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HLA-DQA1 Gene

protein-coding   GIFtS: 67
GCID: GC06P032595

Major Histocompatibility Complex, Class II, DQ Alpha 1


(Previous symbol: HLA-DQA)
  See HLA-DQA1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Major Histocompatibility Complex, Class II, DQ Alpha 11 2     HLA Class II Histocompatibility Antigen, DQ Alpha 1 Chain2
HLA-DQA1 2     HLA Class II Histocompatibility Antigen, DQ(W3) Alpha Chain2
DC-alpha2 3     Leucocyte Antigen DQA12
HLA-DCA2 3     Leukocyte Antigen Alpha Chain2
DC-1 Alpha Chain2 3     MHC Class II Antigen2
MHC Class II DQA12 3     MHC Class II HLA-D Alpha Glycoprotein2
CELIAC12 5     MHC Class II HLA-DQ-Alpha-12
CD2     MHC Class II Surface Glycoprotein2
DQ-A12     MHC HLA-DQ Alpha2
GSE2     

External Ids:    HGNC: 49421   Entrez Gene: 31172   Ensembl: ENSG000001967357   OMIM: 1468805   UniProtKB: P019093   

Export aliases for HLA-DQA1 gene to outside databases

Previous GC identifers: GC06P032649 GC06Pd32632 GC06P032375 GC06P032714 GC06P032346


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HLA-DQA1 Gene:
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)

GeneCards Summary for HLA-DQA1 Gene:
HLA-DQA1 (major histocompatibility complex, class II, DQ alpha 1) is a protein-coding gene. Diseases associated with HLA-DQA1 include tubulointerstitial nephritis and uveitis, and celiac disease. GO annotations related to this gene include MHC class II receptor activity. An important paralog of this gene is HLA-DRB5.

UniProtKB/Swiss-Prot: DQA1_HUMAN, P01909
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. The peptides presented by MHC class II molecules are generated mostly by degradation
of proteins that access the endocytic route, where they are processed by lysosomal proteases and other
hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation
via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous.
As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also
contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from
endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with
MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as
epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI
tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of
an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry
of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential
degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP
(class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to
the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high
affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell
membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the
regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and
efficient peptide loading

Gene Wiki entry for HLA-DQA1 (Major histocompatibility complex, class II, DQ alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NT_167247.2  NT_167245.2  NT_167246.2  NT_167249.2  NC_000006.11  NT_007592.16  NT_113891.3  NT_167248.2  
NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HLA-DQA1 gene promoter:
         AML1a   Pbx1a   NRSF form 1   FOXD1   NRSF form 2   Evi-1   CREB   Zic1   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHLA-DQA1 promoter sequence
   Search Chromatin IP Primers for HLA-DQA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HLA-DQA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.32   HGNC cytogenetic band: 6p21.3

HLA-DQA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HLA-DQA1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P032595:  view genomic region     (about GC identifiers)

Start:
32,595,956 bp from pter      End:
32,614,839 bp from pter
Size:
18,884 bases      Orientation:
plus strand

5 alternative locations:
Chr6+,NT_167246 4,061,343-4,067,504      Chr6+,NT_113891.2 4,055,571-4,061,859      Chr6+,NT_167249 4,038,635-4,044,830     
Chr6+,NT_167245 3,886,910-3,893,071      Chr6+,NT_167248 3,842,030-3,848,318     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DQA1_HUMAN, P01909 (See protein sequence)
Recommended Name: HLA class II histocompatibility antigen, DQ alpha 1 chain precursor  
Size: 254 amino acids; 27805 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Sequence caution: Sequence=AAD56720.1; Type=Erroneous gene model prediction;
6 PDB 3D structures from and Proteopedia for HLA-DQA1:
1JK8 (3D)        1NBN (3D)        1S9V (3D)        1UVQ (3D)        2NNA (3D)        4GG6 (3D)    
Secondary accessions: O19630 O19706 P01907 P01908 P04225 P04226 P05536 P79553 Q06751 Q29876
Q29994 Q2Q6Y6 Q2Q6Y7 Q2Q6Y8 Q2WCM3 Q30064 Q30067 Q30068 Q30070 Q30071 Q30072 Q30073 Q30086
Q30101 Q5Y7D5 Q5Y7F5 Q6ICU6 Q6PR46 Q6QDB1 Q860W2 Q860W4 Q9BD37 Q9TPM3 Q9UM31

