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Gene id 3117
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol HLA-DQA1   Gene   UCSC   Ensembl
Aliases CELIAC1, DQ-A1, HLA-DQA
Gene name major histocompatibility complex, class II, DQ alpha 1
Alternate names HLA class II histocompatibility antigen, DQ alpha 1 chain, DC-1 alpha chain, DC-alpha, HLA-DCA, MHC HLA-DQ alpha, MHC class II DQA1, MHC class II HLA-DQ-alpha-1,
Gene location 6p21.32 (32637405: 32654845)     Exons: 6     NC_000006.12
Gene summary(Entrez) 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
OMIM 146880

Protein Summary
Protein general information P01909  

Name: HLA class II histocompatibility antigen, DQ alpha 1 chain (DC 1 alpha chain) (DC alpha) (HLA DCA) (MHC class II DQA1)

Length: 254  Mass: 27,805

Sequence MILNKALMLGALALTTVMSPCGGEDIVADHVASYGVNLYQSYGPSGQYTHEFDGDEQFYVDLGRKETVWCLPVLR
QFRFDPQFALTNIAVLKHNLNSLIKRSNSTAATNEVPEVTVFSKSPVTLGQPNILICLVDNIFPPVVNITWLSNG
HSVTEGVSETSFLSKSDHSFFKISYLTLLPSAEESYDCKVEHWGLDKPLLKHWEPEIPAPMSELTETVVCALGLS
VGLVGIVVGTVFIIRGLRSVGASRHQGPL
Structural information
Protein Domains
 Ig-like (112-204)
Interpro:  IPR007110  IPR036179  IPR013783  IPR003006  IPR003597  
IPR011162  IPR014745  IPR001003  
Prosite:   PS50835 PS00290

PDB:  		 1JK8 1NBN 1S9V 1UVQ 2NNA 4GG6 4OZF 4OZG 4OZH 4OZI 5KSA 5KSB 5KSU 5KSV
PDBsum:   1JK8 1NBN 1S9V 1UVQ 2NNA 4GG6 4OZF 4OZG 4OZH 4OZI 5KSA 5KSB 5KSU 5KSV
MINT:  
Other Databases GeneCards:  HLA-DQA1  Malacards:  HLA-DQA1

