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HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_002123 Homo sapiens major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1), mRNA. Full Length $359.89
ORF Sequence $227.94


Gene Symbol HLA-DQB1
Entrez Gene ID 3119
Full Name major histocompatibility complex, class II, DQ beta 1
Synonyms CELIAC1, HLA-DQB, IDDM1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p21.3
Summary HLA-DQB1 belongs to the HLA class II beta chain paralogs. 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. [provided by RefSeq].
Disorder

MIM: 604305

{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3);
mRNA NM_002123, 150418001
Protein NP_002114, 150418002
Product HLA class II histocompatibility antigen, DQ beta 1 chain precursor
RefSeq Status REVIEWED
KEGG
hsa05322Systemic lupus erythematosus
hsa05320Autoimmune thyroid disease
hsa05416Viral myocarditis
hsa04514Cell adhesion molecules (CAMs)
hsa05323Rheumatoid arthritis
hsa04145Phagosome
hsa05330Allograft rejection
hsa05140Leishmaniasis
hsa04672Intestinal immune network for IgA production
hsa05310Asthma
hsa04940Type I diabetes mellitus
hsa05150Staphylococcus aureus infection
hsa05145Toxoplasmosis
hsa05332Graft-versus-host disease
hsa04612Antigen processing and presentation
Reactome
REACT_12555Downstream TCR signaling
REACT_19324PD-1 signaling
REACT_12582Phosphorylation of CD3 and TCR zeta chains
REACT_25229Interferon Signaling
REACT_12526TCR signaling
REACT_12596Translocation of ZAP-70 to Immunological synapse
REACT_19344Costimulation by the CD28 family
REACT_6900Signaling in Immune system
REACT_12623Generation of second messenger molecules
REACT_25078Interferon gamma signaling
Process
IDNameEvidence
GO:0002504antigen processing and presentation of peptide or polysaccharide antigen via MHC class IIIEA
GO:0006955immune responseNAS
GO:0019221cytokine-mediated signaling pathwayTAS
GO:0031295T cell costimulationTAS
GO:0050852T cell receptor signaling pathwayTAS
GO:0060333interferon-gamma-mediated signaling pathwayTAS
Component
IDNameEvidence
GO:0005765lysosomal membraneIEA
GO:0005768endosomeIEA
GO:0005783endoplasmic reticulumIEA
GO:0005789endoplasmic reticulum membraneIEA
GO:0005794Golgi apparatusIEA
GO:0005886plasma membraneEXP
GO:0005886plasma membraneTAS
GO:0010008endosome membraneIEA
GO:0016020membraneNAS
GO:0016021integral to membraneIEA
GO:0042613MHC class II protein complexIEA
Function
IDNameEvidence
GO:0032395MHC class II receptor activityNAS
GeneCards HLA-DQB1
UniProt Q5Y7D6
MIM 604305
Ensembl ENSG00000179344
HGNC 4944
HPRD 05054

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