psui3905/ncbi_genes_summary huggingface dataset:
GULP1, Official Symbol GULP1provided by HGNC Official Full Name GULP PTB domain containing engulfment adaptor 1provided by HGNC Primary source HGNC:HGNC:18649 See related Ensembl:ENSG00000144366 MIM:608165; AllianceGenome:HGNC:18649 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 CED6; GULP; CED-6 Summary The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011] Expression Broad expression in endometrium (RPKM 8.3), prostate (RPKM 7.5) and 22 other tissues See more Orthologs mouse all
GUSB, Official Symbol GUSBprovided by HGNC Official Full Name glucuronidase betaprovided by HGNC Primary source HGNC:HGNC:4696 See related Ensembl:ENSG00000169919 MIM:611499; AllianceGenome:HGNC:4696 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 BG; MPS7 Summary This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014] Expression Ubiquitous expression in bone marrow (RPKM 37.4), placenta (RPKM 30.1) and 25 other tissues See more Orthologs mouse all
GUSBP11, Official Symbol GUSBP11provided by HGNC Official Full Name GUSB pseudogene 11provided by HGNC Primary source HGNC:HGNC:42325 See related Ensembl:ENSG00000228315 AllianceGenome:HGNC:42325 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This transcribed pseudogene is similar to two functional genes. The 5' portion of the pseudogene is related to glucuronidase, beta, and the 3' portion is related to immunoglobulin lambda-like polypeptide 1. [provided by RefSeq, Jul 2011] Expression Ubiquitous expression in bone marrow (RPKM 14.2), spleen (RPKM 9.8) and 25 other tissues See more
GUSBP12, Official Symbol GUSBP12provided by HGNC Official Full Name GUSB pseudogene 12provided by HGNC Primary source HGNC:HGNC:42326 See related Ensembl:ENSG00000169325 AllianceGenome:HGNC:42326 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GUSBP5, Official Symbol GUSBP5provided by HGNC Official Full Name GUSB pseudogene 5provided by HGNC Primary source HGNC:HGNC:42319 See related Ensembl:ENSG00000236296 AllianceGenome:HGNC:42319 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GYPELOC441046
GUSBP7, Official Symbol GUSBP7provided by HGNC Official Full Name GUSB pseudogene 7provided by HGNC Primary source HGNC:HGNC:42321 See related AllianceGenome:HGNC:42321 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GUSBP9, Official Symbol GUSBP9provided by HGNC Official Full Name GUSB pseudogene 9provided by HGNC Primary source HGNC:HGNC:42323 See related Ensembl:ENSG00000215630 AllianceGenome:HGNC:42323 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GVINP1, Official Symbol GVINP1provided by HGNC Official Full Name GTPase, very large interferon inducible pseudogene 1provided by HGNC Primary source HGNC:HGNC:25813 See related Ensembl:ENSG00000254838 MIM:616121; AllianceGenome:HGNC:25813 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GVIN1; VLIG1; GVIN1P; VLIG-1 Summary Predicted to enable GTP binding activity. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
GVINP2, Official Symbol GVINP2provided by HGNC Official Full Name GTPase, very large interferon inducible pseudogene 2provided by HGNC Primary source HGNC:HGNC:38876 See related Ensembl:ENSG00000254781 AllianceGenome:HGNC:38876 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GVQW3, Official Symbol GVQW3provided by HGNC Official Full Name GVQW motif containing 3provided by HGNC Primary source HGNC:HGNC:51239 See related Ensembl:ENSG00000179240 AllianceGenome:HGNC:51239 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 Expression Low expression observed in reference dataset See more Orthologs mouse all
GXYLT1, Official Symbol GXYLT1provided by HGNC Official Full Name glucoside xylosyltransferase 1provided by HGNC Primary source HGNC:HGNC:27482 See related Ensembl:ENSG00000151233 MIM:613321; AllianceGenome:HGNC:27482 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 GLT8D3 Summary GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010] Expression Ubiquitous expression in placenta (RPKM 5.6), thyroid (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
