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HLA-DQA1 (major histocompatibility complex, class II, DQ alpha 1)

Identity

Alias_namesHLA-DQA
Alias_symbol (synonym)CELIAC1
HGNC (Hugo) HLA-DQA1
LocusID (NCBI) 3117
Atlas_Id 43951
Location 6p21.32  [Link to chromosome band 6p21]
Location_base_pair Starts at 32605183 and ends at 32611429 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HLA-DQA1 (6p21.32) / GATC (12q24.31)HLA-DQA1 (6p21.32) / HLA-DRA (6p21.32)HLA-DQA1 (6p21.32) / RALGPS2 (1q25.2)
HLA-DQA1 (6p21.32) / ZNF285 (19q13.31)HLA-DQA2 (6p21.32) / HLA-DQA1 (6p21.32)HYPK (15q15.3) / HLA-DQA1 (6p21.32)
NDUFA10 (2q37.3) / HLA-DQA1 (6p21.32)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HLA-DQA1   4942
Cards
Entrez_Gene (NCBI)HLA-DQA1  3117  major histocompatibility complex, class II, DQ alpha 1
AliasesCD; CELIAC1; DQ-A1; GSE; 
HLA-DQA
GeneCards (Weizmann)HLA-DQA1
Ensembl hg19 (Hinxton)ENSG00000196735 [Gene_View]  chr6:32605183-32611429 [Contig_View]  HLA-DQA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000196735 [Gene_View]  chr6:32605183-32611429 [Contig_View]  HLA-DQA1 [Vega]
ICGC DataPortalENSG00000196735
TCGA cBioPortalHLA-DQA1
AceView (NCBI)HLA-DQA1
Genatlas (Paris)HLA-DQA1
WikiGenes3117
SOURCE (Princeton)HLA-DQA1
Genetics Home Reference (NIH)HLA-DQA1
Genomic and cartography
GoldenPath hg19 (UCSC)HLA-DQA1  -     chr6:32605183-32611429 +  6p21.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HLA-DQA1  -     6p21.32   [Description]    (hg38-Dec_2013)
EnsemblHLA-DQA1 - 6p21.32 [CytoView hg19]  HLA-DQA1 - 6p21.32 [CytoView hg38]
Mapping of homologs : NCBIHLA-DQA1 [Mapview hg19]  HLA-DQA1 [Mapview hg38]
OMIM146880   212750   
Gene and transcription
Genbank (Entrez)AB209628 AF012768 AF522250 AF533895 AF533896
RefSeq transcript (Entrez)NM_002122
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_032876 NT_007592 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249 NW_004929326
Consensus coding sequences : CCDS (NCBI)HLA-DQA1
Cluster EST : UnigeneHs.706240 [ NCBI ]
CGAP (NCI)Hs.706240
Alternative Splicing GalleryENSG00000196735
Gene ExpressionHLA-DQA1 [ NCBI-GEO ]   HLA-DQA1 [ EBI - ARRAY_EXPRESS ]   HLA-DQA1 [ SEEK ]   HLA-DQA1 [ MEM ]
Gene Expression Viewer (FireBrowse)HLA-DQA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3117
GTEX Portal (Tissue expression)HLA-DQA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01909   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP01909  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01909
Splice isoforms : SwissVarP01909
PhosPhoSitePlusP01909
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    IG_MHC (PS00290)   
Domains : Interpro (EBI)C1-set_C    Ig-like_dom    Ig-like_fold    Ig/MHC_CS    Ig_C1-set    MHC_I/II-like_Ag-recog    MHC_II_a/b_N    MHC_II_a_N   
Domain families : Pfam (Sanger)C1-set (PF07654)    C1-set_C (PF16196)    MHC_II_alpha (PF00993)   
Domain families : Pfam (NCBI)pfam07654    pfam16196    pfam00993   
Domain families : Smart (EMBL)IGc1 (SM00407)  MHC_II_alpha (SM00920)  
Conserved Domain (NCBI)HLA-DQA1
DMDM Disease mutations3117
Blocks (Seattle)HLA-DQA1
PDB (SRS)1JK8    1NBN    1S9V    1UVQ    2NNA    4GG6    4OZF    4OZG    4OZH    4OZI   
PDB (PDBSum)1JK8    1NBN    1S9V    1UVQ    2NNA    4GG6    4OZF    4OZG    4OZH    4OZI   
PDB (IMB)1JK8    1NBN    1S9V    1UVQ    2NNA    4GG6    4OZF    4OZG    4OZH    4OZI   
PDB (RSDB)1JK8    1NBN    1S9V    1UVQ    2NNA    4GG6    4OZF    4OZG    4OZH    4OZI   
Structural Biology KnowledgeBase1JK8    1NBN    1S9V    1UVQ    2NNA    4GG6    4OZF    4OZG    4OZH    4OZI   
SCOP (Structural Classification of Proteins)1JK8    1NBN    1S9V    1UVQ    2NNA    4GG6    4OZF    4OZG    4OZH    4OZI   
CATH (Classification of proteins structures)1JK8    1NBN    1S9V    1UVQ    2NNA    4GG6    4OZF    4OZG    4OZH    4OZI   
SuperfamilyP01909
Human Protein AtlasENSG00000196735
Peptide AtlasP01909
HPRD06765
IPIIPI00740326   
Protein Interaction databases
DIP (DOE-UCLA)P01909
IntAct (EBI)P01909
FunCoupENSG00000196735
BioGRIDHLA-DQA1
STRING (EMBL)HLA-DQA1
ZODIACHLA-DQA1
Ontologies - Pathways
QuickGOP01909
Ontology : AmiGOGolgi membrane  lysosomal membrane  plasma membrane  integral component of plasma membrane  immune response  endosome membrane  ER to Golgi transport vesicle membrane  membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  transport vesicle membrane  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  T cell costimulation  MHC class II receptor activity  MHC class II receptor activity  trans-Golgi network membrane  peptide antigen binding  MHC class II protein complex  T cell receptor signaling pathway  interferon-gamma-mediated signaling pathway  integral component of lumenal side of endoplasmic reticulum membrane  
Ontology : EGO-EBIGolgi membrane  lysosomal membrane  plasma membrane  integral component of plasma membrane  immune response  endosome membrane  ER to Golgi transport vesicle membrane  membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  transport vesicle membrane  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  T cell costimulation  MHC class II receptor activity  MHC class II receptor activity  trans-Golgi network membrane  peptide antigen binding  MHC class II protein complex  T cell receptor signaling pathway  interferon-gamma-mediated signaling pathway  integral component of lumenal side of endoplasmic reticulum membrane  
Pathways : KEGGPhagosome    Cell adhesion molecules (CAMs)    Antigen processing and presentation    Intestinal immune network for IgA production    Type I diabetes mellitus    Leishmaniasis    Toxoplasmosis    Staphylococcus aureus infection    Tuberculosis    Influenza A    HTLV-I infection    Herpes simplex infection    Epstein-Barr virus infection    Asthma    Autoimmune thyroid disease    Inflammatory bowel disease (IBD)    Systemic lupus erythematosus    Rheumatoid arthritis    Allograft rejection    Graft-versus-host disease    Viral myocarditis   
NDEx NetworkHLA-DQA1
Atlas of Cancer Signalling NetworkHLA-DQA1
Wikipedia pathwaysHLA-DQA1
Orthology - Evolution
OrthoDB3117
GeneTree (enSembl)ENSG00000196735
Phylogenetic Trees/Animal Genes : TreeFamHLA-DQA1
HOVERGENP01909
HOGENOMP01909
Homologs : HomoloGeneHLA-DQA1
Homology/Alignments : Family Browser (UCSC)HLA-DQA1
Gene fusions - Rearrangements
Fusion Cancer (Beijing)HLA-DQA1 [6p21.32]  -  RALGPS2 [1q25.2]  [FUSC000097]
Fusion Cancer (Beijing)HLA-DQA1 [6p21.32]  -  ZNF285 [19q13.31]  [FUSC000098]
Fusion Cancer (Beijing)HLA-DQA2 [6p21.32]  -  HLA-DQA1 [6p21.32]  [FUSC002396]  [FUSC002396]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHLA-DQA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HLA-DQA1
dbVarHLA-DQA1
ClinVarHLA-DQA1
1000_GenomesHLA-DQA1 
Exome Variant ServerHLA-DQA1
ExAC (Exome Aggregation Consortium)HLA-DQA1 (select the gene name)
Genetic variants : HAPMAP3117
Genomic Variants (DGV)HLA-DQA1 [DGVbeta]
DECIPHER (Syndromes)6:32605183-32611429  ENSG00000196735
CONAN: Copy Number AnalysisHLA-DQA1 
Mutations
ICGC Data PortalHLA-DQA1 
TCGA Data PortalHLA-DQA1 
Broad Tumor PortalHLA-DQA1
OASIS PortalHLA-DQA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHLA-DQA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHLA-DQA1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HLA-DQA1
DgiDB (Drug Gene Interaction Database)HLA-DQA1
DoCM (Curated mutations)HLA-DQA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HLA-DQA1 (select a term)
intoGenHLA-DQA1
Cancer3DHLA-DQA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM146880    212750   
Orphanet302    22629   
MedgenHLA-DQA1
Genetic Testing Registry HLA-DQA1
NextProtP01909 [Medical]
TSGene3117
GENETestsHLA-DQA1
Huge Navigator HLA-DQA1 [HugePedia]
snp3D : Map Gene to Disease3117
BioCentury BCIQHLA-DQA1
ClinGenHLA-DQA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3117
Chemical/Pharm GKB GenePA35066
Clinical trialHLA-DQA1
Miscellaneous
canSAR (ICR)HLA-DQA1 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHLA-DQA1
EVEXHLA-DQA1
GoPubMedHLA-DQA1
iHOPHLA-DQA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:39:27 CET 2016

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