psui3905/ncbi_genes_summary huggingface dataset:
HLA-DOB, Official Symbol HLA-DOBprovided by HGNC Official Full Name major histocompatibility complex, class II, DO betaprovided by HGNC Primary source HGNC:HGNC:4937 See related Ensembl:ENSG00000241106 MIM:600629; AllianceGenome:HGNC:4937 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 DOB; HLA_DOB Summary HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. 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 Biased expression in lymph node (RPKM 34.2), spleen (RPKM 22.4) and 9 other tissues See more Orthologs mouse all
HLA-DPA1, Official Symbol HLA-DPA1provided by HGNC Official Full Name major histocompatibility complex, class II, DP alpha 1provided by HGNC Primary source HGNC:HGNC:4938 See related Ensembl:ENSG00000231389 MIM:142880; AllianceGenome:HGNC:4938 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 DPA1; PLT1; HLADP; HLASB; DP(W3); DP(W4); HLA-DPA; HLA-DP1A; HLA-DPB1 Summary HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. 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. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 361.8), spleen (RPKM 361.5) and 24 other tissues See more Orthologs all
HLA-DPA2, Official Symbol HLA-DPA2provided by HGNC Official Full Name major histocompatibility complex, class II, DP alpha 2 (pseudogene)provided by HGNC Primary source HGNC:HGNC:4939 See related AllianceGenome:HGNC:4939 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 HLA-DP2A
HLA-DPA3, Official Symbol HLA-DPA3provided by HGNC Official Full Name major histocompatibility complex, class II, DP alpha 3 (pseudogene)provided by HGNC Primary source HGNC:HGNC:19393 See related AllianceGenome:HGNC:19393 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 dJ1033B10.14
HLA-DPB1, Official Symbol HLA-DPB1provided by HGNC Official Full Name major histocompatibility complex, class II, DP beta 1provided by HGNC Primary source HGNC:HGNC:4940 See related Ensembl:ENSG00000223865 MIM:142858; AllianceGenome:HGNC:4940 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 DPB1; HLA-DP; HLA-DPB; HLA-DP1B Summary HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. 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. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 88.0), lymph node (RPKM 85.6) and 22 other tissues See more Orthologs all
HLA-DPB2, Official Symbol HLA-DPB2provided by HGNC Official Full Name major histocompatibility complex, class II, DP beta 2 (pseudogene)provided by HGNC Primary source HGNC:HGNC:4941 See related Ensembl:ENSG00000224557 AllianceGenome:HGNC:4941 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 DP2B; DPB2; DPbeta2; HLA-DP2B Expression Biased expression in lymph node (RPKM 1.2), spleen (RPKM 1.0) and 10 other tissues See more
HLA-DQA1, Official Symbol HLA-DQA1provided by HGNC Official Full Name major histocompatibility complex, class II, DQ alpha 1provided by HGNC Primary source HGNC:HGNC:4942 See related Ensembl:ENSG00000196735 MIM:146880; AllianceGenome:HGNC:4942 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 DQA1; DQ-A1; CELIAC1; HLA-DQA; HLA-DQB1; HLA-DQA1* Summary HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 134.8), lymph node (RPKM 101.5) and 18 other tissues See more Orthologs mouse all
HLA-DQA2, Official Symbol HLA-DQA2provided by HGNC Official Full Name major histocompatibility complex, class II, DQ alpha 2provided by HGNC Primary source HGNC:HGNC:4943 See related Ensembl:ENSG00000237541 MIM:613503; AllianceGenome:HGNC:4943 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 DQA1; HLA-DCA; HLA-DXA; HLADQA2; DC-alpha; DX-ALPHA Summary This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and 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 (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010] Expression Broad expression in lymph node (RPKM 32.9), spleen (RPKM 26.8) and 20 other tissues See more Orthologs all
HLA-DQB1, Official Symbol HLA-DQB1provided by HGNC Official Full Name major histocompatibility complex, class II, DQ beta 1provided by HGNC Primary source HGNC:HGNC:4944 See related Ensembl:ENSG00000179344 MIM:604305; AllianceGenome:HGNC:4944 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 IDDM1; CELIAC1; HLA-DQB Summary HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 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. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] Expression Broad expression in lung (RPKM 158.2), lymph node (RPKM 135.4) and 19 other tissues See more Orthologs all
HLA-DQB1-AS1, Official Symbol HLA-DQB1-AS1provided by HGNC Official Full Name HLA-DQB1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39762 See related Ensembl:ENSG00000223534 AllianceGenome:HGNC:39762 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in lung (RPKM 47.9), lymph node (RPKM 47.0) and 20 other tissues See more