GXYLT1P1, Official Symbol GXYLT1P1provided by HGNC Official Full Name GXYLT1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39676 See related AllianceGenome:HGNC:39676 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GXYLT1P2, Official Symbol GXYLT1P2provided by HGNC Official Full Name GXYLT1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39677 See related AllianceGenome:HGNC:39677 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GXYLT1P4, Official Symbol GXYLT1P4provided by HGNC Official Full Name GXYLT1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:50423 See related Ensembl:ENSG00000275026 AllianceGenome:HGNC:50423 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GXYLT1P5, Official Symbol GXYLT1P5provided by HGNC Official Full Name GXYLT1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:50424 See related Ensembl:ENSG00000276128 AllianceGenome:HGNC:50424 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GXYLT1P6, Official Symbol GXYLT1P6provided by HGNC Official Full Name GXYLT1 pseudogene 6provided by HGNC Primary source HGNC:HGNC:50425 See related Ensembl:ENSG00000235310 AllianceGenome:HGNC:50425 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GXYLT1P7, Official Symbol GXYLT1P7provided by HGNC Official Full Name GXYLT1 pseudogene 7provided by HGNC Primary source HGNC:HGNC:54735 See related Ensembl:ENSG00000227265 AllianceGenome:HGNC:54735 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GXYLT2, Official Symbol GXYLT2provided by HGNC Official Full Name glucoside xylosyltransferase 2provided by HGNC Primary source HGNC:HGNC:33383 See related Ensembl:ENSG00000172986 MIM:613322; AllianceGenome:HGNC:33383 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 GLT8D4 Summary The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016] Expression Broad expression in ovary (RPKM 6.1), gall bladder (RPKM 5.3) and 22 other tissues See more Orthologs mouse all
GYG1, Official Symbol GYG1provided by HGNC Official Full Name glycogenin 1provided by HGNC Primary source HGNC:HGNC:4699 See related Ensembl:ENSG00000163754 MIM:603942; AllianceGenome:HGNC:4699 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 GYG; GSD15 Summary This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] Expression Broad expression in bone marrow (RPKM 53.8), testis (RPKM 49.1) and 25 other tissues See more Orthologs mouse all
GYG1P1, Official Symbol GYG1P1provided by HGNC Official Full Name glycogenin 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39712 See related Ensembl:ENSG00000251633 AllianceGenome:HGNC:39712 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GYG1P3, Official Symbol GYG1P3provided by HGNC Official Full Name glycogenin 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:39711 See related AllianceGenome:HGNC:39711 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GYG2, Official Symbol GYG2provided by HGNC Official Full Name glycogenin 2provided by HGNC Primary source HGNC:HGNC:4700 See related Ensembl:ENSG00000056998 MIM:300198; AllianceGenome:HGNC:4700 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 GN2; GN-2 Summary This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y, which is 3' truncated and can not make a functional protein. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010] Expression Biased expression in fat (RPKM 111.6) and liver (RPKM 4.8) See more Orthologs all
GYG2-AS1, Official Symbol GYG2-AS1provided by HGNC Official Full Name GYG2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40270 See related AllianceGenome:HGNC:40270 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
GYPA, Official Symbol GYPAprovided by HGNC Official Full Name glycophorin A (MNS blood group)provided by HGNC Primary source HGNC:HGNC:4702 See related Ensembl:ENSG00000170180 MIM:617922; AllianceGenome:HGNC:4702 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 MN; GPA; MNS; GPSAT; PAS-2; CD235a; GPErik; HGpMiV; HGpMiXI; HGpSta(C) Summary Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008] Expression Restricted expression toward bone marrow (RPKM 31.9) See more Orthologs all
GYPB, Official Symbol GYPBprovided by HGNC Official Full Name glycophorin B (MNS blood group)provided by HGNC Primary source HGNC:HGNC:4703 See related Ensembl:ENSG00000250361 MIM:617923; AllianceGenome:HGNC:4703 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 SS; GPB; GYP; MNS; GYPA; PAS-3; CD235b Summary Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Expression Restricted expression toward bone marrow (RPKM 2.7) See more Orthologs all
