Entity Details

Primary name HLA-DRB1
Entity type gene
Source Source Link

Details

PrimaryID3123
RefseqGeneNG_029921
SymbolHLA-DRB1
Namemajor histocompatibility complex, class II, DR beta 1
Chromosome6
Location6p21.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-24
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsDRB1_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0001772 immunological synapse
GO:0001916 positive regulation of T cell mediated cytotoxicity
GO:0001934 positive regulation of protein phosphorylation
GO:0002437 inflammatory response to antigenic stimulus
GO:0002469 myeloid dendritic cell antigen processing and presentation
GO:0002491 antigen processing and presentation of endogenous peptide antigen via MHC class II
GO:0002503 peptide antigen assembly with MHC class II protein complex
GO:0002842 positive regulation of T cell mediated immune response to tumor cell
GO:0002862 negative regulation of inflammatory response to antigenic stimulus
GO:0005200 structural constituent of cytoskeleton
GO:0005615 extracellular space
GO:0005765 lysosomal membrane
GO:0005882 intermediate filament
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006955 immune response
GO:0006959 humoral immune response
GO:0007165 signal transduction
GO:0008544 epidermis development
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0012507 ER to Golgi transport vesicle membrane
GO:0016020 membrane
GO:0016045 detection of bacterium
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0023026 MHC class II protein complex binding
GO:0030225 macrophage differentiation
GO:0030247 polysaccharide binding
GO:0030658 transport vesicle membrane
GO:0030666 endocytic vesicle membrane
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0031902 late endosome membrane
GO:0032395 MHC class II receptor activity
GO:0032588 trans-Golgi network membrane
GO:0032653 regulation of interleukin-10 production
GO:0032673 regulation of interleukin-4 production
GO:0032689 negative regulation of interferon-gamma production
GO:0032831 positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation
GO:0033674 positive regulation of kinase activity
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus
GO:0042088 T-helper 1 type immune response
GO:0042130 negative regulation of T cell proliferation
GO:0042605 peptide antigen binding
GO:0042608 T cell receptor binding
GO:0042609 CD4 receptor binding
GO:0042613 MHC class II protein complex
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043382 positive regulation of memory T cell differentiation
GO:0043410 positive regulation of MAPK cascade
GO:0045622 regulation of T-helper cell differentiation
GO:0045657 positive regulation of monocyte differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046598 positive regulation of viral entry into host cell
GO:0050852 T cell receptor signaling pathway
GO:0051262 protein tetramerization
GO:0060333 interferon-gamma-mediated signaling pathway
GO:0070062 extracellular exosome
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane
GO:2000516 positive regulation of CD4-positive, alpha-beta T cell activation

Diseases

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Disease IDSourceNameDescription
180300 OMIMRheumatoid arthritis (RA)An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Disease susceptibility is associated with variants affecting the gene represented in this entry. Alleles DRB1*04:01; DRB1*04:04; DRB1*04:05; DRB1*04:08; DRB1*10:01; DRB1*01:01 and DRB1*01:02 are associated with increased susceptibility to rheumatoid arthritis, where affected individuals have antibodies to cyclic citrullinated peptide (anti-CCP-positive rheumatoid arthritis). Variations at position 40 in the peptide-binding cleft of these alleles explain most of the association to rheumatoid arthritis risk.
126200 OMIMMultiple sclerosis (MS)A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. Disease susceptibility is associated with variants affecting the gene represented in this entry. In populations of European descent, allele DRB1*15:01 has the strongest association with multiple sclerosis among all HLA class II alleles. Additional risk is associated with the strongly linked alleles DRB1*03:01 and DQB1*02:01 as well as with allele DRB1*13:03 (PubMed:21833088). It is postulated that bacterial or viral infection triggers the autoimmune MS. Microbial peptides having low affinity crossreactivity to MBP autoantigen, may stimulate autoreactive T cells via molecular mimicry and initiate the autoimmune inflammation (PubMed:19303388).
181000 OMIMSarcoidosis 1 (SS1)An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. Disease susceptibility is associated with variants affecting the gene represented in this entry. Alleles DRB1*04:02, DRB1*11:01 and DRB1*12:01 are associated with sarcoidosis. Allele DRB1*04:02 is significantly associated with specific sarcodosis phenotypes such as eye, parotid and salivary gland involvement.

Interactions

42 interactions

InteractorPartnerSourcesPublicationsLink
HLA-DRB1HLA-DRABioGRID, HPRD, InnateDB, IntAct, MINT11432818 11877480 21131964 26186194 28514442 7477400 9354468 details
HLA-DRB1HSPA1AIntAct17357109 24428437 details
HLA-DRB1HSPA1BIntAct17357109 24428437 details
HLA-DRB1TRIM21BioGRID18022694 details
HLA-DRB1MAGEA3BioGRID12393675 details
HLA-DRB1MARCHF1BioGRID23264739 details
HLA-DRB1ZDHHC17BioGRID24705354 details
HLA-DRB1DISC1IntAct31413325 details
HLA-DRB1VCPBioGRID18022694 details
HLA-DRB1CTAG1BHPRD11782380 details
HLA-DRB1CD9MINT23289620 details
HLA-DRB1MMEMINT23289620 details
HLA-DRB1MPPE1IntAct28514442 details
HLA-DRB1TCTN2IntAct28514442 details
HLA-DRB1BTN2A2BioGRID, IntAct28514442 details
HLA-DRB1EIF2AK3BioGRID, IntAct28514442 details
HLA-DRB1BPNT2BioGRID, IntAct28514442 details
HLA-DRB1CNNM1BioGRID, IntAct28514442 details
HLA-DRB1EMC6BioGRID, IntAct28514442 details
HLA-DRB1RNF149BioGRID, IntAct28514442 details
HLA-DRB1KIAA0319LBioGRID, IntAct28514442 details
HLA-DRB1HLA-DRB5BioGRID, IntAct26186194 28514442 details
HLA-DRB1SQLEBioGRID, IntAct28514442 details
HLA-DRB1PDE3BBioGRID, IntAct28514442 details
HLA-DRB1ITGA6BioGRID, IntAct28514442 details
HLA-DRB1HLA-DRB1BioGRID, IntAct26186194 28514442 details
HLA-DRB1SEMA4FBioGRID, IntAct28514442 details
HLA-DRB1CTDNEP1BioGRID, IntAct28514442 details
HLA-DRB1HLA-DRB3BioGRID, IntAct26186194 28514442 details
HLA-DRB1PKMBioGRID20458337 details
HLA-DRB1HSP90AA1BioGRID20458337 details
HLA-DRB1HSPA8BioGRID20458337 details
HLA-DRB1ANXA11BioGRID20458337 details
HLA-DRB1HSP90AB1BioGRID20458337 details
HLA-DRB1ATP1B1BioGRID20458337 details
HLA-DRB1YWHAEBioGRID20458337 details
HLA-DRB1MS4A1BioGRID20458337 details
HLA-DRB1PHOSPHO1BioGRID26186194 details
HLA-DRB1OGNBioGRID26186194 details
HLA-DRB1NAALADL2BioGRID26186194 details
HLA-DRB1FNDC4BioGRID26186194 details
HLA-DRB1CNDP1BioGRID26186194 details