# geneInfo

ensembl_gene_id: ENSUAMP00000000025
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: ENSUAMP00000000061
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: ENSUAMP00000000072
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: ENSUAMP00000000169
symbol: ENSUAMP00000000169
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: ENSUAMP00000000177
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: ENSUAMP00000000197
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: ENSUAMP00000000199
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: ENSUAMP00000000203
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: ENSUAMP00000000204
symbol: HSD17B12
gene_biotype: protein_coding
description:
  Hydroxysteroid 17-beta dehydrogenase 12; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSUAMP00000000219
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: ENSUAMP00000000241
symbol: GJB7
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: ENSUAMP00000000255
symbol: PABPC4
gene_biotype: protein_coding
description:
  Polyadenylate-binding protein; Binds the poly(A) tail of mRNA. Belongs to the polyadenylate-binding protein type-1 family.


ensembl_gene_id: ENSUAMP00000000276
symbol: SLC2A1
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 1; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSUAMP00000000287
symbol: KIF18B
gene_biotype: protein_coding
description:
  Kinesin-like protein; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000000304
symbol: ENSUAMP00000000304
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: ENSUAMP00000000305
symbol: MED6
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 6; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSUAMP00000000340
symbol: ENSUAMP00000000340
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: ENSUAMP00000000347
symbol: CNN1
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: ENSUAMP00000000353
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: ENSUAMP00000000456
symbol: CLDN19
gene_biotype: protein_coding
description:
  Claudin; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity; Belongs to the claudin family.


ensembl_gene_id: ENSUAMP00000000508
symbol: KIF1C
gene_biotype: protein_coding
description:
  Kinesin family member 1C; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000000514
symbol: KCNK16
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 16; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSUAMP00000000552
symbol: HIBCH
gene_biotype: protein_coding
description:
  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite; Belongs to the enoyl-CoA hydratase/isomerase family.


ensembl_gene_id: ENSUAMP00000000607
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: ENSUAMP00000000616
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: ENSUAMP00000000719
symbol: LSM4
gene_biotype: protein_coding
description:
  U6 snRNA-associated Sm-like protein LSm4; Binds specifically to the 3'-terminal U-tract of U6 snRNA.


ensembl_gene_id: ENSUAMP00000000769
symbol: TOP2A
gene_biotype: protein_coding
description:
  DNA topoisomerase 2; Control of topological states of DNA by transient breakage and subsequent rejoining of DNA strands. Topoisomerase II makes double- strand breaks.


ensembl_gene_id: ENSUAMP00000000806
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: ENSUAMP00000000815
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: ENSUAMP00000000824
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: ENSUAMP00000000835
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: ENSUAMP00000000838
symbol: CCR5
gene_biotype: protein_coding
description:
  C-C motif chemokine receptor 5 (gene/pseudogene); Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSUAMP00000000852
symbol: ENSUAMP00000000852
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: ENSUAMP00000000861
symbol: ELOVL1
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 1; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated C18 to C26 acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate to the production of both saturated and monounsaturated VLCFAs of different chain lengths that  [...]


ensembl_gene_id: ENSUAMP00000000887
symbol: FABP2
gene_biotype: protein_coding
description:
  Fatty acid binding protein 2; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSUAMP00000000913
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: ENSUAMP00000000946
symbol: GUCY1A1
gene_biotype: protein_coding
description:
  Guanylate cyclase 1 soluble subunit alpha 1; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.


ensembl_gene_id: ENSUAMP00000000958
symbol: MPHOSPH10
gene_biotype: protein_coding
description:
  U3 small nucleolar ribonucleoprotein protein MPP10; Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing; Belongs to the MPP10 family.


ensembl_gene_id: ENSUAMP00000000965
symbol: KIF19
gene_biotype: protein_coding
description:
  Kinesin family member 19; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000001023
symbol: PPP2R2C
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: ENSUAMP00000001024
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: ENSUAMP00000001087
symbol: ENSUAMP00000001087
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: ENSUAMP00000001189
symbol: ENSUAMP00000001189
gene_biotype: protein_coding
description:
  SHSP domain-containing protein; 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: ENSUAMP00000001235
symbol: ATP1B2
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: ENSUAMP00000001303
symbol: ENSUAMP00000001303
gene_biotype: protein_coding
description:
  DNA polymerase alpha subunit B; Accessory subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis.


ensembl_gene_id: ENSUAMP00000001327
symbol: GNGT1
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: ENSUAMP00000001369
symbol: ENSUAMP00000001369
gene_biotype: protein_coding
description:
  Lipocln_cytosolic_FA-bd_dom domain-containing protein; Belongs to the calycin superfamily. Lipocalin family.


ensembl_gene_id: ENSUAMP00000001397
symbol: HOXC9
gene_biotype: protein_coding
description:
  Homeobox protein; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Belongs to the Abd-B homeobox family.


ensembl_gene_id: ENSUAMP00000001473
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: ENSUAMP00000001487
symbol: EIF3C
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit C; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSUAMP00000001526
symbol: WNT6
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: ENSUAMP00000001543
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: ENSUAMP00000001553
symbol: sry
gene_biotype: protein_coding
description:
  Sex-determining region Y protein; Transcriptional regulator that controls a genetic switch in male development; Belongs to the SRY family.


ensembl_gene_id: ENSUAMP00000001578
symbol: HDAC2
gene_biotype: protein_coding
description:
  Histone deacetylase 2; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.


ensembl_gene_id: ENSUAMP00000001597
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: ENSUAMP00000001616
symbol: EIF3B
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit B; 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: ENSUAMP00000001635
symbol: GFRA1
gene_biotype: protein_coding
description:
  GDNF family receptor alpha-1; Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor. Belongs to the GDNFR family.


ensembl_gene_id: ENSUAMP00000001684
symbol: NOG
gene_biotype: protein_coding
description:
  Noggin; Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite.


ensembl_gene_id: ENSUAMP00000001754
symbol: ENSUAMP00000001754
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: ENSUAMP00000001819
symbol: RPS3A-2
gene_biotype: protein_coding
description:
  40S ribosomal protein S3a; May play a role during erythropoiesis through regulation of transcription factor DDIT3.


ensembl_gene_id: ENSUAMP00000001831
symbol: ACR
gene_biotype: protein_coding
description:
  Acrosin; Acrosin is the major protease of mammalian spermatozoa. It is a serine protease of trypsin-like cleavage specificity, it is synthesized in a zymogen form, proacrosin and stored in the acrosome.


ensembl_gene_id: ENSUAMP00000001992
symbol: ENSUAMP00000001992
gene_biotype: protein_coding
description:
  Protein kinase domain-containing protein; Belongs to the protein kinase superfamily. Tyr protein kinase family.


ensembl_gene_id: ENSUAMP00000002004
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: ENSUAMP00000002041
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: ENSUAMP00000002042
symbol: ATP13A1
gene_biotype: protein_coding
description:
  Cation-transporting ATPase; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.


ensembl_gene_id: ENSUAMP00000002064
symbol: LMF2
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: ENSUAMP00000002069
symbol: AP4E1
gene_biotype: protein_coding
description:
  AP-4 complex subunit epsilon; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin- associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.


ensembl_gene_id: ENSUAMP00000002072
symbol: KCNS3
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily S member 3; Belongs to the potassium channel family.


ensembl_gene_id: ENSUAMP00000002079
symbol: AQP11
gene_biotype: protein_coding
description:
  Aquaporin; Aquaporins facilitate the transport of water and small neutral solutes across cell membranes.


ensembl_gene_id: ENSUAMP00000002100
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: ENSUAMP00000002108
symbol: KIF15
gene_biotype: protein_coding
description:
  Kinesin family member 15; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000002133
symbol: ENSUAMP00000002133
gene_biotype: protein_coding
description:
  Metallothionein; Metallothioneins have a high content of cysteine residues that bind various heavy metals.


ensembl_gene_id: ENSUAMP00000002170
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: ENSUAMP00000002276
symbol: BEST1
gene_biotype: protein_coding
description:
  Bestrophin; Forms calcium-sensitive chloride channels. Permeable to bicarbonate; Belongs to the bestrophin family.


ensembl_gene_id: ENSUAMP00000002277
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: ENSUAMP00000002284
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: ENSUAMP00000002302
symbol: ASIC2
gene_biotype: protein_coding
description:
  Acid sensing ion channel subunit 2; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSUAMP00000002435
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: ENSUAMP00000002497
symbol: RHBDL3
gene_biotype: protein_coding
description:
  Rhomboid-related protein 3; May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors; Belongs to the peptidase S54 family.


ensembl_gene_id: ENSUAMP00000002517
symbol: PIM3
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase; Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PIM subfamily.


ensembl_gene_id: ENSUAMP00000002553
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: ENSUAMP00000002596
symbol: TTR
gene_biotype: protein_coding
description:
  Transthyretin; Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.


ensembl_gene_id: ENSUAMP00000002680
symbol: ENSUAMP00000002680
gene_biotype: protein_coding
description:
  Dynamin-type G domain-containing protein; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSUAMP00000002778
symbol: ENSUAMP00000002778
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: ENSUAMP00000002779
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: ENSUAMP00000002833
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: ENSUAMP00000002866
symbol: NMT2
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: ENSUAMP00000002868
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: ENSUAMP00000002870
symbol: DSG4
gene_biotype: protein_coding
description:
  Desmoglein 4; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSUAMP00000002887
symbol: DSG3
gene_biotype: protein_coding
description:
  Desmoglein 3; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSUAMP00000002948
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: ENSUAMP00000002964
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: ENSUAMP00000003049
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: ENSUAMP00000003131
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: ENSUAMP00000003230
symbol: DYNC1LI2
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: ENSUAMP00000003284
symbol: AK3
gene_biotype: protein_coding
description:
  GTP:AMP phosphotransferase AK3, mitochondrial; Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has GTP:AMP phosphotransferase and ITP:AMP phosphotransferase activities.


ensembl_gene_id: ENSUAMP00000003287
symbol: SLC9A6
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: ENSUAMP00000003313
symbol: ENSUAMP00000003313
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: ENSUAMP00000003416
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: ENSUAMP00000003437
symbol: PPME1
gene_biotype: protein_coding
description:
  Protein phosphatase methylesterase 1; Demethylates proteins that have been reversibly carboxymethylated.


ensembl_gene_id: ENSUAMP00000003479
symbol: ENSUAMP00000003479
gene_biotype: protein_coding
description:
  Septin-type G domain-containing protein; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSUAMP00000003497
symbol: ENSUAMP00000003497
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: ENSUAMP00000003562
symbol: ENSUAMP00000003562
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: ENSUAMP00000003643
symbol: ENSUAMP00000003643
gene_biotype: protein_coding
description:
  Small nuclear ribonucleoprotein E; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. As part of the U7 snRNP it is involved in histone 3'-end processing. May indirectly play a role in hair development.


ensembl_gene_id: ENSUAMP00000003698
symbol: ENSUAMP00000003698
gene_biotype: protein_coding
description:
  Uncharacterized protein; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSUAMP00000003741
symbol: USP10
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: ENSUAMP00000003744
symbol: GABRR3
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor rho3 subunit (gene/pseudogene); Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000003750
symbol: DUSP1
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: ENSUAMP00000003767
symbol: SNU13
gene_biotype: protein_coding
description:
  Ribonucloprotein; Common component of the spliceosome and rRNA processing machinery; Belongs to the eukaryotic ribosomal protein eL8 family.


ensembl_gene_id: ENSUAMP00000003773
symbol: ENSUAMP00000003773
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: ENSUAMP00000003828
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: ENSUAMP00000003835
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: ENSUAMP00000003846
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: ENSUAMP00000003928
symbol: GYS2
gene_biotype: protein_coding
description:
  Glycogen [starch] synthase; Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan.


ensembl_gene_id: ENSUAMP00000003941
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: ENSUAMP00000003966
symbol: ENSUAMP00000003966
gene_biotype: protein_coding
description:
  MFS domain-containing protein; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSUAMP00000004058
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: ENSUAMP00000004088
symbol: NSUN4
gene_biotype: protein_coding
description:
  NOP2/Sun RNA methyltransferase 4; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSUAMP00000004134
symbol: ENSUAMP00000004134
gene_biotype: protein_coding
description:
  Myosin motor domain-containing protein; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSUAMP00000004137
symbol: ENSUAMP00000004137
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: ENSUAMP00000004249
symbol: SEPTIN7
gene_biotype: protein_coding
description:
  Septin 7; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSUAMP00000004313
symbol: ENSUAMP00000004313
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: ENSUAMP00000004345
symbol: GMPR
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: ENSUAMP00000004361
symbol: SLC8A1
gene_biotype: protein_coding
description:
  Solute carrier family 8 member A1; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSUAMP00000004370
symbol: ENSUAMP00000004370
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: ENSUAMP00000004371
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: ENSUAMP00000004463
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: ENSUAMP00000004469
symbol: STAR
gene_biotype: protein_coding
description:
  Steroidogenic acute regulatory protein, mitochondrial; Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone. Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where it is cleaved to pregnenolone.


ensembl_gene_id: ENSUAMP00000004477
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: ENSUAMP00000004510
symbol: GABRG3
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor gamma3 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000004563
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: ENSUAMP00000004568
symbol: ENSUAMP00000004568
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: ENSUAMP00000004644
symbol: PLCB2
gene_biotype: protein_coding
description:
  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes.


