psui3905/ncbi_genes_summary huggingface dataset:
HERC5, Official Symbol HERC5provided by HGNC Official Full Name HECT and RLD domain containing E3 ubiquitin protein ligase 5provided by HGNC Primary source HGNC:HGNC:24368 See related Ensembl:ENSG00000138646 MIM:608242; AllianceGenome:HGNC:24368 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 CEB1; CEBP1 Summary This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The protein also acts as a modulator of the antiviral immune response. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Aug 2021] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Broad expression in testis (RPKM 31.7), endometrium (RPKM 6.3) and 17 other tissues See more Orthologs all
HERC6, Official Symbol HERC6provided by HGNC Official Full Name HECT and RLD domain containing E3 ubiquitin protein ligase family member 6provided by HGNC Primary source HGNC:HGNC:26072 See related Ensembl:ENSG00000138642 MIM:609249; AllianceGenome:HGNC:26072 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 HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in esophagus (RPKM 12.4), gall bladder (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
HERPUD1, Official Symbol HERPUD1provided by HGNC Official Full Name homocysteine inducible ER protein with ubiquitin like domain 1provided by HGNC Primary source HGNC:HGNC:13744 See related Ensembl:ENSG00000051108 MIM:608070; AllianceGenome:HGNC:13744 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 SUP; HERP; Mif1 Summary The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013] Expression Ubiquitous expression in thyroid (RPKM 145.7), prostate (RPKM 120.9) and 25 other tissues See more Orthologs mouse all
HERPUD2, Official Symbol HERPUD2provided by HGNC Official Full Name HERPUD family member 2provided by HGNC Primary source HGNC:HGNC:21915 See related Ensembl:ENSG00000122557 AllianceGenome:HGNC:21915 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 be involved in endoplasmic reticulum unfolded protein response. Predicted to act upstream of or within spermatogenesis. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 12.4), ovary (RPKM 12.2) and 25 other tissues See more Orthologs mouse all
HERPUD2-AS1, Official Symbol HERPUD2-AS1provided by HGNC Official Full Name HERPUD2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:55258 See related Ensembl:ENSG00000271122 AllianceGenome:HGNC:55258 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HES1, Official Symbol HES1provided by HGNC Official Full Name hes family bHLH transcription factor 1provided by HGNC Primary source HGNC:HGNC:5192 See related Ensembl:ENSG00000114315 MIM:139605; AllianceGenome:HGNC:5192 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 HHL; HRY; HES-1; bHLHb39 Summary This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 46.7), thyroid (RPKM 44.9) and 24 other tissues See more Orthologs mouse all
HES2, Official Symbol HES2provided by HGNC Official Full Name hes family bHLH transcription factor 2provided by HGNC Primary source HGNC:HGNC:16005 See related Ensembl:ENSG00000069812 MIM:609970; AllianceGenome:HGNC:16005 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 bHLHb40 Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in anterior/posterior pattern specification; regulation of neurogenesis; and regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 5.8), esophagus (RPKM 4.3) and 7 other tissues See more Orthologs mouse all
HES3, Official Symbol HES3provided by HGNC Official Full Name hes family bHLH transcription factor 3provided by HGNC Primary source HGNC:HGNC:26226 See related Ensembl:ENSG00000173673 MIM:609971; AllianceGenome:HGNC:26226 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 bHLHb43 Summary Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; E-box binding activity; and N-box binding activity. Predicted to be involved in several processes, including Notch signaling pathway; negative regulation of neuron differentiation; and regulation of neurogenesis. Predicted to act upstream of or within several processes, including nervous system development; regulation of timing of neuron differentiation; and regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
