HLA-DRB1 (major histocompatibility complex, class II, DR beta 1)

Gene

• Entrez ID: 3123
• Gene name: Major histocompatibility complex, class II, DR beta 1
• Gene symbol: HLA-DRB1
• Synonyms (NCBI Gene): DRB1, HLA-DR1B, HLA-DRB, SS1
• Chromosome: 6
• Chromosome location: 6p21.32
• 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 derive

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT646417	hsa-miR-5692a	HITS-CLIP	23824327
MIRT646416	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT646415	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT646414	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT646413	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT646412	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT646411	hsa-miR-3148	HITS-CLIP	23824327
MIRT646410	hsa-miR-6124	HITS-CLIP	23824327
MIRT646409	hsa-miR-5696	HITS-CLIP	23824327
MIRT646408	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT646407	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT646406	hsa-miR-623	HITS-CLIP	23824327
MIRT646405	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT646404	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT646403	hsa-miR-3978	HITS-CLIP	23824327
MIRT646402	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646401	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646400	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT646417	hsa-miR-5692a	HITS-CLIP	23824327
MIRT646416	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT646415	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT646414	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT646413	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT646412	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT646411	hsa-miR-3148	HITS-CLIP	23824327
MIRT646410	hsa-miR-6124	HITS-CLIP	23824327
MIRT646409	hsa-miR-5696	HITS-CLIP	23824327
MIRT646408	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT646407	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT646406	hsa-miR-623	HITS-CLIP	23824327
MIRT646405	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT646404	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT646403	hsa-miR-3978	HITS-CLIP	23824327
MIRT646402	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646401	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646400	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1048458	hsa-miR-4793-5p	CLIP-seq
MIRT1048459	hsa-miR-518a-5p	CLIP-seq
MIRT1048460	hsa-miR-527	CLIP-seq
MIRT2243303	hsa-miR-486-3p	CLIP-seq
MIRT1048459	hsa-miR-518a-5p	CLIP-seq
MIRT1048460	hsa-miR-527	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CIITA	Unknown	10886240
ILF3	Unknown	7651394
RFX5	Unknown	11258423;18723135
RFXANK	Unknown	11258423
RFXAP	Unknown	11258423;18723135
VDR	Unknown	19956544

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001772	Component	Immunological synapse	IDA	15322540, 29884618
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	IDA	29884618
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	24942581
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002437	Process	Inflammatory response to antigenic stimulus	IDA	15795121
GO:0002469	Process	Myeloid dendritic cell antigen processing and presentation	IDA	29884618, 30282837
GO:0002491	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class II	IDA	15322540
GO:0002503	Process	Peptide antigen assembly with MHC class II protein complex	IBA
GO:0002503	Process	Peptide antigen assembly with MHC class II protein complex	IDA	1448172, 7606781, 22733780
GO:0002504	Process	Antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	IEA
GO:0002842	Process	Positive regulation of T cell mediated immune response to tumor cell	IDA	30282837
GO:0002862	Process	Negative regulation of inflammatory response to antigenic stimulus	IDA	18039812
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	1281771
GO:0005515	Function	Protein binding	IPI	9354468, 21081917, 27114505
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	9075930, 18305173
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005882	Component	Intermediate filament	TAS	1281771
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	3456344, 10425186
GO:0006955	Process	Immune response	IDA	20543955, 21569485
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	IMP	22321387
GO:0006955	Process	Immune response	NAS	3129499
GO:0006955	Process	Immune response	TAS	10609818
GO:0006959	Process	Humoral immune response	IMP	17050030
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007165	Process	Signal transduction	IMP	15795121
GO:0007165	Process	Signal transduction	NAS	8775462
GO:0008544	Process	Epidermis development	TAS	7539673
GO:0009897	Component	External side of plasma membrane	IDA	20543955
GO:0009986	Component	Cell surface	IDA	21502329
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	3129499
GO:0016020	Component	Membrane	TAS	11144299
GO:0016045	Process	Detection of bacterium	IMP	22321387
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	IBA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	IDA	15265931, 32341563
GO:0023026	Function	MHC class II protein complex binding	HDA	20458337
GO:0023026	Function	MHC class II protein complex binding	IBA
GO:0030225	Process	Macrophage differentiation	IDA	24942581
GO:0030247	Function	Polysaccharide binding	IDA	21502329
GO:0030658	Component	Transport vesicle membrane	TAS
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031902	Component	Late endosome membrane	IBA
GO:0031902	Component	Late endosome membrane	IDA	9075930, 18305173
GO:0031902	Component	Late endosome membrane	IEA
GO:0032395	Function	MHC class II receptor activity	IDA	15795121
GO:0032395	Function	MHC class II receptor activity	NAS	3129499
GO:0032395	Function	MHC class II receptor activity	TAS	3456344, 10425186, 11144299
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0032653	Process	Regulation of interleukin-10 production	IDA	20543955
GO:0032673	Process	Regulation of interleukin-4 production	IDA	20543955
GO:0032689	Process	Negative regulation of type II interferon production	IMP	15795121
GO:0032831	Process	Positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation	IDA	28467828
GO:0033674	Process	Positive regulation of kinase activity	IDA	24942581
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	21484216
GO:0042088	Process	T-helper 1 type immune response	IMP	15795121
GO:0042130	Process	Negative regulation of T cell proliferation	IMP	15795121
GO:0042605	Function	Peptide antigen binding	IBA
GO:0042605	Function	Peptide antigen binding	IDA	1448172, 7477400, 7606781, 20543955, 21502329, 22733780
GO:0042608	Function	T cell receptor binding	IDA	29884618
GO:0042609	Function	CD4 receptor binding	IPI	24942581
GO:0042613	Component	MHC class II protein complex	IBA
GO:0042613	Component	MHC class II protein complex	IDA	1448172, 7477400, 7606781, 21502329, 22733780
GO:0042613	Component	MHC class II protein complex	IEA
GO:0042613	Component	MHC class II protein complex	IMP	9354468
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	24942581
GO:0043382	Process	Positive regulation of memory T cell differentiation	IDA	27591323
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	24942581
GO:0045622	Process	Regulation of T-helper cell differentiation	IDA	15322540
GO:0045657	Process	Positive regulation of monocyte differentiation	IDA	24942581
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	24942581
GO:0046598	Process	Positive regulation of viral entry into host cell	IDA	24942581
GO:0050778	Process	Positive regulation of immune response	IBA
GO:0050852	Process	T cell receptor signaling pathway	IDA	32341563
GO:0050870	Process	Positive regulation of T cell activation	IBA
GO:0051262	Process	Protein tetramerization	IDA	20543955
GO:0070062	Component	Extracellular exosome	HDA	12519789, 19199708, 20458337
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	24942581
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	TAS
GO:0120281	Component	Autolysosome membrane	IEA
GO:2000516	Process	Positive regulation of CD4-positive, alpha-beta T cell activation	IDA	15265931

