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    HLA-DRB1 major histocompatibility complex, class II, DR beta 1 [ Homo sapiens (human) ]

    Gene ID: 3123, updated on 2-Nov-2024

    Summary

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    Official Symbol
    HLA-DRB1provided by HGNC
    Official Full Name
    major histocompatibility complex, class II, DR beta 1provided by HGNC
    Primary source
    HGNC:HGNC:4948
    See related
    Ensembl:ENSG00000196126 MIM:142857; AllianceGenome:HGNC:4948
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SS1; DRB1; HLA-DRB; HLA-DR1B
    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 or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
    Orthologs
    all
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    Genomic context

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    See HLA-DRB1 in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (32578775..32589848, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (32408987..32422414, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32546552..32557625, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene major histocompatibility complex, class II, DR beta 6 (pseudogene) Neighboring gene RNA, U1 small nuclear 152, pseudogene Neighboring gene HLA-DQA1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24360 Neighboring gene major histocompatibility complex, class II, DQ alpha 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:32623606-32624294 Neighboring gene HLA-DQB1 antisense RNA 1 Neighboring gene major histocompatibility complex, class II, DQ beta 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. HLA-DQB1 genotyping in a family with narcolepsy-cataplexy. Pedrazzoli M, et al. Brain Res, 2007 Aug 24. PMID 17658488
    2. Parental transmission of HLA-DRB1*15 in multiple sclerosis. Ramagopalan SV, et al. Hum Genet, 2008 Jan. PMID 17972102
    3. Decline in the frequencies of Borrelia burgdorferi OspA161 175-specific T cells after antibiotic therapy in HLA-DRB1*0401-positive patients with antibiotic-responsive or antibiotic-refractory lyme arthritis. Kannian P, et al. J Immunol, 2007 Nov 1. PMID 17947711
    4. Evidence for human leukocyte antigen heterozygote advantage against hepatitis C virus infection. Hraber P, et al. Hepatology, 2007 Dec. PMID 17935228
    5. Association between radiographic severity of rheumatoid arthritis and shared epitope alleles: differing mechanisms of susceptibility and protection. Mewar D, et al. Ann Rheum Dis, 2008 Jul. PMID 17901090