HES4, Official Symbol HES4provided by HGNC Official Full Name hes family bHLH transcription factor 4provided by HGNC Primary source HGNC:HGNC:24149 See related Ensembl:ENSG00000188290 MIM:608060; AllianceGenome:HGNC:24149 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 bHLHb42 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in anterior/posterior pattern specification and regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 3.0), prostate (RPKM 2.2) and 19 other tissues See more Orthologs all
HES5, Official Symbol HES5provided by HGNC Official Full Name hes family bHLH transcription factor 5provided by HGNC Primary source HGNC:HGNC:19764 See related Ensembl:ENSG00000197921 MIM:607348; AllianceGenome:HGNC:19764 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 bHLHb38 Summary This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
HES6, Official Symbol HES6provided by HGNC Official Full Name hes family bHLH transcription factor 6provided by HGNC Primary source HGNC:HGNC:18254 See related Ensembl:ENSG00000144485 MIM:610331; AllianceGenome:HGNC:18254 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 HES-6; bHLHb41; bHLHc23; C-HAIRY1 Summary This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encoded by this gene functions as a cofactor, interacting with other transcription factors through a tetrapeptide domain in its C-terminus. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Dec 2008] Expression Biased expression in brain (RPKM 23.5), colon (RPKM 8.2) and 12 other tissues See more Orthologs mouse all
HES7, Official Symbol HES7provided by HGNC Official Full Name hes family bHLH transcription factor 7provided by HGNC Primary source HGNC:HGNC:15977 See related Ensembl:ENSG00000179111 MIM:608059; AllianceGenome:HGNC:15977 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 SCDO4; hHes7; bHLHb37 Summary This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
HESX1, Official Symbol HESX1provided by HGNC Official Full Name HESX homeobox 1provided by HGNC Primary source HGNC:HGNC:4877 See related Ensembl:ENSG00000163666 MIM:601802; AllianceGenome:HGNC:4877 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 ANF; RPX; CPHD5 Summary This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 1.6), skin (RPKM 0.6) and 24 other tissues See more Orthologs mouse all
HEXA, Official Symbol HEXAprovided by HGNC Official Full Name hexosaminidase subunit alphaprovided by HGNC Primary source HGNC:HGNC:4878 See related Ensembl:ENSG00000213614 MIM:606869; AllianceGenome:HGNC:4878 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 TSD Summary This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in placenta (RPKM 36.4), thyroid (RPKM 34.8) and 25 other tissues See more Orthologs mouse all
HEXA-AS1, Official Symbol HEXA-AS1provided by HGNC Official Full Name HEXA antisense RNA 1provided by HGNC Primary source HGNC:HGNC:25810 See related Ensembl:ENSG00000260339 AllianceGenome:HGNC:25810 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C15orf34
HEXB, Official Symbol HEXBprovided by HGNC Official Full Name hexosaminidase subunit betaprovided by HGNC Primary source HGNC:HGNC:4879 See related Ensembl:ENSG00000049860 MIM:606873; AllianceGenome:HGNC:4879 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 ENC-1AS; HEL-248; HEL-S-111 Summary Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] Expression Ubiquitous expression in placenta (RPKM 128.3), colon (RPKM 50.8) and 25 other tissues See more Orthologs mouse all
HEXD, Official Symbol HEXDprovided by HGNC Official Full Name hexosaminidase Dprovided by HGNC Primary source HGNC:HGNC:26307 See related Ensembl:ENSG00000169660 MIM:616864; AllianceGenome:HGNC:26307 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 HEXDC Summary Enables beta-N-acetylhexosaminidase activity. Predicted to be involved in carbohydrate metabolic process. Located in extracellular vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 11.1), prostate (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
HEXIM1, Official Symbol HEXIM1provided by HGNC Official Full Name HEXIM P-TEFb complex subunit 1provided by HGNC Primary source HGNC:HGNC:24953 See related Ensembl:ENSG00000186834 MIM:607328; AllianceGenome:HGNC:24953 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 CLP1; EDG1; HIS1; MAQ1 Summary Expression of this gene is induced by hexamethylene-bis-acetamide in vascular smooth muscle cells. This gene has no introns. [provided by RefSeq, Jul 2008] Orthologs mouse all