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0000139 Golgi membrane
 TAS cellular component
GO:0000139 Golgi membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005887 integral component of pla
sma membrane
 NAS cellular component
GO:0005887 integral component of pla
sma membrane
 NAS cellular component
GO:0006955 immune response
 NAS biological process
GO:0006955 immune response
 NAS biological process
GO:0010008 endosome membrane
 IEA cellular component
GO:0012507 ER to Golgi transport ves
icle membrane
 TAS cellular component
GO:0012507 ER to Golgi transport ves
icle membrane
 TAS cellular component
GO:0016020 membrane
 IDA cellular component
GO:0019886 antigen processing and pr
esentation of exogenous p
eptide antigen via MHC cl
ass II
 TAS biological process
GO:0030658 transport vesicle membran
e
 TAS cellular component
GO:0030658 transport vesicle membran
e
 TAS cellular component
GO:0030666 endocytic vesicle membran
e
 TAS cellular component
GO:0030666 endocytic vesicle membran
e
 TAS cellular component
GO:0030669 clathrin-coated endocytic
vesicle membrane
 TAS cellular component
GO:0030669 clathrin-coated endocytic
vesicle membrane
 TAS cellular component
GO:0031295 T cell costimulation
 TAS biological process
GO:0032395 MHC class II receptor act
ivity
 TAS molecular function
GO:0032395 MHC class II receptor act
ivity
 NAS molecular function
GO:0032395 MHC class II receptor act
ivity
 NAS molecular function
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0042605 peptide antigen binding
 ISS molecular function
GO:0042613 MHC class II protein comp
lex
 ISS cellular component
GO:0050852 T cell receptor signaling
pathway
 TAS biological process
GO:0060333 interferon-gamma-mediated
signaling pathway
 TAS biological process
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
 TAS cellular component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
 TAS cellular component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
 TAS cellular component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
 TAS cellular component
GO:0000139 Golgi membrane
 TAS cellular component
GO:0000139 Golgi membrane
 TAS cellular component
GO:0002376 immune system process
 IEA biological process
GO:0002504 antigen processing and pr
esentation of peptide or
polysaccharide antigen vi
a MHC class II
 IEA biological process
GO:0005764 lysosome
 IEA cellular component
GO:0005765 lysosomal membrane
 IEA cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005768 endosome
 IEA cellular component
GO:0005783 endoplasmic reticulum
 IEA cellular component
GO:0005789 endoplasmic reticulum mem
brane
 IEA cellular component
GO:0005794 Golgi apparatus
 IEA cellular component
GO:0005794 Golgi apparatus
 IEA cellular component
GO:0005886 plasma membrane
 IEA cellular component
GO:0005886 plasma membrane
 IEA cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005887 integral component of pla
sma membrane
 NAS cellular component
GO:0005887 integral component of pla
sma membrane
 NAS cellular component
GO:0006955 immune response
 IEA biological process
GO:0006955 immune response
 NAS biological process
GO:0006955 immune response
 NAS biological process
GO:0010008 endosome membrane
 IEA cellular component
GO:0012507 ER to Golgi transport ves
icle membrane
 TAS cellular component
GO:0012507 ER to Golgi transport ves
icle membrane
 TAS cellular component
GO:0016020 membrane
 IEA cellular component
GO:0016020 membrane
 IEA cellular component
GO:0016020 membrane
 IDA cellular component
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0019882 antigen processing and pr
esentation
 IEA biological process
GO:0019886 antigen processing and pr
esentation of exogenous p
eptide antigen via MHC cl
ass II
 TAS biological process
GO:0030658 transport vesicle membran
e
 TAS cellular component
GO:0030658 transport vesicle membran
e
 TAS cellular component
GO:0030666 endocytic vesicle membran
e
 TAS cellular component
GO:0030666 endocytic vesicle membran
e
 TAS cellular component
GO:0030669 clathrin-coated endocytic
vesicle membrane
 TAS cellular component
GO:0030669 clathrin-coated endocytic
vesicle membrane
 TAS cellular component
GO:0031295 T cell costimulation
 TAS biological process
GO:0032395 MHC class II receptor act
ivity
 TAS molecular function
GO:0032395 MHC class II receptor act
ivity
 NAS molecular function
GO:0032395 MHC class II receptor act
ivity
 NAS molecular function
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0042605 peptide antigen binding
 ISS molecular function
GO:0042613 MHC class II protein comp
lex
 IEA cellular component
GO:0042613 MHC class II protein comp
lex
 IEA cellular component
GO:0042613 MHC class II protein comp
lex
 ISS cellular component
GO:0050852 T cell receptor signaling
pathway
 TAS biological process
GO:0060333 interferon-gamma-mediated
signaling pathway
 TAS biological process
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
 TAS cellular component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
 TAS cellular component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
 TAS cellular component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
 TAS cellular component
GO:0000139 Golgi membrane
 TAS cellular component
GO:0000139 Golgi membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005765 lysosomal membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005887 integral component of pla
sma membrane
 NAS cellular component
GO:0005887 integral component of pla
sma membrane
 NAS cellular component
GO:0006955 immune response
 NAS biological process
GO:0006955 immune response
 NAS biological process
GO:0012507 ER to Golgi transport ves
icle membrane
 TAS cellular component
GO:0012507 ER to Golgi transport ves
icle membrane
 TAS cellular component
GO:0016020 membrane
 IDA cellular component
GO:0019886 antigen processing and pr
esentation of exogenous p
eptide antigen via MHC cl
ass II
 TAS biological process
GO:0030658 transport vesicle membran
e
 TAS cellular component
GO:0030658 transport vesicle membran
e
 TAS cellular component
GO:0030666 endocytic vesicle membran
e
 TAS cellular component
GO:0030666 endocytic vesicle membran
e
 TAS cellular component
GO:0030669 clathrin-coated endocytic
vesicle membrane
 TAS cellular component
GO:0030669 clathrin-coated endocytic
vesicle membrane
 TAS cellular component
GO:0031295 T cell costimulation
 TAS biological process
GO:0032395 MHC class II receptor act
ivity
 TAS molecular function
GO:0032395 MHC class II receptor act
ivity
 NAS molecular function
GO:0032395 MHC class II receptor act
ivity
 NAS molecular function
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0032588 trans-Golgi network membr
ane
 TAS cellular component
GO:0042605 peptide antigen binding
 ISS molecular function
GO:0042613 MHC class II protein comp
lex
 ISS cellular component
GO:0050852 T cell receptor signaling
pathway
 TAS biological process
GO:0060333 interferon-gamma-mediated
signaling pathway
 TAS biological process
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
 TAS cellular component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
 TAS cellular component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
 TAS cellular component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
 TAS cellular component