    See all (1000) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of HLA-DRB1 alleles with status of antibodies to hepatitis B surface and e antigen.
      Title: Association of HLA-DRB1 alleles with status of antibodies to hepatitis B surface and e antigen.
    2. The impact of HLA-DRB1 alleles in a Hellenic, Pediatric-Onset Multiple Sclerosis cohort: Implications on clinical and neuroimaging profile.
      Title: The impact of HLA-DRB1 alleles in a Hellenic, Pediatric-Onset Multiple Sclerosis cohort: Implications on clinical and neuroimaging profile.
    3. There is no evidence of pancreatic autroimmunity among patients with MS.
      Title: No evidence of pancreatic autoimmunity among patients with multiple sclerosis.
    4. Human Leukocyte Antigen Alleles (HLA-A, HLA-B, and HLA-DRB1) are associated with Acute Lymphoblastic Leukemia (ALL) : A Case-Control Study in a Sample of Iranian Population.
      Title: Human Leukocyte Antigen Alleles (HLA-A, HLA-B, and HLA-DRB1) are associated with Acute Lymphoblastic Leukemia (ALL) : A Case-Control Study in a Sample of Iranian Population.
    5. Epistasis Between HLA-DRB1*16:02:01 and SLC16A11 T-C-G-T-T Reduces Odds for Type 2 Diabetes in Southwest American Indians.
      Title: Epistasis Between HLA-DRB1*16:02:01 and SLC16A11 T-C-G-T-T Reduces Odds for Type 2 Diabetes in Southwest American Indians.
    6. Impact of human leucocyte antigen class II polymorphism on anti-red blood cell antibody development: Correlations and indications.
      Title: Impact of human leucocyte antigen class II polymorphism on anti-red blood cell antibody development: Correlations and indications.
    7. Polymorphic Analysis of Genes PADI4 (rs2240340, rs1748033) and HLA-DRB1 (rs2395175) in Arthritis Patients in Pakistani Population.
      Title: Polymorphic Analysis of Genes PADI4 (rs2240340, rs1748033) and HLA-DRB1 (rs2395175) in Arthritis Patients in Pakistani Population.
    8. The Impact of Rheumatoid Arthritis on First Nations and How We Can Work With Communities to Prevent It.
      Title: The Impact of Rheumatoid Arthritis on First Nations and How We Can Work With Communities to Prevent It.
    9. Influence of HLA-A, -B, -DR Polymorphisms on the Severity of COVID-19: A Case-Control Study in the Iranian Population.
      Title: Influence of HLA-A, -B, -DR Polymorphisms on the Severity of COVID-19: A Case-Control Study in the Iranian Population.
    10. Investigating Associations between HLA-DR Genotype, H. pylori Infection, and Anti-CagA IgA Seropositivity in a Turkish Gastritis Cohort.
      Title: Investigating Associations between HLA-DR Genotype, H. pylori Infection, and Anti-CagA IgA Seropositivity in a Turkish Gastritis Cohort.
    Submit: New GeneRIF Correction See all GeneRIFs (1292)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Multiple sclerosis, susceptibility to
    MedGen: C1868685 OMIM: 126200 GeneReviews: Not available
    		not available
    Sarcoidosis, susceptibility to, 1
    MedGen: C2697310 OMIM: 181000 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
    EBI GWAS Catalog
    A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
    EBI GWAS Catalog
    A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.
    EBI GWAS Catalog
    A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
    EBI GWAS Catalog
    A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.
    EBI GWAS Catalog
    A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.
    EBI GWAS Catalog
    A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.
    EBI GWAS Catalog
    A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).
    EBI GWAS Catalog
    A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32.
    EBI GWAS Catalog
    A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury.
    EBI GWAS Catalog
    A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.
    EBI GWAS Catalog
    Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
    EBI GWAS Catalog
    Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.
    EBI GWAS Catalog
    Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
    EBI GWAS Catalog
    Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis.
    EBI GWAS Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.
    EBI GWAS Catalog
    Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
    EBI GWAS Catalog
    Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
    EBI GWAS Catalog
    Genome-wide association study identifies susceptibility loci for IgA nephropathy.
    EBI GWAS Catalog
    Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
    EBI GWAS Catalog
    Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
    EBI GWAS Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    EBI GWAS Catalog
    Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.
    EBI GWAS Catalog
    Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.
    EBI GWAS Catalog
    Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.
    EBI GWAS Catalog
    Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study of susceptibility loci for cervical cancer.
    EBI GWAS Catalog
    Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
    EBI GWAS Catalog
    GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers.
    EBI GWAS Catalog
    HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog
    Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms.
    EBI GWAS Catalog
    Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
    EBI GWAS Catalog
    Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
    EBI GWAS Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog
    Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
    EBI GWAS Catalog
    Novel associations for hypothyroidism include known autoimmune risk loci.
    EBI GWAS Catalog
    Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.
    EBI GWAS Catalog
    Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-β therapy in multiple sclerosis patients.
    EBI GWAS Catalog
    Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.
    EBI GWAS Catalog
    TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
    EBI GWAS Catalog
    Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.
    EBI GWAS Catalog
    Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
    EBI GWAS Catalog