ensembl_gene_id: ENSUAMP00000004702
symbol: BPGM
gene_biotype: protein_coding
description:
  Phosphoglycerate mutase; Belongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily.


ensembl_gene_id: ENSUAMP00000004757
symbol: GLDC
gene_biotype: protein_coding
description:
  Glycine cleavage system P protein; The glycine cleavage system catalyzes the degradation of glycine.


ensembl_gene_id: ENSUAMP00000004779
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: ENSUAMP00000004802
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: ENSUAMP00000004819
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: ENSUAMP00000004827
symbol: ENSUAMP00000004827
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: ENSUAMP00000004851
symbol: ENSUAMP00000004851
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: ENSUAMP00000004853
symbol: PTK2B
gene_biotype: protein_coding
description:
  Protein tyrosine kinase 2 beta; Belongs to the protein kinase superfamily. Tyr protein kinase family.


ensembl_gene_id: ENSUAMP00000004951
symbol: FLT4
gene_biotype: protein_coding
description:
  Fms related tyrosine kinase 4; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSUAMP00000005135
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: ENSUAMP00000005139
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: ENSUAMP00000005148
symbol: MAP4K1
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase kinase 1; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.


ensembl_gene_id: ENSUAMP00000005162
symbol: CHRD
gene_biotype: protein_coding
description:
  Chordin; Dorsalizing factor. Key developmental protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta family bone morphogenetic proteins (BMPs) and sequestering them in latent complexes.


ensembl_gene_id: ENSUAMP00000005175
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: ENSUAMP00000005213
symbol: ATP2C2
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: ENSUAMP00000005284
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: ENSUAMP00000005353
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: ENSUAMP00000005411
symbol: KIF13A
gene_biotype: protein_coding
description:
  Kinesin family member 13A; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000005476
symbol: SLC24A3
gene_biotype: protein_coding
description:
  Solute carrier family 24 member 3; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSUAMP00000005524
symbol: GABRQ
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor theta subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000005551
symbol: ENTPD5
gene_biotype: protein_coding
description:
  Ectonucleoside triphosphate diphosphohydrolase 5 (inactive); Belongs to the GDA1/CD39 NTPase family.


ensembl_gene_id: ENSUAMP00000005554
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: ENSUAMP00000005566
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: ENSUAMP00000005576
symbol: CACNA1S
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: ENSUAMP00000005578
symbol: ENSUAMP00000005578
gene_biotype: protein_coding
description:
  Interleukin-4; Participates in at least several B-cell activation processes as well as of other cell types. It is a costimulator of DNA-synthesis. It induces the expression of class II MHC molecules on resting B-cells. It enhances both secretion and cell surface expression of IgE and IgG1. It also regulates the expression of the low affinity Fc receptor for IgE (CD23) on both lymphocytes and monocytes. Belongs to the IL-4/IL-13 family.


ensembl_gene_id: ENSUAMP00000005587
symbol: ENSUAMP00000005587
gene_biotype: protein_coding
description:
  Kinesin motor domain-containing protein; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000005617
symbol: ENSUAMP00000005617
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: ENSUAMP00000005687
symbol: KCNS2
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily S member 2; Belongs to the potassium channel family.


ensembl_gene_id: ENSUAMP00000005700
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: ENSUAMP00000005717
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: ENSUAMP00000005737
symbol: DUSP10
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 10; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSUAMP00000005810
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: ENSUAMP00000005839
symbol: SUPT4H1
gene_biotype: protein_coding
description:
  Transcription elongation factor SPT4; Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates transcription elongation by RNA polymerase II; Belongs to the SPT4 family.


ensembl_gene_id: ENSUAMP00000005844
symbol: ENSUAMP00000005844
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.


ensembl_gene_id: ENSUAMP00000005973
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: ENSUAMP00000006018
symbol: MYD88
gene_biotype: protein_coding
description:
  Myeloid differentiation primary response protein MyD88; Adapter protein involved in the Toll-like receptor and IL-1 receptor signaling pathway in the innate immune response.


ensembl_gene_id: ENSUAMP00000006049
symbol: ATP8B3
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: ENSUAMP00000006054
symbol: KCNG4
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily G member 4; Belongs to the potassium channel family.


ensembl_gene_id: ENSUAMP00000006087
symbol: HSDL1
gene_biotype: protein_coding
description:
  Hydroxysteroid dehydrogenase like 1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSUAMP00000006161
symbol: MED11
gene_biotype: protein_coding
description:
  Mediator of RNA polymerase II transcription subunit 11; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.


ensembl_gene_id: ENSUAMP00000006228
symbol: PIK3CG
gene_biotype: protein_coding
description:
  Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSUAMP00000006314
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: ENSUAMP00000006336
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: ENSUAMP00000006413
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: ENSUAMP00000006432
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: ENSUAMP00000006477
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: ENSUAMP00000006547
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: ENSUAMP00000006559
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: ENSUAMP00000006576
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: ENSUAMP00000006580
symbol: PEMT
gene_biotype: protein_coding
description:
  Phosphatidylethanolamine N-methyltransferase; Catalyzes the three sequential steps of the methylation pathway of phosphatidylcholine biosynthesis, the SAM-dependent methylation of phosphatidylethanolamine (PE) to phosphatidylmonomethylethanolamine (PMME), PMME to phosphatidyldimethylethanolamine (PDME), and PDME to phosphatidylcholine (PC); Belongs to the class VI-like SAM-binding methyltransferase superfamily. PEMT/PEM2 methyltransferase family.


ensembl_gene_id: ENSUAMP00000006627
symbol: GRIN3B
gene_biotype: protein_coding
description:
  Glutamate ionotropic receptor NMDA type subunit 3B; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family.


ensembl_gene_id: ENSUAMP00000006652
symbol: TUBGCP3
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: ENSUAMP00000006684
symbol: RPS6KB2
gene_biotype: protein_coding
description:
  Ribosomal protein S6 kinase; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily.


ensembl_gene_id: ENSUAMP00000006716
symbol: GRK2
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: ENSUAMP00000006771
symbol: FABP12
gene_biotype: protein_coding
description:
  Fatty acid binding protein 12; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSUAMP00000006786
symbol: AP2M1
gene_biotype: protein_coding
description:
  AP-2 complex subunit mu; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but i [...]


ensembl_gene_id: ENSUAMP00000006885
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: ENSUAMP00000006927
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: ENSUAMP00000006931
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: ENSUAMP00000006983
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: ENSUAMP00000006995
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: ENSUAMP00000007023
symbol: OAT
gene_biotype: protein_coding
description:
  Ornithine aminotransferase; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSUAMP00000007077
symbol: PLG
gene_biotype: protein_coding
description:
  Plasminogen; Plasmin dissolves the fibrin of blood clots and acts as a proteolytic factor in a variety of other processes including embryonic development, tissue remodeling, tumor invasion, and inflammation. In ovulation, weakens the walls of the Graafian follicle. It activates the urokinase-type plasminogen activator, collagenases and several complement zymogens, such as C1 and C5. Cleavage of fibronectin and laminin leads to cell detachment and apoptosis. Also cleaves fibrin, thrombospondin and von Willebrand factor. Its role in tissue remodeling and tumor invasion may be modulated b [...]


ensembl_gene_id: ENSUAMP00000007100
symbol: HS6ST1
gene_biotype: protein_coding
description:
  Heparan-sulfate 6-O-sulfotransferase; 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate.


ensembl_gene_id: ENSUAMP00000007187
symbol: LIM2
gene_biotype: protein_coding
description:
  Lens fiber membrane intrinsic protein; Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis; Belongs to the PMP-22/EMP/MP20 family.


ensembl_gene_id: ENSUAMP00000007189
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: ENSUAMP00000007263
symbol: RRH
gene_biotype: protein_coding
description:
  Retinal pigment epithelium-derived rhodopsin homolog; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSUAMP00000007329
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: ENSUAMP00000007443
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: ENSUAMP00000007500
symbol: CARM1
gene_biotype: protein_coding
description:
  Coactivator associated arginine methyltransferase 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSUAMP00000007501
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: ENSUAMP00000007549
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: ENSUAMP00000007628
symbol: KCNK18
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 18; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSUAMP00000007701
symbol: PRKCB
gene_biotype: protein_coding
description:
  Protein kinase C; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily.


ensembl_gene_id: ENSUAMP00000007724
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: ENSUAMP00000007782
symbol: ENSUAMP00000007782
gene_biotype: protein_coding
description:
  Glycine cleavage system H protein; The H protein shuttles the methylamine group of glycine from the P protein to the T protein; Belongs to the GcvH family.


ensembl_gene_id: ENSUAMP00000007836
symbol: PLCG2
gene_biotype: protein_coding
description:
  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma; Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades.


ensembl_gene_id: ENSUAMP00000007838
symbol: CAPZA1
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: ENSUAMP00000007936
symbol: FABP7
gene_biotype: protein_coding
description:
  Fatty acid binding protein 7; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSUAMP00000007949
symbol: MAP4K3
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase kinase 3; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.


ensembl_gene_id: ENSUAMP00000008002
symbol: PES1
gene_biotype: protein_coding
description:
  Pescadillo homolog; Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome; Belongs to the pescadillo family.


ensembl_gene_id: ENSUAMP00000008015
symbol: DUSP18
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 18; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSUAMP00000008110
symbol: NCBP2L
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: ENSUAMP00000008114
symbol: AMPD2
gene_biotype: protein_coding
description:
  AMP deaminase; Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.


ensembl_gene_id: ENSUAMP00000008123
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: ENSUAMP00000008200
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: ENSUAMP00000008238
symbol: RGR
gene_biotype: protein_coding
description:
  Retinal G protein coupled receptor; Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.


ensembl_gene_id: ENSUAMP00000008244
symbol: AARS1
gene_biotype: protein_coding
description:
  Alanyl-tRNA synthetase; Catalyzes the attachment of alanine to tRNA(Ala) in a two- step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain. Belongs to the class-II aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSUAMP00000008299
symbol: MPV17
gene_biotype: protein_coding
description:
  Mitochondrial inner membrane protein MPV17; Belongs to the peroxisomal membrane protein PXMP2/4 family.


ensembl_gene_id: ENSUAMP00000008308
symbol: EIF2B4
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 2B subunit delta; Belongs to the eIF-2B alpha/beta/delta subunits family.


ensembl_gene_id: ENSUAMP00000008478
symbol: CYB5R2
gene_biotype: protein_coding
description:
  NADH-cytochrome b5 reductase; Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.


ensembl_gene_id: ENSUAMP00000008485
symbol: DNMT1
gene_biotype: protein_coding
description:
  DNA methyltransferase 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.


ensembl_gene_id: ENSUAMP00000008499
symbol: NUBP1
gene_biotype: protein_coding
description:
  Cytosolic Fe-S cluster assembly factor NUBP1; Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery. Required for maturation of extramitochondrial Fe-S proteins. The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins. Implicated in the regulation of centrosome duplication; Belongs to the Mrp/NBP35 ATP-binding proteins family. NUBP1/NBP35 subfamily.


ensembl_gene_id: ENSUAMP00000008545
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: ENSUAMP00000008549
symbol: AMT
gene_biotype: protein_coding
description:
  Aminomethyltransferase; The glycine cleavage system catalyzes the degradation of glycine; Belongs to the GcvT family.


ensembl_gene_id: ENSUAMP00000008551
symbol: ADCY2
gene_biotype: protein_coding
description:
  Adenylate cyclase type 2; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSUAMP00000008575
symbol: ENSUAMP00000008575
gene_biotype: protein_coding
description:
  GPN-loop GTPase; Small GTPase required for proper nuclear import of RNA polymerase II (RNAPII). May act at an RNAP assembly step prior to nuclear import.


ensembl_gene_id: ENSUAMP00000008584
symbol: EIF3G
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit G; RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termi [...]


ensembl_gene_id: ENSUAMP00000008605
symbol: CAV2
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: ENSUAMP00000008612
symbol: DMC1
gene_biotype: protein_coding
description:
  Meiotic recombination protein; May participate in meiotic recombination, specifically in homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks; Belongs to the RecA family. DMC1 subfamily.


ensembl_gene_id: ENSUAMP00000008645
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: ENSUAMP00000008666
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: ENSUAMP00000008706
symbol: IMPDH1
gene_biotype: protein_coding
description:
  Inosine-5'-monophosphate dehydrogenase; Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.


ensembl_gene_id: ENSUAMP00000008710
symbol: ADCY3
gene_biotype: protein_coding
description:
  Adenylate cyclase type 3; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSUAMP00000008719
symbol: ATP6V0A1
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: ENSUAMP00000008722
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: ENSUAMP00000008728
symbol: HSD17B1
gene_biotype: protein_coding
description:
  Hydroxysteroid 17-beta dehydrogenase 1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSUAMP00000008732
symbol: NOSIP
gene_biotype: protein_coding
description:
  Nitric oxide synthase-interacting protein; Negatively regulates nitric oxide production by inducing NOS1 and NOS3 translocation to actin cytoskeleton and inhibiting their enzymatic activity; Belongs to the NOSIP family.


ensembl_gene_id: ENSUAMP00000008756
symbol: TUBG2
gene_biotype: protein_coding
description:
  Tubulin gamma chain; Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome.


ensembl_gene_id: ENSUAMP00000008805
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: ENSUAMP00000008837
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: ENSUAMP00000008859
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: ENSUAMP00000008861
symbol: ENSUAMP00000008861
gene_biotype: protein_coding
description:
  Uncharacterized protein; Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. Belongs to the endosulfine family.


