HLA-DRB1

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
HLA-DRB1
1AQD.png
Available structures
PDB Human UniProt search: PDBe RCSB
Identifiers
Aliases HLA-DRB1, DRB1, DRw10, HLA-DR1B, HLA-DRB, SS1, major histocompatibility complex, class II, DR beta 1
External IDs HomoloGene: 136635 GeneCards: HLA-DRB1
Gene location (Human)
Chromosome 6 (human)
Chr. Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for HLA-DRB1
Genomic location for HLA-DRB1
Band 6p21.32 Start 32,578,769 bp[1]
End 32,589,848 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001243965
NM_002124
NM_001359193
NM_001359194

n/a

RefSeq (protein)

n/a

Location (UCSC) Chr 6: 32.58 – 32.59 Mb n/a
PubMed search [2] n/a
Wikidata
View/Edit Human

HLA class II histocompatibility antigen, DRB1 beta chain is a protein that in humans is encoded by the HLA-DRB1 gene.[3] DRB1 encodes the most prevalent beta subunit of HLA-DR. Several alleles of DRB1 (shared epitope alleles)[4] are associated with an increased incidence of rheumatoid arthritis.

Function

The protein encoded by this gene belongs to the HLA class II beta chain paralogues. 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 to T helper cells. Class II molecules are constitutively expressed in professional antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages),[3] and could be induced in non-professional APCs.

Gene structure and polymorphisms

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 typing for these polymorphisms is routinely done for bone marrow and kidney transplantation.[3]

Gene expression

DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9.[3]

Prevalence of the HLA-DRB1*10:01 allele was greatly increased in people with anti-IgLON5 disease.[5]

See also

References

  1. ^ a b c ENSG00000206240, ENSG00000229074, ENSG00000196126, ENSG00000206306, ENSG00000228080 GRCh38: Ensembl release 89: ENSG00000236884, ENSG00000206240, ENSG00000229074, ENSG00000196126, ENSG00000206306, ENSG00000228080 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". 
  3. ^ a b c d "Entrez Gene: HLA-DRB1 major histocompatibility complex, class II, DR beta 1". 
  4. ^ Gregersen PK, Silver J, Winchester RJ (November 1987). "The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis". Arthritis and Rheumatism. 30 (11): 1205–13. doi:10.1002/art.1780301102. PMID 2446635. 
  5. ^ Gaig C, Graus F, Compta Y, Högl B, Bataller L, Brüggemann N, Giordana C, Heidbreder A, Kotschet K, Lewerenz J, Macher S, Martí MJ, Montojo T, Pérez-Pérez J, Puertas I, Seitz C, Simabukuro M, Téllez N, Wandinger KP, Iranzo A, Ercilla G, Sabater L, Santamaría J, Dalmau J (May 2017). "Clinical manifestations of the anti-IgLON5 disease". Neurology. 88 (18): 1736–1743. doi:10.1212/WNL.0000000000003887. PMC 5409845Freely accessible. PMID 28381508. 

Further reading

  • Turesson C, Matteson EL (January 2006). "Genetics of rheumatoid arthritis". Mayo Clinic Proceedings. 81 (1): 94–101. doi:10.4065/81.1.94. PMID 16438485. 
  • Ahmad T, Marshall SE, Jewell D (June 2006). "Genetics of inflammatory bowel disease: the role of the HLA complex". World Journal of Gastroenterology. 12 (23): 3628–35. doi:10.3748/wjg.v12.i23.3628. PMID 16773677. 
  • Schmidt H, Williamson D, Ashley-Koch A (May 2007). "HLA-DR15 haplotype and multiple sclerosis: a HuGE review". American Journal of Epidemiology. 165 (10): 1097–109. doi:10.1093/aje/kwk118. PMID 17329717. 
Retrieved from "https://en.wikipedia.org/w/index.php?title=HLA-DRB1&oldid=851198671"
This content was retrieved from Wikipedia : http://en.wikipedia.org/wiki/HLA-DRB1
This page is based on the copyrighted Wikipedia article "HLA-DRB1"; it is used under the Creative Commons Attribution-ShareAlike 3.0 Unported License (CC-BY-SA). You may redistribute it, verbatim or modified, providing that you comply with the terms of the CC-BY-SA