    Variation at HLA-DRB1 is associated with resistance to enteric fever.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Clinical trophoblast microparticle samples from HIV-1 infected patients upregulates HLA-DR (MHC-II) expression on dendritic cells upon exposure PubMed
    HIV-1 infection upregulates HLA-DR (MHC-II) and CD38 on CD4+ and CD8+ T cells in clinical, patient samples PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env CD4-mediated endocytosis of HIV-1 gp120 results in MHC-II (HLA-DR) presentation to CD4+ T cells PubMed
    env Inhibition of CpG-B-induced maturation of plasmacytoid dendritic cells by HIV-1 gp120 results in downregulation of CD40, CD83, CCR7, and HLA-DR expression PubMed
    env CD4+ T cells infected with CCR5-tropic HIV-1 have significantly higher levels of activation-marker expression (e.g. CD25, CD71 and HLA-DR) than CD4+ T lymphocytes infected with CXCR4-tropic HIV-1 PubMed
    env Amino acid residues 42-49 in the V1 region of CD4 are involved in the interaction between HIV-1 gp120 and class II major histocompatibility complex molecules PubMed
    env Genetic variability in HIV-1 gp120 affects its interactions with HLA-DR molecules and T cell receptor PubMed
    env HIV envelope protein gp120 can specifically inhibit CD4-dependent class II MHC-restricted T cell response to Ag PubMed
    Envelope surface glycoprotein gp160, precursor env Antibodies against cell surface molecules LFA-1, ICAM-1, HLA-DR, and CD28 inhibit the HIV-1 gp160-induced B cell differentiation response; gp160 also induces IL-6R and CD23 molecule expression on B cells PubMed
    env Processing of HIV-1 gp160 to gp120 and gp41 is necessary for the association of HIV-1 envelope glycoproteins with class II MHC PubMed
    Envelope transmembrane glycoprotein gp41 env Soluble HIV-1 gp41 enhancement effects on MHC class I and II antigen expression can be inhibited by soluble gp41-binding proteins of 45, 49 and 62 kD from human B cells PubMed
    env Soluble HIV-1 gp41 can selectively enhance MHC class I and II expression on human B cells, but does not increase expression of other cell surface antigens such as CD21 and CD54 (ICAM-1) PubMed
    env A 43-amino-acid sequence between amino acids 708 and 750 in the HIV-1 gp41(TM) cytoplasmic tail is required for efficient incorporation of HLA class II proteins into virions PubMed
    Nef nef HIV-1 Nef cloned from subjects with early/acute progressive HIV infection downregulates HLA-DR in 721.221 cells to a greater extent relative to HIV-1 Nef cloned from subjects with chronic progressive infection PubMed
    nef HIV-1 Nef impairs IL-4/GM-CSF-stimulated THP-1 differentiation towards immature DCs, which leads to the lower levels of CD11C, CD40, and HLA-DR protein expression from the cell surface PubMed
    nef Nef-triggered MHCII endocytosis requires Rab5 activity and lyst function, whereas lysosomal trafficking of internalized MHCII molecules requires Rab7 activity PubMed
    nef HIV-1 Nef-pulsed mDCs downregulate HLA-DR expression and upregulate CD25 and CCR7 expression in NK cells PubMed
    nef Four large regions (residues 1-36, 66-97, 117-147, and 182-205) of HIV-1 Nef bind efficiently to eight HLA-DR molecules PubMed
    nef Monoclonal antibodies to the cell surface molecule human lymphocyte antigen-DR inhibit the Nef-induced B-cell differentiation response, suggesting an interaction between Nef and human lymphocyte antigen-DR PubMed
    Pr55(Gag) gag The number of HIV-1 Gag epitopes recognized by HLA-DRB1 are significantly different between HIV-1 infected non-progressors and progressors PubMed
    gag Expression of CD80, CD83, CD86, and HLA-DR molecules are significantly downregulated in mature dendritic cells after transduction with ubiquitinated Gag compared to unubiquitinated Gag constructs PubMed
    gag Two peptides of the CA domain of HIV-1 Gag, VDRFYKTLRAEQASQ and DRFYKLTRAEQASQ, are presented on MHC II molecules of dendritic cells and have similar sensitivity for antigen-specific T cells PubMed
    gag Expression of MARCH-8 inhibits HLA-DR-mediated enhancement of mature Gag products internalization by downregulating cell surface HLA-DR PubMed
    gag The Gag late-budding domain PTAP motif and the cytosolic tails of the HLA-DR alpha and beta chains are required for HLA-DR-mediated Gag accumulation in late endosomal/multivesicular bodies (LE/MVB) PubMed
    gag Dynamin-dependent endocytosis is required for intracellular accumulation of HIV-1 Gag in presence of HLA-DR PubMed
    gag HIV-1 Gag virus-like particle-induced monocyte activation is shown by upregulation of molecules involved in antigen presentation (MHC II, CD80, CD86) and cell adhesion (CD54) PubMed
    gag HIV-1 Gag virus-like particles efficiently activate human monocyte-derived dendritic cells (MDDC) and induce MDDC maturation with an associated increase in the surface expression of CD80, CD86 and MHC classes I and II PubMed
    gag Human Leukocyte Antigen DR (HLA-DR), Major Histocompatibility Complex class II molecules (MHC-II) induce a relocation of Gag to late endosomal/multivesicular bodies (LE/MVB) and increase the accumulation of viral particles assembling intracellularly PubMed
    gag HIV-1 Gag expression is able to induce HLA-DR cell-surface localization in H78-C10.0 cells PubMed
    gag In human macrophages, HIV-1 Gag proteins co-localize with MHC II (HLA-DR), CD63, and Lamp1 in MHC II compartments PubMed
    Tat tat Treatment of PBMCs with HIV-1 Tat significantly enhances the generation of monocytic myeloid-derived suppressor cells expressing no or very low levels of HLA-DR PubMed
    tat HIV-1 Tat downregulates expression of MHC class II genes in antigen-presenting cells (APC) by inhibiting the transactivator of MHC class II genes, CIITA PubMed
    tat HIV-1 Tat upregulates HLA-DR expression in monocyte-derived dendritic cells and T cells, thereby driving T cell-mediated immune responses and activation PubMed
    Vif vif The number of HIV-1 Vif epitopes recognized by HLA-DRB1 are significantly different between HIV-1 infected non-progressors and progressors PubMed
    Vpu vpu HIV-1 Vpu interacts with CD74 and modulates MHC II in HIV-1-infected cells PubMed
    capsid gag HIV-1 CA co-localizes with HLA-DR in human monocyte-derived dendritic cells PubMed
    gag HIV-1 Capsid (p24) inhibits interferon gamma induced increases in HLA-DR and cytochrome B heavy chain mRNA levels in the human monocyte-like cell line THP1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ75017, FLJ76359

