HLA-DQB1
From Wikipedia, the free encyclopedia
Major histocompatibility complex, class II, DQ beta 1
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Available structures: 1jk8, 1s9v | ||||||||||||||
Identifiers | ||||||||||||||
Symbol(s) | HLA-DQB1; CELIAC1; HLA-DQB; IDDM1 | |||||||||||||
External IDs | OMIM: 604305 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 3119 | n/a | ||||||||||||
Ensembl | ENSG00000206237 | n/a | ||||||||||||
Uniprot | P01918 | n/a | ||||||||||||
Refseq | NM_002123 (mRNA) NP_002114 (protein) |
n/a (mRNA) n/a (protein) |
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Location | Chr c6_COX: 32.7 - 32.7 Mb | n/a | ||||||||||||
Pubmed search | [1] | n/a |
Major histocompatibility complex, class II, DQ beta 1, also known as HLA-DQB1, is a human gene.
HLA-DQB1 belongs to the HLA class II beta chain paralogues. 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 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 DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation.[1]
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[edit] Further reading
- Todd JA (1990). "Genetic control of autoimmunity in type 1 diabetes.". Immunol. Today 11 (4): 122–9. PMID 2187469.
- Lau M, Terasaki PI, Park MS (1995). "International Cell Exchange, 1994.". Clinical transplants: 467–88. PMID 7547576.
- Todd JA (1997). "Genetics of type 1 diabetes.". Pathol. Biol. 45 (3): 219–27. PMID 9296067.
- Schmidt H, Williamson D, Ashley-Koch A (2007). "HLA-DR15 haplotype and multiple sclerosis: a HuGE review.". Am. J. Epidemiol. 165 (10): 1097–109. doi: . PMID 17329717.