psui3905/ncbi_genes_summary huggingface dataset:
HIGD1A, Official Symbol HIGD1Aprovided by HGNC Official Full Name HIG1 hypoxia inducible domain family member 1Aprovided by HGNC Primary source HGNC:HGNC:29527 See related Ensembl:ENSG00000181061 MIM:618623; AllianceGenome:HGNC:29527 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 HIG1; RCF1a Summary Acts upstream of or within negative regulation of apoptotic process. Located in mitochondrion and nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 73.6), heart (RPKM 47.7) and 24 other tissues See more Orthologs mouse all
HIGD1AP1, Official Symbol HIGD1AP1provided by HGNC Official Full Name HIG1 hypoxia inducible domain family member 1A pseudogene 1provided by HGNC Primary source HGNC:HGNC:22804 See related AllianceGenome:HGNC:22804 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 HIG1; HIGD1D; HIGD1DP
HIGD1AP10, Official Symbol HIGD1AP10provided by HGNC Official Full Name HIG1 hypoxia inducible domain family member 1A pseudogene 10provided by HGNC Primary source HGNC:HGNC:43005 See related AllianceGenome:HGNC:43005 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HIGD1AP13, Official Symbol HIGD1AP13provided by HGNC Official Full Name HIG1 hypoxia inducible domain family member 1A pseudogene 13provided by HGNC Primary source HGNC:HGNC:43008 See related Ensembl:ENSG00000251019 AllianceGenome:HGNC:43008 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HIGD1AP15, Official Symbol HIGD1AP15provided by HGNC Official Full Name HIG1 hypoxia inducible domain family member 1A pseudogene 15provided by HGNC Primary source HGNC:HGNC:43010 See related AllianceGenome:HGNC:43010 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HIGD1AP16, Official Symbol HIGD1AP16provided by HGNC Official Full Name HIG1 hypoxia inducible domain family member 1A pseudogene 16provided by HGNC Primary source HGNC:HGNC:43011 See related AllianceGenome:HGNC:43011 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HIGD1AP18, Official Symbol HIGD1AP18provided by HGNC Official Full Name HIG1 hypoxia inducible domain family member 1A pseudogene 18provided by HGNC Primary source HGNC:HGNC:43013 See related AllianceGenome:HGNC:43013 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HIGD1AP6, Official Symbol HIGD1AP6provided by HGNC Official Full Name HIG1 hypoxia inducible domain family member 1A pseudogene 6provided by HGNC Primary source HGNC:HGNC:43001 See related Ensembl:ENSG00000253229 AllianceGenome:HGNC:43001 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HIGD1AP8, Official Symbol HIGD1AP8provided by HGNC Official Full Name HIG1 hypoxia inducible domain family member 1A pseudogene 8provided by HGNC Primary source HGNC:HGNC:43003 See related Ensembl:ENSG00000237303 AllianceGenome:HGNC:43003 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HIGD1B, Official Symbol HIGD1Bprovided by HGNC Official Full Name HIG1 hypoxia inducible domain family member 1Bprovided by HGNC Primary source HGNC:HGNC:24318 See related Ensembl:ENSG00000131097 MIM:620420; AllianceGenome:HGNC:24318 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 CLST11240; CLST11240-15 Summary This gene encodes a member of the hypoxia inducible gene 1 (HIG1) domain family. The encoded protein is localized to the cell membrane and has been linked to tumorigenesis and the progression of pituitary adenomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] Expression Biased expression in placenta (RPKM 9.3), lung (RPKM 4.3) and 9 other tissues See more Orthologs mouse all
HIGD1C, Official Symbol HIGD1Cprovided by HGNC Official Full Name HIG1 hypoxia inducible domain family member 1Cprovided by HGNC Primary source HGNC:HGNC:28044 See related Ensembl:ENSG00000214511 AllianceGenome:HGNC:28044 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 GM921 Summary Predicted to be involved in mitochondrial respirasome assembly. Predicted to be integral component of membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