ensembl_gene_id: ENSUAMP00000008871
symbol: ENSUAMP00000008871
gene_biotype: protein_coding
description:
  Autophagy-related protein 9; Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle. Belongs to the ATG9 family.


ensembl_gene_id: ENSUAMP00000008888
symbol: PRMT1
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSUAMP00000008944
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: ENSUAMP00000008949
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: ENSUAMP00000009049
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: ENSUAMP00000009091
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: ENSUAMP00000009110
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: ENSUAMP00000009162
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: ENSUAMP00000009167
symbol: MED15-2
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: ENSUAMP00000009276
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: ENSUAMP00000009282
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: ENSUAMP00000009303
symbol: METAP1D
gene_biotype: protein_coding
description:
  Methionine aminopeptidase; Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met- Ala-, Cys, Gly, Pro, Ser, Thr, or Val).


ensembl_gene_id: ENSUAMP00000009333
symbol: ENSUAMP00000009333
gene_biotype: protein_coding
description:
  Uncharacterized protein; Cell surface proteoglycan that bears heparan sulfate. Belongs to the glypican family.


ensembl_gene_id: ENSUAMP00000009419
symbol: DUSP14
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 14; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSUAMP00000009438
symbol: CTPS2
gene_biotype: protein_coding
description:
  CTP synthase; Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen.


ensembl_gene_id: ENSUAMP00000009462
symbol: IDH2
gene_biotype: protein_coding
description:
  Isocitrate dehydrogenase [NADP]; Belongs to the isocitrate and isopropylmalate dehydrogenases family.


ensembl_gene_id: ENSUAMP00000009521
symbol: MPC2
gene_biotype: protein_coding
description:
  Mitochondrial pyruvate carrier; Mediates the uptake of pyruvate into mitochondria. Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family.


ensembl_gene_id: ENSUAMP00000009526
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: ENSUAMP00000009558
symbol: PKMYT1
gene_biotype: protein_coding
description:
  Protein kinase, membrane associated tyrosine/threonine 1; Belongs to the protein kinase superfamily.


ensembl_gene_id: ENSUAMP00000009563
symbol: KREMEN2
gene_biotype: protein_coding
description:
  Kremen protein; Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6.


ensembl_gene_id: ENSUAMP00000009586
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: ENSUAMP00000009621
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: ENSUAMP00000009657
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: ENSUAMP00000009676
symbol: CHRNA6
gene_biotype: protein_coding
description:
  Cholinergic receptor nicotinic alpha 6 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000009684
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: ENSUAMP00000009711
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: ENSUAMP00000009721
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: ENSUAMP00000009732
symbol: PRKD1
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.


ensembl_gene_id: ENSUAMP00000009758
symbol: SLC8A3
gene_biotype: protein_coding
description:
  Solute carrier family 8 member A3; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSUAMP00000009789
symbol: ENSUAMP00000009789
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: ENSUAMP00000009812
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: ENSUAMP00000009920
symbol: SLC2A9
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 9; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSUAMP00000009956
symbol: GABRA1
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor alpha1 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000009995
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: ENSUAMP00000010014
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: ENSUAMP00000010037
symbol: ATF2
gene_biotype: protein_coding
description:
  Cyclic AMP-dependent transcription factor ATF-2; Transcriptional activator which regulates the transcription of various genes, including those involved in anti-apoptosis, cell growth, and DNA damage response. Dependent on its binding partner, binds to CRE (cAMP response element) consensus sequences (5'-TGACGTCA- 3') or to AP-1 (activator protein 1) consensus sequences (5'-TGACTCA- 3'); Belongs to the bZIP family.


ensembl_gene_id: ENSUAMP00000010114
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: ENSUAMP00000010131
symbol: PC
gene_biotype: protein_coding
description:
  Pyruvate carboxylase; Catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second.


ensembl_gene_id: ENSUAMP00000010165
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: ENSUAMP00000010175
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: ENSUAMP00000010176
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: ENSUAMP00000010336
symbol: RRS1
gene_biotype: protein_coding
description:
  Ribosome biogenesis regulatory protein; Involved in ribosomal large subunit assembly. Belongs to the RRS1 family.


ensembl_gene_id: ENSUAMP00000010352
symbol: ST8SIA5
gene_biotype: protein_coding
description:
  ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSUAMP00000010384
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: ENSUAMP00000010385
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.


ensembl_gene_id: ENSUAMP00000010401
symbol: AP2A1
gene_biotype: protein_coding
description:
  AP-2 complex subunit alpha; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold bu [...]


ensembl_gene_id: ENSUAMP00000010403
symbol: ENSUAMP00000010403
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: ENSUAMP00000010468
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: ENSUAMP00000010517
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: ENSUAMP00000010530
symbol: C1GALT1
gene_biotype: protein_coding
description:
  Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1; Glycosyltransferase that generates the core 1 O-glycan Gal- beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins; Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.


ensembl_gene_id: ENSUAMP00000010553
symbol: TRMT6
gene_biotype: protein_coding
description:
  tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6; Substrate-binding subunit of tRNA (adenine-N1-)- methyltransferase, which catalyzes the formation of N1-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA.


ensembl_gene_id: ENSUAMP00000010588
symbol: MBOAT7
gene_biotype: protein_coding
description:
  Membrane bound O-acyltransferase domain containing 7; Belongs to the membrane-bound acyltransferase family.


ensembl_gene_id: ENSUAMP00000010592
symbol: TSEN34
gene_biotype: protein_coding
description:
  tRNA-splicing endonuclease subunit Sen34; Constitutes one of the two catalytic subunit of the tRNA- splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structura [...]


ensembl_gene_id: ENSUAMP00000010633
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: ENSUAMP00000010664
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: ENSUAMP00000010677
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: ENSUAMP00000010680
symbol: ADSS1
gene_biotype: protein_coding
description:
  Adenylosuccinate synthetase isozyme 1; Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first commited step in the biosynthesis of AMP from IMP.


ensembl_gene_id: ENSUAMP00000010743
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: ENSUAMP00000010825
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: ENSUAMP00000010845
symbol: HADHB
gene_biotype: protein_coding
description:
  Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta; Belongs to the thiolase-like superfamily. Thiolase family.


ensembl_gene_id: ENSUAMP00000010852
symbol: PHKA2
gene_biotype: protein_coding
description:
  Phosphorylase b kinase regulatory subunit; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I.


ensembl_gene_id: ENSUAMP00000010855
symbol: HADHA
gene_biotype: protein_coding
description:
  Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha; Belongs to the enoyl-CoA hydratase/isomerase family.


ensembl_gene_id: ENSUAMP00000010880
symbol: PEX12
gene_biotype: protein_coding
description:
  Peroxisome assembly protein 12; Required for protein import into peroxisomes. Belongs to the pex2/pex10/pex12 family.


ensembl_gene_id: ENSUAMP00000010906
symbol: AP4M1
gene_biotype: protein_coding
description:
  AP-4 complex subunit mu-1; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin- associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asym [...]


ensembl_gene_id: ENSUAMP00000010907
symbol: ENSUAMP00000010907
gene_biotype: protein_coding
description:
  Elongation factor 1-alpha; This protein promotes the GTP-dependent binding of aminoacyl- tRNA to the A-site of ribosomes during protein biosynthesis.


ensembl_gene_id: ENSUAMP00000010914
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: ENSUAMP00000010957
symbol: ENSUAMP00000010957
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: ENSUAMP00000011009
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: ENSUAMP00000011014
symbol: ENSUAMP00000011014
gene_biotype: protein_coding
description:
  Cyclic AMP-dependent transcription factor ATF-7; Plays important functions in early cell signaling. Binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AG][AG]-3'), a sequence present in many viral and cellular promoters.


ensembl_gene_id: ENSUAMP00000011029
symbol: TARBP2
gene_biotype: protein_coding
description:
  RISC-loading complex subunit TARBP2; Required for formation of the RNA induced silencing complex (RISC). Component of the RISC loading complex (RLC), also known as the micro-RNA (miRNA) loading complex (miRLC), which is composed of DICER1, AGO2 and TARBP2. Within the RLC/miRLC, DICER1 and TARBP2 are required to process precursor miRNAs (pre-miRNAs) to mature miRNAs and then load them onto AGO2. AGO2 bound to the mature miRNA constitutes the minimal RISC and may subsequently dissociate from DICER1 and TARBP2. May also play a role in the production of short interfering RNAs (siRNAs) from [...]


ensembl_gene_id: ENSUAMP00000011032
symbol: PTPN21
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: ENSUAMP00000011045
symbol: TUBA4A
gene_biotype: protein_coding
description:
  Tubulin alpha 4a; 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: ENSUAMP00000011052
symbol: KCNK5
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 5; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSUAMP00000011057
symbol: TPST1
gene_biotype: protein_coding
description:
  Protein-tyrosine sulfotransferase; Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3'-phosphoadenylyl sulfate (PAPS) as cosubstrate; Belongs to the protein sulfotransferase family.


ensembl_gene_id: ENSUAMP00000011075
symbol: ENSUAMP00000011075
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: ENSUAMP00000011083
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: ENSUAMP00000011107
symbol: ENSUAMP00000011107
gene_biotype: protein_coding
description:
  Uncharacterized protein; 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: ENSUAMP00000011157
symbol: MARS2
gene_biotype: protein_coding
description:
  Methionyl-tRNA synthetase 2, mitochondrial; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSUAMP00000011225
symbol: WDR12
gene_biotype: protein_coding
description:
  Ribosome biogenesis protein WDR12; Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.


ensembl_gene_id: ENSUAMP00000011253
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: ENSUAMP00000011293
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: ENSUAMP00000011346
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: ENSUAMP00000011396
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: ENSUAMP00000011400
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: ENSUAMP00000011412
symbol: ENSUAMP00000011412
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: ENSUAMP00000011420
symbol: ENSUAMP00000011420
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: ENSUAMP00000011452
symbol: SFT2D1
gene_biotype: protein_coding
description:
  Vesicle transport protein; May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex. Belongs to the SFT2 family.


ensembl_gene_id: ENSUAMP00000011486
symbol: HACD4
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: ENSUAMP00000011516
symbol: PGAP3
gene_biotype: protein_coding
description:
  Post-GPI attachment to proteins factor 3; Involved in the lipid remodeling steps of GPI-anchor maturation; Belongs to the PGAP3 family.


ensembl_gene_id: ENSUAMP00000011527
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: ENSUAMP00000011578
symbol: NAXD
gene_biotype: protein_coding
description:
  ATP-dependent (S)-NAD(P)H-hydrate dehydratase; Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S-and R-forms, the enzyme allows the repair of both epimers of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. Belongs to the NnrD/CARKD family.


ensembl_gene_id: ENSUAMP00000011690
symbol: TRPC3
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily C member 3; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSUAMP00000011715
symbol: ENSUAMP00000011715
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: ENSUAMP00000011719
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: ENSUAMP00000011802
symbol: ENSUAMP00000011802
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: ENSUAMP00000011881
symbol: KDSR
gene_biotype: protein_coding
description:
  3-ketodihydrosphingosine reductase; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSUAMP00000011907
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: ENSUAMP00000011968
symbol: ENSUAMP00000011968
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: ENSUAMP00000012072
symbol: NDUFV1
gene_biotype: protein_coding
description:
  NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain.


ensembl_gene_id: ENSUAMP00000012155
symbol: CEPT1
gene_biotype: protein_coding
description:
  Choline/ethanolamine phosphotransferase 1; Belongs to the CDP-alcohol phosphatidyltransferase class-I family.


ensembl_gene_id: ENSUAMP00000012166
symbol: ENSUAMP00000012166
gene_biotype: protein_coding
description:
  FABP domain-containing protein; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSUAMP00000012169
symbol: PMP2
gene_biotype: protein_coding
description:
  Peripheral myelin protein 2; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSUAMP00000012171
symbol: HPRT1
gene_biotype: protein_coding
description:
  Hypoxanthine phosphoribosyltransferase; Belongs to the purine/pyrimidine phosphoribosyltransferase family.


ensembl_gene_id: ENSUAMP00000012199
symbol: FABP9
gene_biotype: protein_coding
description:
  Fatty acid binding protein 9; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSUAMP00000012206
symbol: FABP4
gene_biotype: protein_coding
description:
  Fatty acid binding protein 4; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSUAMP00000012240
symbol: AVPR2
gene_biotype: protein_coding
description:
  Vasopressin V2 receptor; Involved in renal water reabsorption. Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase; Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.


ensembl_gene_id: ENSUAMP00000012453
symbol: PPP1R3C
gene_biotype: protein_coding
description:
  Protein phosphatase 1 regulatory subunit 3C; Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown.


ensembl_gene_id: ENSUAMP00000012476
symbol: ENSUAMP00000012476
gene_biotype: protein_coding
description:
  2-oxoisovalerate dehydrogenase subunit alpha; The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).


ensembl_gene_id: ENSUAMP00000012519
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: ENSUAMP00000012526
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: ENSUAMP00000012831
symbol: ENSUAMP00000012831
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: ENSUAMP00000012877
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: ENSUAMP00000012942
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: ENSUAMP00000012955
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: ENSUAMP00000012985
symbol: ENSUAMP00000012985
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: ENSUAMP00000013060
symbol: BCAT2
gene_biotype: protein_coding
description:
  Branched-chain-amino-acid aminotransferase; Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSUAMP00000013110
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: ENSUAMP00000013165
symbol: RBFOX2
gene_biotype: protein_coding
description:
  RNA binding protein fox-1 homolog 2; RNA-binding protein that regulates alternative splicing events.


