psui3905/ncbi_genes_summary huggingface dataset:
ATAD3C, Official Symbol ATAD3Cprovided by HGNC Official Full Name ATPase family AAA domain containing 3Cprovided by HGNC Primary source HGNC:HGNC:32151 See related Ensembl:ENSG00000215915 MIM:617227; AllianceGenome:HGNC:32151 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable zinc ion binding activity. Predicted to be involved in mitochondrion organization. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 1.1), kidney (RPKM 0.9) and 25 other tissues See more Orthologs all
ATAD5, Official Symbol ATAD5provided by HGNC Official Full Name ATPase family AAA domain containing 5provided by HGNC Primary source HGNC:HGNC:25752 See related Ensembl:ENSG00000176208 MIM:609534; AllianceGenome:HGNC:25752 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ELG1; FRAG1; C17orf41 Summary Enables DNA clamp unloader activity. Involved in DNA clamp unloading; positive regulation of DNA replication; and positive regulation of cell cycle G2/M phase transition. Part of Elg1 RFC-like complex. Biomarker of neurilemmoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 3.8), lymph node (RPKM 1.6) and 19 other tissues See more Orthologs mouse all
ATAT1, Official Symbol ATAT1provided by HGNC Official Full Name alpha tubulin acetyltransferase 1provided by HGNC Primary source HGNC:HGNC:21186 See related Ensembl:ENSG00000137343 MIM:615556; AllianceGenome:HGNC:21186 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TAT; MEC17; C6orf134; Nbla00487; alpha-TAT; alpha-TAT1 Summary This gene encodes a protein that localizes to clathrin-coated pits, where it acetylates alpha tubulin on lysine 40. This process may be important in microtubule growth, for instance during chemotaxis and the formation of cilium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in brain (RPKM 7.7), testis (RPKM 3.5) and 23 other tissues See more Orthologs mouse all
ATCAY, Official Symbol ATCAYprovided by HGNC Official Full Name ATCAY kinesin light chain interacting caytaxinprovided by HGNC Primary source HGNC:HGNC:779 See related Ensembl:ENSG00000167654 MIM:608179; AllianceGenome:HGNC:779 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CLAC; BNIP-H Summary This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008] Expression Restricted expression toward brain (RPKM 41.1) See more Orthologs mouse all
ATE1, Official Symbol ATE1provided by HGNC Official Full Name arginyltransferase 1provided by HGNC Primary source HGNC:HGNC:782 See related Ensembl:ENSG00000107669 MIM:607103; AllianceGenome:HGNC:782 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in thyroid (RPKM 8.9), testis (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
ATE1-AS1, Official Symbol ATE1-AS1provided by HGNC Official Full Name ATE1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49496 See related Ensembl:ENSG00000226864 AllianceGenome:HGNC:49496 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in testis (RPKM 4.5), ovary (RPKM 3.4) and 17 other tissues See more
ATF1, Official Symbol ATF1provided by HGNC Official Full Name activating transcription factor 1provided by HGNC Primary source HGNC:HGNC:783 See related Ensembl:ENSG00000123268 MIM:123803; AllianceGenome:HGNC:783 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TREB36; EWS-ATF1; FUS/ATF-1 Summary This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the expression of downstream target genes, which are related to growth, survival, and other cellular activities. This protein is phosphorylated at serine 63 in its kinase-inducible domain by serine/threonine kinases, cAMP-dependent protein kinase A, calmodulin-dependent protein kinase I/II, mitogen- and stress-activated protein kinase and cyclin-dependent kinase 3 (cdk-3). Its phosphorylation enhances its transactivation and transcriptional activities, and enhances cell transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene has a pseudogene on chromosome 6. [provided by RefSeq, Aug 2010] Expression Ubiquitous expression in thyroid (RPKM 6.8), adrenal (RPKM 5.9) and 25 other tissues See more Orthologs mouse all
ATF1P1, Official Symbol ATF1P1provided by HGNC Official Full Name activating transcription factor 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:37691 See related AllianceGenome:HGNC:37691 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ATF2, Official Symbol ATF2provided by HGNC Official Full Name activating transcription factor 2provided by HGNC Primary source HGNC:HGNC:784 See related Ensembl:ENSG00000115966 MIM:123811; AllianceGenome:HGNC:784 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HB16; CREB2; TREB7; CREB-2; CRE-BP1 Summary This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. The encoded protein may also be involved in cell's DNA damage response independent of its role in transcriptional regulation. Several alternatively spliced transcript variants have been found for this gene [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in thyroid (RPKM 19.6), brain (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