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CD4 receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables MHC class II protein complex binding HDA PubMed 
    enables MHC class II protein complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables MHC class II receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables MHC class II receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables MHC class II receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables T cell receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptide antigen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptide antigen binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables polysaccharide binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in T cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in T-helper 1 type immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in antigen processing and presentation of endogenous peptide antigen via MHC class II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in detection of bacterium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in humoral immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in immune response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in inflammatory response to antigenic stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in macrophage differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in myeloid dendritic cell antigen processing and presentation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of T cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of inflammatory response to antigenic stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of type II interferon production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in peptide antigen assembly with MHC class II protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in peptide antigen assembly with MHC class II protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of CD4-positive, alpha-beta T cell activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of T cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of T cell mediated cytotoxicity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of T cell mediated immune response to tumor cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of memory T cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of monocyte differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of viral entry into host cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein tetramerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of T-helper cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of interleukin-10 production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of interleukin-4 production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of MHC class II protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MHC class II protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of MHC class II protein complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in autolysosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    located_in immunological synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intermediate filament TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in late endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in late endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lumenal side of endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in transport vesicle membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029921.1 RefSeqGene

      Range
      5001..18403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243965.1 → NP_001230894.1  major histocompatibility complex, class II, DR beta 1 precursor

      See identical proteins and their annotated locations for NP_001230894.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the DRB1*03:01:01 allele of the HLA-DRB1 gene, as represented in the alternate locus groups ALT_REF_LOCI_2 and ALT_REF_LOCI_6 of the reference genome.
      Source sequence(s)
      BM671866, DB246210, X00699
      UniProtKB/TrEMBL
      A0A098GK79, A0A0A1IBA8, A0A0A8LFF3, A0A7G2CTJ8, A0A7R8NBZ3, A0A7R8NBZ9, A0A7R8NC96, A0A7R8ND07, A0A8F6GU52, A8K634, Q56FP5, Q5Y7D1
      Conserved Domains (2) summary
      pfam00969
      Location:42 → 116
      MHC_II_beta; Class II histocompatibility antigen, beta domain
      cd21000
      Location:123 → 218
      IgC1_MHC_II_beta_HLA-DR; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain of histocompatibility antigen (HLA) DR; member of the C1-set of Ig superfamily (IgSF) domains