ensembl_gene_id: ENSUAMP00000013187
symbol: AGO2
gene_biotype: protein_coding
description:
  Protein argonaute-2; Required for RNA-mediated gene silencing (RNAi) by the RNA- induced silencing complex (RISC). The 'minimal RISC' appears to include AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs direct RISC to complementary mRNAs that are targets for RISC-mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due to endonucleolytic cleavage of the [...]


ensembl_gene_id: ENSUAMP00000013264
symbol: DNMT3A
gene_biotype: protein_coding
description:
  DNA methyltransferase 3 alpha; Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.


ensembl_gene_id: ENSUAMP00000013366
symbol: TOP3A
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: ENSUAMP00000013380
symbol: ADORA2A
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: ENSUAMP00000013386
symbol: TRPC1
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily C member 1; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSUAMP00000013390
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: ENSUAMP00000013446
symbol: DERL3
gene_biotype: protein_coding
description:
  Derlin; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome; Belongs to the derlin family.


ensembl_gene_id: ENSUAMP00000013452
symbol: SMARCB1
gene_biotype: protein_coding
description:
  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1; Belongs to the SNF5 family.


ensembl_gene_id: ENSUAMP00000013489
symbol: TRMT2A
gene_biotype: protein_coding
description:
  tRNA methyltransferase 2 homolog A; Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA M5U methyltransferase family.


ensembl_gene_id: ENSUAMP00000013501
symbol: SDR9C7
gene_biotype: protein_coding
description:
  Short chain dehydrogenase/reductase family 9C member 7; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSUAMP00000013518
symbol: ETNPPL
gene_biotype: protein_coding
description:
  Ethanolamine-phosphate phospho-lyase; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSUAMP00000013522
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: ENSUAMP00000013598
symbol: ARPC3
gene_biotype: protein_coding
description:
  Actin-related protein 2/3 complex subunit 3; Functions as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks.


ensembl_gene_id: ENSUAMP00000013601
symbol: GPN3
gene_biotype: protein_coding
description:
  GPN-loop GTPase 3; Small GTPase required for proper nuclear import of RNA polymerase II and III (RNAPII and RNAPIII). May act at an RNAP assembly step prior to nuclear import; Belongs to the GPN-loop GTPase family.


ensembl_gene_id: ENSUAMP00000013610
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: ENSUAMP00000013733
symbol: ADSS2
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: ENSUAMP00000013871
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: ENSUAMP00000013905
symbol: EMP3
gene_biotype: protein_coding
description:
  Epithelial membrane protein 3; Probably involved in cell proliferation and cell-cell interactions; Belongs to the PMP-22/EMP/MP20 family.


ensembl_gene_id: ENSUAMP00000013976
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: ENSUAMP00000013998
symbol: ENSUAMP00000013998
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: ENSUAMP00000014103
symbol: YWHAG
gene_biotype: protein_coding
description:
  Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma; Belongs to the 14-3-3 family.


ensembl_gene_id: ENSUAMP00000014104
symbol: HSPB1
gene_biotype: protein_coding
description:
  Heat shock protein family B (small) member 1; Belongs to the small heat shock protein (HSP20) family.


ensembl_gene_id: ENSUAMP00000014124
symbol: ARPC4
gene_biotype: protein_coding
description:
  Actin-related protein 2/3 complex subunit 4; 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. Seems to contact the mother actin filament; Belongs to the ARPC4 family.


ensembl_gene_id: ENSUAMP00000014131
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: ENSUAMP00000014141
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: ENSUAMP00000014164
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: ENSUAMP00000014169
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: ENSUAMP00000014193
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: ENSUAMP00000014254
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: ENSUAMP00000014328
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: ENSUAMP00000014330
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: ENSUAMP00000014418
symbol: SRD5A2
gene_biotype: protein_coding
description:
  3-oxo-5-alpha-steroid 4-dehydrogenase; Converts testosterone into 5-alpha-dihydrotestosterone and progesterone or corticosterone into their corresponding 5-alpha-3- oxosteroids. It plays a central role in sexual differentiation and androgen physiology.


ensembl_gene_id: ENSUAMP00000014442
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: ENSUAMP00000014569
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: ENSUAMP00000014574
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: ENSUAMP00000014587
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: ENSUAMP00000014606
symbol: KIF17
gene_biotype: protein_coding
description:
  Kinesin family member 17; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000014648
symbol: ENSUAMP00000014648
gene_biotype: protein_coding
description:
  Adenosine receptor A3; 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: ENSUAMP00000014682
symbol: B3GAT1
gene_biotype: protein_coding
description:
  Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase; Belongs to the glycosyltransferase 43 family.


ensembl_gene_id: ENSUAMP00000014751
symbol: PYGM
gene_biotype: protein_coding
description:
  Alpha-1,4 glucan phosphorylase; Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.


ensembl_gene_id: ENSUAMP00000014766
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: ENSUAMP00000014767
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: ENSUAMP00000014798
symbol: ENSUAMP00000014798
gene_biotype: protein_coding
description:
  S-(hydroxymethyl)glutathione dehydrogenase; Belongs to the zinc-containing alcohol dehydrogenase family. Class-III subfamily.


ensembl_gene_id: ENSUAMP00000014939
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: ENSUAMP00000015001
symbol: PRMT6
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase 6; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSUAMP00000015006
symbol: MAP4K2
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase kinase 2; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.


ensembl_gene_id: ENSUAMP00000015023
symbol: CDC42BPG
gene_biotype: protein_coding
description:
  CDC42 binding protein kinase gamma; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.


ensembl_gene_id: ENSUAMP00000015024
symbol: TP73
gene_biotype: protein_coding
description:
  Tumor protein p73; Participates in the apoptotic response to DNA damage. Isoforms containing the transactivation domain are pro-apoptotic, isoforms lacking the domain are anti-apoptotic and block the function of p53 and transactivating p73 isoforms. May be a tumor suppressor protein.


ensembl_gene_id: ENSUAMP00000015030
symbol: EHD1
gene_biotype: protein_coding
description:
  EH domain containing 1; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSUAMP00000015041
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: ENSUAMP00000015056
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: ENSUAMP00000015169
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: ENSUAMP00000015211
symbol: COPB2
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: ENSUAMP00000015263
symbol: PPP2R5B
gene_biotype: protein_coding
description:
  Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.


ensembl_gene_id: ENSUAMP00000015332
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: ENSUAMP00000015480
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: ENSUAMP00000015596
symbol: BDH1
gene_biotype: protein_coding
description:
  3-hydroxybutyrate dehydrogenase 1; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSUAMP00000015611
symbol: GABRA5
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor alpha5 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000015616
symbol: PRMT2
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase 2; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSUAMP00000015646
symbol: GRHPR
gene_biotype: protein_coding
description:
  Glyoxylate and hydroxypyruvate reductase; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.


ensembl_gene_id: ENSUAMP00000015656
symbol: ENSUAMP00000015656
gene_biotype: protein_coding
description:
  Voltage-dependent calcium channel gamma-8 subunit; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.


ensembl_gene_id: ENSUAMP00000015713
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: ENSUAMP00000015727
symbol: EIF2B1
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 2B subunit alpha; Belongs to the eIF-2B alpha/beta/delta subunits family.


ensembl_gene_id: ENSUAMP00000015778
symbol: GABRG2
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor gamma2 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000015794
symbol: TUBB2B
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: ENSUAMP00000015927
symbol: RHBDL1
gene_biotype: protein_coding
description:
  Rhomboid-related protein 1; May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors; Belongs to the peptidase S54 family.


ensembl_gene_id: ENSUAMP00000015958
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: ENSUAMP00000016027
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: ENSUAMP00000016071
symbol: TRPV6
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily V member 6; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSUAMP00000016101
symbol: TRPV5
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily V member 5; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSUAMP00000016137
symbol: MAT1A
gene_biotype: protein_coding
description:
  S-adenosylmethionine synthase; Catalyzes the formation of S-adenosylmethionine from methionine and ATP.


ensembl_gene_id: ENSUAMP00000016152
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: ENSUAMP00000016164
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: ENSUAMP00000016181
symbol: NAPRT
gene_biotype: protein_coding
description:
  Nicotinate phosphoribosyltransferase; Catalyzes the first step in the biosynthesis of NAD from nicotinic acid, the ATP-dependent synthesis of beta-nicotinate D- ribonucleotide from nicotinate and 5-phospho-D-ribose 1-phosphate. Belongs to the NAPRTase family.


ensembl_gene_id: ENSUAMP00000016216
symbol: GABRE
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor epsilon subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000016257
symbol: ATP1A2
gene_biotype: protein_coding
description:
  ATPase Na+/K+ transporting subunit alpha 2; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family.


ensembl_gene_id: ENSUAMP00000016311
symbol: ENSUAMP00000016311
gene_biotype: protein_coding
description:
  Cytochrome c domain-containing protein; 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: ENSUAMP00000016370
symbol: HSPB3
gene_biotype: protein_coding
description:
  Heat shock protein family B (small) member 3; Belongs to the small heat shock protein (HSP20) family.


ensembl_gene_id: ENSUAMP00000016415
symbol: ENSUAMP00000016415
gene_biotype: protein_coding
description:
  N-acetylglucosamine-6-phosphate deacetylase; Hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6- phosphate (GlcNGc-6-P) in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway.


ensembl_gene_id: ENSUAMP00000016416
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: ENSUAMP00000016463
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: ENSUAMP00000016487
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: ENSUAMP00000016501
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: ENSUAMP00000016513
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: ENSUAMP00000016644
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: ENSUAMP00000016689
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: ENSUAMP00000016701
symbol: TSR3
gene_biotype: protein_coding
description:
  Probable ribosome biogenesis protein C16orf42 homolog; Probable pre-rRNA processing protein involved in ribosome biogenesis.


ensembl_gene_id: ENSUAMP00000016730
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: ENSUAMP00000016783
symbol: PTPN4
gene_biotype: protein_coding
description:
  Tyrosine-protein phosphatase non-receptor type; May act at junctions between the membrane and the cytoskeleton.


ensembl_gene_id: ENSUAMP00000016815
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: ENSUAMP00000016856
symbol: ST6GALNAC2
gene_biotype: protein_coding
description:
  ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSUAMP00000016863
symbol: ST6GALNAC1
gene_biotype: protein_coding
description:
  ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSUAMP00000016865
symbol: TGFBR1
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: ENSUAMP00000016881
symbol: NAXE
gene_biotype: protein_coding
description:
  NAD(P)H-hydrate epimerase; Catalyzes the epimerization of the S- and R-forms of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. This is a prerequisite for the S-specific NAD(P)H-hydrate dehydratase to allow the repair of both epimers of NAD(P)HX.


ensembl_gene_id: ENSUAMP00000016891
symbol: CRABP2
gene_biotype: protein_coding
description:
  Cellular retinoic acid binding protein 2; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSUAMP00000016923
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: ENSUAMP00000016936
symbol: PANX2
gene_biotype: protein_coding
description:
  Pannexin; Structural component of the gap junctions and the hemichannels; Belongs to the pannexin family.


ensembl_gene_id: ENSUAMP00000016973
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: ENSUAMP00000017038
symbol: EIF2B2
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 2B subunit beta; Belongs to the eIF-2B alpha/beta/delta subunits family.


ensembl_gene_id: ENSUAMP00000017144
symbol: MACROH2A1
gene_biotype: protein_coding
description:
  Core histone macro-H2A; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes.


ensembl_gene_id: ENSUAMP00000017150
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: ENSUAMP00000017282
symbol: RHBG
gene_biotype: protein_coding
description:
  Rh family B glycoprotein (gene/pseudogene); Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.


ensembl_gene_id: ENSUAMP00000017314
symbol: SEPTIN9
gene_biotype: protein_coding
description:
  Septin 9; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSUAMP00000017325
symbol: HSPB8
gene_biotype: protein_coding
description:
  Heat shock protein family B (small) member 8; Belongs to the small heat shock protein (HSP20) family.


ensembl_gene_id: ENSUAMP00000017450
symbol: POLR3K
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: ENSUAMP00000017480
symbol: ENSUAMP00000017480
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: ENSUAMP00000017503
symbol: SEPTIN10
gene_biotype: protein_coding
description:
  Septin 10; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSUAMP00000017553
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: ENSUAMP00000017569
symbol: KIF26B
gene_biotype: protein_coding
description:
  Kinesin family member 26B; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000017610
symbol: KCNK6
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 6; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSUAMP00000017623
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: ENSUAMP00000017627
symbol: TGFB1I1
gene_biotype: protein_coding
description:
  Transforming growth factor beta-1-induced transcript 1 protein; Functions as a molecular adapter coordinating multiple protein-protein interactions at the focal adhesion complex and in the nucleus. Links various intracellular signaling modules to plasma membrane receptors and regulates the Wnt and TGFB signaling pathways.


ensembl_gene_id: ENSUAMP00000017672
symbol: TAX1BP3
gene_biotype: protein_coding
description:
  Tax1-binding protein 3; May regulate a number of protein-protein interactions by competing for PDZ domain binding sites.