HLA-DQB2, Official Symbol HLA-DQB2provided by HGNC Official Full Name major histocompatibility complex, class II, DQ beta 2provided by HGNC Primary source HGNC:HGNC:4945 See related Ensembl:ENSG00000232629 MIM:615161; AllianceGenome:HGNC:4945 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 DQB2; HLA-DXB; HLA-DQB1 Summary HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. [provided by RefSeq, Oct 2010] Expression Biased expression in skin (RPKM 22.8), lung (RPKM 10.9) and 4 other tissues See more Orthologs all
HLA-DRA, Official Symbol HLA-DRAprovided by HGNC Official Full Name major histocompatibility complex, class II, DR alphaprovided by HGNC Primary source HGNC:HGNC:4947 See related Ensembl:ENSG00000204287 MIM:142860; AllianceGenome:HGNC:4947 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 HLA-DRA1 Summary HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. This molecule is expressed on the surface of various antigen presenting cells such as B lymphocytes, dendritic cells, and monocytes/macrophages, and plays a central role in the immune system and response by presenting peptides derived from extracellular proteins, in particular, pathogen-derived peptides to T cells. The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Aug 2020] Expression Broad expression in lymph node (RPKM 921.6), lung (RPKM 809.6) and 24 other tissues See more Orthologs all
HLA-DRB1, Official Symbol HLA-DRB1provided by HGNC Official Full Name major histocompatibility complex, class II, DR beta 1provided by HGNC Primary source HGNC:HGNC:4948 See related Ensembl:ENSG00000196126 MIM:142857; AllianceGenome:HGNC:4948 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 SS1; DRB1; HLA-DRB; HLA-DR1B Summary HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 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. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Orthologs all
HLA-DRB5, Official Symbol HLA-DRB5provided by HGNC Official Full Name major histocompatibility complex, class II, DR beta 5provided by HGNC Primary source HGNC:HGNC:4953 See related Ensembl:ENSG00000198502 MIM:604776; AllianceGenome:HGNC:4953 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 DRB5; HLA-DRB5* Summary HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. 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. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020] Expression Broad expression in lung (RPKM 275.5), lymph node (RPKM 163.3) and 14 other tissues See more Orthologs all
HLA-DRB6, Official Symbol HLA-DRB6provided by HGNC Official Full Name major histocompatibility complex, class II, DR beta 6 (pseudogene)provided by HGNC Primary source HGNC:HGNC:4954 See related Ensembl:ENSG00000290878 AllianceGenome:HGNC:4954 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HLA-E, Official Symbol HLA-Eprovided by HGNC Official Full Name major histocompatibility complex, class I, Eprovided by HGNC Primary source HGNC:HGNC:4962 See related Ensembl:ENSG00000204592 MIM:143010; AllianceGenome:HGNC:4962 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 QA1; HLA-6.2 Summary HLA-E 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. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. 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 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. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 452.2), lung (RPKM 398.4) and 24 other tissues See more Orthologs all
HLA-F, Official Symbol HLA-Fprovided by HGNC Official Full Name major histocompatibility complex, class I, Fprovided by HGNC Primary source HGNC:HGNC:4963 See related Ensembl:ENSG00000204642 MIM:143110; AllianceGenome:HGNC:4963 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 HLAF; CDA12; HLA-5.4; HLA-CDA12 Summary This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic reticulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 31.0), lymph node (RPKM 20.6) and 24 other tissues See more Orthologs all
HLA-F-AS1, Official Symbol HLA-F-AS1provided by HGNC Official Full Name HLA-F antisense RNA 1provided by HGNC Primary source HGNC:HGNC:26645 See related Ensembl:ENSG00000214922 AllianceGenome:HGNC:26645 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 Ubiquitous expression in spleen (RPKM 3.0), lymph node (RPKM 2.6) and 24 other tissues See more
HLA-G, Official Symbol HLA-Gprovided by HGNC Official Full Name major histocompatibility complex, class I, Gprovided by HGNC Primary source HGNC:HGNC:4964 See related Ensembl:ENSG00000204632 MIM:142871; AllianceGenome:HGNC:4964 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-G Summary HLA-G 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. HLA-G is expressed on fetal derived placental 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 exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 29.5), colon (RPKM 14.0) and 15 other tissues See more Orthologs all