GYPC, Official Symbol GYPCprovided by HGNC Official Full Name glycophorin C (Gerbich blood group)provided by HGNC Primary source HGNC:HGNC:4704 See related Ensembl:ENSG00000136732 MIM:110750; AllianceGenome:HGNC:4704 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 GE; GPC; GPD; GYPD; CD236; PAS-2; CD236R; PAS-2' Summary Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Expression Broad expression in bone marrow (RPKM 63.1), fat (RPKM 47.2) and 17 other tissues See more Orthologs mouse all
GYPE, Official Symbol GYPEprovided by HGNC Official Full Name glycophorin E (MNS blood group)provided by HGNC Primary source HGNC:HGNC:4705 See related Ensembl:ENSG00000197465 MIM:138590; AllianceGenome:HGNC:4705 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 GPE; MNS; GYPA; MiIX Summary The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 2.0), lung (RPKM 1.5) and 25 other tissues See more Orthologs all
GYS1, Official Symbol GYS1provided by HGNC Official Full Name glycogen synthase 1provided by HGNC Primary source HGNC:HGNC:4706 See related Ensembl:ENSG00000104812 MIM:138570; AllianceGenome:HGNC:4706 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 GSY; GYS Summary The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] Expression Ubiquitous expression in heart (RPKM 40.6), fat (RPKM 17.3) and 23 other tissues See more Orthologs mouse all
GYS2, Official Symbol GYS2provided by HGNC Official Full Name glycogen synthase 2provided by HGNC Primary source HGNC:HGNC:4707 See related Ensembl:ENSG00000111713 MIM:138571; AllianceGenome:HGNC:4707 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 protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009] Expression Restricted expression toward liver (RPKM 35.4) See more Orthologs mouse all
GZF1, Official Symbol GZF1provided by HGNC Official Full Name GDNF inducible zinc finger protein 1provided by HGNC Primary source HGNC:HGNC:15808 See related Ensembl:ENSG00000125812 MIM:613842; AllianceGenome:HGNC:15808 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 JLSM; ZBTB23; ZNF336 Summary Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 10.9), bone marrow (RPKM 10.5) and 25 other tissues See more Orthologs mouse all
GZMA, Official Symbol GZMAprovided by HGNC Official Full Name granzyme Aprovided by HGNC Primary source HGNC:HGNC:4708 See related Ensembl:ENSG00000145649 MIM:140050; AllianceGenome:HGNC:4708 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 HFSP; CTLA3 Summary Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 24.9), spleen (RPKM 21.4) and 20 other tissues See more Orthologs mouse all
GZMAP1, Official Symbol GZMAP1provided by HGNC Official Full Name granzyme A pseudogene 1provided by HGNC Primary source HGNC:HGNC:44137 See related Ensembl:ENSG00000249454 AllianceGenome:HGNC:44137 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GZMB, Official Symbol GZMBprovided by HGNC Official Full Name granzyme Bprovided by HGNC Primary source HGNC:HGNC:4709 See related Ensembl:ENSG00000100453 MIM:123910; AllianceGenome:HGNC:4709 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 C11; HLP; CCPI; CGL1; CSPB; SECT; CGL-1; CSP-B; CTLA1; CTSGL1 Summary This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016] Expression Biased expression in bone marrow (RPKM 19.1), lymph node (RPKM 15.2) and 13 other tissues See more Orthologs mouse all
GZMH, Official Symbol GZMHprovided by HGNC Official Full Name granzyme Hprovided by HGNC Primary source HGNC:HGNC:4710 See related Ensembl:ENSG00000100450 MIM:116831; AllianceGenome:HGNC:4710 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 CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2 Summary This gene encodes a member of the peptidase S1 family of serine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a chymotrypsin-like protease. This protein is reported to be constitutively expressed in the NK (natural killer) cells of the immune system and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. This gene is present in a gene cluster with another member of the granzyme subfamily on chromosome 14. [provided by RefSeq, Nov 2015] Expression Broad expression in spleen (RPKM 9.5), bone marrow (RPKM 8.3) and 21 other tissues See more Orthologs mouse all
GZMK, Official Symbol GZMKprovided by HGNC Official Full Name granzyme Kprovided by HGNC Primary source HGNC:HGNC:4711 See related Ensembl:ENSG00000113088 MIM:600784; AllianceGenome:HGNC:4711 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 TRYP2 Summary This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 65.9), spleen (RPKM 22.6) and 7 other tissues See more Orthologs mouse all