ensembl_gene_id: ENSUAMP00000017717
symbol: KCNK12
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 12; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSUAMP00000017740
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: ENSUAMP00000017772
symbol: FA2H
gene_biotype: protein_coding
description:
  Fatty acid 2-hydroxylase; Catalyzes stereospecific hydroxylation of free fatty acids at the C-2 position to produce (R)-2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis. Plays an essential role in the synthesis of galactosphingolipids of the myelin sheath. Responsible for the synthesis of sphingolipids and glycosphingolipids involved in the formation of epidermal lamellar bodies critical for skin permeability barrier. Participates in the synthesis of glycosphingolipids and a fraction of type II wax diesters i [...]


ensembl_gene_id: ENSUAMP00000017795
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: ENSUAMP00000017797
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: ENSUAMP00000017831
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: ENSUAMP00000017849
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: ENSUAMP00000017853
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: ENSUAMP00000017959
symbol: TEAD3
gene_biotype: protein_coding
description:
  Transcriptional enhancer factor TEF-5; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis.


ensembl_gene_id: ENSUAMP00000017970
symbol: HDAC1
gene_biotype: protein_coding
description:
  Histone deacetylase 1; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.


ensembl_gene_id: ENSUAMP00000017981
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: ENSUAMP00000018092
symbol: DNM1L
gene_biotype: protein_coding
description:
  Dynamin 1 like; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSUAMP00000018115
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: ENSUAMP00000018127
symbol: PARP1
gene_biotype: protein_coding
description:
  Poly [ADP-ribose] polymerase; Poly-ADP-ribosyltransferase that mediates poly-ADP- ribosylation of proteins and plays a key role in DNA repair.


ensembl_gene_id: ENSUAMP00000018245
symbol: MBOAT2
gene_biotype: protein_coding
description:
  Membrane bound O-acyltransferase domain containing 2; Belongs to the membrane-bound acyltransferase family.


ensembl_gene_id: ENSUAMP00000018266
symbol: VPS11
gene_biotype: protein_coding
description:
  Vacuolar protein sorting-associated protein 11 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes. Belongs to the VPS11 family.


ensembl_gene_id: ENSUAMP00000018333
symbol: HSD3B7
gene_biotype: protein_coding
description:
  Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7; Belongs to the 3-beta-HSD family.


ensembl_gene_id: ENSUAMP00000018364
symbol: SMG1
gene_biotype: protein_coding
description:
  SMG1 nonsense mediated mRNA decay associated PI3K related kinase; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSUAMP00000018413
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: ENSUAMP00000018426
symbol: ENSUAMP00000018426
gene_biotype: protein_coding
description:
  Tubulin_C domain-containing protein; 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: ENSUAMP00000018453
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: ENSUAMP00000018508
symbol: GAMT
gene_biotype: protein_coding
description:
  Guanidinoacetate N-methyltransferase; Converts guanidinoacetate to creatine, using S- adenosylmethionine as the methyl donor. Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family.


ensembl_gene_id: ENSUAMP00000018565
symbol: TICAM1
gene_biotype: protein_coding
description:
  TIR domain-containing adapter molecule 1; Involved in innate immunity against invading pathogens. Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines.


ensembl_gene_id: ENSUAMP00000018586
symbol: SLC2A4
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 4; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSUAMP00000018672
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: ENSUAMP00000018790
symbol: PELI3
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: ENSUAMP00000018841
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: ENSUAMP00000018877
symbol: KIT
gene_biotype: protein_coding
description:
  KIT proto-oncogene, receptor tyrosine kinase; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSUAMP00000018884
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: ENSUAMP00000018885
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: ENSUAMP00000018898
symbol: ENSUAMP00000018898
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: ENSUAMP00000018902
symbol: TRAPPC3L
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: ENSUAMP00000018924
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: ENSUAMP00000018962
symbol: HSPB7
gene_biotype: protein_coding
description:
  Heat shock protein family B (small) member 7; Belongs to the small heat shock protein (HSP20) family.


ensembl_gene_id: ENSUAMP00000019029
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: ENSUAMP00000019116
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: ENSUAMP00000019160
symbol: FUT11
gene_biotype: protein_coding
description:
  Alpha-(1,3)-fucosyltransferase; Probable fucosyltransferase; Belongs to the glycosyltransferase 10 family.


ensembl_gene_id: ENSUAMP00000019187
symbol: DYNLRB2
gene_biotype: protein_coding
description:
  Dynein light chain roadblock; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules.


ensembl_gene_id: ENSUAMP00000019193
symbol: AP3M1
gene_biotype: protein_coding
description:
  AP-3 complex subunit mu-1; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes; Belongs to the adaptor complexes medium subunit family.


ensembl_gene_id: ENSUAMP00000019204
symbol: PRDX5
gene_biotype: protein_coding
description:
  Peroxiredoxin; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides; Belongs to the peroxiredoxin family. Prx5 subfamily.


ensembl_gene_id: ENSUAMP00000019218
symbol: KCNK4
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 4; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSUAMP00000019257
symbol: AK2
gene_biotype: protein_coding
description:
  Adenylate kinase 2, mitochondrial; Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis.


ensembl_gene_id: ENSUAMP00000019323
symbol: GABRB2
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor beta2 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000019472
symbol: MRI1
gene_biotype: protein_coding
description:
  Methylthioribose-1-phosphate isomerase; Catalyzes the interconversion of methylthioribose-1-phosphate (MTR-1-P) into methylthioribulose-1-phosphate (MTRu-1-P). Belongs to the eIF-2B alpha/beta/delta subunits family. MtnA subfamily.


ensembl_gene_id: ENSUAMP00000019480
symbol: TUBB2A
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: ENSUAMP00000019606
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: ENSUAMP00000019614
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: ENSUAMP00000019628
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: ENSUAMP00000019632
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: ENSUAMP00000019652
symbol: MYH11
gene_biotype: protein_coding
description:
  Myosin heavy chain 11; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSUAMP00000019668
symbol: MC1R
gene_biotype: protein_coding
description:
  Melanocyte-stimulating hormone receptor; Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSUAMP00000019685
symbol: ENSUAMP00000019685
gene_biotype: protein_coding
description:
  5-hydroxyisourate hydrolase; Belongs to the transthyretin family. 5-hydroxyisourate hydrolase subfamily.


ensembl_gene_id: ENSUAMP00000019837
symbol: SSR2
gene_biotype: protein_coding
description:
  Translocon-associated protein subunit beta; TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.


ensembl_gene_id: ENSUAMP00000019939
symbol: SBK1
gene_biotype: protein_coding
description:
  Serine/threonine-protein kinase SBK1; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.


ensembl_gene_id: ENSUAMP00000019973
symbol: MAS1
gene_biotype: protein_coding
description:
  MAS1 proto-oncogene, G protein-coupled receptor; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSUAMP00000020044
symbol: PTK7
gene_biotype: protein_coding
description:
  Protein tyrosine kinase 7 (inactive); Belongs to the protein kinase superfamily. Tyr protein kinase family.


ensembl_gene_id: ENSUAMP00000020260
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: ENSUAMP00000020283
symbol: TRPA1
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily A member 1; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSUAMP00000020333
symbol: ENSUAMP00000020333
gene_biotype: protein_coding
description:
  Uncharacterized protein; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSUAMP00000020396
symbol: TRPV2
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily V member 2; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSUAMP00000020461
symbol: ENSUAMP00000020461
gene_biotype: protein_coding
description:
  SAM_MT_RSMB_NOP domain-containing protein; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSUAMP00000020503
symbol: LIN7B
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: ENSUAMP00000020568
symbol: ENSUAMP00000020568
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: ENSUAMP00000020591
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: ENSUAMP00000020597
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: ENSUAMP00000020630
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: ENSUAMP00000020647
symbol: TFIP11
gene_biotype: protein_coding
description:
  Tuftelin-interacting protein 11; Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. Intron turnover seems to proceed through reactions in two lariat-intron associated complexes termed Intron Large (IL) and Intron Small (IS). In cooperation with DHX15 seems to mediate the transition of the U2, U5 and U6 snRNP- containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extrac [...]


ensembl_gene_id: ENSUAMP00000020653
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: ENSUAMP00000020787
symbol: GABRR2
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor rho2 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000020790
symbol: GABRR1
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor rho1 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000020838
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: ENSUAMP00000020847
symbol: ST6GALNAC4
gene_biotype: protein_coding
description:
  ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSUAMP00000020858
symbol: KCNV2
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily V member 2; Belongs to the potassium channel family.


ensembl_gene_id: ENSUAMP00000020867
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: ENSUAMP00000021061
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: ENSUAMP00000021083
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: ENSUAMP00000021085
symbol: NSUN5
gene_biotype: protein_coding
description:
  NOP2/Sun RNA methyltransferase 5; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSUAMP00000021228
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: ENSUAMP00000021322
symbol: RUNX1
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: ENSUAMP00000021336
symbol: SCNN1G
gene_biotype: protein_coding
description:
  Sodium channel epithelial 1 gamma subunit; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSUAMP00000021364
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: ENSUAMP00000021431
symbol: USB1
gene_biotype: protein_coding
description:
  U6 snRNA phosphodiesterase; Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate; Belongs to the 2H phosphoesterase superfamily. USB1 family.


ensembl_gene_id: ENSUAMP00000021434
symbol: ENSUAMP00000021434
gene_biotype: protein_coding
description:
  Stonin-2; Adapter protein involved in endocytic machinery. Involved in the synaptic vesicle recycling. May facilitate clathrin-coated vesicle uncoating; Belongs to the Stoned B family.


ensembl_gene_id: ENSUAMP00000021444
symbol: PPIP5K1
gene_biotype: protein_coding
description:
  Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase; Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates  [...]


ensembl_gene_id: ENSUAMP00000021473
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: ENSUAMP00000021500
symbol: SCNN1B
gene_biotype: protein_coding
description:
  Sodium channel epithelial 1 beta subunit; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSUAMP00000021580
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: ENSUAMP00000021583
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: ENSUAMP00000021629
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: ENSUAMP00000021669
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: ENSUAMP00000021690
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: ENSUAMP00000021738
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: ENSUAMP00000021739
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: ENSUAMP00000021754
symbol: RBP7
gene_biotype: protein_coding
description:
  Retinol binding protein 7; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSUAMP00000021778
symbol: COPZ2
gene_biotype: protein_coding
description:
  Coatomer subunit zeta; The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-dissociation properties with the coatomer complex.


ensembl_gene_id: ENSUAMP00000021793
symbol: CHRM1
gene_biotype: protein_coding
description:
  Muscarinic acetylcholine receptor; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins.


ensembl_gene_id: ENSUAMP00000021822
symbol: TAAR2
gene_biotype: protein_coding
description:
  Trace amine associated receptor 2 (gene/pseudogene); Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSUAMP00000021825
symbol: MYF5
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: ENSUAMP00000021827
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: ENSUAMP00000021895
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: ENSUAMP00000021919
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: ENSUAMP00000021936
symbol: AP1M1
gene_biotype: protein_coding
description:
  AP-1 complex subunit mu-1; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.


ensembl_gene_id: ENSUAMP00000021964
symbol: SEPTIN11
gene_biotype: protein_coding
description:
  Septin 11; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSUAMP00000022105
symbol: PRMT3
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase 3; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSUAMP00000022116
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: ENSUAMP00000022120
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: ENSUAMP00000022123
symbol: PRMT9
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase 9; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSUAMP00000022211
symbol: LEP
gene_biotype: protein_coding
description:
  Leptin; Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways. In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo- pituitary-adrenal hormones. In the periphery, increases basal me [...]


ensembl_gene_id: ENSUAMP00000022216
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: ENSUAMP00000022228
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: ENSUAMP00000022232
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: ENSUAMP00000022281
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: ENSUAMP00000022388
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: ENSUAMP00000022402
symbol: CAMLG
gene_biotype: protein_coding
description:
  Calcium signal-modulating cyclophilin ligand; Likely involved in the mobilization of calcium as a result of the TCR/CD3 complex interaction. Binds to cyclophilin B.


ensembl_gene_id: ENSUAMP00000022421
symbol: KIF21A
gene_biotype: protein_coding
description:
  Kinesin family member 21A; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000022512
symbol: KCNK15
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 15; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSUAMP00000022515
symbol: YWHAB
gene_biotype: protein_coding
description:
  Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta; Belongs to the 14-3-3 family.


ensembl_gene_id: ENSUAMP00000022526
symbol: KCNS1
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily S member 1; Belongs to the potassium channel family.


ensembl_gene_id: ENSUAMP00000022546
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: ENSUAMP00000022645
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: ENSUAMP00000022681
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: ENSUAMP00000022702
symbol: PGLYRP1
gene_biotype: protein_coding
description:
  Peptidoglycan-recognition protein; Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Involved in innate immunity.


ensembl_gene_id: ENSUAMP00000022813
symbol: CRABP1
gene_biotype: protein_coding
description:
  Cellular retinoic acid binding protein 1; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSUAMP00000022818
symbol: ENSUAMP00000022818
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: ENSUAMP00000022833
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: ENSUAMP00000022894
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: ENSUAMP00000023018
symbol: EIF3F
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 3 subunit F; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...]


ensembl_gene_id: ENSUAMP00000023050
symbol: GABRD
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor delta subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000023088
symbol: ENSUAMP00000023088
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: ENSUAMP00000023120
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: ENSUAMP00000023136
symbol: KDR
gene_biotype: protein_coding
description:
  Kinase insert domain receptor; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSUAMP00000023186
symbol: RIPK2
gene_biotype: protein_coding
description:
  Receptor-interacting serine/threonine-protein kinase 2; Serine/threonine/tyrosine kinase that plays an essential role in modulation of innate and adaptive immune responses. Upon stimulation by bacterial peptidoglycans, NOD1 and NOD2 are activated, oligomerize and recruit RIPK2 through CARD-CARD domains.