HIGD2A, Official Symbol HIGD2Aprovided by HGNC Official Full Name HIG1 hypoxia inducible domain family member 2Aprovided by HGNC Primary source HGNC:HGNC:28311 See related Ensembl:ENSG00000146066 AllianceGenome:HGNC:28311 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 RCF1b Summary The protein encoded by this gene is a subunit of the cytochrome c oxidase complex (complex IV), which is the terminal enzyme in the mitochondrial respiratory chain. The encoded protein is an inner mitochondrial membrane protein and is a functional ortholog of the yeast respiratory supercomplex factor 1 (Rcf1). In mouse, the orthologous protein enhances cell survival under conditions of hypoxia. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in heart (RPKM 70.3), colon (RPKM 67.0) and 25 other tissues See more Orthologs mouse all
HIGD2AP1, Official Symbol HIGD2AP1provided by HGNC Official Full Name HIGD2A pseudogene 1provided by HGNC Primary source HGNC:HGNC:54793 See related Ensembl:ENSG00000230047 AllianceGenome:HGNC:54793 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HIGD2AP2, Official Symbol HIGD2AP2provided by HGNC Official Full Name HIGD2A pseudogene 2provided by HGNC Primary source HGNC:HGNC:54794 See related AllianceGenome:HGNC:54794 Gene type protein coding RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HIGD2B, Official Symbol HIGD2Bprovided by HGNC Official Full Name HIG1 hypoxia inducible domain family member 2Bprovided by HGNC Primary source HGNC:HGNC:26984 See related Ensembl:ENSG00000175202 AllianceGenome:HGNC:26984 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 HIGD2BP Summary Predicted to be involved in mitochondrial respirasome assembly. Predicted to be integral component of membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 2.2) See more Orthologs all
HIKESHI, Official Symbol HIKESHIprovided by HGNC Official Full Name heat shock protein nuclear import factor hikeshiprovided by HGNC Primary source HGNC:HGNC:26938 See related Ensembl:ENSG00000149196 MIM:614908; AllianceGenome:HGNC:26938 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 HLD13; L7RN6; OPI10; HSPC138; HSPC179; C11orf73 Summary This gene encodes an evolutionarily conserved nuclear transport receptor that mediates heat-shock-induced nuclear import of 70 kDa heat-shock proteins (Hsp70s) through interactions with FG-nucleoporins. The protein mediates transport of the ATP form but not the ADP form of Hsp70 proteins under conditions of heat shock stress. Structural analyses demonstrate that the protein forms an asymmetric homodimer and that the N-terminal domain consists of a jelly-roll/beta-sandwich fold structure that contains hydrophobic pockets involved in FG-nucleoporin recognition. Reduction of RNA expression levels in HeLa cells using small interfering RNAs results in inhibition of heat shock-induced nuclear accumulation of Hsp70s, indicating a role for this gene in regulation of Hsp70 nuclear import during heat shock stress. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in endometrium (RPKM 9.0), placenta (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
HIKESHIP1, Official Symbol HIKESHIP1provided by HGNC Official Full Name HIKESHI pseudogene 1provided by HGNC Primary source HGNC:HGNC:54901 See related AllianceGenome:HGNC:54901 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HIKESHIP2, Official Symbol HIKESHIP2provided by HGNC Official Full Name HIKESHI pseudogene 2provided by HGNC Primary source HGNC:HGNC:54902 See related Ensembl:ENSG00000267544 AllianceGenome:HGNC:54902 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HIKESHIP3, Official Symbol HIKESHIP3provided by HGNC Official Full Name HIKESHI pseudogene 3provided by HGNC Primary source HGNC:HGNC:54904 See related Ensembl:ENSG00000271081 AllianceGenome:HGNC:54904 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HILPDA, Official Symbol HILPDAprovided by HGNC Official Full Name hypoxia inducible lipid droplet associatedprovided by HGNC Primary source HGNC:HGNC:28859 See related Ensembl:ENSG00000135245 MIM:617905; AllianceGenome:HGNC:28859 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 HIG2; HIG-2; C7orf68 Summary Enables signaling receptor binding activity. Involved in several processes, including autocrine signaling; cellular response to hypoxia; and positive regulation of lipid storage. Located in several cellular components, including cell surface; lipid droplet; and secretory granule. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in esophagus (RPKM 37.4), fat (RPKM 20.9) and 20 other tissues See more Orthologs mouse all
