HLA-DQB1

Major histocompatibility complex, class II, DQ beta 1, also known as HLA-DQB1, is a human gene and also denotes the genetic locus that contains this gene.[5] The protein encoded by this gene is one of two proteins that are required to form the DQ heterodimer, a cell surface receptor essential to the function of the immune system.

HLA-DQB1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1JK8, 1S9V, 1UVQ, 2NNA, 4GG6
Identifiers
Aliases	HLA-DQB1, CELIAC1, HLA-DQB, IDDM1, major histocompatibility complex, class II, DQ beta 1, HLA-DRB1
External IDs	OMIM: 604305 MGI: 103070 HomoloGene: 1603 GeneCards: HLA-DQB1
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p21.32 Start 32,659,467 bp[1] End 32,668,383 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 B1|17 17.98 cM Start 34,257,689 bp[2] End 34,269,419 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • peptide antigen binding • MHC class II receptor activity • GO:0001948 protein binding Cellular component • integral component of membrane • endocytic vesicle membrane • clathrin-coated endocytic vesicle membrane • endosome • Golgi apparatus • trans-Golgi network membrane • endoplasmic reticulum membrane • membrane • Golgi membrane • cell membrane • transport vesicle membrane • MHC class II protein complex • lysosomal membrane • endoplasmic reticulum • ER to Golgi transport vesicle membrane • lysosome • integral component of lumenal side of endoplasmic reticulum membrane • endosome membrane Biological process • antigen processing and presentation • antigen processing and presentation of exogenous peptide antigen via MHC class II • interferon-gamma-mediated signaling pathway • immunoglobulin production involved in immunoglobulin mediated immune response • immune system process • T cell costimulation • antigen processing and presentation of peptide or polysaccharide antigen via MHC class II • humoral immune response mediated by circulating immunoglobulin • immune response • T cell receptor signaling pathway • adaptive immune response Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3119	14961
Ensembl	ENSG00000233209 ENSG00000206237 ENSG00000231286 ENSG00000206302 ENSG00000179344 ENSG00000231939 ENSG00000225824	ENSMUSG00000073421
UniProt	P01920	P14483 P01921 P06342 P06343 P06345 P06346
RefSeq (mRNA)	NM_002123 NM_001243961 NM_001243962	NM_207105
RefSeq (protein)	NP_001230890 NP_001230891 NP_002114	NP_996988
Location (UCSC)	Chr 6: 32.66 – 32.67 Mb	Chr 17: 34.26 – 34.27 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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).[5]

Gene structure and polymorphisms

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 protein 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.[5][6]

Disease association

Diabetes

Several alleles of HLA-DQB1 are associated with an increased risk of developing type 1 diabetes.[7][8][9] The locus also has the genetic name IDDM1 as it is the highest genetic risk for type 1 diabetes. Again the DQB1*0201 and DQB1*0302 alleles, particularly the phenotype DQB1*0201/*0302 has a high risk of late onset type 1 diabetes. The risk is partially shared with the HLA-DR locus (DR3 and DR4 serotypes).

Celiac disease

Celiac1 is a genetic name for DQB1, the HLA DQB1*0201, *0202, and *0302 encode genes that mediate the autoimmune coeliac disease. Homozygotes of DQB1*0201 have a higher risk of developing the celiac disease, relative to any other genetic locus.[10]

Multiple sclerosis

Certain HLA-DQB1 alleles are also linked to a modest increased risk of multiple sclerosis.[11][12]

Narcolepsy

Other HLA-DQB1 alleles are associated with a predisposition to narcolepsy,[13] specifically HLA-DQB1*0602, which is carried by over 90% of patients with narcolepsy-cataplexy.[14]

Alleles

HLA-DQB1 alleles

Serotype	DQB1 allele
DQ2	*0201
	*0202
	*0203
DQ4	*0401
	*0402
DQ5	*0501
	*0502
	*0503
	*0504
DQ6	*0601
	*0602
	*0603
	*0604
	*0605
	*0609
DQ7	*0301
	*0304
DQ8	*0302
	*0305
DQ9	*0303

See also

• Major histocompatibility complex
• Human leukocyte antigen
• HLA-DQ

References

1. ENSG00000206237, ENSG00000231286, ENSG00000206302, ENSG00000179344, ENSG00000231939, ENSG00000225824 GRCh38: Ensembl release 89: ENSG00000233209, ENSG00000206237, ENSG00000231286, ENSG00000206302, ENSG00000179344, ENSG00000231939, ENSG00000225824 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000073421 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: HLA-DQB1 major histocompatibility complex, class II, DQ beta 1".
6. Lau M, Terasaki PI, Park MS (1994). "International Cell Exchange, 1994". Clinical Transplants: 467–88. PMID 7547576.
7. Todd JA (April 1990). "Genetic control of autoimmunity in type 1 diabetes". Immunology Today. 11 (4): 122–9. doi:10.1016/0167-5699(90)90049-F. PMID 2187469.
8. Todd JA (March 1997). "Genetics of type 1 diabetes". Pathologie-Biologie. 45 (3): 219–27. PMID 9296067.
9. Redondo MJ, Fain PR, Eisenbarth GS (2001). "Genetics of type 1A diabetes". Recent Progress in Hormone Research. 56: 69–89. doi:10.1210/rp.56.1.69. PMID 11237226.
10. Murray JA, Moore SB, Van Dyke CT, Lahr BD, Dierkhising RA, Zinsmeister AR, Melton LJ, Kroning CM, El-Yousseff M, Czaja AJ (December 2007). "HLA DQ gene dosage and risk and severity of celiac disease". Clinical Gastroenterology and Hepatology. 5 (12): 1406–12. doi:10.1016/j.cgh.2007.08.013. PMC 2175211. PMID 17919990.
11. Dyment DA, Sadovnick AD, Ebers GC, Sadnovich AD (1997). "Genetics of multiple sclerosis". Human Molecular Genetics. 6 (10): 1693–8. doi:10.1093/hmg/6.10.1693. PMID 9300661.
12. 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.
13. Kadotani H, Faraco J, Mignot E (May 1998). "Genetic studies in the sleep disorder narcolepsy". Genome Research. 8 (5): 427–34. doi:10.1101/gr.8.5.427. PMID 9582188.
14. "Narcolepsy Research - FAQs".

External links

• Overview of all the structural information available in the PDB for UniProt: P01920 (HLA class II histocompatibility antigen, DQ beta 1 chain) at the PDBe-KB.