ATF3, Official Symbol ATF3provided by HGNC Official Full Name activating transcription factor 3provided by HGNC Primary source HGNC:HGNC:785 See related Ensembl:ENSG00000162772 MIM:603148; AllianceGenome:HGNC:785 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. This gene is induced by a variety of signals, including many of those encountered by cancer cells, and is involved in the complex process of cellular stress response. Multiple transcript variants encoding different isoforms have been found for this gene. It is possible that alternative splicing of this gene may be physiologically important in the regulation of target genes. [provided by RefSeq, Apr 2011] Expression Ubiquitous expression in gall bladder (RPKM 38.3), liver (RPKM 37.5) and 23 other tissues See more Orthologs mouse all
ATF4, Official Symbol ATF4provided by HGNC Official Full Name activating transcription factor 4provided by HGNC Primary source HGNC:HGNC:786 See related Ensembl:ENSG00000128272 MIM:604064; AllianceGenome:HGNC:786 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CREB2; TXREB; CREB-2; TAXREB67 Summary This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in bone marrow (RPKM 183.9), fat (RPKM 87.6) and 25 other tissues See more Orthologs mouse all
ATF5, Official Symbol ATF5provided by HGNC Official Full Name activating transcription factor 5provided by HGNC Primary source HGNC:HGNC:790 See related Ensembl:ENSG00000169136 MIM:606398; AllianceGenome:HGNC:790 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATFX; HMFN0395 Summary Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and tubulin binding activity. Involved in several processes, including fat cell differentiation; regulation of cell cycle process; and regulation of transcription, DNA-templated. Located in centrosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 197.1), thyroid (RPKM 55.7) and 2 other tissues See more Orthologs mouse all
ATF6, Official Symbol ATF6provided by HGNC Official Full Name activating transcription factor 6provided by HGNC Primary source HGNC:HGNC:791 See related Ensembl:ENSG00000118217 MIM:605537; AllianceGenome:HGNC:791 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACHM7; ATF6A; ATP6alpha Summary This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in thyroid (RPKM 11.4), placenta (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
ATF6B, Official Symbol ATF6Bprovided by HGNC Official Full Name activating transcription factor 6 betaprovided by HGNC Primary source HGNC:HGNC:2349 See related Ensembl:ENSG00000213676 MIM:600984; AllianceGenome:HGNC:2349 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as G13; CREBL1; CREB-RP; ATF6beta Summary The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in spleen (RPKM 32.2), skin (RPKM 32.1) and 25 other tissues See more Orthologs mouse all
ATF7, Official Symbol ATF7provided by HGNC Official Full Name activating transcription factor 7provided by HGNC Primary source HGNC:HGNC:792 See related Ensembl:ENSG00000170653 MIM:606371; AllianceGenome:HGNC:792 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATFA Summary Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; mitogen-activated protein kinase binding activity; and transcription coactivator binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Biomarker of colorectal cancer. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 9.8), fat (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
ATF7-NPFF, Official Symbol ATF7-NPFFprovided by HGNC Official Full Name ATF7-NPFF readthroughprovided by HGNC Primary source HGNC:HGNC:55073 See related Ensembl:ENSG00000267281 AllianceGenome:HGNC:55073 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable DNA binding activity and DNA-binding transcription factor activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ATF7IP, Official Symbol ATF7IPprovided by HGNC Official Full Name activating transcription factor 7 interacting proteinprovided by HGNC Primary source HGNC:HGNC:20092 See related Ensembl:ENSG00000171681 MIM:613644; AllianceGenome:HGNC:20092 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AM; MCAF; p621; MCAF1; ATF-IP; ATF7IP1 Summary ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in lymph node (RPKM 8.4), testis (RPKM 8.3) and 25 other tissues See more Orthologs mouse all
ATF7IP2, Official Symbol ATF7IP2provided by HGNC Official Full Name activating transcription factor 7 interacting protein 2provided by HGNC Primary source HGNC:HGNC:20397 See related Ensembl:ENSG00000166669 MIM:613645; AllianceGenome:HGNC:20397 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MCAF2 Summary Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 6.9), lymph node (RPKM 2.0) and 24 other tissues See more Orthologs mouse all