HINFP, Official Symbol HINFPprovided by HGNC Official Full Name histone H4 transcription factorprovided by HGNC Primary source HGNC:HGNC:17850 See related Ensembl:ENSG00000172273 MIM:607099; AllianceGenome:HGNC:17850 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 MIZF; HiNF-P; ZNF743 Summary This gene encodes a transcription factor that interacts with methyl-CpG-binding protein-2 (MBD2), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2011] Expression Ubiquitous expression in testis (RPKM 6.2), lymph node (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
HINT1, Official Symbol HINT1provided by HGNC Official Full Name histidine triad nucleotide binding protein 1provided by HGNC Primary source HGNC:HGNC:4912 See related Ensembl:ENSG00000169567 MIM:601314; AllianceGenome:HGNC:4912 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 HINT; NMAN; PKCI-1; PRKCNH1 Summary This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif. This gene is considered a tumor suppressor gene. In addition, mutations in this gene can cause autosomal recessive neuromyotonia and axonal neuropathy. There are several related pseudogenes on chromosome 7. Several transcript variants have been observed. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in colon (RPKM 85.2), liver (RPKM 83.5) and 25 other tissues See more Orthologs mouse all
HINT1P1, Official Symbol HINT1P1provided by HGNC Official Full Name histidine triad nucleotide binding protein 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:18467 See related AllianceGenome:HGNC:18467 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 HINTP1
HINT1P2, Official Symbol HINT1P2provided by HGNC Official Full Name histidine triad nucleotide binding protein 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:38049 See related AllianceGenome:HGNC:38049 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HINT2, Official Symbol HINT2provided by HGNC Official Full Name histidine triad nucleotide binding protein 2provided by HGNC Primary source HGNC:HGNC:18344 See related Ensembl:ENSG00000137133 MIM:609997; AllianceGenome:HGNC:18344 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 HIT-17 Summary Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in kidney (RPKM 37.3), fat (RPKM 32.0) and 25 other tissues See more Orthologs mouse all
HINT3, Official Symbol HINT3provided by HGNC Official Full Name histidine triad nucleotide binding protein 3provided by HGNC Primary source HGNC:HGNC:18468 See related Ensembl:ENSG00000111911 MIM:609998; AllianceGenome:HGNC:18468 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 HINT4 Summary Histidine triad proteins, such as HINT3, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in brain (RPKM 18.9), prostate (RPKM 17.5) and 25 other tissues See more Orthologs mouse all
HIP1, Official Symbol HIP1provided by HGNC Official Full Name huntingtin interacting protein 1provided by HGNC Primary source HGNC:HGNC:4913 See related Ensembl:ENSG00000127946 MIM:601767; AllianceGenome:HGNC:4913 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 SHON; HIP-I; ILWEQ; SHONbeta; SHONgamma Summary The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in brain (RPKM 11.4), lung (RPKM 10.8) and 23 other tissues See more Orthologs mouse all
HIP1R, Official Symbol HIP1Rprovided by HGNC Official Full Name huntingtin interacting protein 1 relatedprovided by HGNC Primary source HGNC:HGNC:18415 See related Ensembl:ENSG00000130787 MIM:605613; AllianceGenome:HGNC:18415 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 HIP3; HIP12; ILWEQ Summary Enables several functions, including phosphatidylinositol phosphate binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and protein homodimerization activity. Involved in several processes, including positive regulation of signal transduction; protein stabilization; and regulation of organelle organization. Located in clathrin-coated vesicle; cytosol; and ruffle membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 19.4), kidney (RPKM 16.5) and 25 other tissues See more Orthologs mouse all