ensembl_gene_id: ENSUAMP00000023189
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: ENSUAMP00000023201
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: ENSUAMP00000023236
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: ENSUAMP00000023275
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: ENSUAMP00000023284
symbol: FABP3
gene_biotype: protein_coding
description:
  Fatty acid binding protein 3; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSUAMP00000023378
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: ENSUAMP00000023450
symbol: KCNK2
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 2; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSUAMP00000023488
symbol: ENSUAMP00000023488
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: ENSUAMP00000023492
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: ENSUAMP00000023532
symbol: DUSP27
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 27, atypical; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSUAMP00000023561
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: ENSUAMP00000023585
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: ENSUAMP00000023598
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: ENSUAMP00000023644
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: ENSUAMP00000023655
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: ENSUAMP00000023665
symbol: DSC3
gene_biotype: protein_coding
description:
  Desmocollin 3; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSUAMP00000023716
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: ENSUAMP00000023721
symbol: ENSUAMP00000023721
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: ENSUAMP00000023739
symbol: CRYAB
gene_biotype: protein_coding
description:
  Crystallin alpha B; May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions.


ensembl_gene_id: ENSUAMP00000023783
symbol: AP1M2
gene_biotype: protein_coding
description:
  AP-1 complex subunit mu-2; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.


ensembl_gene_id: ENSUAMP00000023861
symbol: DSC2
gene_biotype: protein_coding
description:
  Desmocollin 2; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSUAMP00000023862
symbol: MYH14
gene_biotype: protein_coding
description:
  Myosin heavy chain 14; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSUAMP00000023865
symbol: SLC2A6
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 6; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSUAMP00000023882
symbol: DSC1
gene_biotype: protein_coding
description:
  Desmocollin 1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


ensembl_gene_id: ENSUAMP00000023907
symbol: PSAP
gene_biotype: protein_coding
description:
  Prosaposin; Prosaposin: Behaves as a myelinotrophic and neurotrophic factor, these effects are mediated by its G-protein-coupled receptors, GPR37 and GPR37L1, undergoing ligand-mediated internalization followed by ERK phosphorylation signaling.


ensembl_gene_id: ENSUAMP00000024101
symbol: B4GALNT3
gene_biotype: protein_coding
description:
  Beta-1,4-N-acetylgalactosaminyltransferase; Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'- diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans.


ensembl_gene_id: ENSUAMP00000024119
symbol: YWHAH
gene_biotype: protein_coding
description:
  Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta; Belongs to the 14-3-3 family.


ensembl_gene_id: ENSUAMP00000024174
symbol: ATP6V1B1
gene_biotype: protein_coding
description:
  Vacuolar proton pump subunit B; Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase; Belongs to the ATPase alpha/beta chains family.


ensembl_gene_id: ENSUAMP00000024231
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: ENSUAMP00000024258
symbol: KIF1A
gene_biotype: protein_coding
description:
  Kinesin family member 1A; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000024262
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: ENSUAMP00000024284
symbol: RHBDL2
gene_biotype: protein_coding
description:
  Rhomboid-related protein 2; Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors; Belongs to the peptidase S54 family.


ensembl_gene_id: ENSUAMP00000024464
symbol: ALDH1L1
gene_biotype: protein_coding
description:
  10-formyltetrahydrofolate dehydrogenase; In the C-terminal section; belongs to the aldehyde dehydrogenase family. ALDH1L subfamily.


ensembl_gene_id: ENSUAMP00000024465
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: ENSUAMP00000024694
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: ENSUAMP00000024697
symbol: ENSUAMP00000024697
gene_biotype: protein_coding
description:
  G_PROTEIN_RECEP_F1_2 domain-containing protein; Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.


ensembl_gene_id: ENSUAMP00000024762
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: ENSUAMP00000024795
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: ENSUAMP00000024836
symbol: SLC2A12
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 12; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSUAMP00000024879
symbol: KIF4A
gene_biotype: protein_coding
description:
  Kinesin family member 4A; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000024949
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: ENSUAMP00000024968
symbol: KCNF1
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily F member 1; Belongs to the potassium channel family.


ensembl_gene_id: ENSUAMP00000025038
symbol: SULF2
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: ENSUAMP00000025146
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: ENSUAMP00000025147
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: ENSUAMP00000025148
symbol: SLC24A1
gene_biotype: protein_coding
description:
  Solute carrier family 24 member 1; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSUAMP00000025166
symbol: GET3
gene_biotype: protein_coding
description:
  ATPase ASNA1; ATPase required for the post-translational delivery of tail- anchored (TA) proteins to the endoplasmic reticulum. Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors, where the tail-anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydrolysis is required for insertion.  [...]


ensembl_gene_id: ENSUAMP00000025167
symbol: POLRMT
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Belongs to the phage and mitochondrial RNA polymerase family.


ensembl_gene_id: ENSUAMP00000025204
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: ENSUAMP00000025284
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: ENSUAMP00000025327
symbol: ENSUAMP00000025327
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: ENSUAMP00000025352
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: ENSUAMP00000025419
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: ENSUAMP00000025431
symbol: TNFRSF11B
gene_biotype: protein_coding
description:
  Tumor necrosis factor receptor superfamily member 11B; Acts as decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis.


ensembl_gene_id: ENSUAMP00000025455
symbol: LRP5
gene_biotype: protein_coding
description:
  Low-density lipoprotein receptor-related protein; Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Belongs to the LDLR family.


ensembl_gene_id: ENSUAMP00000025553
symbol: U2AF2
gene_biotype: protein_coding
description:
  U2 snRNP auxiliary factor large subunit; Necessary for the splicing of pre-mRNA. Belongs to the splicing factor SR family.


ensembl_gene_id: ENSUAMP00000025625
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: ENSUAMP00000025710
symbol: FBLN1
gene_biotype: protein_coding
description:
  Fibulin-1; Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supramolecular organization of ECM architecture, in particular to those of basement membranes.


ensembl_gene_id: ENSUAMP00000025747
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: ENSUAMP00000025777
symbol: CTU2
gene_biotype: protein_coding
description:
  Cytoplasmic tRNA 2-thiolation protein 2; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with CTU1/ATPBD3 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position. Belongs to the CTU2/NCS2 family.


ensembl_gene_id: ENSUAMP00000025781
symbol: MVD
gene_biotype: protein_coding
description:
  Diphosphomevalonate decarboxylase; Performs the first committed step in the biosynthesis of isoprenes.


ensembl_gene_id: ENSUAMP00000025891
symbol: SLC24A5
gene_biotype: protein_coding
description:
  Solute carrier family 24 member 5; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSUAMP00000025992
symbol: SLC8A2
gene_biotype: protein_coding
description:
  Solute carrier family 8 member A2; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSUAMP00000026093
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: ENSUAMP00000026134
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: ENSUAMP00000026139
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: ENSUAMP00000026171
symbol: PMM2
gene_biotype: protein_coding
description:
  Phosphomannomutase; Involved in the synthesis of the GDP-mannose and dolichol- phosphate-mannose required for a number of critical mannosyl transfer reactions.


ensembl_gene_id: ENSUAMP00000026174
symbol: ABAT
gene_biotype: protein_coding
description:
  4-aminobutyrate aminotransferase; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSUAMP00000026175
symbol: KIF20B
gene_biotype: protein_coding
description:
  Kinesin family member 20B; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000026353
symbol: ENSUAMP00000026353
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: ENSUAMP00000026387
symbol: FES
gene_biotype: protein_coding
description:
  Tyrosine-protein kinase; Belongs to the protein kinase superfamily. Tyr protein kinase family. Fes/fps subfamily.


ensembl_gene_id: ENSUAMP00000026423
symbol: KIF11
gene_biotype: protein_coding
description:
  Kinesin family member 11; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000026452
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: ENSUAMP00000026466
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: ENSUAMP00000026550
symbol: DIS3L2
gene_biotype: protein_coding
description:
  DIS3-like exonuclease 2; 3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mi [...]


ensembl_gene_id: ENSUAMP00000026747
symbol: HSPB6
gene_biotype: protein_coding
description:
  Heat shock protein family B (small) member 6; Belongs to the small heat shock protein (HSP20) family.


ensembl_gene_id: ENSUAMP00000026781
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: ENSUAMP00000026832
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: ENSUAMP00000026917
symbol: IARS2
gene_biotype: protein_coding
description:
  Isoleucyl-tRNA synthetase 2, mitochondrial; Belongs to the class-I aminoacyl-tRNA synthetase family.


ensembl_gene_id: ENSUAMP00000026984
symbol: TNP2
gene_biotype: protein_coding
description:
  Nuclear transition protein 2; Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction.


ensembl_gene_id: ENSUAMP00000026996
symbol: INS
gene_biotype: protein_coding
description:
  Insulin; Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver.


ensembl_gene_id: ENSUAMP00000027118
symbol: TRMT1L
gene_biotype: protein_coding
description:
  tRNA methyltransferase 1 like; Belongs to the class I-like SAM-binding methyltransferase superfamily. Trm1 family.


ensembl_gene_id: ENSUAMP00000027272
symbol: KCNG1
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily G member 1; Belongs to the potassium channel family.


ensembl_gene_id: ENSUAMP00000027273
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: ENSUAMP00000027274
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: ENSUAMP00000027387
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: ENSUAMP00000027405
symbol: DUSP19
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 19; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSUAMP00000027521
symbol: ATP6V1F
gene_biotype: protein_coding
description:
  V-type proton ATPase subunit F; Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.


ensembl_gene_id: ENSUAMP00000027536
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: ENSUAMP00000027565
symbol: FADD
gene_biotype: protein_coding
description:
  FAS-associated death domain protein; Apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated Fas (CD95) or TNFR-1 receptors. The resulting aggregate called the death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation. Active caspase-8 initiates the subsequent cascade of caspases mediating apoptosis. Involved in interferon-mediated antiviral immune response, playing a role in the positive regulation of interferon signaling.


ensembl_gene_id: ENSUAMP00000027588
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: ENSUAMP00000027727
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: ENSUAMP00000027734
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: ENSUAMP00000027821
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: ENSUAMP00000027875
symbol: PTH
gene_biotype: protein_coding
description:
  Parathyroid hormone; PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion; Belongs to the parathyroid hormone family.


ensembl_gene_id: ENSUAMP00000027907
symbol: PRMT8
gene_biotype: protein_coding
description:
  Protein arginine methyltransferase 8; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family.


ensembl_gene_id: ENSUAMP00000027928
symbol: PAMR1
gene_biotype: protein_coding
description:
  Peptidase domain containing associated with muscle regeneration 1; Belongs to the peptidase S1 family.


ensembl_gene_id: ENSUAMP00000027966
symbol: SLC2A10
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 10; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSUAMP00000027990
symbol: GABRA4
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor alpha4 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000028025
symbol: ADCY1
gene_biotype: protein_coding
description:
  Adenylate cyclase type 1; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSUAMP00000028040
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: ENSUAMP00000028116
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: ENSUAMP00000028138
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: ENSUAMP00000028148
symbol: ASIC5
gene_biotype: protein_coding
description:
  Acid sensing ion channel subunit family member 5; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSUAMP00000028150
symbol: GUCY1B1
gene_biotype: protein_coding
description:
  Guanylate cyclase 1 soluble subunit beta 1; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.


ensembl_gene_id: ENSUAMP00000028218
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: ENSUAMP00000028331
symbol: POLR3C
gene_biotype: protein_coding
description:
  RNA polymerase III subunit C3; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.


ensembl_gene_id: ENSUAMP00000028341
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: ENSUAMP00000028358
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: ENSUAMP00000028362
symbol: POLR3GL
gene_biotype: protein_coding
description:
  DNA-directed RNA polymerase III subunit; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs.


ensembl_gene_id: ENSUAMP00000028446
symbol: IHH
gene_biotype: protein_coding
description:
  Hedgehog protein; Intercellular signal essential for a variety of patterning events during development.


ensembl_gene_id: ENSUAMP00000028490
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: ENSUAMP00000028544
symbol: RPLP2
gene_biotype: protein_coding
description:
  Ribosomal protein lateral stalk subunit P2; Belongs to the eukaryotic ribosomal protein P1/P2 family.


ensembl_gene_id: ENSUAMP00000028562
symbol: RER1
gene_biotype: protein_coding
description:
  Protein RER1; Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment.


ensembl_gene_id: ENSUAMP00000028617
symbol: SLC2A13
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 13; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSUAMP00000028649
symbol: SEC23A
gene_biotype: protein_coding
description:
  Protein transport protein SEC23; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules; Belongs to the SEC23/SEC24 family. SEC23 subfamily.


ensembl_gene_id: ENSUAMP00000028650
symbol: EIF4E1B
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 4E family member 1B; Belongs to the eukaryotic initiation factor 4E family.


ensembl_gene_id: ENSUAMP00000028678
symbol: TALDO1
gene_biotype: protein_coding
description:
  Transaldolase; Transaldolase is important for the balance of metabolites in the pentose-phosphate pathway.


