HLA-DQB1

From Wikipedia, the free encyclopedia


Major histocompatibility complex, class II, DQ beta 1
Available structures: 1jk8, 1s9v
Identifiers
Symbol(s) HLA-DQB1; CELIAC1; HLA-DQB; IDDM1
External IDs OMIM: 604305
RNA expression pattern

More reference expression data

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)
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] References

[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:10.1093/aje/kwk118. PMID 17329717.