HLA-K, Official Symbol HLA-Kprovided by HGNC Official Full Name major histocompatibility complex, class I, K (pseudogene)provided by HGNC Primary source HGNC:HGNC:4969 See related Ensembl:ENSG00000230795 AllianceGenome:HGNC:4969 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 HLAK; HLA70; HLA-70
HLA-W, Official Symbol HLA-Wprovided by HGNC Official Full Name major histocompatibility complex, class I, W (pseudogene)provided by HGNC Primary source HGNC:HGNC:23425 See related AllianceGenome:HGNC:23425 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 HLA-80
HLCS, Official Symbol HLCSprovided by HGNC Official Full Name holocarboxylase synthetaseprovided by HGNC Primary source HGNC:HGNC:4976 See related Ensembl:ENSG00000159267 MIM:609018; AllianceGenome:HGNC:4976 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 HCS Summary This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011] Expression Ubiquitous expression in thyroid (RPKM 4.3), prostate (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
HLCS-IT1, Official Symbol HLCS-IT1provided by HGNC Official Full Name HLCS intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41343 See related AllianceGenome:HGNC:41343 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as bde1 Annotation information not in current annotation release
HLF, Official Symbol HLFprovided by HGNC Official Full Name HLF transcription factor, PAR bZIP family memberprovided by HGNC Primary source HGNC:HGNC:4977 See related Ensembl:ENSG00000108924 MIM:142385; AllianceGenome:HGNC:4977 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 proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 22.6), brain (RPKM 22.4) and 18 other tissues See more Orthologs mouse all
HLFP1, Official Symbol HLFP1provided by HGNC Official Full Name HLF pseudogene 1provided by HGNC Primary source HGNC:HGNC:41922 See related Ensembl:ENSG00000218194 AllianceGenome:HGNC:41922 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HLTF, Official Symbol HLTFprovided by HGNC Official Full Name helicase like transcription factorprovided by HGNC Primary source HGNC:HGNC:11099 See related Ensembl:ENSG00000071794 MIM:603257; AllianceGenome:HGNC:11099 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 ZBU1; HLTF1; RNF80; HIP116; SNF2L3; HIP116A; SMARCA3 Summary This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 29.4), adrenal (RPKM 14.1) and 25 other tissues See more Orthologs mouse all
HLTF-AS1, Official Symbol HLTF-AS1provided by HGNC Official Full Name HLTF antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40554 See related Ensembl:ENSG00000239718 AllianceGenome:HGNC:40554 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in testis (RPKM 6.9), adrenal (RPKM 2.9) and 24 other tissues See more
HLX, Official Symbol HLXprovided by HGNC Official Full Name H2.0 like homeoboxprovided by HGNC Primary source HGNC:HGNC:4978 See related Ensembl:ENSG00000136630 MIM:142995; AllianceGenome:HGNC:4978 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 HB24; HLX1 Summary Enables sequence-specific DNA binding activity. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including animal organ development; enteric nervous system development; and regulation of T-helper cell differentiation. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 18.6), fat (RPKM 10.7) and 19 other tissues See more Orthologs mouse all
HLX-AS1, Official Symbol HLX-AS1provided by HGNC Official Full Name HLX antisense RNA 1provided by HGNC Primary source HGNC:HGNC:42509 See related Ensembl:ENSG00000257551 AllianceGenome:HGNC:42509 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 fat (RPKM 4.5), lung (RPKM 1.8) and 13 other tissues See more
HM13, Official Symbol HM13provided by HGNC Official Full Name histocompatibility minor 13provided by HGNC Primary source HGNC:HGNC:16435 See related Ensembl:ENSG00000101294 MIM:607106; AllianceGenome:HGNC:16435 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 H13; SPP; IMP1; PSL3; IMPAS; SPPL1; PSENL3; IMPAS-1; MSTP086 Summary The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 25.2), salivary gland (RPKM 22.4) and 25 other tissues See more Orthologs mouse all
HM13-AS1, Official Symbol HM13-AS1provided by HGNC Official Full Name HM13 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41940 See related Ensembl:ENSG00000230613 AllianceGenome:HGNC:41940 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 Ubiquitous expression in bone marrow (RPKM 2.5), liver (RPKM 0.9) and 25 other tissues See more
HM13-IT1, Official Symbol HM13-IT1provided by HGNC Official Full Name HM13 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41424 See related AllianceGenome:HGNC:41424 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