HIPK1, Official Symbol HIPK1provided by HGNC Official Full Name homeodomain interacting protein kinase 1provided by HGNC Primary source HGNC:HGNC:19006 See related Ensembl:ENSG00000163349 MIM:608003; AllianceGenome:HGNC:19006 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 Myak; Nbak2 Summary The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 35.1), testis (RPKM 21.2) and 25 other tissues See more Orthologs mouse all
HIPK1-AS1, Official Symbol HIPK1-AS1provided by HGNC Official Full Name HIPK1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50576 See related Ensembl:ENSG00000235527 AllianceGenome:HGNC:50576 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 Biased expression in testis (RPKM 1.3), bone marrow (RPKM 0.2) and 11 other tissues See more
HIPK2, Official Symbol HIPK2provided by HGNC Official Full Name homeodomain interacting protein kinase 2provided by HGNC Primary source HGNC:HGNC:14402 See related Ensembl:ENSG00000064393 MIM:606868; AllianceGenome:HGNC:14402 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 PRO0593 Summary This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending on the transcription factor and its subcellular localization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in brain (RPKM 22.7), kidney (RPKM 17.9) and 24 other tissues See more Orthologs mouse all
HIPK3, Official Symbol HIPK3provided by HGNC Official Full Name homeodomain interacting protein kinase 3provided by HGNC Primary source HGNC:HGNC:4915 See related Ensembl:ENSG00000110422 MIM:604424; AllianceGenome:HGNC:4915 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 PKY; YAK1; DYRK6; FIST3 Summary Enables protein serine/threonine kinase activity. Involved in mRNA transcription; negative regulation of apoptotic process; and protein phosphorylation. Located in cytosol; nuclear body; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 29.7), gall bladder (RPKM 21.4) and 25 other tissues See more Orthologs mouse all
HIPK4, Official Symbol HIPK4provided by HGNC Official Full Name homeodomain interacting protein kinase 4provided by HGNC Primary source HGNC:HGNC:19007 See related Ensembl:ENSG00000160396 MIM:611712; AllianceGenome:HGNC:19007 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 homeodomain interacting protein kinase (HIPK) family of proteins. While other members of this family are found throughout vertebrates, this member is present only in mammals. Compared to other members of this family, the encoded protein lacks a nuclear localization signal and a C-terminal autoinhibitory domain. The encoded protein exhibits kinase activity and may phosphorylate the tumor suppressor protein p53. [provided by RefSeq, Jul 2016] Expression Restricted expression toward testis (RPKM 7.8) See more Orthologs mouse all
HIRA, Official Symbol HIRAprovided by HGNC Official Full Name histone cell cycle regulatorprovided by HGNC Primary source HGNC:HGNC:4916 See related Ensembl:ENSG00000100084 MIM:600237; AllianceGenome:HGNC:4916 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 TUP1; DGCR1; TUPLE1 Summary This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 43.4), bone marrow (RPKM 10.9) and 24 other tissues See more Orthologs mouse all
HIRAP1, Official Symbol HIRAP1provided by HGNC Official Full Name histone cell cycle regulator pseudogene 1provided by HGNC Primary source HGNC:HGNC:44916 See related Ensembl:ENSG00000271563 AllianceGenome:HGNC:44916 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HIRIP3, Official Symbol HIRIP3provided by HGNC Official Full Name HIRA interacting protein 3provided by HGNC Primary source HGNC:HGNC:4917 See related Ensembl:ENSG00000149929 MIM:603365; AllianceGenome:HGNC:4917 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 The HIRA protein shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone gene transcription characterized in the yeast, Saccharomyces cerevisiae. The structural features of the HIRA protein suggest that it may function as part of a multiprotein complex. Several cDNAs encoding HIRA-interacting proteins, or HIRIPs, have been identified. In vitro, the protein encoded by this gene binds HIRA, as well as H2B and H3 core histones, indicating that a complex containing HIRA-HIRIP3 could function in some aspects of chromatin and histone metabolism. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Aug 2011] Expression Broad expression in testis (RPKM 18.6), brain (RPKM 7.1) and 24 other tissues See more Orthologs mouse all
