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HLA-DQA1 Gene(Protein Coding)

Major Histocompatibility Complex, Class II, DQ Alpha 1

GCID:
GC06P032629
GIFtS:
58
Genes Participants
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Aliases for HLA-DQA1 Gene

Aliases for HLA-DQA1 Gene

  • Major Histocompatibility Complex, Class II, DQ Alpha 1 2 3 5
  • MHC Class II DQA1 3 4
  • DC-1 Alpha Chain 3 4
  • DC-Alpha 3 4
  • HLA-DCA 3 4
  • HLA Class II Histocompatibility Antigen, DQ Alpha 1 Chain 3
  • MHC Class II HLA-DQ-Alpha-1 3
  • MHC HLA-DQ Alpha 3
  • CELIAC1 3
  • HLA-DQA 3
  • DQ-A1 3

External Ids for HLA-DQA1 Gene

Previous HGNC Symbols for HLA-DQA1 Gene

  • HLA-DQA

Previous GeneCards Identifiers for HLA-DQA1 Gene

  • GC06P032649
  • GC06Pd32632
  • GC06P032375
  • GC06P032714
  • GC06P032595
  • GC06P032346

Summaries for HLA-DQA1 Gene

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 Celiac Disease and Adult-Onset Myasthenia Gravis. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and CTLA4 Signaling. GO annotations related to this gene include peptide antigen binding and MHC class II receptor activity. An important paralog of this gene is HLA-DQA2.

UniProtKB/Swiss-Prot for HLA-DQA1 Gene

  • 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 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-DQA1 Gene

Genomics for HLA-DQA1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for HLA-DQA1 Gene

Enhancers for HLA-DQA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G032633 1.8 FANTOM5 Ensembl ENCODE dbSUPER 101.8 +8.8 8826 7.2 HDGF WRNIP1 FEZF1 GLI4 ZNF2 ZNF121 GLIS2 ZNF416 ZNF143 ZNF662 HLA-DQA1 HLA-DQB1 HLA-DQA2 HLA-DRB1 HLA-DQB2 HLA-DRB5 HLA-DRB6 PPT2 CYP21A1P HLA-DQB1-AS1
GH06G032664 1.3 ENCODE dbSUPER 99.7 +38.9 38899 5.0 HDGF PKNOX1 WRNIP1 GLI4 ZNF2 GLIS2 ZNF143 NFYC ZNF662 ZSCAN16 HLA-DQA1 HLA-DQB1 HLA-DQB1-AS1 HLA-DQB2 HLA-DRB1 HLA-DQA2 HLA-DRB6 C4A LY6G5B VPS52
GH06G032602 1.9 FANTOM5 Ensembl ENCODE dbSUPER 56.1 -21.0 -21007 10.3 HDGF PKNOX1 ATF1 ZNF143 FOS ZNF263 NFYC JUNB ZNF623 TBX21 HLA-DRB1 HLA-DRB5 HLA-DQA1 HLA-DQA2 HLA-DRB6 C4A HLA-DQB2 HLA-DOB HLA-DQB1 HLA-DMA
GH06G032640 0.9 dbSUPER 100.6 +13.8 13809 2.1 HDGF PKNOX1 ATF1 YY1 CBX5 ZNF143 ZNF207 FOS ZNF263 NFYC HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-DRB6 HLA-DQA2 HLA-DQB2 CYP21A1P HLA-DRB5 HLA-DQB1-AS1 GC06P032637
GH06G032660 0.9 ENCODE dbSUPER 100.6 +31.9 31895 1.5 TBP RAD51 POLR2A SMAD5 BHLHE40 CREB1 EBF1 CREM HLA-DQA1 HLA-DQB1 HLA-DQB2 HLA-DQA2 HLA-DQB1-AS1 CYP21A1P HLA-DRB6 GC06M032664
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HLA-DQA1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the HLA-DQA1 gene promoter:

Genomic Location for HLA-DQA1 Gene

Chromosome:
6
Start:
32,628,179 bp from pter
End:
32,654,774 bp from pter
Size:
26,596 bases
Orientation:
Plus strand

Genomic View for HLA-DQA1 Gene

Genes around HLA-DQA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLA-DQA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HLA-DQA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HLA-DQA1 Gene

