NAP1L1
gene_biotype: protein_coding
description:
  Nucleosome assembly protein 1-like 1 isoform X1; Belongs to the nucleosome assembly protein (NAP) family.


ensembl_gene_id: ENSTTRP00000016182
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. 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 epithelial fluid layer.


ensembl_gene_id: ENSTTRP00000016213
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: ENSTTRP00000016296
symbol: SLC5A8
gene_biotype: protein_coding
description:
  Sodium-coupled monocarboxylate transporter 1; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.


ensembl_gene_id: ENSTTRP00000016312
symbol: CLTC
gene_biotype: protein_coding
description:
  Clathrin heavy chain; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles; Belongs to the clathrin heavy chain family.


ensembl_gene_id: ENSTTRP00000016313
symbol: CHPT1
gene_biotype: protein_coding
description:
  Cholinephosphotransferase 1 isoform X1; Belongs to the CDP-alcohol phosphatidyltransferase class-I family.


ensembl_gene_id: ENSTTRP00000016322
symbol: RPS6KB1
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: ENSTTRP00000016386
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: ENSTTRP00000016427
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: ENSTTRP00000016435
symbol: SLC25A20
gene_biotype: protein_coding
description:
  Mitochondrial carnitine/acylcarnitine carrier protein; Belongs to the mitochondrial carrier (TC 2.A.29) family.


ensembl_gene_id: ENSTTRP00000016448
symbol: SEPTIN3
gene_biotype: protein_coding
description:
  Neuronal-specific septin-3 isoform X4; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSTTRP00000016461
symbol: NDUFA6
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. 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: ENSTTRP00000016479
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. Belongs to the glycosyltransferase 23 family.


ensembl_gene_id: ENSTTRP00000016487
symbol: SCAI
gene_biotype: protein_coding
description:
  Protein SCAI; Tumor suppressor which functions to suppress MRTFA-induced SRF transcriptional activity.


ensembl_gene_id: ENSTTRP00000016549
symbol: RDH14
gene_biotype: protein_coding
description:
  Retinol dehydrogenase 14 isoform X1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSTTRP00000016564
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: ENSTTRP00000016578
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: ENSTTRP00000016615
symbol: ND2
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 2; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSTTRP00000016616
symbol: COX1
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 1; Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1-3 form the functional core of the enzyme complex. CO I is the catalytic subunit of the enzyme. Electrons originating in cytochrome c are transferred via the copper A center of subunit 2 and heme A of subunit 1 to the bimetallic center formed by heme A3 and copper B.


ensembl_gene_id: ENSTTRP00000016617
symbol: COX2
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 2; Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1-3 form the functional core of the enzyme complex. Subunit 2 transfers the electrons from cytochrome c via its binuclear copper A center to the bimetallic center of the catalytic subunit 1.


ensembl_gene_id: ENSTTRP00000016618
symbol: ATP8
gene_biotype: protein_coding
description:
  ATP synthase protein 8; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subuni [...]


ensembl_gene_id: ENSTTRP00000016620
symbol: COX3
gene_biotype: protein_coding
description:
  Cytochrome c oxidase subunit 3; Subunits I, II and III form the functional core of the enzyme complex.


ensembl_gene_id: ENSTTRP00000016621
symbol: ND3
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 3; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSTTRP00000016622
symbol: ND4L
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 4L; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSTTRP00000016623
symbol: ND4
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 4; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSTTRP00000016624
symbol: ND5
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 5; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSTTRP00000016625
symbol: ND6
gene_biotype: protein_coding
description:
  NADH-ubiquinone oxidoreductase chain 6; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.


ensembl_gene_id: ENSTTRP00000016626
symbol: CYTB
gene_biotype: protein_coding
description:
  Cytochrome b; Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.