    2. NM_001359193.1 → NP_001346122.1  major histocompatibility complex, class II, DR beta 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the DRB1*07:01:01 allele of the HLA-DRB1 gene, as represented in the alternate locus groups ALT_REF_LOCI_3 and ALT_REF_LOCI_4 of the reference genome.
      Source sequence(s)
      BC018832
      UniProtKB/TrEMBL
      A0A7S4PRB8, A0A7S4U9P6, D7RIG5, Q5XKU0
      Conserved Domains (2) summary
      pfam00969
      Location:44 → 116
      MHC_II_beta; Class II histocompatibility antigen, beta domain
      cd21000
      Location:123 → 218
      IgC1_MHC_II_beta_HLA-DR; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain of histocompatibility antigen (HLA) DR; member of the C1-set of Ig superfamily (IgSF) domains

    3. NM_001359194.1 → NP_001346123.1  major histocompatibility complex, class II, DR beta 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the DRB1*04:03:01 allele of the HLA-DRB1 gene, as represented in the alternate locus group ALT_REF_LOCI_7 of the reference genome.
      Source sequence(s)
      BX296568
      UniProtKB/TrEMBL
      A0A455R0R3, A0A7S4V2F4, A2BFX2, Q56FN8, Q70Q10, X5CF47
      Conserved Domains (2) summary
      pfam00969
      Location:43 → 116
      MHC_II_beta; Class II histocompatibility antigen, beta domain
      cd21000
      Location:123 → 218
      IgC1_MHC_II_beta_HLA-DR; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain of histocompatibility antigen (HLA) DR; member of the C1-set of Ig superfamily (IgSF) domains