ATG10, Official Symbol ATG10provided by HGNC Official Full Name autophagy related 10provided by HGNC Primary source HGNC:HGNC:20315 See related Ensembl:ENSG00000152348 MIM:610800; AllianceGenome:HGNC:20315 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APG10; APG10L; pp12616 Summary Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in testis (RPKM 1.1), thyroid (RPKM 0.8) and 25 other tissues See more Orthologs mouse all
ATG10-IT1, Official Symbol ATG10-IT1provided by HGNC Official Full Name ATG10 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41455 See related AllianceGenome:HGNC:41455 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
ATG101, Official Symbol ATG101provided by HGNC Official Full Name autophagy related 101provided by HGNC Primary source HGNC:HGNC:25679 See related Ensembl:ENSG00000123395 MIM:615089; AllianceGenome:HGNC:25679 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C12orf44 Summary Enables identical protein binding activity. Involved in autophagosome assembly. Located in phagophore assembly site. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 16.2), thyroid (RPKM 14.2) and 25 other tissues See more Orthologs mouse all
ATG12, Official Symbol ATG12provided by HGNC Official Full Name autophagy related 12provided by HGNC Primary source HGNC:HGNC:588 See related Ensembl:ENSG00000145782 MIM:609608; AllianceGenome:HGNC:588 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APG12; FBR93; APG12L; HAPG12 Summary Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in brain (RPKM 8.9), fat (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
ATG12P2, Official Symbol ATG12P2provided by HGNC Official Full Name autophagy related 12 pseudogene 2provided by HGNC Primary source HGNC:HGNC:38605 See related AllianceGenome:HGNC:38605 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ATG13, Official Symbol ATG13provided by HGNC Official Full Name autophagy related 13provided by HGNC Primary source HGNC:HGNC:29091 See related Ensembl:ENSG00000175224 MIM:615088; AllianceGenome:HGNC:29091 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KIAA0652; PARATARG8 Summary The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in testis (RPKM 17.3), brain (RPKM 12.2) and 25 other tissues See more Orthologs mouse all
ATG14, Official Symbol ATG14provided by HGNC Official Full Name autophagy related 14provided by HGNC Primary source HGNC:HGNC:19962 See related Ensembl:ENSG00000126775 MIM:613515; AllianceGenome:HGNC:19962 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATG14L; BARKOR; KIAA0831 Summary Enables GTPase binding activity. Involved in several processes, including macroautophagy; regulation of phosphorylation; and response to mitochondrial depolarisation. Acts upstream of or within endosome to lysosome transport. Located in autophagosome and phagophore assembly site membrane. Is extrinsic component of omegasome membrane and extrinsic component of phagophore assembly site membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 13.8), testis (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
ATG16L1, Official Symbol ATG16L1provided by HGNC Official Full Name autophagy related 16 like 1provided by HGNC Primary source HGNC:HGNC:21498 See related Ensembl:ENSG00000085978 MIM:610767; AllianceGenome:HGNC:21498 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IBD10; WDR30; APG16L; ATG16A; ATG16L Summary The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010] Expression Ubiquitous expression in bone marrow (RPKM 12.7), testis (RPKM 12.0) and 25 other tissues See more Orthologs mouse all
ATG16L2, Official Symbol ATG16L2provided by HGNC Official Full Name autophagy related 16 like 2provided by HGNC Primary source HGNC:HGNC:25464 See related Ensembl:ENSG00000168010 MIM:618716; AllianceGenome:HGNC:25464 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WDR80; ATG16B Summary Predicted to be involved in autophagosome assembly and negative stranded viral RNA replication. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 22.5), skin (RPKM 19.9) and 24 other tissues See more Orthologs mouse all
ATG2A, Official Symbol ATG2Aprovided by HGNC Official Full Name autophagy related 2Aprovided by HGNC Primary source HGNC:HGNC:29028 See related Ensembl:ENSG00000110046 MIM:616225; AllianceGenome:HGNC:29028 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BLTP4A Summary Predicted to enable phosphatidylinositol-3-phosphate binding activity. Involved in autophagosome assembly. Predicted to be located in endoplasmic reticulum membrane; lipid droplet; and phagophore assembly site membrane. Predicted to be active in phagophore assembly site. Predicted to be extrinsic component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 17.3), spleen (RPKM 4.8) and 25 other tissues See more Orthologs mouse all