Proteins for HLA-DQA1 Gene

Products:

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  3. Assay

  • Protein details for HLA-DQA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01909-DQA1_HUMAN
    Recommended name:
    HLA class II histocompatibility antigen, DQ alpha 1 chain
    Protein Accession:
    P01909
    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

    Protein attributes for HLA-DQA1 Gene

    Size:
    254 amino acids
    Molecular mass:
    27805 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAD56720.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HLA-DQA1 Gene

neXtProt entry for HLA-DQA1 Gene

Protein Expression for HLA-DQA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HLA-DQA1 Gene

  • Glycosylation at isoforms=103 and posLast=143143

Other Protein References for HLA-DQA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HLA-DQA1 Gene

Domains & Families for HLA-DQA1 Gene

Gene Families for HLA-DQA1 Gene

HGNC:

Protein Domains for HLA-DQA1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HLA-DQA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P01909

UniProtKB/Swiss-Prot:

DQA1_HUMAN :
  • Belongs to the MHC class II family.
Family:
  • Belongs to the MHC class II family.
genes like me logo Genes that share domains with HLA-DQA1: view

Function for HLA-DQA1 Gene

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  7. Flow Cytometry

Molecular function for HLA-DQA1 Gene

GENATLAS Biochemistry:
HLA-DQ,alpha chain
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for HLA-DQA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032395 MHC class II receptor activity TAS 2300572
GO:0042605 peptide antigen binding ISS 20356827
genes like me logo Genes that share ontologies with HLA-DQA1: view
genes like me logo Genes that share phenotypes with HLA-DQA1: view

Human Phenotype Ontology for HLA-DQA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HLA-DQA1 Gene

MGI Knock Outs for HLA-DQA1:

Animal Model Products

CRISPR Products

miRNA for HLA-DQA1 Gene

miRTarBase miRNAs that target HLA-DQA1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HLA-DQA1 Gene

Localization for HLA-DQA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-DQA1 Gene

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HLA-DQA1 gene
Compartment Confidence
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for HLA-DQA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with HLA-DQA1: view

Pathways & Interactions for HLA-DQA1 Gene

genes like me logo Genes that share pathways with HLA-DQA1: view

Gene Ontology (GO) - Biological Process for HLA-DQA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II IEA --
GO:0006955 immune response NAS 3584986
GO:0019882 antigen processing and presentation IEA --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
genes like me logo Genes that share ontologies with HLA-DQA1: view

No data available for SIGNOR curated interactions for HLA-DQA1 Gene

Drugs & Compounds for HLA-DQA1 Gene

Products:

  1. Drug

(6) Drugs for HLA-DQA1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Azathioprine Approved Pharma 177
Interferon beta-1a Approved, Investigational Pharma 200
Interferon beta-1b Approved Pharma 84
Lapatinib Approved March 2007, Investigational Pharma EGFR/HER2 inhibitor,potent,selective and reversible, HER2 and EGFR kinase inhibitor, HER2 Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 301
Mercaptopurine Approved Pharma 0

(7) Additional Compounds for HLA-DQA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HLA-DQA1: view

Transcripts for HLA-DQA1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for HLA-DQA1 Gene

(2) REFSEQ mRNAs :
(103) Additional mRNA sequences :
(548) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HLA-DQA1 Gene

Major histocompatibility complex, class II, DQ alpha 1:
Representative Sequences:

CRISPR Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HLA-DQA1 Gene

No ASD Table

Relevant External Links for HLA-DQA1 Gene

GeneLoc Exon Structure for
HLA-DQA1
ECgene alternative splicing isoforms for
HLA-DQA1

Expression for HLA-DQA1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HLA-DQA1 Gene

mRNA expression in normal human tissues for HLA-DQA1 Gene
mRNA expression by BioGPS for HLA-DQA1 GenemRNA expression by GTEx for HLA-DQA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HLA-DQA1 Gene

This gene is overexpressed in Spleen (x4.1).

