Log in to save this analysis

Save This Analysis

Gene Gene information from NCBI Gene database.
Entrez ID 3117
Gene name Major histocompatibility complex, class II, DQ alpha 1
Gene symbol HLA-DQA1
Synonyms (NCBI Gene)
CELIAC1DQ-A1DQA1HLA-DQAHLA-DQA1*HLA-DQB1
Chromosome 6
Chromosome location 6p21.32
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 der
miRNA miRNA information provided by mirtarbase database.
18 Show/Hide all (18)
miRTarBase ID miRNA Experiments Reference
MIRT023357 hsa-miR-122-5p Microarray 17612493
MIRT723077 hsa-miR-4645-5p HITS-CLIP 19536157
MIRT723076 hsa-miR-4673 HITS-CLIP 19536157
MIRT723075 hsa-miR-6798-3p HITS-CLIP 19536157
MIRT723077 hsa-miR-4645-5p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
ILF3 Unknown 7651394
RFX5 Unknown 11258423
RFXANK Unknown 11258423
RFXAP Unknown 11258423
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41 Show/Hide all (41)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0002503 Process Peptide antigen assembly with MHC class II protein complex IBA
GO:0002504 Process Antigen processing and presentation of peptide or polysaccharide antigen via MHC class II IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
146880 4942 ENSG00000196735
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01909
Protein name HLA class II histocompatibility antigen, DQ alpha 1 chain (DC-1 alpha chain) (DC-alpha) (HLA-DCA) (MHC class II DQA1)
Protein function Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. T
PDB 1JK8 , 1S9V , 1UVQ , 2NNA , 4GG6 , 4OZF , 4OZG , 4OZH , 4OZI , 5KSA , 5KSB , 5KSU , 5KSV , 6MFF , 6MFG , 6U3M , 6U3N , 6XP6 , 7SG0 , 7SG1 , 7SG2 , 8VSP , 8W83 , 8W84 , 8W85 , 8W86
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00993 MHC_II_alpha 29 → 108 Class II histocompatibility antigen, alpha domain Domain
PF07654 C1-set 114 → 195 Immunoglobulin C1-set domain Domain
Sequence
Sequence length 254
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Phagosome Downstream TCR signaling
Cell adhesion molecules Phosphorylation of CD3 and TCR zeta chains
Antigen processing and presentation Translocation of ZAP-70 to Immunological synapse
Hematopoietic cell lineage Generation of second messenger molecules
Th1 and Th2 cell differentiation MHC class II antigen presentation
Th17 cell differentiation PD-1 signaling
Intestinal immune network for IgA production Interferon gamma signaling
Type I diabetes mellitus  
Leishmaniasis  
Toxoplasmosis  
Staphylococcus aureus infection  
Tuberculosis  
Influenza A  
Human T-cell leukemia virus 1 infection  
Herpes simplex virus 1 infection  
Epstein-Barr virus infection  
Asthma  
Autoimmune thyroid disease  
Inflammatory bowel disease  
Systemic lupus erythematosus  
Rheumatoid arthritis  
Allograft rejection  
Graft-versus-host disease  
Viral myocarditis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
182
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (182)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 24162737, 29777097, 30617256, 31473137, 34493870, 34743297, 35379992, 35851147, 35879306, 37198259, 37985413, 39998322
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTI-NEUTROPHIL ANTIBODY ASSOCIATED VASCULITIS — GWAS catalog 28029757
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (303)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acral Lentiginous Malignant Melanoma Acral Lentiginous Malignant Melanoma BEFREE 9174138
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 28596278
★★★★★
★☆☆☆☆
Found in Text Mining only
Addison Disease Addison`s Disease BEFREE 11703366, 12072047, 25040682, 30968193, 7608264, 9398726
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 20061363
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 11972882
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASDB_DG 19836008
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 11937576, 27153935
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult-onset myasthenia gravis Myasthenia Gravis Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 25665771
★★★★★
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 23317308, 8884646
★★★★★
★☆☆☆☆
Found in Text Mining only