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa00565Ether lipid metabolism
hsa00591Linoleic acid metabolism
hsa00360Phenylalanine metabolism
hsa00531Glycosaminoglycan degradation
hsa00511Other glycan degradation
hsa00760Nicotinate and nicotinamide metabolism
hsa00980Metabolism of xenobiotics by cytochrome P450
hsa04015Rap1 signaling pathway
hsa04015Rap1 signaling pathway
hsa04015Rap1 signaling pathway
hsa04015Rap1 signaling pathway
hsa04015Rap1 signaling pathway
hsa04010MAPK signaling pathway
hsa04010MAPK signaling pathway
hsa04010MAPK signaling pathway
hsa04010MAPK signaling pathway
hsa04310Wnt signaling pathway
hsa04310Wnt signaling pathway
hsa04340Hedgehog signaling pathway
hsa04390Hippo signaling pathway
hsa04392Hippo signaling pathway - multiple species
hsa04371Apelin signaling pathway
hsa04630JAK-STAT signaling pathway
hsa04630JAK-STAT signaling pathway
hsa04514Cell adhesion molecules
hsa04145Phagosome
hsa04640Hematopoietic cell lineage
hsa04612Antigen processing and presentation
hsa04658Th1 and Th2 cell differentiation
hsa04659Th17 cell differentiation
hsa04672Intestinal immune network for IgA production
hsa05310Asthma
hsa05322Systemic lupus erythematosus
hsa05323Rheumatoid arthritis
hsa05320Autoimmune thyroid disease
hsa05321Inflammatory bowel disease
hsa05330Allograft rejection
hsa05332Graft-versus-host disease
hsa05416Viral myocarditis
hsa04940Type I diabetes mellitus
hsa05150Staphylococcus aureus infection
hsa05152Tuberculosis
hsa05166Human T-cell leukemia virus 1 infection
hsa05164Influenza A
hsa05168Herpes simplex virus 1 infection
hsa05169Epstein-Barr virus infection
hsa05145Toxoplasmosis
hsa05140Leishmaniasis