Protein differential expression in normal tissues from HIPED for HLA-DQA1 Gene

This gene is overexpressed in Skin (19.3), Blymphocyte (17.6), Monocytes (7.2), Lymph node (6.9), and Oral epithelium (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HLA-DQA1 Gene



SOURCE GeneReport for Unigene cluster for HLA-DQA1 Gene:

Hs.387679

Evidence on tissue expression from TISSUES for HLA-DQA1 Gene

  • Lung(4.9)
  • Skin(4.9)
  • Nervous system(4.9)
  • Intestine(4.8)
  • Eye(4.7)
  • Muscle(4.7)
  • Pancreas(4.7)
  • Blood(4.6)
  • Kidney(4.6)
  • Liver(4.5)
  • Stomach(4.1)
  • Thyroid gland(3.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HLA-DQA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • nervous
  • skeleton
Organs:
Head and neck:
  • eye
  • head
  • jaw
  • lacrimal apparatus
  • mandible
  • maxilla
  • mouth
  • neck
  • salivary gland
  • skull
  • tongue
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with HLA-DQA1: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for HLA-DQA1 Gene

Orthologs for HLA-DQA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HLA-DQA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PATR-DQA1 34
  • 94.38 (n)
-- 35
  • 91 (a)
 ManyToMany
cow
(Bos Taurus)
 Mammalia LOC100848815 34
  • 84.58 (n)
BOLA-DQA1 35
  • 79 (a)
 ManyToMany
BOLA-DQA5 35
  • 78 (a)
 ManyToMany
BOLA-DQA2 35
  • 58 (a)
 ManyToMany
mouse
(Mus musculus)
 Mammalia H2-Aa 34 16 35
  • 80.91 (n)
rat
(Rattus norvegicus)
 Mammalia RT1-Ba 34
  • 80.45 (n)
dog
(Canis familiaris)
 Mammalia DLA-DQA 35
  • 46 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 49 (a)
 ManyToMany
-- 35
  • 47 (a)
 ManyToMany
zebrafish
(Danio rerio)
 Actinopterygii si:busm1-266f07.2 35
  • 33 (a)
 ManyToMany
Species where no ortholog for HLA-DQA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HLA-DQA1 Gene

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

Paralogs for HLA-DQA1 Gene

Paralogs for HLA-DQA1 Gene

(31) SIMAP similar genes for HLA-DQA1 Gene using alignment to 194 proteins:

genes like me logo Genes that share paralogs with HLA-DQA1: view

Variants for HLA-DQA1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HLA-DQA1 Gene

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.
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.

Sequence variations from dbSNP and Humsavar for HLA-DQA1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000401500 -- 32,646,283(+) ATTAG(C/T)GGGTC intron-variant
rs1000620461 -- 32,645,194(+) AAATG(G/T)ACCAC intron-variant
rs1000665512 -- 32,646,298(+) AGGCT(C/T)GTGCT intron-variant
rs1001712383 -- 32,647,990(+) AAACT(A/C/G)TGAAT intron-variant
rs1001794426 -- 32,645,814(+) TTTCA(A/G)TGATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HLA-DQA1 Gene