HEXIM2, Official Symbol HEXIM2provided by HGNC Official Full Name HEXIM P-TEFb complex subunit 2provided by HGNC Primary source HGNC:HGNC:28591 See related Ensembl:ENSG00000168517 MIM:615695; AllianceGenome:HGNC:28591 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 L3 Summary This gene encodes a member of the HEXIM family of proteins. This protein is a component of the 7SK small nuclear ribonucleoprotein. This protein has been found to negatively regulate the kinase activity of the cyclin-dependent kinase P-TEFb, which phosphorylates multiple target proteins to promote transcriptional elongation. This gene is located approximately 7 kb downstream from related family member HEXIM1 on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Expression Broad expression in testis (RPKM 8.0), kidney (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
HEY1, Official Symbol HEY1provided by HGNC Official Full Name hes related family bHLH transcription factor with YRPW motif 1provided by HGNC Primary source HGNC:HGNC:4880 See related Ensembl:ENSG00000164683 MIM:602953; AllianceGenome:HGNC:4880 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 CHF2; OAF1; HERP2; HESR1; HRT-1; NERP2; hHRT1; BHLHb31 Summary This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 32.0), lung (RPKM 10.8) and 9 other tissues See more Orthologs mouse all
HEY2, Official Symbol HEY2provided by HGNC Official Full Name hes related family bHLH transcription factor with YRPW motif 2provided by HGNC Primary source HGNC:HGNC:4881 See related Ensembl:ENSG00000135547 MIM:604674; AllianceGenome:HGNC:4881 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 GRL; CHF1; HRT2; HERP1; HESR2; bHLHb32; GRIDLOCK Summary This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in endometrium (RPKM 2.9), brain (RPKM 2.7) and 22 other tissues See more Orthologs mouse all
HEYL, Official Symbol HEYLprovided by HGNC Official Full Name hes related family bHLH transcription factor with YRPW motif likeprovided by HGNC Primary source HGNC:HGNC:4882 See related Ensembl:ENSG00000163909 MIM:609034; AllianceGenome:HGNC:4882 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 HEY3; HRT3; HESR3; bHLHb33 Summary This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 14.5), placenta (RPKM 14.3) and 23 other tissues See more Orthologs mouse all
HFE, Official Symbol HFEprovided by HGNC Official Full Name homeostatic iron regulatorprovided by HGNC Primary source HGNC:HGNC:4886 See related Ensembl:ENSG00000010704 MIM:613609; AllianceGenome:HGNC:4886 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 HH; HFE1; HLA-H; MVCD7; TFQTL2 Summary The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. [provided by RefSeq, May 2022] Expression Ubiquitous expression in thyroid (RPKM 5.0), gall bladder (RPKM 4.6) and 24 other tissues See more Orthologs mouse all
HFM1, Official Symbol HFM1provided by HGNC Official Full Name helicase for meiosis 1provided by HGNC Primary source HGNC:HGNC:20193 See related Ensembl:ENSG00000162669 MIM:615684; AllianceGenome:HGNC:20193 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 MER3; POF9; Si-11; SEC63D1; Si-11-6; helicase Summary The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014] Expression Biased expression in testis (RPKM 6.6), ovary (RPKM 1.4) and 3 other tissues See more Orthologs mouse all
HGD, Official Symbol HGDprovided by HGNC Official Full Name homogentisate 1,2-dioxygenaseprovided by HGNC Primary source HGNC:HGNC:4892 See related Ensembl:ENSG00000113924 MIM:607474; AllianceGenome:HGNC:4892 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 AKU; HGO Summary This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010] Expression Biased expression in liver (RPKM 82.5), kidney (RPKM 39.4) and 7 other tissues See more Orthologs mouse all
