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HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_002122 Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA. Full Length $447.18
ORF Sequence $222.72


Gene Symbol HLA-DQA1
Entrez Gene ID 3117
Full Name major histocompatibility complex, class II, DQ alpha 1
Synonyms CD, CELIAC1, DQ-A1, FLJ27088, FLJ27328, GSE, HLA-DQA, MGC149527
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p21.3
Summary HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The 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 alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and 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 four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq].
Disorder

MIM: 146880

{Celiac disease, susceptibility to}, 212750 (3)
mRNA NM_002122, 52426772
Protein NP_002113, 18426975
Product HLA class II histocompatibility antigen, DQ alpha 1 chain precursor
RefSeq Status REVIEWED
KEGG
hsa04145Phagosome
hsa05416Viral myocarditis
hsa05332Graft-versus-host disease
hsa05322Systemic lupus erythematosus
hsa05150Staphylococcus aureus infection
hsa05140Leishmaniasis
hsa04672Intestinal immune network for IgA production
hsa04940Type I diabetes mellitus
hsa04612Antigen processing and presentation
hsa05323Rheumatoid arthritis
hsa04514Cell adhesion molecules (CAMs)
hsa05320Autoimmune thyroid disease
hsa05330Allograft rejection
hsa05310Asthma
hsa05145Toxoplasmosis
Reactome
REACT_6900Signaling in Immune system
REACT_12526TCR signaling
REACT_25229Interferon Signaling
REACT_12596Translocation of ZAP-70 to Immunological synapse
REACT_25078Interferon gamma signaling
REACT_19324PD-1 signaling
REACT_12555Downstream TCR signaling
REACT_12623Generation of second messenger molecules
REACT_12582Phosphorylation of CD3 and TCR zeta chains
REACT_19344Costimulation by the CD28 family
Homo sapiens (human)HLA-DQA1NP_002113.2
Mus musculus (house mouse)H2-AaNP_034508.2
Rattus norvegicus (Norway rat)RT1-BaNP_001008831.1
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:0005887integral to plasma membraneNAS
GO:0010008endosome membraneIEA
GO:0042613MHC class II protein complexIEA
Function
IDNameEvidence
GO:0032395MHC class II receptor activityNAS
GO:0032395MHC class II receptor activityTAS
GeneCards HLA-DQA1
UniProt Q8MH44
MIM 146880
Ensembl ENSG00000196735
HGNC 4942
HPRD 06765

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