HLA-DRB1: Polycystic Ovarian Syndrome Database

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HLA-DRB1

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

HLA-DRB1

Aliases

DRB1, HLA-DR1B, HLA-DRB, SS1

Entrez Gene ID

3123

Gene Name

Major histocompatibility complex, class II, DR beta 1

Chromosomal Location

6p21.32

HGNC ID

HGNC:4948

Summary

HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), 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. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]

RefSeq DNA

NG_029921.1

RefSeq mRNA

NM_001243965.1, NM_002124.3, NM_001359193.1, NM_001359194.1

e!Ensembl

Gene	ENSG00000196126, ENSG00000206306, ENSG00000229074, ENSG00000228080, ENSG00000206240, ENSG00000236884
Transcript	ENST00000360004, ENST00000328980, ENST00000415796, ENST00000437784, ENST00000433975, ENST00000419393, ENST00000412634, ENST00000399450, ENST00000428566, ENST00000444645
Protein	ENSP00000353099, ENSP00000331343, ENSP00000412168, ENSP00000405960, ENSP00000392880, ENSP00000403458, ENSP00000408795, ENSP00000382378, ENSP00000392280, ENSP00000409322

Gene Ontology (GO)

Show/Hide all(9 )

GO ID	Ontology	Function	Evidence	Reference
GO:0002506	Biological process	Polysaccharide assembly with MHC class II protein complex	IDA	21502329
GO:0005765	Cellular component	Lysosomal membrane	IDA	18305173
GO:0009986	Cellular component	Cell surface	IDA	21502329
GO:0016020	Cellular component	Membrane	HDA	19946888
GO:0031902	Cellular component	Late endosome membrane	IDA	18305173
GO:0042613	Cellular component	MHC class II protein complex	IDA	21502329
GO:0070062	Cellular component	Extracellular exosome	HDA	12519789, 20458337
GO:0023026	Molecular function	MHC class II protein complex binding	HDA	20458337
GO:0042605	Molecular function	Peptide antigen binding	IDA	21502329

Protein Information

Protein Name

Major histocompatibility complex, class II, DR beta 1, major histocompatibility complex, class II, DR beta 1 precursor, HLA class II histocompatibility antigen, DR-1 beta chain, MHC class II HLA-DR beta 1 chain, human leucocyte antigen DRB1, lymphocyte antigen DRB1

Function

Refseq Proteins

NP_001230894.1, NP_002115.2, NP_001346122.1, NP_001346123.1

UniProt

P01911

PDB

1BX2, 1YMM, 2WBJ, 6CPO, 6CQQ, 1A6A

Pathways
	KEGG	Reactome
	Phagosome Cell adhesion molecules (CAMs) 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 (IBD) Systemic lupus erythematosus Rheumatoid arthritis Allograft rejection Graft-versus-host disease Viral myocarditis	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

Interactions

STRING	MINT	IntAct
	P04439	P04439

View interactions

Associated Diseases

Show/Hide all(10 )

Disease group	Disease Name	References
Digestive System Diseases
	Liver Diseases	21570397
	Colitis	25559196
	Hepatitis	21570397
	Pancreatitis	25217962
	Crohn Disease	25559196
	Enteritis	25559196
Ear Or Mastoid Diseases
Ear Or Mastoid Diseases	Meniere Disease	25397881, 12189399, 12542204, 12622783, 28787010, 17592398
Endocrine System Diseases
	Ketosis-prone diabetes	26168013
	Brittle diabetes	26168013
	Diabetes Mellitus	26168013
	PCOS	16533342
Immune System Diseases
	Sarcoidosis	14508706, 22952805
	Rheumatoid Arthritis	22286218, 19898480, 20453842
	Glomerulonephritis	11436868
	Autoimmune Diabetes	26168013
	Urticaria	20485159
	Lupus Erythematosus	11436868
	Libman-Sacks Disease	11436868
Neoplasms
	Lymphoma	22096508
	Multiple Sclerosis	25911099
	Oropharyngeal Cancer	27749845
	Reticulosarcoma	22096508
	Vulvar Cancer	12543794
Nervous System Diseases
	Eosinophilia-Myalgia Syndrome	19790128
	Cerebrovascular Disorders	21349441, 7886716
Psychiatric/Brain disorders
	Autistic Disorder	28540026, 8765331
	Narcolepsy	20711174
	Schizophrenia	16223876, 28540026
	Bipolar Disorder	23664640
	Obstructive Sleep Apnea	30015400, 26411274, 28875928
Renal Disorder
Renal Disorder	Nephrotic Syndrome	11095018, 6420562
Reproductive disorders
Reproductive disorders	Preeclampsia	27121092
Respiratory Tract Diseases
	Asthma	16792590
	Beryllium Disease	16272364, 17927685

References

PMID: 16533342

Studies on the human leukocyte antigens in patients with polycystic ovary syndrome in a Japanese population--possible susceptibility of HLA-A11 and -DRB1*0403 to patient population with polycystic ovary syndrome.

Kaibe Mamiko, Takakuwa Koichi, Murakawa Haruo, Ishii Keisuke, Tamura Masaki, Tanaka Kenichi

Department of Obstetrics and Gynecology, Niigata University School of Medicine, Niigata, Japan.

Am J Reprod Immunol. 2006 Apr;55(4):301-6. doi: 10.1111/j.1600-0897.2006.00369.x.

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