HIVEP1, Official Symbol HIVEP1provided by HGNC Official Full Name HIVEP zinc finger 1provided by HGNC Primary source HGNC:HGNC:4920 See related Ensembl:ENSG00000095951 MIM:194540; AllianceGenome:HGNC:4920 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 GAAP; ZAS1; CIRIP; MBP-1; ZNF40; CRYBP1; ZNF40A; PRDII-BF1; Schnurri-1 Summary This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in gall bladder (RPKM 3.0), appendix (RPKM 2.9) and 25 other tissues See more Orthologs mouse all
HIVEP2, Official Symbol HIVEP2provided by HGNC Official Full Name HIVEP zinc finger 2provided by HGNC Primary source HGNC:HGNC:4921 See related Ensembl:ENSG00000010818 MIM:143054; AllianceGenome:HGNC:4921 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 SHN2; ZAS2; MBP-2; MIBP1; MRD43; ZNF40B; HIV-EP2 Summary This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in brain (RPKM 14.4), ovary (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
HIVEP3, Official Symbol HIVEP3provided by HGNC Official Full Name HIVEP zinc finger 3provided by HGNC Primary source HGNC:HGNC:13561 See related Ensembl:ENSG00000127124 MIM:606649; AllianceGenome:HGNC:13561 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 KRC; KBP1; SHN3; ZAS3; KBP-1; ZNF40C; Schnurri-3 Summary This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in skin (RPKM 2.3), brain (RPKM 1.1) and 24 other tissues See more Orthologs mouse all
HJURP, Official Symbol HJURPprovided by HGNC Official Full Name Holliday junction recognition proteinprovided by HGNC Primary source HGNC:HGNC:25444 See related Ensembl:ENSG00000123485 MIM:612667; AllianceGenome:HGNC:25444 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 FAKTS; URLC9; hFLEG1 Summary Enables histone binding activity and identical protein binding activity. Involved in several processes, including CENP-A containing chromatin assembly; regulation of DNA binding activity; and regulation of protein-containing complex assembly. Located in kinetochore; mitochondrion; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 15.6), testis (RPKM 7.0) and 11 other tissues See more Orthologs mouse all
HJV, Official Symbol HJVprovided by HGNC Official Full Name hemojuvelin BMP co-receptorprovided by HGNC Primary source HGNC:HGNC:4887 See related Ensembl:ENSG00000168509 MIM:608374; AllianceGenome:HGNC:4887 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 JH; HFE2; RGMC; HFE2A Summary The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015] Expression Biased expression in liver (RPKM 40.4), heart (RPKM 17.1) and 2 other tissues See more Orthologs mouse all
HK1, Official Symbol HK1provided by HGNC Official Full Name hexokinase 1provided by HGNC Primary source HGNC:HGNC:4922 See related Ensembl:ENSG00000156515 MIM:142600; AllianceGenome:HGNC:4922 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 HK; HKD; HKI; HXK1; NMSR; RP79; HMSNR; HK1-ta; HK1-tb; HK1-tc; NEDVIBA; hexokinase Summary Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in heart (RPKM 41.2), esophagus (RPKM 41.1) and 24 other tissues See more Orthologs mouse all
HK2, Official Symbol HK2provided by HGNC Official Full Name hexokinase 2provided by HGNC Primary source HGNC:HGNC:4923 See related Ensembl:ENSG00000159399 MIM:601125; AllianceGenome:HGNC:4923 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 HKII; HXK2 Summary Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009] Expression Broad expression in fat (RPKM 34.4), colon (RPKM 24.2) and 19 other tissues See more Orthologs mouse all
HK2-DT, Official Symbol HK2-DTprovided by HGNC Official Full Name HK2 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55204 Gene type ncRNA RefSeq status VALIDATED 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
HK2P1, Official Symbol HK2P1provided by HGNC Official Full Name hexokinase 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:4924 See related AllianceGenome:HGNC:4924 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 HK2P
HK3, Official Symbol HK3provided by HGNC Official Full Name hexokinase 3provided by HGNC Primary source HGNC:HGNC:4925 See related Ensembl:ENSG00000160883 MIM:142570; AllianceGenome:HGNC:4925 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 HXK3; HKIII Summary Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009] Expression Biased expression in bone marrow (RPKM 50.3), spleen (RPKM 14.0) and 3 other tissues See more Orthologs mouse all
HKDC1, Official Symbol HKDC1provided by HGNC Official Full Name hexokinase domain containing 1provided by HGNC Primary source HGNC:HGNC:23302 See related Ensembl:ENSG00000156510 MIM:617221; AllianceGenome:HGNC:23302 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 RP92 Summary This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High expression of this gene may also be associated with poor prognosis in hepatocarcinoma. [provided by RefSeq, Sep 2016] Expression Biased expression in duodenum (RPKM 22.5), small intestine (RPKM 21.3) and 6 other tissues See more Orthologs mouse all
HLA-A, Official Symbol HLA-Aprovided by HGNC Official Full Name major histocompatibility complex, class I, Aprovided by HGNC Primary source HGNC:HGNC:4931 See related Ensembl:ENSG00000206503 MIM:142800; AllianceGenome:HGNC:4931 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 HLAA Summary HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in colon (RPKM 288.9), lung (RPKM 280.7) and 25 other tissues See more
HLA-B, Official Symbol HLA-Bprovided by HGNC Official Full Name major histocompatibility complex, class I, Bprovided by HGNC Primary source HGNC:HGNC:4932 See related Ensembl:ENSG00000234745 MIM:142830; AllianceGenome:HGNC:4932 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 AS; HLAB; B-4901 Summary HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 583.7), lung (RPKM 569.7) and 24 other tissues See more Orthologs all
HLA-C, Official Symbol HLA-Cprovided by HGNC Official Full Name major histocompatibility complex, class I, Cprovided by HGNC Primary source HGNC:HGNC:4933 See related Ensembl:ENSG00000204525 MIM:142840; AllianceGenome:HGNC:4933 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 MHC; HLAC; HLC-C; D6S204; PSORS1; HLA-JY3 Summary HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. About 6000 HLA-C alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020] 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 lung (RPKM 536.7), bone marrow (RPKM 302.4) and 22 other tissues See more Orthologs all
HLA-DMA, Official Symbol HLA-DMAprovided by HGNC Official Full Name major histocompatibility complex, class II, DM alphaprovided by HGNC Primary source HGNC:HGNC:4934 See related Ensembl:ENSG00000204257 MIM:142855; AllianceGenome:HGNC:4934 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 DMA; HLADM; RING6; D6S222E Summary HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 124.3), lung (RPKM 102.4) and 24 other tissues See more Orthologs mouse all
HLA-DMB, Official Symbol HLA-DMBprovided by HGNC Official Full Name major histocompatibility complex, class II, DM betaprovided by HGNC Primary source HGNC:HGNC:4935 See related Ensembl:ENSG00000242574 MIM:142856; AllianceGenome:HGNC:4935 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 RING7; D6S221E Summary HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 104.0), spleen (RPKM 76.5) and 24 other tissues See more Orthologs mouse all
HLA-DOA, Official Symbol HLA-DOAprovided by HGNC Official Full Name major histocompatibility complex, class II, DO alphaprovided by HGNC Primary source HGNC:HGNC:4936 See related Ensembl:ENSG00000204252 MIM:142930; AllianceGenome:HGNC:4936 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 HLADZ; HLA-DNA; HLA-DZA Summary HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 26.6), spleen (RPKM 26.2) and 20 other tissues See more Orthologs mouse all