ensembl_gene_id: ENSUAMP00000028798
symbol: ENSUAMP00000028798
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: ENSUAMP00000028820
symbol: EHD3
gene_biotype: protein_coding
description:
  EH domain containing 3; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSUAMP00000028885
symbol: TIMM44
gene_biotype: protein_coding
description:
  Mitochondrial import inner membrane translocase subunit TIM44; Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner; Belongs to the Tim44 family.


ensembl_gene_id: ENSUAMP00000029017
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: ENSUAMP00000029149
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: ENSUAMP00000029174
symbol: AGXT2
gene_biotype: protein_coding
description:
  Alanine--glyoxylate aminotransferase 2; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.


ensembl_gene_id: ENSUAMP00000029225
symbol: ENSUAMP00000029225
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: ENSUAMP00000029283
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: ENSUAMP00000029301
symbol: TRNT1
gene_biotype: protein_coding
description:
  tRNA nucleotidyl transferase 1; Belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family.


ensembl_gene_id: ENSUAMP00000029343
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: ENSUAMP00000029421
symbol: SETD7
gene_biotype: protein_coding
description:
  Histone-lysine N-methyltransferase SETD7; Histone methyltransferase that specifically monomethylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes.


ensembl_gene_id: ENSUAMP00000029447
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: ENSUAMP00000029495
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: ENSUAMP00000029545
symbol: ASIC3
gene_biotype: protein_coding
description:
  Acid sensing ion channel subunit 3; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSUAMP00000029589
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: ENSUAMP00000029601
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: ENSUAMP00000029605
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: ENSUAMP00000029610
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: ENSUAMP00000029641
symbol: KIF7
gene_biotype: protein_coding
description:
  Kinesin family member 7; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000029679
symbol: ENSUAMP00000029679
gene_biotype: protein_coding
description:
  Guanylate cyclase domain-containing protein; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.


ensembl_gene_id: ENSUAMP00000029715
symbol: SLC9A3R2
gene_biotype: protein_coding
description:
  Na(+)/H(+) exchange regulatory cofactor NHE-RF; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression.


ensembl_gene_id: ENSUAMP00000029719
symbol: NTHL1
gene_biotype: protein_coding
description:
  Endonuclease III-like protein 1; Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage. The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP lyase activity cleaves the phosphodiester bond 3' to the AP site by a beta-elimination. Primarily recognizes and repairs oxidative base damage of pyrimidines.


ensembl_gene_id: ENSUAMP00000029728
symbol: MYH10
gene_biotype: protein_coding
description:
  Myosin heavy chain 10; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSUAMP00000029746
symbol: ST6GALNAC5
gene_biotype: protein_coding
description:
  ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSUAMP00000029812
symbol: TRMT1
gene_biotype: protein_coding
description:
  tRNA methyltransferase 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. Trm1 family.


ensembl_gene_id: ENSUAMP00000029895
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: ENSUAMP00000029908
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: ENSUAMP00000029917
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: ENSUAMP00000029954
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: ENSUAMP00000029960
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: ENSUAMP00000030019
symbol: AK1
gene_biotype: protein_coding
description:
  Adenylate kinase isoenzyme 1; Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism.


ensembl_gene_id: ENSUAMP00000030036
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: ENSUAMP00000030089
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: ENSUAMP00000030093
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: ENSUAMP00000030135
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: ENSUAMP00000030142
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: ENSUAMP00000030275
symbol: FLT3
gene_biotype: protein_coding
description:
  Fms related tyrosine kinase 3; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSUAMP00000030289
symbol: FLT1
gene_biotype: protein_coding
description:
  Fms related tyrosine kinase 1; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSUAMP00000030328
symbol: EIF1AX
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 1A X-linked; 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: ENSUAMP00000030332
symbol: SNF8
gene_biotype: protein_coding
description:
  Vacuolar-sorting protein SNF8; Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. Belongs to the SNF8 family.


ensembl_gene_id: ENSUAMP00000030336
symbol: ENSUAMP00000030336
gene_biotype: protein_coding
description:
  Podocalyxin; Involved in the regulation of both adhesion and cell morphology and cancer progression. Function as an anti-adhesive molecule that maintains an open filtration pathway between neighboring foot processes in the podocyte by charge repulsion. Belongs to the podocalyxin family.


ensembl_gene_id: ENSUAMP00000030344
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: ENSUAMP00000030397
symbol: ENSUAMP00000030397
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: ENSUAMP00000030544
symbol: ENSUAMP00000030544
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: ENSUAMP00000030582
symbol: DUSP15
gene_biotype: protein_coding
description:
  Dual specificity phosphatase 15; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily.


ensembl_gene_id: ENSUAMP00000030592
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: ENSUAMP00000030593
symbol: DNMT3B
gene_biotype: protein_coding
description:
  DNA methyltransferase 3 beta; Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.


ensembl_gene_id: ENSUAMP00000030631
symbol: OTC
gene_biotype: protein_coding
description:
  Ornithine carbamoyltransferase; Belongs to the aspartate/ornithine carbamoyltransferase superfamily.


ensembl_gene_id: ENSUAMP00000030693
symbol: ENSUAMP00000030693
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: ENSUAMP00000030713
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: ENSUAMP00000030764
symbol: ENSUAMP00000030764
gene_biotype: protein_coding
description:
  Cation_ATPase_N domain-containing protein; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family.


ensembl_gene_id: ENSUAMP00000030795
symbol: ATXN7L3
gene_biotype: protein_coding
description:
  Ataxin-7-like protein 3; Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to recruit USP22 and EN [...]


ensembl_gene_id: ENSUAMP00000030880
symbol: HSD17B10
gene_biotype: protein_coding
description:
  Hydroxysteroid 17-beta dehydrogenase 10; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSUAMP00000030910
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: ENSUAMP00000030935
symbol: PLPBP
gene_biotype: protein_coding
description:
  Pyridoxal phosphate homeostasis protein; Pyridoxal 5'-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5'- phosphate (PLP), the active form of vitamin B6; Belongs to the pyridoxal phosphate-binding protein YggS/PROSC family.


ensembl_gene_id: ENSUAMP00000030939
symbol: GABRG1
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor gamma1 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000030967
symbol: GABRA2
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor alpha2 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000030980
symbol: MYH7B
gene_biotype: protein_coding
description:
  Myosin heavy chain 7B; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.


ensembl_gene_id: ENSUAMP00000030992
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: ENSUAMP00000031036
symbol: ASIC4
gene_biotype: protein_coding
description:
  Acid sensing ion channel subunit family member 4; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family.


ensembl_gene_id: ENSUAMP00000031119
symbol: TYRO3
gene_biotype: protein_coding
description:
  TYRO3 protein tyrosine kinase; Belongs to the protein kinase superfamily. Tyr protein kinase family.


ensembl_gene_id: ENSUAMP00000031138
symbol: ISCU
gene_biotype: protein_coding
description:
  Iron-sulfur cluster assembly enzyme; 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: ENSUAMP00000031169
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: ENSUAMP00000031174
symbol: ST8SIA2
gene_biotype: protein_coding
description:
  ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSUAMP00000031178
symbol: ENSUAMP00000031178
gene_biotype: protein_coding
description:
  Na_Ca_ex domain-containing protein; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSUAMP00000031236
symbol: BLOC1S3
gene_biotype: protein_coding
description:
  Biogenesis of lysosome-related organelles complex 1 subunit 3; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO). Belongs to the BLOC1S3 family.


ensembl_gene_id: ENSUAMP00000031240
symbol: COQ7
gene_biotype: protein_coding
description:
  5-demethoxyubiquinone hydroxylase, mitochondrial; Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6- methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis. Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone- independent manner.


ensembl_gene_id: ENSUAMP00000031262
symbol: RET
gene_biotype: protein_coding
description:
  Proto-oncogene tyrosine-protein kinase receptor Ret; Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation upon binding with glial cell derived neurotrophic factor family ligands.


ensembl_gene_id: ENSUAMP00000031267
symbol: OR52W1
gene_biotype: protein_coding
description:
  Olfactory receptor family 52 subfamily W member 1; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSUAMP00000031314
symbol: DCAF11
gene_biotype: protein_coding
description:
  DDB1- and CUL4-associated factor 11; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; Belongs to the WD repeat LEC14B family.


ensembl_gene_id: ENSUAMP00000031430
symbol: SLC2A5
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 5; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSUAMP00000031478
symbol: ENSUAMP00000031478
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: ENSUAMP00000031549
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: ENSUAMP00000031670
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: ENSUAMP00000031695
symbol: KIF26A
gene_biotype: protein_coding
description:
  Kinesin family member 26A; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000031740
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: ENSUAMP00000031798
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: ENSUAMP00000031801
symbol: HSPB9
gene_biotype: protein_coding
description:
  Heat shock protein family B (small) member 9; Belongs to the small heat shock protein (HSP20) family.


ensembl_gene_id: ENSUAMP00000031831
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: ENSUAMP00000031838
symbol: PDHA1
gene_biotype: protein_coding
description:
  Pyruvate dehydrogenase E1 component subunit alpha; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2).


ensembl_gene_id: ENSUAMP00000031907
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: ENSUAMP00000031921
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: ENSUAMP00000031925
symbol: YWHAZ
gene_biotype: protein_coding
description:
  Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta; Belongs to the 14-3-3 family.


ensembl_gene_id: ENSUAMP00000032005
symbol: ADCY4
gene_biotype: protein_coding
description:
  Adenylate cyclase type 4; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSUAMP00000032036
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: ENSUAMP00000032070
symbol: LONP1
gene_biotype: protein_coding
description:
  Lon protease homolog, mitochondrial; ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single-stranded, site-specific, and strand- specific manner. May regulate mi [...]


ensembl_gene_id: ENSUAMP00000032076
symbol: ENSUAMP00000032076
gene_biotype: protein_coding
description:
  MICOS complex subunit MIC13; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane.


ensembl_gene_id: ENSUAMP00000032191
symbol: ACLY
gene_biotype: protein_coding
description:
  ATP-citrate synthase; Catalyzes the cleavage of citrate into oxaloacetate and acetyl-CoA, the latter serving as common substrate for de novo cholesterol and fatty acid synthesis; In the N-terminal section; belongs to the succinate/malate CoA ligase beta subunit family.


ensembl_gene_id: ENSUAMP00000032231
symbol: RBFOX1
gene_biotype: protein_coding
description:
  RNA binding protein fox-1 homolog 1; RNA-binding protein that regulates alternative splicing events.


ensembl_gene_id: ENSUAMP00000032242
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: ENSUAMP00000032247
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: ENSUAMP00000032249
symbol: CSF1R
gene_biotype: protein_coding
description:
  Colony stimulating factor 1 receptor; Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.


ensembl_gene_id: ENSUAMP00000032250
symbol: PDGFRB
gene_biotype: protein_coding
description:
  Platelet-derived growth factor receptor beta; Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells.


ensembl_gene_id: ENSUAMP00000032351
symbol: SEC13
gene_biotype: protein_coding
description:
  SEC13 homolog, nuclear pore and COPII coat complex component; Belongs to the WD repeat SEC13 family.


ensembl_gene_id: ENSUAMP00000032396
symbol: ADCY7
gene_biotype: protein_coding
description:
  Adenylate cyclase type 7; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSUAMP00000032491
symbol: GPD2
gene_biotype: protein_coding
description:
  Glycerol-3-phosphate dehydrogenase; Belongs to the FAD-dependent glycerol-3-phosphate dehydrogenase family.


ensembl_gene_id: ENSUAMP00000032544
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: ENSUAMP00000032611
symbol: NSUN2
gene_biotype: protein_coding
description:
  NOP2/Sun RNA methyltransferase 2; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.


ensembl_gene_id: ENSUAMP00000032629
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: ENSUAMP00000032701
symbol: PHGDH
gene_biotype: protein_coding
description:
  D-3-phosphoglycerate dehydrogenase; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.


ensembl_gene_id: ENSUAMP00000032812
symbol: PIK3C2B
gene_biotype: protein_coding
description:
  Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta; Belongs to the PI3/PI4-kinase family.


ensembl_gene_id: ENSUAMP00000032851
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: ENSUAMP00000032923
symbol: ENSUAMP00000032923
gene_biotype: protein_coding
description:
  Phosphatase and tensin homolog; Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine- phosphorylated proteins. Also acts as a lipid phosphatase. Belongs to the PTEN phosphatase protein family.


ensembl_gene_id: ENSUAMP00000032940
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: ENSUAMP00000032968
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: ENSUAMP00000033036
symbol: LPXN
gene_biotype: protein_coding
description:
  Leupaxin; Transcriptional coactivator for androgen receptor (AR) and serum response factor (SRF). Contributes to the regulation of cell adhesion, spreading and cell migration and acts as a negative regulator in integrin-mediated cell adhesion events. Suppresses the integrin- induced tyrosine phosphorylation of paxillin (PXN).


ensembl_gene_id: ENSUAMP00000033043
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: ENSUAMP00000033094
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: ENSUAMP00000033123
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: ENSUAMP00000033153
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: ENSUAMP00000033193
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: ENSUAMP00000033297
symbol: KCNK1
gene_biotype: protein_coding
description:
  Potassium two pore domain channel subfamily K member 1; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.


ensembl_gene_id: ENSUAMP00000033378
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: ENSUAMP00000033396
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: ENSUAMP00000033459
symbol: PPOX
gene_biotype: protein_coding
description:
  Protoporphyrinogen oxidase; Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX.