ATG2B, Official Symbol ATG2Bprovided by HGNC Official Full Name autophagy related 2Bprovided by HGNC Primary source HGNC:HGNC:20187 See related Ensembl:ENSG00000066739 MIM:616226; AllianceGenome:HGNC:20187 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BLTP4B; C14orf103 Summary This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in testis (RPKM 8.1), skin (RPKM 7.0) and 25 other tissues See more Orthologs mouse all
ATG3, Official Symbol ATG3provided by HGNC Official Full Name autophagy related 3provided by HGNC Primary source HGNC:HGNC:20962 See related Ensembl:ENSG00000144848 MIM:609606; AllianceGenome:HGNC:20962 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APG3; APG3L; hApg3; PC3-96; APG3-LIKE Summary This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in testis (RPKM 24.5), bone marrow (RPKM 17.6) and 25 other tissues See more Orthologs mouse all
ATG3P1, Official Symbol ATG3P1provided by HGNC Official Full Name autophagy related 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:31123 See related AllianceGenome:HGNC:31123 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AGP3; ATG3P; dJ54G6.1
ATG4A, Official Symbol ATG4Aprovided by HGNC Official Full Name autophagy related 4A cysteine peptidaseprovided by HGNC Primary source HGNC:HGNC:16489 See related Ensembl:ENSG00000101844 MIM:300663; AllianceGenome:HGNC:16489 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APG4A; AUTL2; HsAPG4A Summary Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in thyroid (RPKM 5.4), colon (RPKM 5.0) and 25 other tissues See more Orthologs mouse all
ATG4B, Official Symbol ATG4Bprovided by HGNC Official Full Name autophagy related 4B cysteine peptidaseprovided by HGNC Primary source HGNC:HGNC:20790 See related Ensembl:ENSG00000168397 MIM:611338; AllianceGenome:HGNC:20790 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APG4B; AUTL1; HsAPG4B Summary Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 14.5), duodenum (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
ATG4C, Official Symbol ATG4Cprovided by HGNC Official Full Name autophagy related 4C cysteine peptidaseprovided by HGNC Primary source HGNC:HGNC:16040 See related Ensembl:ENSG00000125703 MIM:611339; AllianceGenome:HGNC:16040 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APG4C; AUTL1; AUTL3; APG4-C; HsAPG4C Summary Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 4.0), placenta (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
ATG4D, Official Symbol ATG4Dprovided by HGNC Official Full Name autophagy related 4D cysteine peptidaseprovided by HGNC Primary source HGNC:HGNC:20789 See related Ensembl:ENSG00000130734 MIM:611340; AllianceGenome:HGNC:20789 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APG4D; AUTL4; APG4-D; HsAPG4D Summary Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Broad expression in testis (RPKM 21.1), duodenum (RPKM 13.4) and 25 other tissues See more Orthologs mouse all
ATG5, Official Symbol ATG5provided by HGNC Official Full Name autophagy related 5provided by HGNC Primary source HGNC:HGNC:589 See related Ensembl:ENSG00000057663 MIM:604261; AllianceGenome:HGNC:589 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ASP; APG5; APG5L; hAPG5; SCAR25; APG5-LIKE Summary The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in thyroid (RPKM 11.9), adrenal (RPKM 11.0) and 25 other tissues See more Orthologs mouse all
ATG7, Official Symbol ATG7provided by HGNC Official Full Name autophagy related 7provided by HGNC Primary source HGNC:HGNC:16935 See related Ensembl:ENSG00000197548 MIM:608760; AllianceGenome:HGNC:16935 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GSA7; APG7L; SCAR31; APG7-LIKE Summary This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in ovary (RPKM 10.0), thyroid (RPKM 8.3) and 25 other tissues See more Orthologs mouse all
ATG9A, Official Symbol ATG9Aprovided by HGNC Official Full Name autophagy related 9Aprovided by HGNC Primary source HGNC:HGNC:22408 See related Ensembl:ENSG00000198925 MIM:612204; AllianceGenome:HGNC:22408 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as mATG9; APG9L1; MGD3208 Summary Acts upstream of or within autophagosome assembly. Located in endosome; phagophore assembly site; and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 45.2), brain (RPKM 19.5) and 25 other tissues See more Orthologs mouse all
ATG9B, Official Symbol ATG9Bprovided by HGNC Official Full Name autophagy related 9Bprovided by HGNC Primary source HGNC:HGNC:21899 See related Ensembl:ENSG00000181652 MIM:612205; AllianceGenome:HGNC:21899 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SONE; APG9L2; NOS3AS Summary This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] Expression Broad expression in skin (RPKM 9.1), placenta (RPKM 8.7) and 15 other tissues See more Orthologs mouse all