HMBOX1, Official Symbol HMBOX1provided by HGNC Official Full Name homeobox containing 1provided by HGNC Primary source HGNC:HGNC:26137 See related Ensembl:ENSG00000147421 MIM:618610; AllianceGenome:HGNC:26137 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 HOT1; TAH1; PBHNF; HNF1LA Summary Enables double-stranded telomeric DNA binding activity; identical protein binding activity; and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II; positive regulation of telomerase activity; and positive regulation of telomere maintenance via telomerase. Located in several cellular components, including centrosome; chromosome, telomeric region; and nuclear body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 3.8), testis (RPKM 3.5) and 25 other tissues See more Orthologs mouse all
HMBS, Official Symbol HMBSprovided by HGNC Official Full Name hydroxymethylbilane synthaseprovided by HGNC Primary source HGNC:HGNC:4982 See related Ensembl:ENSG00000256269 MIM:609806; AllianceGenome:HGNC:4982 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 UPS; PBGD; PORC; PBG-D Summary This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 55.8), colon (RPKM 5.0) and 13 other tissues See more Orthologs mouse all
HMCES, Official Symbol HMCESprovided by HGNC Official Full Name 5-hydroxymethylcytosine binding, ES cell specificprovided by HGNC Primary source HGNC:HGNC:24446 See related Ensembl:ENSG00000183624 MIM:618288; AllianceGenome:HGNC:24446 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 DC12; SRAPD1; C3orf37 Summary Enables single-stranded DNA binding activity. Involved in cellular response to DNA damage stimulus and protein-DNA covalent cross-linking. Located in replication fork. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 40.1), testis (RPKM 20.9) and 24 other tissues See more Orthologs mouse all
HMCN1, Official Symbol HMCN1provided by HGNC Official Full Name hemicentin 1provided by HGNC Primary source HGNC:HGNC:19194 See related Ensembl:ENSG00000143341 MIM:608548; AllianceGenome:HGNC:19194 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 ARMD1; FBLN6; FIBL6; FIBL-6 Summary This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 3.2), gall bladder (RPKM 2.4) and 21 other tissues See more Orthologs mouse all
HMCN2, Official Symbol HMCN2provided by HGNC Official Full Name hemicentin 2provided by HGNC Primary source HGNC:HGNC:21293 See related Ensembl:ENSG00000148357 AllianceGenome:HGNC:21293 Gene type protein coding RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable calcium ion binding activity. Predicted to be an extracellular matrix structural constituent. Predicted to be involved in cell adhesion. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in small intestine (RPKM 2.1), fat (RPKM 1.8) and 19 other tissues See more Orthologs mouse all
HMG20A, Official Symbol HMG20Aprovided by HGNC Official Full Name high mobility group 20Aprovided by HGNC Primary source HGNC:HGNC:5001 See related Ensembl:ENSG00000140382 MIM:605534; AllianceGenome:HGNC:5001 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 HMGX1; HMGXB1 Summary Enables identical protein binding activity. Predicted to be involved in regulation of gene expression. Predicted to act upstream of or within negative regulation of neuron differentiation; negative regulation of protein sumoylation; and negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 13.0), testis (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
HMG20B, Official Symbol HMG20Bprovided by HGNC Official Full Name high mobility group 20Bprovided by HGNC Primary source HGNC:HGNC:5002 See related Ensembl:ENSG00000064961 MIM:605535; AllianceGenome:HGNC:5002 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 SOXL; HMGX2; BRAF25; BRAF35; HMGXB2; PP7706; pp8857; SMARCE1r Summary Predicted to enable DNA binding activity. Predicted to be involved in regulation of gene expression. Predicted to act upstream of or within negative regulation of protein sumoylation; positive regulation of neuron differentiation; and skeletal muscle cell differentiation. Located in nuclear body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 40.0), kidney (RPKM 22.5) and 25 other tissues See more Orthologs mouse all
HMGA1, Official Symbol HMGA1provided by HGNC Official Full Name high mobility group AT-hook 1provided by HGNC Primary source HGNC:HGNC:5010 See related Ensembl:ENSG00000137309 MIM:600701; AllianceGenome:HGNC:5010 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 HMG-R; HMGIY; HMGA1A Summary This gene encodes a chromatin-associated protein involved in the regulation of gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of AT-rich regions in double-stranded DNA. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been identified on multiple chromosomes. [provided by RefSeq, Jan 2016] Expression Broad expression in lymph node (RPKM 58.3), bone marrow (RPKM 57.3) and 23 other tissues See more Orthologs mouse all