Explore the universe of human proteins at neXtProt for HLA-DQA1: NX_P01909

Explore proteomics data for HLA-DQA1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn103, Asn143
  • Modification sites at PhosphoSitePlus

  • See HLA-DQA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002113.2  
    ENSEMBL proteins: 
     ENSP00000405797   ENSP00000339398   ENSP00000378767   ENSP00000437302   ENSP00000364087  
     ENSP00000436546  
    Reactome Protein details: P01909

    HLA-DQA1 Human Recombinant Protein Products:

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    Novus Biologicals HLA-DQA1 Protein
    Novus Biologicals HLA-DQA1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for HLA-DQA1 

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for HLA-DQA1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    HLA: Histocompatibility complex
    C1SET: Immunoglobulin superfamily / C1-set domain containing

    Selected InterPro protein domains (see all 7):
     IPR001003 MHC_II_a_N
     IPR011162 MHC_I/II-like_Ag-recog
     IPR013783 Ig-like_fold
     IPR014745 MHC_II_a/b_N
     IPR003597 Ig_C1-set

    Graphical View of Domain Structure for InterPro Entry P01909

    ProtoNet protein and cluster: P01909

    2 Blocks protein domains:
    IPB001003 MHC Class II alpha chain
    IPB003597 Immunoglobulin C-type


    UniProtKB/Swiss-Prot: DQA1_HUMAN, P01909
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    Find genes that share domains with HLA-DQA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DQA1_HUMAN, P01909
    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. The peptides presented by MHC class II molecules are generated mostly by degradation
    of proteins that access the endocytic route, where they are processed by lysosomal proteases and other
    hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation
    via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous.
    As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also
    contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from
    endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with
    MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as
    epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI
    tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of
    an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry
    of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential
    degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP
    (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to
    the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high
    affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell
    membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
    Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the
    regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and
    efficient peptide loading

         Genatlas biochemistry entry for HLA-DQA1:
    HLA-DQ,alpha chain

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0032395MHC class II receptor activity TAS2300572
         
    Find genes that share ontologies with HLA-DQA1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for HLA-DQA1:
     G0/1 arrest  Increased G1 DNA content  Increased cell size  Increased number of mitotic ce 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for H2-Aa):
     hematopoietic system  immune system 

    Find genes that share phenotypes with HLA-DQA1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out H2-AaH2-tm1Blt for HLA-DQA1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HLA-DQA1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HLA-DQA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HLA-DQA1

    miRNA
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    miRTarBase miRNAs that target HLA-DQA1:
    hsa-mir-122-5p (MIRT023357)

    Block miRNA regulation of human, mouse, rat HLA-DQA1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate HLA-DQA1:
    hsa-miR-137 hsa-miR-494
    SwitchGear 3'UTR luciferase reporter plasmidHLA-DQA1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HLA-DQA1

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    Clone
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    GenScript: all cDNA clones in your preferred vector: HLA-DQA1 (NM_002122)
    Sino Biological Human cDNA Clone for HLA-DQA1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HLA-DQA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLA-DQA1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DQA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DQA1_HUMAN, P01909: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic
    pathway until it reaches the cell membrane for antigen presentation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    endosome5
    lysosome5
    plasma membrane5
    vacuole5
    golgi apparatus4
    extracellular2
    cytosol1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005765lysosomal membrane TAS--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane NAS3584986
    GO:0010008endosome membrane IEA--

    Find genes that share ontologies with HLA-DQA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HLA-DQA1 About   (see all 25)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Allograft rejection
    Allograft rejection0.86
    Intestinal immune network for IgA production0.41
    Allograft Rejection0.86
    Viral myocarditis0.40
    Type I diabetes mellitus0.69
    CTL Mediated Apoptosis0.38
    Graft-versus-host disease0.65
    THC Differentiation Pathway0.38
    2CD28 co-stimulation
    Costimulation by the CD28 family0.44
    CTLA4 Signaling0.30
    3Translocation of ZAP-70 to Immunological synapse
    Translocation of ZAP-70 to Immunological synapse0.83
    PD-1 signaling0.72
    Phosphorylation of CD3 and TCR zeta chains0.83
    Generation of second messenger molecules0.62
    4Immune response Antigen presentation by MHC class II
    Immune response Antigen presentation by MHC class II0.46
    Immune response IL 22 signaling pathway0.31
    G protein signaling N RAS regulation pathway0.46
    5ICos-ICosL Pathway in T-Helper Cell
    ICos-ICosL Pathway in T-Helper Cell0.66
    Calcium Mediated T-Cell Apoptosis0.31
    CD28 Signaling in T-Helper Cell0.66


    Find genes that share SuperPaths with HLA-DQA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for HLA-DQA1 (see all 12)
        THC Differentiation Pathway
    Calcium Mediated T-Cell Apoptosis
    IL-4 Pathway
    ICos-ICosL Pathway in T-Helper Cell
    CDC42 Pathway

    Selected GeneGo (Thomson Reuters) Pathways for HLA-DQA1 (see all 6)
        Immune response Antigen presentation by MHC class II
    Immune response ICOS pathway in T-helper cell
    Immune response T cell receptor signaling pathway
    Immune response IL-22 signaling pathway
    G-protein signaling N-RAS regulation pathway

    1 BioSystems Pathway for HLA-DQA1
        Allograft Rejection

    1 Sino Biological Pathway for HLA-DQA1
        NF-kB (NFkB) Pathway

    Selected Reactome Pathways for HLA-DQA1 (see all 7)
        Translocation of ZAP-70 to Immunological synapse
    Interferon gamma signaling
    Downstream TCR signaling
    PD-1 signaling
    MHC class II antigen presentation


    Selected Kegg Pathways  (Kegg details for HLA-DQA1) (see all 21):
        Phagosome
    Cell adhesion molecules (CAMs)
    Antigen processing and presentation
    Intestinal immune network for IgA production
    Type I diabetes mellitus

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HLA-DQA1
    Interactions:

        GeneGlobe Interaction Network for HLA-DQA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HLA-DQA1 (P019092, 3 ENSP000003393984) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HLA-DQB1P019202, 3, ENSP000003820344MINT-24807 I2D: score=6 STRING: ENSP00000382034
    ENSG00000225824P019202, 3MINT-24807 I2D: score=6 
    ENSG00000231286P019202, 3MINT-24807 I2D: score=6 
    ENSG00000233209P019202, 3MINT-24807 I2D: score=6 
    CD74P042332, 3, ENSP000000095304MINT-72791 I2D: score=2 STRING: ENSP00000009530
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002504antigen processing and presentation of peptide or polysaccharide antigen via MHC class II ----
    GO:0006955immune response NAS3584986
    GO:0019221cytokine-mediated signaling pathway TAS--
    GO:0019882antigen processing and presentation ----
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--

    Find genes that share ontologies with HLA-DQA1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HLA-DQA1 (DQA1)

    8 Novoseek inferred chemical compound relationships for HLA-DQA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hbgg 87.7 13 7595333 (2), 8784991 (2), 9144942 (2), 11348809 (2) (see all 8)
    dpa 1 80.7 4 8863870 (1), 10616003 (1), 8948898 (1), 19143818 (1)
    oligonucleotide 39.6 7 8590780 (1), 9914967 (1), 12144622 (1), 1753955 (1) (see all 6)
    polyacrylamide 16.6 1 11449304 (1)
    aspartate 3.87 1 7983809 (1)
    silver 0.664 1 11449304 (1)
    arginine 0 1 7983809 (1)
    paraffin 0 1 9714476 (1)

    3 PharmGKB related drug/compound annotations for HLA-DQA1 gene    About this table
    Drug/compound PharmGKB Annotation
    interferon beta-1aCA  
    interferon beta-1bCA  
    lapatinib



    Find genes that share compounds with HLA-DQA1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HLA-DQA1 gene: 
    NM_002122.3  

    Unigene Clusters for HLA-DQA1:

    Major histocompatibility complex, class II, DQ alpha 1
    Hs.387679  [show with all ESTs], Hs.591798  [show with all ESTs]
    Unigene Representative Sequences: AB209628, BM919808
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000422863 ENST00000343139(uc003obr.3) ENST00000395363(uc003obu.3)
    ENST00000496318 ENST00000374949 ENST00000482745(uc003obs.3) ENST00000460633(uc003obt.1)

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    Additional mRNA sequence: 

    AF533910.1 AF533916.1 AF533922.1 AF533926.1 AF533933.1 DQ284437.1 DQ284438.1 DQ284439.1 
    J00199.1 JF895477.1 L34088.1 L34089.1 L34352.1 M11124.1 M95727.1 M95728.1 

    Selected DOTS entries (see all 44):

    DT.91771249  DT.100794755  DT.91837951  DT.95134359  DT.317668  DT.121314783  DT.100031261  DT.121314551 
    DT.91771252  DT.97855223  DT.415581  DT.121314709  DT.97789469  DT.121314757  DT.100031266  DT.91771262 
    DT.100031265  DT.91771251  DT.121314796  DT.100031262  DT.121314678  DT.121314720  DT.101956786  DT.121314540 

    Selected AceView cDNA sequences (see all 548):

    BV177637 BV177276 AW388115 L46875 BU617246 CA306036 BV176870 AU076978 
    AW388107 L34083 AF533930 BM694667 BV177914 BV177713 BU680454 BV176869 
    BV177061 CK820437 NM_002122 CA309331 BG756170 BV177094 AW388120 BM982416 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HLA-DQA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HLA-DQA1 Expression
    About this image


    HLA-DQA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Body Subcutaneous White Adipose
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
    HLA-DQA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HLA-DQA1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.387679 Hs.591798
        Custom PCR Arrays for HLA-DQA1
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HLA-DQA1 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia H2-Aa1 , 5 histocompatibility 2, class II antigen A, alpha1, 5 80.91(n)1
    72.2(a)1
      17 (17.98 cM)5
    149601  NM_010378.21  NP_034508.21 
     342827445 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    49(a)
    47(a)
    many ↔ many
    many ↔ many
    GL343775.1(20845-38928)
    GL343809.1(2435-3996)
    zebrafish
    (Danio rerio)
    Actinopterygii si:busm1-266f07.26
    si:busm1-266f07.2
    33(a)
    many ↔ many
    8(37539907-37543263) ENSDARG00000031745


    ENSEMBL Gene Tree for HLA-DQA1 (if available)
    TreeFam Gene Tree for HLA-DQA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HLA-DQA1 gene
    HLA-DRB52  HLA-DPA12  HLA-DQB12  HLA-DRA2  HLA-DRB12  HLA-DOB2  HLA-DMA2  HLA-DQB22  
    HLA-DOA2  ENSG000002489932  HLA-DMB2  HLA-DQA22  HLA-DPB12  
    Selected SIMAP similar genes for HLA-DQA1 using alignment to 194 protein entries:     DQA1_HUMAN (see all proteins) (see all similar genes):
    DQ-A1    HLA-DQA2    HLA-DQA1/DRA    DQA1-0103    HLA-DPA1    HLA-DRA
    HLA-DOA    HLA-DRA1    HLA-DMA    HLA-DRB5    IGLC6    HLA DRB4
    HLA-DRB4*0102    IGLC1    IGLC2    IGLC3    HLA-DRB4    DKFZp667J0810

    Find genes that share paralogs with HLA-DQA1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    DQA1_HUMAN, P01909: The following alleles of DQA1 are known: DQA1*01:01, DQA1*01:02, DQA1*01:03, DQA1*01:04, DQA1*01:05,
    DQA1*01:06, DQA1*01:07, DQA1*02:01, DQA1*03:01, DQA1*03:02, DQA1*03:03, DQA1*04:01, DQA1*04:02, DQA1*04:03,
    DQA1*04:04, DQA1*05:01, DQA1*05:02, DQA1*05:03, DQA1*05:04, DQA1*05:05, DQA1*05:06, DQA1*05:07, DQA1*05:08,
    DQA1*05:09, DQA1*06:01, DQA1*06:02. The sequence shown is that of DQA1*05:01
    DQA1_HUMAN, P01909: DQ2 (heterodimer of DQA1*05:01/DQB1*02:01) is associated with more than 90% of celiac disease
    patients. A minority displays DQ8 (heterodimer of DQA1*03/DQB1*03:02). DQ0602 (heterodimer of
    DQA1*01:02/DQB1*06:02) confers dominant protection against type 1 diabetes (T1D) and strong susceptibility to
    narcolepsy


    Selected SNPs for HLA-DQA1 (see all 1732)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1125153721,2
    C--32520944(+) GTGTTTGAC/-  
            
    TGAAT
    1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs2016701691,2
    --32520946(+) TTTGA-/TCTGAA 1 -- us2k10--------
    rs94692001,2
    C--32520970(+) cagtcC/Tagctg 1 -- us2k10--------
    rs1114851561,2
    C--32520970(+) CAGTCT/CAGCTG 1 -- us2k14Minor allele frequency- C:0.07NA WA EA 360
    rs1140255741,2
    C,F--32520988(+) AAATTG/AACCAT 1 -- us2k13Minor allele frequency- A:0.07WA NA EA 358
    rs1147749601,2
    C,F--32520992(+) TGACCA/TTTAAT 1 -- us2k12Minor allele frequency- T:0.09WA EA 238
    rs92722601,2
    C,F--32520994(+) ACCATT/AAATCA 1 -- us2k1 tfbs37Minor allele frequency- A:0.14NA MN WA EA 382
    rs92722611,2
    C,F--32521000(+) AATCAG/ATTGTA 1 -- us2k15Minor allele frequency- A:0.20WA NA EA 362
    rs288481721,2
    C,F--32521035(+) TTTGGG/TGAGGA 1 -- us2k15Minor allele frequency- T:0.08WA NA EA 364
    rs92722621,2
    C,F--32521049(+) AAGAAA/TGAGGG 1 -- us2k1 tfbs3 trp35Minor allele frequency- T:0.11WA NA EA 362

    HapMap Linkage Disequilibrium report for HLA-DQA1 (32595956 - 32614839 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HLA-DQA1 (see all 65):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673715CNV Deletion23128226
    esv2676540CNV Deletion23128226
    esv2731847CNV Deletion23290073
    esv2421710CNV Deletion20811451
    esv2668413CNV Deletion23128226
    dgv1046e201CNV Deletion23290073
    dgv1110e199CNV Deletion23128226
    esv2676495CNV Deletion23128226
    dgv6777n71CNV Loss21882294
    nsv514351CNV Loss21397061

    Human Gene Mutation Database (HGMD): HLA-DQA1
    Locus Specific Mutation Databases (LSDB): HLA-DQA1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HLA-DQA1
    DNA2.0 Custom Variant and Variant Library Synthesis for HLA-DQA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 146880   
    OMIM disorders: 212750  
    13 diseases for HLA-DQA1:    
    About MalaCards
    tubulointerstitial nephritis and uveitis    celiac disease    podoconiosis    common wart
    sympathetic ophthalmia    histoplasmosis    eosinophilia-myalgia syndrome    endometritis
    cervical dystonia    acute disseminated encephalomyelitis    dermatomyositis    type 1 diabetes mellitus
    pre-eclampsia

    2 diseases from the University of Copenhagen DISEASES database for HLA-DQA1:
    Celiac disease     Diabetes mellitus