Other IDs

• MIM: 142857
• HGNC: 4948
• e!Ensembl: ENSG00000196126

Protein

• UniProt ID: P01911
• Protein name: HLA class II histocompatibility antigen, DRB1 beta chain (Human leukocyte antigen DRB1) (HLA-DRB1)
• Protein function: A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T c
• PDB: 1A6A, 1AQD, 1BX2, 1D5M, 1D5X, 1D5Z, 1D6E, 1DLH, 1FYT, 1HXY, 1J8H, 1JWM, 1JWS, 1JWU, 1KG0, 1KLG, 1KLU, 1LO5, 1PYW, 1R5I, 1SEB, 1SJE, 1SJH, 1T5W, 1T5X, 1YMM, 2FSE, 2G9H, 2IAM, 2IAN, 2ICW, 2IPK, 2OJE, 2SEB, 2WBJ, 2XN9, 3L6F, 3O6F, 3PDO, 3PGC, 3PGD, 3QXA, 3QXD, 3S4S, 3S5L, 3T0E, 4AEN, 4AH2, 4C56, 4E41, 4FQX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00969	MHC_II_beta	42 → 116	Class II histocompatibility antigen, beta domain	Domain
  PF07654	C1-set	128 → 209	Immunoglobulin C1-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in professional APCs: monocyte/macrophages, dendritic cells and B cells (at protein level) (PubMed:19830726, PubMed:23783831, PubMed:31495665). Expressed in thymic epithelial cells (at protein level) (PubMed:23783831). {ECO:0
• Sequence:

  MVCLKLPGGSCMTALTVTLMVLSSPLALSGDTRPRFLWQPKRECHFFNGTERVRFLDRYF
  YNQEESVRFDSDVGEFRAVTELGRPDAEYWNSQKDILEQARAAVDTYCRHNYGVVESFTV
  QRRVQPKVTVYPSKTQPLQHHNLLVCSVSGFYPGSIEVRWFLNGQEEKAGMVSTGLIQNG
  DWTFQTLVMLETVPRSGEVYTCQVEHPSVTSPLTVEWRARSESAQSKMLSGVGGFVLGLL
  FLGAGLFIYFRNQKGHSGLQPTGFLS

• Sequence length: 266

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Multiple sclerosis, susceptibility to	Likely pathogenic	rs756519999	RCV003990402
Pulmonary artery atresia	Pathogenic	rs780784592	RCV002512187

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Likely benign	rs201278923	RCV005937100
Adrenocortical carcinoma, hereditary	Likely benign	rs35121789	RCV005936659
Cervical cancer	Likely benign	rs35121789	RCV005936660
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs201278923	RCV005937107
Clear cell carcinoma of kidney	Likely benign	rs35121789	RCV005936661
Colon adenocarcinoma	Likely benign	rs35121789, rs201278923	RCV005936656 RCV005937099
Colorectal cancer	Likely benign	rs35121789, rs201278923	RCV005936664 RCV005937104
Familial cancer of breast	Benign; Likely benign	rs707957, rs35121789, rs201278923	RCV005921519 RCV005936655 RCV005937098
Familial pancreatic carcinoma	Likely benign	rs35121789	RCV005936662
Hepatocellular carcinoma	Likely benign	rs35121789, rs201278923	RCV005936657 RCV005937101
HLA-DRB1-related disorder	Likely benign	rs201278923, rs769779152, rs778205073, rs749085224, rs1059351	RCV003979666 RCV003979826 RCV003978996 RCV003981871 RCV003982227
Lung cancer	Likely benign	rs201278923	RCV005937105
Malignant lymphoma, large B-cell, diffuse	Likely benign	rs35121789	RCV005936663
Malignant tumor of esophagus	Likely benign	rs201278923	RCV005937102
Nonpapillary renal cell carcinoma	Likely benign	rs35121789, rs201278923	RCV005936658 RCV005937103
Peritoneal Gliomatosis	Uncertain significance	rs16822805	RCV000852295
Uterine corpus endometrial carcinoma	Likely benign	rs201278923	RCV005937106