Entity Details

Primary name DRB1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP01911
EntryNameDRB1_HUMAN
FullNameHLA class II histocompatibility antigen, DRB1 beta chain
TaxID9606
Evidenceevidence at protein level
Length266
SequenceStatuscomplete
DateCreated1986-07-21
DateModified2021-06-02

Ontological Relatives

GenesHLA-DRB1

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

Subcellular Location

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Subcellular Location
Autolysosome membrane
Cell membrane
Endoplasmic reticulum membrane
Late endosome membrane
Lysosome membrane

Domains

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DomainNameCategoryType
IPR000353 MHC class II, beta chain, N-terminalDomainDomain
IPR003006 Immunoglobulin/major histocompatibility complex, conserved siteSiteConserved site
IPR003597 Immunoglobulin C1-setDomainDomain
IPR007110 Immunoglobulin-like domainDomainDomain
IPR011162 MHC classes I/II-like antigen recognition proteinFamilyHomologous superfamily
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR014745 MHC class II, alpha/beta chain, N-terminalFamilyHomologous superfamily
IPR036179 Immunoglobulin-like domain superfamilyFamilyHomologous superfamily

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.

Drugs

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DrugNameSourceType
DB05121 1D09C3Drugbankbiotech
DB05259 GlatiramerDrugbankbiotech
DB11294 Coccidioides immitis spheruleDrugbankbiotech