HGF, Official Symbol HGFprovided by HGNC Official Full Name hepatocyte growth factorprovided by HGNC Primary source HGNC:HGNC:4893 See related Ensembl:ENSG00000019991 MIM:142409; AllianceGenome:HGNC:4893 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 SF; HGFB; HPTA; F-TCF; DFNB39 Summary This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate alpha and beta chains, which form the mature heterodimer. This protein is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. This protein also plays a role in angiogenesis, tumorogenesis, and tissue regeneration. Although the encoded protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Mutations in this gene are associated with nonsyndromic hearing loss. [provided by RefSeq, Nov 2015] Expression Biased expression in placenta (RPKM 90.6), adrenal (RPKM 7.0) and 2 other tissues See more Orthologs mouse all
HGFAC, Official Symbol HGFACprovided by HGNC Official Full Name HGF activatorprovided by HGNC Primary source HGNC:HGNC:4894 See related Ensembl:ENSG00000109758 MIM:604552; AllianceGenome:HGNC:4894 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 HGFA Summary This gene encodes a member of the peptidase S1 protein family. The encoded protein is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoproteolytic processing. It acts as serine protease that converts hepatocyte growth factor to the active form. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Restricted expression toward liver (RPKM 27.9) See more Orthologs mouse all
HGH1, Official Symbol HGH1provided by HGNC Official Full Name HGH1 homologprovided by HGNC Primary source HGNC:HGNC:24161 See related Ensembl:ENSG00000235173 AllianceGenome:HGNC:24161 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 BRP16; BRP16L; FAM203A; FAM203B; C8orf30A; C8orf30B Expression Ubiquitous expression in testis (RPKM 6.8), thyroid (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
HGS, Official Symbol HGSprovided by HGNC Official Full Name hepatocyte growth factor-regulated tyrosine kinase substrateprovided by HGNC Primary source HGNC:HGNC:4897 See related Ensembl:ENSG00000185359 MIM:604375; AllianceGenome:HGNC:4897 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 HRS Summary The protein encoded by this gene regulates endosomal sorting and plays a critical role in the recycling and degradation of membrane receptors. The encoded protein sorts monoubiquitinated membrane proteins into the multivesicular body, targeting these proteins for lysosome-dependent degradation. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in testis (RPKM 20.7), bone marrow (RPKM 16.1) and 25 other tissues See more Orthologs mouse all
HGSNAT, Official Symbol HGSNATprovided by HGNC Official Full Name heparan-alpha-glucosaminide N-acetyltransferaseprovided by HGNC Primary source HGNC:HGNC:26527 See related Ensembl:ENSG00000165102 MIM:610453; AllianceGenome:HGNC:26527 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 RP73; HGNAT; MPS3C; TMEM76 Summary This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009] Expression Ubiquitous expression in skin (RPKM 11.5), gall bladder (RPKM 11.3) and 25 other tissues See more Orthologs mouse all
HHAT, Official Symbol HHATprovided by HGNC Official Full Name hedgehog acyltransferaseprovided by HGNC Primary source HGNC:HGNC:18270 See related Ensembl:ENSG00000054392 MIM:605743; AllianceGenome:HGNC:18270 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 Skn; NNMS; SKI1; MART2 Summary 'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002] Expression Ubiquitous expression in thyroid (RPKM 3.0), gall bladder (RPKM 1.6) and 25 other tissues See more Orthologs mouse all
HHATL, Official Symbol HHATLprovided by HGNC Official Full Name hedgehog acyltransferase likeprovided by HGNC Primary source HGNC:HGNC:13242 See related Ensembl:ENSG00000010282 MIM:608116; AllianceGenome:HGNC:13242 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 GUP1; OACT3; C3orf3; MBOAT3; MSTP002 Summary Predicted to enable acyltransferase activity. Predicted to be involved in negative regulation of N-terminal protein palmitoylation. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward heart (RPKM 165.4) See more Orthologs mouse all
HHATL-AS1, Official Symbol HHATL-AS1provided by HGNC Official Full Name HHATL antisense RNA 1provided by HGNC Primary source HGNC:HGNC:42439 See related Ensembl:ENSG00000230970 AllianceGenome:HGNC:42439 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HHEX, Official Symbol HHEXprovided by HGNC Official Full Name hematopoietically expressed homeoboxprovided by HGNC Primary source HGNC:HGNC:4901 See related Ensembl:ENSG00000152804 MIM:604420; AllianceGenome:HGNC:4901 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 HEX; PRH; HMPH; PRHX; HOX11L-PEN Summary This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. [provided by RefSeq, Jul 2008] Expression Broad expression in thyroid (RPKM 53.2), liver (RPKM 28.6) and 14 other tissues See more Orthologs mouse all
HHIP, Official Symbol HHIPprovided by HGNC Official Full Name hedgehog interacting proteinprovided by HGNC Primary source HGNC:HGNC:14866 See related Ensembl:ENSG00000164161 MIM:606178; AllianceGenome:HGNC:14866 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 HIP Summary This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011] Expression Biased expression in lung (RPKM 8.1), brain (RPKM 4.1) and 12 other tissues See more Orthologs mouse all
HHIP-AS1, Official Symbol HHIP-AS1provided by HGNC Official Full Name HHIP antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44182 See related Ensembl:ENSG00000248890 AllianceGenome:HGNC:44182 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HHAS1 Expression Broad expression in lung (RPKM 5.8), prostate (RPKM 2.1) and 16 other tissues See more
HHIPL1, Official Symbol HHIPL1provided by HGNC Official Full Name HHIP like 1provided by HGNC Primary source HGNC:HGNC:19710 See related Ensembl:ENSG00000182218 AllianceGenome:HGNC:19710 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 UNQ9245; KIAA1822 Summary This gene encodes a protein that belongs to the glucose/sorbosone dehydrogenase family. The encoded protein also contains a domain that binds folate and reduced folic acid derivatives. [provided by RefSeq, Jul 2016] Expression Broad expression in brain (RPKM 2.0), gall bladder (RPKM 0.6) and 20 other tissues See more Orthologs mouse all
HHIPL2, Official Symbol HHIPL2provided by HGNC Official Full Name HHIP like 2provided by HGNC Primary source HGNC:HGNC:25842 See related Ensembl:ENSG00000143512 MIM:620214; AllianceGenome:HGNC:25842 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 KIAA1822L Summary Predicted to enable catalytic activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 5.8), bone marrow (RPKM 3.9) and 24 other tissues See more Orthologs mouse all
HHLA1, Official Symbol HHLA1provided by HGNC Official Full Name HHLA1 neighbor of OC90provided by HGNC Primary source HGNC:HGNC:4904 See related Ensembl:ENSG00000132297 MIM:604109; AllianceGenome:HGNC:4904 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 PLA2L Summary Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
HHLA2, Official Symbol HHLA2provided by HGNC Official Full Name HHLA2 member of B7 familyprovided by HGNC Primary source HGNC:HGNC:4905 See related Ensembl:ENSG00000114455 MIM:604371; AllianceGenome:HGNC:4905 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 B7y; B7H7; B7-H5; B7-H7 Summary This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the proliferation of these cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Biased expression in small intestine (RPKM 36.3), colon (RPKM 25.6) and 4 other tissues See more Orthologs mouse all
HIBADH, Official Symbol HIBADHprovided by HGNC Official Full Name 3-hydroxyisobutyrate dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:4907 See related Ensembl:ENSG00000106049 MIM:608475; AllianceGenome:HGNC:4907 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 NS5ATP1 Summary This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in kidney (RPKM 59.3), adrenal (RPKM 50.9) and 24 other tissues See more Orthologs mouse all
HIBCH, Official Symbol HIBCHprovided by HGNC Official Full Name 3-hydroxyisobutyryl-CoA hydrolaseprovided by HGNC Primary source HGNC:HGNC:4908 See related Ensembl:ENSG00000198130 MIM:610690; AllianceGenome:HGNC:4908 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 HIBYLCOAH Summary This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] Expression Broad expression in kidney (RPKM 69.9), adrenal (RPKM 32.9) and 23 other tissues See more Orthologs mouse all
HIC1, Official Symbol HIC1provided by HGNC Official Full Name HIC ZBTB transcriptional repressor 1provided by HGNC Primary source HGNC:HGNC:4909 See related Ensembl:ENSG00000177374 MIM:603825; AllianceGenome:HGNC:4909 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 hic-1; ZBTB29; ZNF901 Summary This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010] Expression Broad expression in fat (RPKM 8.9), endometrium (RPKM 4.9) and 19 other tissues See more Orthologs mouse all
HIC2, Official Symbol HIC2provided by HGNC Official Full Name HIC ZBTB transcriptional repressor 2provided by HGNC Primary source HGNC:HGNC:18595 See related Ensembl:ENSG00000169635 MIM:607712; AllianceGenome:HGNC:18595 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 HRG22; ZBTB30; ZNF907 Summary Enables protein C-terminus binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 3.4), testis (RPKM 2.9) and 25 other tissues See more Orthologs mouse all
HID1, Official Symbol HID1provided by HGNC Official Full Name HID1 domain containingprovided by HGNC Primary source HGNC:HGNC:15736 See related Ensembl:ENSG00000167861 MIM:605752; AllianceGenome:HGNC:15736 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 DMC1; HID-1; DEE105; 17orf28; C17orf28 Summary Located in Golgi cisterna; cytoplasmic microtubule; and cytosol. Is extrinsic component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in stomach (RPKM 20.2), prostate (RPKM 17.0) and 21 other tissues See more Orthologs mouse all
HID1-AS1, Official Symbol HID1-AS1provided by HGNC Official Full Name HID1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51181 See related Ensembl:ENSG00000263586 AllianceGenome:HGNC:51181 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 Low expression observed in reference dataset See more
HIF1A, Official Symbol HIF1Aprovided by HGNC Official Full Name hypoxia inducible factor 1 subunit alphaprovided by HGNC Primary source HGNC:HGNC:4910 See related Ensembl:ENSG00000100644 MIM:603348; AllianceGenome:HGNC:4910 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 HIF1; MOP1; PASD8; HIF-1A; bHLHe78; HIF-1alpha; HIF1-ALPHA; HIF-1-alpha Summary This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011] Expression Broad expression in bone marrow (RPKM 164.2), gall bladder (RPKM 101.1) and 24 other tissues See more Orthologs mouse all
HIF1A-AS3, Official Symbol HIF1A-AS3provided by HGNC Official Full Name HIF1A antisense RNA 3provided by HGNC Primary source HGNC:HGNC:54284 See related Ensembl:ENSG00000258667 AllianceGenome:HGNC:54284 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HIFAL Expression Biased expression in bone marrow (RPKM 1.2), heart (RPKM 0.9) and 10 other tissues See more Orthologs mouse all
HIF1AN, Official Symbol HIF1ANprovided by HGNC Official Full Name hypoxia inducible factor 1 subunit alpha inhibitorprovided by HGNC Primary source HGNC:HGNC:17113 See related Ensembl:ENSG00000166135 MIM:606615; AllianceGenome:HGNC:17113 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 FIH1 Summary Enables several functions, including 2-oxoglutarate-dependent dioxygenase activity; NF-kappaB binding activity; and transition metal ion binding activity. Involved in several processes, including negative regulation of Notch signaling pathway; negative regulation of transcription from RNA polymerase II promoter in response to hypoxia; and protein hydroxylation. Located in cytosol; nucleoplasm; and perinuclear region of cytoplasm. Colocalizes with nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 12.2), skin (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
HIF1AP1, Official Symbol HIF1AP1provided by HGNC Official Full Name HIF1AP pseudogene 1provided by HGNC Primary source HGNC:HGNC:43016 See related Ensembl:ENSG00000258978 AllianceGenome:HGNC:43016 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HIF3A, Official Symbol HIF3Aprovided by HGNC Official Full Name hypoxia inducible factor 3 subunit alphaprovided by HGNC Primary source HGNC:HGNC:15825 See related Ensembl:ENSG00000124440 MIM:609976; AllianceGenome:HGNC:15825 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 IPAS; MOP7; PASD7; HIF-3A; bHLHe17; HIF3-alpha-1 Summary The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011] Expression Broad expression in placenta (RPKM 8.3), spleen (RPKM 6.6) and 17 other tissues See more Orthologs mouse all