ATIC, Official Symbol ATICprovided by HGNC Official Full Name 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolaseprovided by HGNC Primary source HGNC:HGNC:794 See related Ensembl:ENSG00000138363 MIM:601731; AllianceGenome:HGNC:794 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PURH; AICAR; AICARFT; IMPCHASE; HEL-S-70p Summary This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009] Expression Ubiquitous expression in lymph node (RPKM 19.1), placenta (RPKM 17.9) and 25 other tissues See more Orthologs mouse all
ATL1, Official Symbol ATL1provided by HGNC Official Full Name atlastin GTPase 1provided by HGNC Primary source HGNC:HGNC:11231 See related Ensembl:ENSG00000198513 MIM:606439; AllianceGenome:HGNC:11231 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FSP1; GBP3; SPG3; HSN1D; SPG3A; AD-FSP; atlastin1 Summary The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 34.8), endometrium (RPKM 5.1) and 15 other tissues See more Orthologs mouse all
ATL2, Official Symbol ATL2provided by HGNC Official Full Name atlastin GTPase 2provided by HGNC Primary source HGNC:HGNC:24047 See related Ensembl:ENSG00000119787 MIM:609368; AllianceGenome:HGNC:24047 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as aip-2; ARL3IP2; ARL6IP2; atlastin2 Summary Enables identical protein binding activity. Involved in Golgi organization; endoplasmic reticulum tubular network membrane organization; and protein homooligomerization. Located in endoplasmic reticulum tubular network membrane. Is integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 13.5), skin (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
ATL3, Official Symbol ATL3provided by HGNC Official Full Name atlastin GTPase 3provided by HGNC Primary source HGNC:HGNC:24526 See related Ensembl:ENSG00000184743 MIM:609369; AllianceGenome:HGNC:24526 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSN1F Summary This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014] Expression Ubiquitous expression in fat (RPKM 13.6), thyroid (RPKM 12.0) and 25 other tissues See more Orthologs mouse all
ATM, Official Symbol ATMprovided by HGNC Official Full Name ATM serine/threonine kinaseprovided by HGNC Primary source HGNC:HGNC:795 See related Ensembl:ENSG00000149311 MIM:607585; AllianceGenome:HGNC:795 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1 Summary The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010] Expression Ubiquitous expression in lymph node (RPKM 15.4), spleen (RPKM 9.5) and 25 other tissues See more Orthologs mouse all
ATMIN, Official Symbol ATMINprovided by HGNC Official Full Name ATM interactorprovided by HGNC Primary source HGNC:HGNC:29034 See related Ensembl:ENSG00000166454 MIM:614693; AllianceGenome:HGNC:29034 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ASCIZ; ZNF822 Summary Enables dynein complex binding activity. Involved in positive regulation of transcription, DNA-templated. Located in nuclear body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 24.3), brain (RPKM 16.0) and 25 other tissues See more Orthologs mouse all
ATN1, Official Symbol ATN1provided by HGNC Official Full Name atrophin 1provided by HGNC Primary source HGNC:HGNC:3033 See related Ensembl:ENSG00000111676 MIM:607462; AllianceGenome:HGNC:3033 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as B37; HRS; NOD; DRPLA; CHEDDA; D12S755E Summary Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in ovary (RPKM 68.4), brain (RPKM 46.0) and 24 other tissues See more Orthologs mouse all
ATOH1, Official Symbol ATOH1provided by HGNC Official Full Name atonal bHLH transcription factor 1provided by HGNC Primary source HGNC:HGNC:797 See related Ensembl:ENSG00000172238 MIM:601461; AllianceGenome:HGNC:797 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATH1; HATH1; DFNA89; MATH-1; bHLHa14 Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in neuron differentiation; positive regulation of neuron differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including generation of neurons; inner ear morphogenesis; and positive regulation of inner ear auditory receptor cell differentiation. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
ATOH7, Official Symbol ATOH7provided by HGNC Official Full Name atonal bHLH transcription factor 7provided by HGNC Primary source HGNC:HGNC:13907 See related Ensembl:ENSG00000179774 MIM:609875; AllianceGenome:HGNC:13907 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Math5; NCRNA; RNANC; PHPVAR; bHLHa13 Summary This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011] Orthologs mouse all