GZMM, Official Symbol GZMMprovided by HGNC Official Full Name granzyme Mprovided by HGNC Primary source HGNC:HGNC:4712 See related Ensembl:ENSG00000197540 MIM:600311; AllianceGenome:HGNC:4712 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 MET1; LMET1 Summary Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases together with proteoglycans and other immune effector molecules in large cytoplasmic granules. These serine proteases are collectively termed granzymes and include 4 distinct gene products: granzyme A, granzyme B, granzyme H, and the protein encoded by this gene, granzyme M. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Biased expression in spleen (RPKM 8.2), lymph node (RPKM 6.5) and 13 other tissues See more Orthologs mouse all
H1-0, Official Symbol H1-0provided by HGNC Official Full Name H1.0 linker histoneprovided by HGNC Primary source HGNC:HGNC:4714 See related Ensembl:ENSG00000189060 MIM:142708; AllianceGenome:HGNC:4714 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 H10; H1.0; H1F0; H1FV Summary Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-independent histone that is a member of the histone H1 family. [provided by RefSeq, Oct 2015] Orthologs mouse all
H1-1, Official Symbol H1-1provided by HGNC Official Full Name H1.1 linker histone, cluster memberprovided by HGNC Primary source HGNC:HGNC:4715 See related Ensembl:ENSG00000124610 MIM:142709; AllianceGenome:HGNC:4715 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 H1A; H1.1; H1F1; HIST1; HIST1H1A Summary Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015] Orthologs mouse all
H1-10, Official Symbol H1-10provided by HGNC Official Full Name H1.10 linker histoneprovided by HGNC Primary source HGNC:HGNC:4722 See related Ensembl:ENSG00000184897 MIM:602785; AllianceGenome:HGNC:4722 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 H1X; H1FX; H1.10 Summary Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H1 family. [provided by RefSeq, Oct 2015] Orthologs mouse all
H1-12P, Official Symbol H1-12Pprovided by HGNC Official Full Name H1.12 linker histone, cluster member, pseudogeneprovided by HGNC Primary source HGNC:HGNC:19163 See related AllianceGenome:HGNC:19163 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 H1F6P; HIST1H1PS1; dJ34B20.16 Summary Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This histone pseudogene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Oct 2015]
H1-2, Official Symbol H1-2provided by HGNC Official Full Name H1.2 linker histone, cluster memberprovided by HGNC Primary source HGNC:HGNC:4716 See related Ensembl:ENSG00000187837 MIM:142710; AllianceGenome:HGNC:4716 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 H1C; H1.2; H1F2; H1s-1; HIST1H1C Summary Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015] Orthologs mouse all
H1-3, Official Symbol H1-3provided by HGNC Official Full Name H1.3 linker histone, cluster memberprovided by HGNC Primary source HGNC:HGNC:4717 See related Ensembl:ENSG00000124575 MIM:142210; AllianceGenome:HGNC:4717 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 H1D; H1.3; H1F3; H1s-2; HIST1H1D Summary Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015] Orthologs all
H1-4, Official Symbol H1-4provided by HGNC Official Full Name H1.4 linker histone, cluster memberprovided by HGNC Primary source HGNC:HGNC:4718 See related Ensembl:ENSG00000168298 MIM:142220; AllianceGenome:HGNC:4718 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 H1E; H1.4; H1F4; RMNS; H1s-4; HIST1H1E; dJ221C16.5 Summary Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015] Orthologs mouse all
H1-5, Official Symbol H1-5provided by HGNC Official Full Name H1.5 linker histone, cluster memberprovided by HGNC Primary source HGNC:HGNC:4719 See related Ensembl:ENSG00000184357 MIM:142711; AllianceGenome:HGNC:4719 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 H1; H1B; H1.5; H1F5; H1s-3; HIST1H1B Summary Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015] Orthologs mouse all
H1-6, Official Symbol H1-6provided by HGNC Official Full Name H1.6 linker histone, cluster memberprovided by HGNC Primary source HGNC:HGNC:4720 See related Ensembl:ENSG00000187475 MIM:142712; AllianceGenome:HGNC:4720 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 H1t; H1.6; H1FT; HIST1H1T; dJ221C16.2 Summary Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015] Orthologs mouse all