Diseases

Expand All | Collapse All
Associated diseases References
Cancer GAD: 11097225
Cancer (adenocarcinoma) GAD: 20061363
Cancer (breast) GAD: 17484621
Cancer (cervical) GAD: 16386646
Cancer (colorectal) GAD: 19251712
Cancer (gastrointestinal) GAD: 11972882
Cancer (Hematologic) GAD: 19589487
Cancer (Hepatocellular) GAD: 11318984
Cancer (kidney) GAD: 12771724
Cancer (leukemia) GAD: 17387388
Cancer (lung) GAD: 15652424
Cancer (lymphoma) GAD: 15361135
Cancer (melanoma) GAD: 16101833
Cancer (nasopharyngeal) GAD: 12464650
Cancer (ovarian) GAD: 15935893
Cancer (Squamous cell) GAD: 18535809
Cancer (stomach) GAD: 15691311
Cancer (thyroid) GAD: 16430717
Colorectal cancer GAD: 19251712
Aortic aneurysm GAD: 16879749
Atherosclerosis GAD: 17906106
Atherothrombosis GAD: 15735807
Cardiomyopathy GAD: 16225776
Cardiovascular disease GAD: 16225776
Hypertension GAD: 12165956
Dilated cardiomyopathy KEGG: H00294
Brain infarction GAD: 11798899
Congenital abnormalities GAD: 15027205
Primary biliary cirrhosis GAD: 15713222
Hashimoto disease GAD: 19254248
Graves disease GAD: 11895223
Ophthalmia GAD: 11222331
Retinopathy GAD: 15019597
Sarcoidosis GAD: 17541908
Eosinophilia-Myalgia Syndrome GAD: 19790128
Addison's disease GAD: 19858318
Adrenal insufficiency GAD: 19890026
Allergy GAD: 15853900
Alopecia areata GAD: 16231148
Ankylosing spondylitis GAD: 12021150
Antiphospholipid syndrome GAD: 11157139
Arthritis GAD: 11981324
Asthma GAD: 12890388
Autoimmune diseases GAD: 11678832
Autoimmune diseases GAD: 12734793
Autoimmune diseases GAD: 11678832
Celiac disease GAD: 15496201
Inflammatory bowel disease GAD: 18758464
Juvenile arthritis GAD: 15703957
Sjogren's syndrome GAD: 12648281
Ulcerative colitis GAD: 19122664
Multiple sclerosis GAD: 15471368
Rheumatoid arthritis GAD: 15077289
Psoriasis GAD: 15009387
Inflammatory myopathies GAD: 11972875
Systemic lupus erythematosus (SLE) GAD: 18569076
Systemic lupus erythematosus (SLE) GAD: 11997714
Chronic ulcerative colitis GAD: 15307871
Celiac disease GAD: 19474744
Crohn's disease GAD: 15164528
Bullous Pemphigoid GAD: 12139680
Biliary atresia GAD: 12100571
Diabetes KEGG: H00408
Diabetes GAD: 12666382
Osteoarthritis GAD: 12594107
Osteoporosis GAD: 17498269
Ankylosing spondylitis GAD: 19565552
Myositis GAD: 16507114
Juvenile dermatomyositis GAD: 1783570
Dermatomyositis GAD: 18930994
Rheumatic diseases GAD: 19407364
Encephalomyelitis GAD: 19722042
Vogt-Koyanagi-Harada syndrome GAD: 11835809
Myasthenia gravis GAD: 15003812
Guillain-Barre syndrome GAD: 11776098
Parkinson disease GAD: 12944708
Chronic fatigue syndrome GAD: 16049290
Schizophrenia GAD: 11920855
Psychological disorders GAD: 11477477
Abortion GAD: 20210919
Congenital adrenal hyperplasia GAD: 15027205
Endometriosis GAD: 11718025
Pelvic inflammatory disease (PID) GAD: 15107633
Preeclampsia GAD: 12443029
Recurrent pregnancy loss (RPL) GAD: 15993714
Recurrent pregnancy loss (RPL) GAD: 15993714
Tubal factor infertility GAD: 12151439
Tubal factor infertility GAD: 12151439
Recurrent pregnancy loss (RPL) INFBASE: 8579756
Polycystic ovary syndrome (PCOS) INFBASE: 1471701
Premature ovarian failure (POF) INFBASE: 10084595
Recurrent pregnancy loss (RPL) INFBASE: 8579756
Immunoinfertility MIK: 10708242
Spermatogenesis defects MIK: 10611211
Unexplained azoospermia MIK: 26662397
Spermatogenesis defects MIK: 26662397
Lung disease GAD: 12189808
Nasal polyposis GAD: 17305280
Keloids GAD: 18562179
Systemic Scleroderma GAD: 19790132
Systemic sclerosis GAD: 19596691
Vitiligo GAD: 16409268
Dermatitis GAD: 16836882
Pemphigus vulgaris GAD: 18780165
Urticaria GAD: 20559009
Anaphylactoid purpura GAD: 11836690
Bronchiectasis GAD: 18241227
Calcinosis GAD: 19479859
Respiratory papillomatosis GAD: 14623754
Renal disease GAD: 11082516
Nephropathy GAD: 12651073
Spermatogenic defects MIK: 31037746
Azoospermia MIK: 26662397

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
10611211 Spermatoge
nesis and
male gamet
e function

Male infertility
Show abstract
26662397 Unexplaine
d azoosper
mia
 Copy number variations
33 (11 patients
with chromosom
e abnormalities
, 16 males with
azoospermia)
 Male infertility
Show abstract
29713536 Sperm numb
er defects
 dup6p21.32

Male infertility NGS
 Show abstract
31037746 Spermatoge
nic defect
s
16 (1 control,
15 cases)
 Male infertility GSE6023 analyzed using GEO2R
 Show abstract