    4. NM_002124.4 → NP_002115.2  major histocompatibility complex, class II, DR beta 1 precursor

      See identical proteins and their annotated locations for NP_002115.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the DRB1*15:01:01 allele of the HLA-DRB1 gene, as represented in the assembled chromosome 6 in the primary assembly of the reference genome and the CHM1_1.1 genome.
      Source sequence(s)
      AK291987, AL713966, BC033827
      Consensus CDS
      CCDS47409.1
      UniProtKB/Swiss-Prot
      A0MWF2, A0N0W1, A2ICT1, A2TGX3, A4F5N0, A4ZXA5, A4ZXA6, A4ZY86, A5H000, A5HKN8, A7DZP9, A7LA26, A7UHG2, A7X5B1, A7X5B7, A7X5E0, A7X5E6, A7X5H8, A7X5J4, A7X5K7, A8K098, A8YQE9, A9JPG0, B0BK85, B0LUZ6, B0UYW1, B1GWE7, B2CR03, B2LVF9, B2NJ29, B2ZCY1, B3VTP8, B3VTQ3, B5A8Y2, B5A8Y3, B5B8U0, B5B9V5, B5B9V6, B5LZ25, B5QSK8, B6VCX2, B6VEL9, B7UDB2, B9VRA4, B9X248, C0LAB5, O02876, O02930, O19585, O19717, O19718, O19739, O19788, O46699, O46793, O46872, O62869, O62889, O77969, O78047, O78210, O98212, P01911, P01912, P01914, P04229, P13758, P13759, P13760, P13761, P20039, P79545, Q06662, Q0PGR5, Q0PQ39, Q14280, Q14QT2, Q155F7, Q19AF2, Q19K86, Q1AP33, Q1G0Z9, Q1JRP3, Q1KLJ6, Q27PR6, Q27PR7, Q29673, Q29720, Q29722, Q29734, Q29770, Q29771, Q29772, Q29790, Q29792, Q29800, Q29806, Q29833, Q29874, Q29875, Q29886, Q29968, Q29974, Q29975, Q2A120, Q2HZE5, Q2L9H4, Q2LE76, Q2MF40, Q2MJA6, Q2MZ92, Q2VQU1, Q2YHQ2, Q30006, Q30108, Q30112, Q30115, Q30116, Q30117, Q30120, Q30134, Q30142, Q30145, Q30149, Q30159, Q30166, Q30167, Q30200, Q307W5, Q31636, Q32MY7, Q3HUP9, Q3KTM1, Q3LA84, Q3LA87, Q3LA88, Q3LA89, Q3LA90, Q3LA91, Q3LA92, Q3LA93, Q3LA94, Q3LA95, Q3LA96, Q3LA97, Q3LA98, Q3LA99, Q3LAA0, Q3LAA1, Q3LAA2, Q3MQ60, Q3T919, Q4PRC3, Q4PRC5, Q4VZY7, Q53IG1, Q56FN9, Q56FP1, Q56FP2, Q56FP3, Q58F52, Q5BM92, Q5EER6, Q5K3W2, Q5NDB9, Q5U9W6, Q5UBA2, Q5UT58, Q5W3L4, Q5Y7A7, Q5Y7B0, Q5Y7B9, Q5Y7E9, Q5Y7G0, Q683P7, Q6REE2, Q6T865, Q6U387, Q701T1, Q70GL2, Q70Q85, Q768U2, Q768U4, Q7M2H4, Q7YNY9, Q7YP03, Q7YP04, Q7YQ26, Q7YQA3, Q7YQA5, Q860D8, Q860D9, Q860E5, Q860H8, Q860S0, Q860Z3, Q861G6, Q861H0, Q861H4, Q861H5, Q861H7, Q861H8, Q8HWQ6, Q8MH59, Q8MH60, Q8WLU3, Q8WMA0, Q95348, Q95383, Q95389, Q95461, Q95HK1, Q95HL0, Q95HL1, Q95IE3, Q95IG2, Q95IT6, Q96HZ9, Q9BCL7, Q9BCP0, Q9BCP1, Q9BCP2, Q9BCP5, Q9BD21, Q9BD33, Q9BD40, Q9GIK5, Q9GIL5, Q9GIL6, Q9GIP3, Q9GIX8, Q9GIX9, Q9GIY0, Q9GIY1, Q9GIY2, Q9GIY3, Q9GIY4, Q9GJ25, Q9GJ56, Q9GJ57, Q9GJ58, Q9GJ60, Q9GJF8, Q9GJF9, Q9GJG0, Q9MXZ0, Q9MXZ5, Q9MY13, Q9MY45, Q9MY56, Q9MYF5, Q9TPB6, Q9TPW1, Q9TPW3, Q9TPW9, Q9TPX4, Q9TQ37, Q9TQ91, Q9TQE0, Q9UBY1, Q9UIM9, Q9UIN0, Q9XRX1, Q9XRY4, Q9XRY5, Q9Y453, Q9Y4H7
      UniProtKB/TrEMBL
      A0A0A8LDX0, A0A224MKH6, A0A455QYV7, A0A6C0NSJ1, A0A6V7B690, A0A6V7B8E1, D7RIH8, G0YWD3, S6B225, X5DNQ0
      Related
      ENSP00000353099.5, ENST00000360004.6
      Conserved Domains (2) summary
      pfam00969
      Location:43 → 116
      MHC_II_beta; Class II histocompatibility antigen, beta domain
      cd21000
      Location:123 → 218
      IgC1_MHC_II_beta_HLA-DR; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain of histocompatibility antigen (HLA) DR; member of the C1-set of Ig superfamily (IgSF) domains

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      32578775..32589848 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3998045..4011447 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      3814543..3830112 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      3988951..4004510 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      3779010..3792428 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443024.1 → XP_047298980.1  major histocompatibility complex, class II, DR beta 1 precursor isoform X2

      UniProtKB/TrEMBL
      Q5Y7D1

    2. XM_024452553.2 → XP_024308321.1  major histocompatibility complex, class II, DR beta 1 precursor isoform X1

      UniProtKB/TrEMBL
      A0A098GK79, A0A0A1IBA8, A0A0A8LFF3, A0A7G2CTJ8, A0A7R8NBZ3, A0A7R8NBZ9, A0A7R8NC96, A0A7R8ND07, A0A8F6GU52, A8K634, Q56FP5
      Conserved Domains (2) summary
      pfam00969
      Location:55 → 129
      MHC_II_beta; Class II histocompatibility antigen, beta domain
      cl11960
      Location:139 → 232
      Ig; Immunoglobulin domain

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      3979128..3993841 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      32408987..32422414 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P01911.2 GenPept UniProtKB/Swiss-Prot:P01911

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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