H1-7, Official Symbol H1-7provided by HGNC Official Full Name H1.7 linker histoneprovided by HGNC Primary source HGNC:HGNC:24893 See related Ensembl:ENSG00000187166 MIM:618565; AllianceGenome:HGNC:24893 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 H1.7; H1T2; H1FNT Summary Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-independent histone that is a member of the histone H1 family. The related mouse gene encodes a testis specific protein that is required for spermatogenesis and male fertility. [provided by RefSeq, Oct 2015] Orthologs mouse all
H1-8, Official Symbol H1-8provided by HGNC Official Full Name H1.8 linker histoneprovided by HGNC Primary source HGNC:HGNC:18463 See related Ensembl:ENSG00000178804 AllianceGenome:HGNC:18463 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 H1.8; H1oo; osH1; H1FOO Summary Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. The protein encoded is a replication-independent histone that is a member of the histone H1 family. This gene contains introns, unlike most histone genes. The related mouse gene is expressed only in oocytes. [provided by RefSeq, Oct 2015] Expression Low expression observed in reference dataset See more Orthologs mouse all
H19, Official Symbol H19provided by HGNC Official Full Name H19 imprinted maternally expressed transcriptprovided by HGNC Primary source HGNC:HGNC:4713 See related Ensembl:ENSG00000130600 MIM:103280; AllianceGenome:HGNC:4713 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ASM; BWS; WT2; ASM1; D11S813E; MIR675HG; LINC00008; NCRNA00008 Summary This gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. This gene is only expressed from the maternally-inherited chromosome, whereas IGF2 is only expressed from the paternally-inherited chromosome. The product of this gene is a long non-coding RNA which functions as a tumor suppressor. Mutations in this gene have been associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Biased expression in placenta (RPKM 2773.7), adrenal (RPKM 234.1) and 2 other tissues See more Orthologs mouse all
H2AB1, Official Symbol H2AB1provided by HGNC Official Full Name H2A.B variant histone 1provided by HGNC Primary source HGNC:HGNC:22516 See related Ensembl:ENSG00000274183 MIM:301037; AllianceGenome:HGNC:22516 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 H2A.B; H2AFB1; H2A.B.2; H2A.Bbd Summary Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most centromeric copy which is in intron 22 of the F8 gene. [provided by RefSeq, Oct 2015] Orthologs all
H2AB2, Official Symbol H2AB2provided by HGNC Official Full Name H2A.B variant histone 2provided by HGNC Primary source HGNC:HGNC:18298 See related Ensembl:ENSG00000277858 MIM:301038; AllianceGenome:HGNC:18298 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 H2AB3; H2AFB2; H2A.B.1; H2A.Bbd Summary Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. [provided by RefSeq, Oct 2015] Orthologs all
H2AB3, Official Symbol H2AB3provided by HGNC Official Full Name H2A.B variant histone 3provided by HGNC Primary source HGNC:HGNC:14455 See related Ensembl:ENSG00000277745 MIM:300445; AllianceGenome:HGNC:14455 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 H2AB2; H2AFB; H2ABBD; H2AFB3; H2A.B.1 Summary Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. [provided by RefSeq, Oct 2015] Orthologs all
H2AC1, Official Symbol H2AC1provided by HGNC Official Full Name H2A clustered histone 1provided by HGNC Primary source HGNC:HGNC:18729 See related Ensembl:ENSG00000164508 MIM:613499; AllianceGenome:HGNC:18729 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 H2AA; TH2A; H2AFR; HISTH2AA; HIST1H2AA; bA317E16.2 Summary Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015] Orthologs mouse all
H2AC10P, Official Symbol H2AC10Pprovided by HGNC Official Full Name H2A clustered histone 10, pseudogeneprovided by HGNC Primary source HGNC:HGNC:4732 See related Ensembl:ENSG00000218690 AllianceGenome:HGNC:4732 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 H2A/k; H2AFK; H2AFKP; pH2A/k; dJ34B20.2; HIST1H2APS4 Summary Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This histone pseudogene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Oct 2015]