Version: 8.0.0Date: Tue Jan 28 2025
Gene
HLA-DQA1
- Species
- Homo sapiens
- Symbol
- HLA-DQA1
- Name
- major histocompatibility complex, class II, DQ alpha 1
- Synonyms
- CD
- CELIAC1
- Biotype
- protein coding gene
- Automated Description
- Predicted to enable MHC class II protein complex binding activity and peptide antigen binding activity. Predicted to be involved in several processes, including antigen processing and presentation of exogenous peptide antigen via MHC class II; peptide antigen assembly with MHC class II protein complex; and positive regulation of T cell activation. Predicted to act upstream of or within antigen processing and presentation of peptide antigen and positive regulation of T cell differentiation. Located in membrane. Implicated in several diseases, including autoimmune disease (multiple); gastrointestinal system cancer (multiple); glomerulonephritis (multiple); hematologic cancer (multiple); and systemic scleroderma (multiple). Biomarker of hepatitis C and juvenile rheumatoid arthritis.
- RGD Description
- 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, Jul 2008]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR19944
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr6:32628179...32655272 + (27.09 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.