HMGA1P1, Official Symbol HMGA1P1provided by HGNC Official Full Name high mobility group AT-hook 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:13321 See related AllianceGenome:HGNC:13321 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 HMGA1L1; HMGIYL1
HMGA1P2, Official Symbol HMGA1P2provided by HGNC Official Full Name high mobility group AT-hook 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:13322 See related AllianceGenome:HGNC:13322 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 HMGA1L2; HMGIYL2
HMGA1P3, Official Symbol HMGA1P3provided by HGNC Official Full Name high mobility group AT-hook 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:13323 See related AllianceGenome:HGNC:13323 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 HMGA1L3; HMGIYL3
HMGA1P4, Official Symbol HMGA1P4provided by HGNC Official Full Name high mobility group AT-hook 1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:39093 See related AllianceGenome:HGNC:39093 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HMGA1P5, Official Symbol HMGA1P5provided by HGNC Official Full Name high mobility group AT-hook 1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:19120 See related AllianceGenome:HGNC:19120 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 HMGA1L5
HMGA1P6, Official Symbol HMGA1P6provided by HGNC Official Full Name high mobility group AT-hook 1 pseudogene 6provided by HGNC Primary source HGNC:HGNC:19121 See related AllianceGenome:HGNC:19121 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 HMGA1L6
HMGA1P7, Official Symbol HMGA1P7provided by HGNC Official Full Name high mobility group AT-hook 1 pseudogene 7provided by HGNC Primary source HGNC:HGNC:19122 See related AllianceGenome:HGNC:19122 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 HMGA1L7 Expression Low expression observed in reference dataset See more
HMGA1P8, Official Symbol HMGA1P8provided by HGNC Official Full Name high mobility group AT-hook 1 pseudogene 8provided by HGNC Primary source HGNC:HGNC:39183 See related AllianceGenome:HGNC:39183 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 HMGA1-p
HMGA2, Official Symbol HMGA2provided by HGNC Official Full Name high mobility group AT-hook 2provided by HGNC Primary source HGNC:HGNC:5009 See related Ensembl:ENSG00000149948 MIM:600698; AllianceGenome:HGNC:5009 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 BABL; LIPO; SRS5; HMGIC; HMGI-C; STQTL9 Summary This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
HMGA2-AS1, Official Symbol HMGA2-AS1provided by HGNC Official Full Name HMGA2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53973 See related Ensembl:ENSG00000197301 AllianceGenome:HGNC:53973 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more Orthologs all
HMGB1, Official Symbol HMGB1provided by HGNC Official Full Name high mobility group box 1provided by HGNC Primary source HGNC:HGNC:4983 See related Ensembl:ENSG00000189403 MIM:163905; AllianceGenome:HGNC:4983 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 HMG1; HMG3; HMG-1; SBP-1 Summary This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in bone marrow (RPKM 98.7), lymph node (RPKM 87.4) and 25 other tissues See more Orthologs mouse all
HMGB1P11, Official Symbol HMGB1P11provided by HGNC Official Full Name high mobility group box 1 pseudogene 11provided by HGNC Primary source HGNC:HGNC:13316 See related Ensembl:ENSG00000230547 AllianceGenome:HGNC:13316 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 HMGB1L11
HMGB1P12, Official Symbol HMGB1P12provided by HGNC Official Full Name high mobility group box 1 pseudogene 12provided by HGNC Primary source HGNC:HGNC:13317 See related Ensembl:ENSG00000223904 AllianceGenome:HGNC:13317 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 HMGB1L12
HMGB1P13, Official Symbol HMGB1P13provided by HGNC Official Full Name high mobility group box 1 pseudogene 13provided by HGNC Primary source HGNC:HGNC:13318 See related Ensembl:ENSG00000220557 AllianceGenome:HGNC:13318 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 HMGB1L13
HMGB1P16, Official Symbol HMGB1P16provided by HGNC Official Full Name high mobility group box 1 pseudogene 16provided by HGNC Primary source HGNC:HGNC:39098 See related AllianceGenome:HGNC:39098 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HMGB1P17, Official Symbol HMGB1P17provided by HGNC Official Full Name high mobility group box 1 pseudogene 17provided by HGNC Primary source HGNC:HGNC:39099 See related Ensembl:ENSG00000217482 AllianceGenome:HGNC:39099 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HMGB1P18, Official Symbol HMGB1P18provided by HGNC Official Full Name high mobility group box 1 pseudogene 18provided by HGNC Primary source HGNC:HGNC:39100 See related AllianceGenome:HGNC:39100 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo