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Gene id

3117

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (32637402: 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 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]

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:	IPR032431 IPR007110 IPR013783 IPR003006 IPR003597 IPR011162 IPR014745 IPR001003
Prosite:	PS50835 PS00290
Pfam:	PF07654 PF16196 PF00993
PDB:	1JK8 1NBN 1S9V 1UVQ 2NNA 4GG6 4OZF 4OZG 4OZH 4OZI 5KSA 5KSB
PDBsum:	1JK8 1NBN 1S9V 1UVQ 2NNA 4GG6 4OZF 4OZG 4OZH 4OZI 5KSA 5KSB

Other Databases

GeneCards: HLA-DQA1; Malacards: HLA-DQA1

Gene ontology

GO accession	Term name	Evidence code	Go 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

hsa05166  HTLV-I infection
hsa05152  Tuberculosis
hsa05168  Herpes simplex infection
hsa05169  Epstein-Barr virus infection
hsa05164  Influenza A
hsa05145  Toxoplasmosis
hsa04659  Th17 cell differentiation
hsa04514  Cell adhesion molecules
hsa04145  Phagosome
hsa05323  Rheumatoid arthritis
hsa05321  Inflammatory bowel disease
hsa04640  Hematopoietic cell lineage
hsa04658  Th1 and Th2 cell differentiation
hsa05140  Leishmaniasis
hsa04612  Antigen processing and presentation
hsa05332  Graft-versus-host disease
hsa05320  Autoimmune thyroid disease
hsa05416  Viral myocarditis
hsa05322  Systemic lupus erythematosus
hsa05330  Allograft rejection
hsa04940  Type I diabetes mellitus
hsa04672  Intestinal immune network for IgA production
hsa05150  Staphylococcus aureus infection
hsa05310  Asthma

Diseases

Associated diseases	References
Addison's disease	PMID: 16849401
Adrenal insufficiency	PMID: 19890026
Allergic rhinitis	PMID: 14990915
Allergies	PMID: 15853900
Ankylosing spondylitis	PMID: 12021150
Antiphospholipid syndrome	PMID: 11246532
Arthritis	PMID: 11981324
Asthma	PMID: 12890388
Autoimmune diseases	PMID: 19210322
Biliary atresia	PMID: 12100571
Calcinosis	PMID: 19479859
Cancer	PMID: 11097225
Cardiomyopathy	PMID: 16225776
Celiac disease	PMID: 15496201
Cholangitis	PMID: 17257319
Chronic fatigue syndrome	PMID: 16049290
Colorectal cancer	PMID: 19251712
Congenital adrenal hyperplasia	PMID: 15027205
Dermatitis	PMID: 16836882
Dermatomyositis	PMID: 18930994
Diabetes	KEGG: H00408, PMID: 18978792
Diabetic retinopathy	PMID: 15019597
Dilated cardiomyopathy	KEGG: H00294
Endometriosis	PMID: 11718025
Eosinophilia Myalgia Syndrome	PMID: 19790128
Glomerulonephritis	PMID: 21323541
Graves disease	KEGG: H00082
Guillain-Barre syndrome	PMID: 11776098
Hashimoto's thyroiditis	KEGG: H00081
Immune infertility	PMID: 21485073
Juvenile arthritis	PMID: 15703957
Juvenile dermatomyositis	PMID: 1783570
Male gamete function	PMID: 10611211
Multiple sclerosis	PMID: 15613143
Myasthenia gravis	PMID: 14700596
Myositis	PMID: 16507114
Nasal polyposis	PMID: 16890076
Osteoarthritis	PMID: 12594107
Osteoporosis	PMID: 17498269
Pelvic inflammatory disease (PID)	PMID: 15107633
Pemphigus	PMID: 18780165
Polycystic ovary syndrome (PCOS)	PMID: 1471701
Preeclampsia	PMID: 18593440
Adenomyosis	INFBASE11836687
Endometriosis	INFBASE11718025
Premature ovarian failure(POF)	PMID: 10084595
Primary biliary cirrhosis	PMID: 11171832
Recurrent miscarriage	PMID: 8579756
Recurrent miscarriage	PMID: 15993714
Renal disease	PMID: 11082516
Rheumatic heart disease	PMID: 14602216
Rheumatoid arthritis	PMID: 15077289
Schizophrenia	PMID: 11920855
Sjogren's syndrome	PMID: 12648281
Systemic lupus erythematosus	PMID: 11997714, KEGG: H00080
Systemic sclerosis	KEGG: H01492
Tubal factor infertility	PMID: 12151439
Vogt-Koyanagi-Harada syndrome	PMID: 11835809

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
11718025	Endometrio sis	HLA-DQA1 * 0401, HLA-DQA1 * 0301		95 (51 patients with endometri osis, 44 contro l women who had laparoscopic s terilization an d without endom etriosis)		HLA-DQA1	Show abstract
11836687	Endometrio sis	HLA-DQA10301 and 0401		140 (51 cases o f endometriosis , 45 cases of a denomyosis, 44 normal individu als as the cont rol)			Show abstract