ensembl_gene_id: ENSUAMP00000033522
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: ENSUAMP00000033531
symbol: HSD17B2
gene_biotype: protein_coding
description:
  Hydroxysteroid 17-beta dehydrogenase 2; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSUAMP00000033566
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: ENSUAMP00000033669
symbol: KIF5A
gene_biotype: protein_coding
description:
  Kinesin family member 5A; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000033690
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: ENSUAMP00000033737
symbol: ENSUAMP00000033737
gene_biotype: protein_coding
description:
  Ammonium_transp domain-containing protein; Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.


ensembl_gene_id: ENSUAMP00000033814
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: ENSUAMP00000033818
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: ENSUAMP00000033841
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: ENSUAMP00000033851
symbol: SDR16C5
gene_biotype: protein_coding
description:
  Short chain dehydrogenase/reductase family 16C member 5; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSUAMP00000033877
symbol: SLC2A2
gene_biotype: protein_coding
description:
  Solute carrier family 2 member 2; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family.


ensembl_gene_id: ENSUAMP00000033884
symbol: HSD17B13
gene_biotype: protein_coding
description:
  Hydroxysteroid 17-beta dehydrogenase 13; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSUAMP00000033885
symbol: HSD17B11
gene_biotype: protein_coding
description:
  Hydroxysteroid 17-beta dehydrogenase 11; Belongs to the short-chain dehydrogenases/reductases (SDR) family.


ensembl_gene_id: ENSUAMP00000033892
symbol: ETFDH
gene_biotype: protein_coding
description:
  Electron transfer flavoprotein-ubiquinone oxidoreductase; Accepts electrons from ETF and reduces ubiquinone.


ensembl_gene_id: ENSUAMP00000033911
symbol: ENSUAMP00000033911
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: ENSUAMP00000033930
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: ENSUAMP00000034047
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: ENSUAMP00000034122
symbol: ST8SIA3
gene_biotype: protein_coding
description:
  ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSUAMP00000034142
symbol: SEPTIN8
gene_biotype: protein_coding
description:
  Septin 8; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSUAMP00000034174
symbol: ENSUAMP00000034174
gene_biotype: protein_coding
description:
  Ribosomal_L18e/L15P domain-containing protein; Belongs to the universal ribosomal protein uL15 family.


ensembl_gene_id: ENSUAMP00000034297
symbol: CDC42BPB
gene_biotype: protein_coding
description:
  CDC42 binding protein kinase beta; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.


ensembl_gene_id: ENSUAMP00000034355
symbol: PANK4
gene_biotype: protein_coding
description:
  4'-phosphopantetheine phosphatase; May play a role in the physiological regulation of coenzyme A (CoA) intracellular levels. The phosphatase activity shows preference for normal or oxidatively damaged intermediates of 4'- phosphopantetheine, which provides strong indirect evidence that the phosphatase activity pre-empts damage in the CoA pathway.


ensembl_gene_id: ENSUAMP00000034452
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: ENSUAMP00000034499
symbol: PIGV
gene_biotype: protein_coding
description:
  GPI mannosyltransferase 2; Mannosyltransferase involved in glycosylphosphatidylinositol- anchor biosynthesis.


ensembl_gene_id: ENSUAMP00000034505
symbol: GPN2
gene_biotype: protein_coding
description:
  GPN-loop GTPase 2; Small GTPase required for proper localization of RNA polymerase II and III (RNAPII and RNAPIII). May act at an RNAP assembly step prior to nuclear import; Belongs to the GPN-loop GTPase family.


ensembl_gene_id: ENSUAMP00000034585
symbol: ROR2
gene_biotype: protein_coding
description:
  Receptor tyrosine kinase like orphan receptor 2; Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily.


ensembl_gene_id: ENSUAMP00000034642
symbol: MAP4K5
gene_biotype: protein_coding
description:
  Mitogen-activated protein kinase kinase kinase kinase 5; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.


ensembl_gene_id: ENSUAMP00000034677
symbol: RBP5
gene_biotype: protein_coding
description:
  Retinol binding protein 5; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.


ensembl_gene_id: ENSUAMP00000034706
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: ENSUAMP00000034720
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: ENSUAMP00000034728
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: ENSUAMP00000034741
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: ENSUAMP00000034809
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: ENSUAMP00000034816
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: ENSUAMP00000034969
symbol: ELP1
gene_biotype: protein_coding
description:
  Elongator complex protein 1; Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation. Belongs to the ELP1/IKA1 family.


ensembl_gene_id: ENSUAMP00000034988
symbol: ATAT1
gene_biotype: protein_coding
description:
  Alpha-tubulin N-acetyltransferase 1; Specifically acetylates 'Lys-40' in alpha-tubulin on the lumenal side of microtubules. Promotes microtubule destabilization and accelerates microtubule dynamics; this activity may be independent of acetylation activity. Acetylates alpha-tubulin with a slow enzymatic rate, due to a catalytic site that is not optimized for acetyl transfer. Enters the microtubule through each end and diffuses quickly throughout the lumen of microtubules. Acetylates only long/old microtubules because of its slow acetylation rate since it does not have time to act on dyn [...]


ensembl_gene_id: ENSUAMP00000034990
symbol: KIF13B
gene_biotype: protein_coding
description:
  Kinesin family member 13B; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000034998
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: ENSUAMP00000035063
symbol: OR6K3
gene_biotype: protein_coding
description:
  Olfactory receptor family 6 subfamily K member 3; Belongs to the G-protein coupled receptor 1 family.


ensembl_gene_id: ENSUAMP00000035110
symbol: TRMT2B
gene_biotype: protein_coding
description:
  tRNA methyltransferase 2 homolog B; Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA M5U methyltransferase family.


ensembl_gene_id: ENSUAMP00000035182
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: ENSUAMP00000035202
symbol: MX1
gene_biotype: protein_coding
description:
  MX dynamin like GTPase 1; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSUAMP00000035227
symbol: MX2
gene_biotype: protein_coding
description:
  MX dynamin like GTPase 2; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSUAMP00000035327
symbol: GJA1
gene_biotype: protein_coding
description:
  Gap junction alpha-1 protein; Gap junction protein that acts as a regulator of bladder capacity. A 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. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli a [...]


ensembl_gene_id: ENSUAMP00000035337
symbol: MOCS2
gene_biotype: protein_coding
description:
  Molybdopterin synthase catalytic subunit; Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group; Belongs to the MoaE family. MOCS2B subfamily.


ensembl_gene_id: ENSUAMP00000035394
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: ENSUAMP00000035420
symbol: GBA2
gene_biotype: protein_coding
description:
  Non-lysosomal glucosylceramidase; Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramide (GlcCer) to free glucose and ceramide.


ensembl_gene_id: ENSUAMP00000035450
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: ENSUAMP00000035518
symbol: SLC24A4
gene_biotype: protein_coding
description:
  Solute carrier family 24 member 4; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSUAMP00000035534
symbol: AP5M1
gene_biotype: protein_coding
description:
  Adaptor related protein complex 5 subunit mu 1; Belongs to the adaptor complexes medium subunit family.


ensembl_gene_id: ENSUAMP00000035694
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: ENSUAMP00000035722
symbol: ADCY6
gene_biotype: protein_coding
description:
  Adenylate cyclase type 6; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling.


ensembl_gene_id: ENSUAMP00000035743
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: ENSUAMP00000035769
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: ENSUAMP00000035794
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: ENSUAMP00000035799
symbol: EIF2C4
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: ENSUAMP00000035807
symbol: KIF27
gene_biotype: protein_coding
description:
  Kinesin family member 27; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000035821
symbol: NCLN
gene_biotype: protein_coding
description:
  Nicalin; May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning.


ensembl_gene_id: ENSUAMP00000035842
symbol: NFIC
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: ENSUAMP00000035851
symbol: TAT
gene_biotype: protein_coding
description:
  Tyrosine aminotransferase; Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate.


ensembl_gene_id: ENSUAMP00000035867
symbol: ST8SIA1
gene_biotype: protein_coding
description:
  ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSUAMP00000036041
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: ENSUAMP00000036045
symbol: OPA1
gene_biotype: protein_coding
description:
  OPA1 mitochondrial dynamin like GTPase; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSUAMP00000036082
symbol: MPV17L2
gene_biotype: protein_coding
description:
  MPV17 mitochondrial inner membrane protein like 2; Belongs to the peroxisomal membrane protein PXMP2/4 family.


ensembl_gene_id: ENSUAMP00000036150
symbol: TRDMT1
gene_biotype: protein_coding
description:
  tRNA aspartic acid methyltransferase 1; Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.


ensembl_gene_id: ENSUAMP00000036159
symbol: ST8SIA6
gene_biotype: protein_coding
description:
  ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6; Belongs to the glycosyltransferase 29 family.


ensembl_gene_id: ENSUAMP00000036202
symbol: SEPTIN1
gene_biotype: protein_coding
description:
  Septin 1; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSUAMP00000036281
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: ENSUAMP00000036350
symbol: BGN
gene_biotype: protein_coding
description:
  Biglycan; May be involved in collagen fiber assembly. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily.


ensembl_gene_id: ENSUAMP00000036448
symbol: LIMS2
gene_biotype: protein_coding
description:
  LIM and senescent cell antigen-like-containing domain protein; Adapter protein in a cytoplasmic complex linking beta- integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors.


ensembl_gene_id: ENSUAMP00000036610
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: ENSUAMP00000036708
symbol: TRPV4
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily V member 4; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSUAMP00000036726
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: ENSUAMP00000036736
symbol: GABRA3
gene_biotype: protein_coding
description:
  Gamma-aminobutyric acid type A receptor alpha3 subunit; Belongs to the ligand-gated ion channel (TC 1.A.9) family.


ensembl_gene_id: ENSUAMP00000036751
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: ENSUAMP00000036902
symbol: ENSUAMP00000036902
gene_biotype: protein_coding
description:
  Histone deacetylase 8; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.


ensembl_gene_id: ENSUAMP00000036933
symbol: EIF4E3
gene_biotype: protein_coding
description:
  Eukaryotic translation initiation factor 4E family member 3; Belongs to the eukaryotic initiation factor 4E family.


ensembl_gene_id: ENSUAMP00000036949
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: ENSUAMP00000036977
symbol: DIS3
gene_biotype: protein_coding
description:
  DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease; Belongs to the RNR ribonuclease family.


ensembl_gene_id: ENSUAMP00000037003
symbol: KCNV1
gene_biotype: protein_coding
description:
  Potassium voltage-gated channel modifier subfamily V member 1; Belongs to the potassium channel family.


ensembl_gene_id: ENSUAMP00000037014
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: ENSUAMP00000037017
symbol: TRPV1
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily V member 1; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSUAMP00000037034
symbol: PPAT
gene_biotype: protein_coding
description:
  Amidophosphoribosyltransferase; In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.


ensembl_gene_id: ENSUAMP00000037039
symbol: TRPV3
gene_biotype: protein_coding
description:
  Transient receptor potential cation channel subfamily V member 3; Belongs to the transient receptor (TC 1.A.4) family.


ensembl_gene_id: ENSUAMP00000037057
symbol: HPS6
gene_biotype: protein_coding
description:
  Hermansky-Pudlak syndrome 6 protein homolog; May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules.


ensembl_gene_id: ENSUAMP00000037066
symbol: ELOVL3
gene_biotype: protein_coding
description:
  Elongation of very long chain fatty acids protein 3; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18:0 acyl-CoAs. May participate to the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precurs [...]


ensembl_gene_id: ENSUAMP00000037076
symbol: CMPK1
gene_biotype: protein_coding
description:
  UMP-CMP kinase; Catalyzes the phosphorylation of pyrimidine nucleoside monophosphates at the expense of ATP. Plays an important role in de novo pyrimidine nucleotide biosynthesis. Has preference for UMP and CMP as phosphate acceptors. Also displays broad nucleoside diphosphate kinase activity; Belongs to the adenylate kinase family. UMP-CMP kinase subfamily.


ensembl_gene_id: ENSUAMP00000037087
symbol: EPO
gene_biotype: protein_coding
description:
  Erythropoietin; Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass. Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3. Belongs to the EPO/TPO family.


ensembl_gene_id: ENSUAMP00000037088
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: ENSUAMP00000037214
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: ENSUAMP00000037307
symbol: EHD2
gene_biotype: protein_coding
description:
  EH domain containing 2; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.


ensembl_gene_id: ENSUAMP00000037309
symbol: NOP53
gene_biotype: protein_coding
description:
  Ribosome biogenesis protein NOP53; May play a role in ribosome biogenesis. Belongs to the NOP53 family.


ensembl_gene_id: ENSUAMP00000037450
symbol: HDAC3
gene_biotype: protein_coding
description:
  Histone deacetylase 3; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4), and some other non-histone substrates. Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.


ensembl_gene_id: ENSUAMP00000037467
symbol: SEPTIN6
gene_biotype: protein_coding
description:
  Septin 6; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.


ensembl_gene_id: ENSUAMP00000037495
symbol: SLC8B1
gene_biotype: protein_coding
description:
  Solute carrier family 8 member B1; Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family.


ensembl_gene_id: ENSUAMP00000037523
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: ENSUAMP00000037524
symbol: KIF1B
gene_biotype: protein_coding
description:
  Kinesin family member 1B; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.


ensembl_gene_id: ENSUAMP00000037551
symbol: TNK2
gene_biotype: protein_coding
description:
  Tyrosine kinase non receptor 2; Belongs to the protein kinase superfamily. Tyr protein kinase family.


ensembl_gene_id: ENSUAMP00000037557
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.


