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

Gene

• Entrez ID: 3117
• Gene name: Major histocompatibility complex, class II, DQ alpha 1
• Gene symbol: HLA-DQA1
• Synonyms (NCBI Gene): CELIAC1, DQ-A1, DQA1, HLA-DQA, HLA-DQA1*, HLA-DQB1
• Chromosome: 6
• Chromosome location: 6p21.32
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023357	hsa-miR-122-5p	Microarray	17612493
MIRT723077	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT723076	hsa-miR-4673	HITS-CLIP	19536157
MIRT723075	hsa-miR-6798-3p	HITS-CLIP	19536157
MIRT723077	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT723076	hsa-miR-4673	HITS-CLIP	19536157
MIRT723075	hsa-miR-6798-3p	HITS-CLIP	19536157
MIRT2243280	hsa-miR-1270	CLIP-seq
MIRT2243281	hsa-miR-137	CLIP-seq
MIRT2243282	hsa-miR-2115	CLIP-seq
MIRT2243283	hsa-miR-3189-3p	CLIP-seq
MIRT2243284	hsa-miR-3977	CLIP-seq
MIRT2243285	hsa-miR-432	CLIP-seq
MIRT2243286	hsa-miR-4531	CLIP-seq
MIRT2243287	hsa-miR-4683	CLIP-seq
MIRT2243288	hsa-miR-502-5p	CLIP-seq
MIRT2243289	hsa-miR-516a-3p	CLIP-seq
MIRT2243290	hsa-miR-620	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ILF3	Unknown	7651394
RFX5	Unknown	11258423
RFXANK	Unknown	11258423
RFXAP	Unknown	11258423

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0002250	Process	Adaptive immune response	IEA
GO:0005515	Function	Protein binding	IPI	14769912, 17629515, 29997244
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	NAS	3584986, 6415485
GO:0006955	Process	Immune response	NAS	3584986, 6415485
GO:0010008	Component	Endosome membrane	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0030658	Component	Transport vesicle membrane	TAS
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0032395	Function	MHC class II receptor activity	NAS	3584986, 6415485
GO:0032395	Function	MHC class II receptor activity	TAS	2300572
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0042605	Function	Peptide antigen binding	ISS	20356827
GO:0042613	Component	MHC class II protein complex	ISS	20356827
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	TAS
GO:0071556	Component	Integral component of lumenal side of endoplasmic reticulum membrane	TAS

Other IDs

• MIM: 146880
• HGNC: 4942
• e!Ensembl: ENSG00000196735

Protein

• UniProt ID: P01909
• Protein name: HLA class II histocompatibility antigen, DQ alpha 1 chain (DC-1 alpha chain) (DC-alpha) (HLA-DCA) (MHC class II DQA1)
• Protein 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. T
• PDB: 1JK8, 1S9V, 1UVQ, 2NNA, 4GG6, 4OZF, 4OZG, 4OZH, 4OZI, 5KSA, 5KSB, 5KSU, 5KSV, 6MFF, 6MFG, 6U3M, 6U3N, 6XP6, 7SG0, 7SG1, 7SG2, 8VSP, 8W83, 8W84, 8W85, 8W86
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00993	MHC_II_alpha	29 → 108	Class II histocompatibility antigen, alpha domain	Domain
  PF07654	C1-set	114 → 195	Immunoglobulin C1-set domain	Domain

• Sequence:

  MILNKALMLGALALTTVMSPCGGEDIVADHVASYGVNLYQSYGPSGQYTHEFDGDEQFYV
  DLGRKETVWCLPVLRQFRFDPQFALTNIAVLKHNLNSLIKRSNSTAATNEVPEVTVFSKS
  PVTLGQPNILICLVDNIFPPVVNITWLSNGHSVTEGVSETSFLSKSDHSFFKISYLTLLP
  SAEESYDCKVEHWGLDKPLLKHWEPEIPAPMSELTETVVCALGLSVGLVGIVVGTVFIIR
  GLRSVGASRHQGPL

• Sequence length: 254

Pathways

KEGG:

Phagosome
Cell adhesion molecules
Antigen processing and presentation
Hematopoietic cell lineage
Th1 and Th2 cell differentiation
Th17 cell differentiation
Intestinal immune network for IgA production
Type I diabetes mellitus
Leishmaniasis
Toxoplasmosis
Staphylococcus aureus infection
Tuberculosis
Influenza A
Human T-cell leukemia virus 1 infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Asthma
Autoimmune thyroid disease
Inflammatory bowel disease
Systemic lupus erythematosus
Rheumatoid arthritis
Allograft rejection
Graft-versus-host disease
Viral myocarditis

Reactome:

Downstream TCR signaling
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
MHC class II antigen presentation
PD-1 signaling
Interferon gamma signaling

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia, Macrocytic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	26829030
Cervical cancer	cervical cancer	rs28934571, rs121913482, rs121913483	23482656
Dermatitis	Dermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	16836882
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Ketosis-Prone, Diabetes Mellitus, Sudden-Onset, NON RARE IN EUROPE: Diabetes mellitus type 1	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	17554300, 18978792, 26168013, 17632545
Immunoglobulin a deficiency	Immunoglobulin A deficiency (disorder)	rs72553883, rs72553882, rs144718007	27723758
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	28067908, 28008999
Lung carcinoma	Squamous cell carcinoma of lung, Carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	28604730
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	19836008
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	22899653, 19654303
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	17660530, 27386562, 20453840
Myasthenia gravis	Myasthenia Gravis, Adult-onset myasthenia gravis	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262	23055271
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Polyneuropathy	Polyneuropathy	rs1597597437
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	17804836, 26272072, 19503088, 21653640, 21156761
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	19571809, 28540026, 21926974

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma, Childhood asthma		30929738, 23181788, 27130862, 29273806, 31036433, 10792356, 29785011, 31619474, 21150878, 27182965	ClinVar
Celiac disease	Celiac Disease, NON RARE IN EUROPE: Celiac disease		17558408, 20190752	ClinVar
Mental depression	Depressive disorder			ClinVar
Pancreatitis	Pancreatitis		25217962	ClinVar
Sarcoidosis	Sarcoidosis		22952805, 26651848	ClinVar