HLA-DQB1

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; OMA:HLA-DQB1 - orthologs
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 34,476,663 bp[2] End 34,488,393 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lung spleen upper lobe of left lung gallbladder lymph node monocyte granulocyte right coronary artery rectum visceral pleura Top expressed in mesenteric lymph nodes spleen thymus submandibular gland skin of external ear right lung lobe lip white adipose tissue right kidney subcutaneous adipose tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function peptide antigen binding MHC class II receptor activity 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 plasma 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: 34.48 – 34.49 Mb PubMed search [3] [4]
Wikidata
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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.

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

Autism

A four-loci genotype study showed that A*01-B*07-DRB1*0701- DQB1*0602 (P = 0.001, OR 41.9) and the A*31-B*51-DRB1*0103- DQB1*0302 (P = 0.012, OR 4.8) are positively associated with autism among Saudi patients.

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

See also

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

References

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.

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