    Find genes that share disorders with HLA-DQA1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for HLA-DQA1 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetes mellitus insulin-dependent 69.6 10 9458118 (2), 10697396 (2), 8820406 (1), 7817375 (1) (see all 8)
    genetic susceptibility 53.5 7 10194252 (2), 8820406 (1), 10522814 (1), 15164102 (1) (see all 6)
    graves disease 37.4 1 15558498 (1)
    autoimmune diseases 36.3 3 9209509 (1), 8995182 (1), 7608264 (1)
    arthritis juvenile rheumatoid 29.8 1 7652738 (1)
    atopy 26 11 12890388 (4), 11953202 (1)
    autoimmune thyroid disease 21.9 1 9548077 (1)
    viral hepatitis 2.78 2 15231205 (1)
    tumors 1.32 3 12756506 (1), 15077289 (1), 9598907 (1)
    lupus erythematosus systemic 0 5 8406614 (2), 8456439 (1)

    GeneTests: HLA-DQA1
    GeneReviews: HLA-DQA1
    Genetic Association Database (GAD): HLA-DQA1
    Human Genome Epidemiology (HuGE) Navigator: HLA-DQA1 (561 documents)

    Export disorders for HLA-DQA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HLA-DQA1 gene, integrated from 10 sources (see all 853):
    (articles sorted by number of sources associating them with HLA-DQA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association between HLA-DQA1, -DQB1 gene polymorphisms and susceptibility to asthma in northern Chinese subjects. (PubMed id 12890388)1, 4, 9 Gao J....Liu Y. (Chin. Med. J. 2003)
    2. [Relationship between HLA-DQA1, -DQB1 genes polymorphism and susceptilibity to bronchial asthma among Northern Hans]. (PubMed id 11953202)1, 4, 9 Gao J....Liu Y. (Zhonghua Yi Xue Za Zhi 2002)
    3. [Study on the polymorphisme of human leucocyte antigen-DRB1, -DQA1 and -DQB1 alleles in patients with hepatitis B]. (PubMed id 15231205)1, 4, 9 Jiang Y.G. and Wang Y.M. (Zhonghua Liu Xing Bing Xue Za Zhi 2004)
    4. Relationship between HLA-DQA1 polymorphism and genetic susceptibility to idiopathic dilated cardiomyopathy. (PubMed id 15498363)1, 4, 9 Liu W....Sun N.L. (Chin. Med. J. 2004)
    5. Molecular analysis of HLA-DRB1, DQA1, DQB1, DQ promoter polymorphism and extended class I/class II haplotypes in the Seri Indians from Northwest Mexico. (PubMed id 12144622)1, 4, 9 Alaez C....Gorodezky C. (Tissue Antigens 2002)
    6. [Distribution of HLA DQA1, LDLR, GYPA, HBGG, D7S8, and GC locus alleles in the population of Russia]. (PubMed id 12165956)1, 4, 9 Kornienko I.V....Ivanov P.L. (Sud. Med. Ekspert. 2002)
    7. [Association of human leukocyte antigen-DQA1 with endometriosis of women in southern China]. (PubMed id 11718025)1, 4, 9 Zong L....Pan D. (Zhonghua Fu Chan Ke Za Zhi 2001)
    8. Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes. (PubMed id 20061363)1, 4, 9 Kohno T....Yokota J. (Carcinogenesis 2010)
    9. The association between the genetic polymorphism of HLA-DQA1, DQB1, and DRB1 and serum alanine aminotransferase levels in chronic hepatitis C in the Chinese population. (PubMed id 18028350)1, 4, 9 Yu R.B....Ge D.F. (J. Gastroenterol. Hepatol. 2008)
    10. [Association between HLA-DQA1, HLA-DQB1 alleles and risk of early pregnancy loss]. (PubMed id 18200971)1, 4, 9 Sipak-Szmigiel O....Giedrys-Kalemba S. (Ginekol. Pol. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3117 HGNC: 4942 AceView: HLA-DQA1andHLA-DQA2 Ensembl:ENSG00000196735 euGenes: HUgn3117
    ECgene: HLA-DQA1 Kegg: 3117 H-InvDB: HLA-DQA1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HLA-DQA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HLA-DQA1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HLA-DQA1 gene:
    Search GeneIP for patents involving HLA-DQA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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