Variant ID Type Subtype PubMed ID
dgv1013n67 CNV loss 20364138
dgv1031n67 CNV loss 20364138
dgv1032n67 CNV loss 20364138
dgv1033n67 CNV loss 20364138
dgv1034n67 CNV loss 20364138
dgv1035n67 CNV loss 20364138
dgv1036n67 CNV loss 20364138
dgv10463n54 CNV loss 21841781
dgv10472n54 CNV loss 21841781
dgv10489n54 CNV loss 21841781
dgv10490n54 CNV loss 21841781
dgv10494n54 CNV gain 21841781
dgv10519n54 CNV gain+loss 21841781
dgv10529n54 CNV loss 21841781
dgv10542n54 CNV gain 21841781
dgv10549n54 CNV loss 21841781
dgv10554n54 CNV gain+loss 21841781
dgv10563n54 CNV gain 21841781
dgv10567n54 CNV loss 21841781
dgv10572n54 CNV loss 21841781
dgv10582n54 CNV loss 21841781
dgv10584n54 CNV loss 21841781
dgv10585n54 CNV loss 21841781
dgv10586n54 CNV loss 21841781
dgv10588n54 CNV loss 21841781
dgv10589n54 CNV loss 21841781
dgv10590n54 CNV loss 21841781
dgv10591n54 CNV loss 21841781
dgv10592n54 CNV loss 21841781
dgv10593n54 CNV gain 21841781
dgv1110e199 CNV deletion 23128226
dgv750n27 CNV loss 19166990
dgv999e201 CNV deletion 23290073
esv1003385 CNV gain 20482838
esv21985 CNV gain+loss 19812545
esv2421710 CNV deletion 20811451
esv2421999 OTHER complex 20811451
esv2459937 CNV loss 19546169
esv2668413 CNV deletion 23128226
esv2673715 CNV deletion 23128226
esv2676495 CNV deletion 23128226
esv2676540 CNV deletion 23128226
esv2731847 CNV deletion 23290073
esv2759416 CNV gain+loss 17122850
esv2763944 CNV gain+loss 21179565
esv29995 CNV gain 17803354
esv3274495 CNV deletion 24192839
esv32765 CNV gain 17666407
esv33476 CNV gain+loss 17666407
esv3608602 CNV loss 21293372
esv3608603 CNV gain 21293372
esv998922 CNV gain 20482838
nsv1017819 CNV gain 25217958
nsv1019395 CNV loss 25217958
nsv1025310 CNV loss 25217958
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1117611 CNV deletion 24896259
nsv1119076 CNV deletion 24896259
nsv1128225 CNV deletion 24896259
nsv428142 CNV gain+loss 18775914
nsv462881 CNV loss 19166990
nsv511120 OTHER complex 20534489
nsv514351 CNV loss 21397061
nsv525222 CNV loss 19592680
nsv602240 CNV gain 21841781
nsv602463 CNV loss 21841781
nsv602523 CNV loss 21841781
nsv602692 CNV gain 21841781
nsv602693 CNV gain 21841781
nsv602730 CNV loss 21841781
nsv602737 CNV gain 21841781
nsv7883 CNV gain+loss 18304495
nsv820032 CNV gain 19587683
nsv823622 CNV loss 20364138
nsv823623 CNV loss 20364138
nsv830632 CNV loss 17160897
nsv970657 CNV deletion 23825009

Variation tolerance for HLA-DQA1 Gene

Residual Variation Intolerance Score: 99.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 27.60; 99.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HLA-DQA1 Gene

Human Gene Mutation Database (HGMD)
HLA-DQA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HLA-DQA1

Disorders for HLA-DQA1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for HLA-DQA1 Gene - From: OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
celiac disease
  • celiac sprue
adult-onset myasthenia gravis
  • adult-onset acquired myasthenia
achalasia, familial esophageal
  • idiopathic achalasia
eosinophilia-myalgia syndrome
  • eosinophilia myalgia syndrome
podoconiosis
  • podoconiosis, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HLA-DQA1

Genetic Association Database (GAD)
HLA-DQA1
Human Genome Epidemiology (HuGE) Navigator
HLA-DQA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HLA-DQA1
genes like me logo Genes that share disorders with HLA-DQA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HLA-DQA1 Gene

Publications for HLA-DQA1 Gene

  1. Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes. (PMID: 20061363) Kohno T. … Yokota J. (Carcinogenesis 2010) 3 22 46 64
  2. Analysis of maternal-offspring HLA compatibility, parent-of-origin and non-inherited maternal effects for the classical HLA loci in type 1 diabetes. (PMID: 19143818) Bronson P.G. … Barcellos L.F. (Diabetes Obes Metab 2009) 3 22 46 64
  3. HLA class II polymorphism in children with coeliac disease in Tunisia: is there any influence on clinical manifestation? (PMID: 19474744) Laadhar L. … Ben Hariz M. (Eur J Gastroenterol Hepatol 2009) 3 22 46 64
  4. 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. (PMID: 18028350) Yu R.B. … Ge D.F. (J. Gastroenterol. Hepatol. 2008) 3 22 46 64
  5. Sequence-based typing of HLA-DQA1: comprehensive approach showed molecular heterogeneity. (PMID: 17445172) Voorter C.E. … van den Berg-Loonen E.M. (Tissue Antigens 2007) 3 22 46 64

Products for HLA-DQA1 Gene

Sources for HLA-DQA1 Gene

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