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

    Gene ID: 3123, updated on 29-Mar-2020

    Summary

    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
    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. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]
    Orthologs

    Genomic context

    See HLA-DRB1 in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (32578769..32589836, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32546546..32557613, 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 uncharacterized LOC107986589 Neighboring gene major histocompatibility complex, class II, DQ alpha 1 Neighboring gene HLA-DQB1 antisense RNA 1 Neighboring gene major histocompatibility complex, class II, DQ beta 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    NHGRI GWAS Catalog

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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ75017, FLJ76359

    Gene Ontology Provided by GOA

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

    General protein information

    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)

    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_001243965.1NP_001230894.1  major histocompatibility complex, class II, DR beta 1 precursor 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/Swiss-Prot
      P01912
      UniProtKB/TrEMBL
      Q5Y7D1
      Conserved Domains (2) summary
      pfam00969
      Location:42116
      MHC_II_beta; Class II histocompatibility antigen, beta domain
      cl11960
      Location:126219
      Ig; Immunoglobulin domain
    2. NM_001359193.1NP_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
      Conserved Domains (2) summary
      cd05766
      Location:126219
      IgC_MHC_II_beta; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain
      pfam00969
      Location:44116
      MHC_II_beta; Class II histocompatibility antigen, beta domain
    3. NM_001359194.1NP_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
      Conserved Domains (2) summary
      cd05766
      Location:126219
      IgC_MHC_II_beta; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain
      pfam00969
      Location:43116
      MHC_II_beta; Class II histocompatibility antigen, beta domain
    4. NM_002124.3NP_002115.2  major histocompatibility complex, class II, DR beta 1 precursor 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, BC033827
      Consensus CDS
      CCDS47409.1
      UniProtKB/Swiss-Prot
      P01911, Q29974
      UniProtKB/TrEMBL
      D7RIH8, X5DNQ0
      Related
      ENSP00000353099.5, ENST00000360004.5
      Conserved Domains (2) summary
      cd05766
      Location:126219
      IgC_MHC_II_beta; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain
      pfam00969
      Location:43116
      MHC_II_beta; Class II histocompatibility antigen, beta domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      32578769..32589836 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

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

    Reference GRCh38.p13 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

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

    Reference GRCh38.p13 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

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

    Reference GRCh38.p13 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

      Range
      3779004..3792428 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452554.1XP_024308322.1  major histocompatibility complex, class II, DR beta 1 precursor isoform X2

      Conserved Domains (2) summary
      pfam00969
      Location:42116
      MHC_II_beta; Class II histocompatibility antigen, beta domain
      cl11960
      Location:126219
      Ig; Immunoglobulin domain
    2. XM_024452553.1XP_024308321.1  major histocompatibility complex, class II, DR beta 1 precursor isoform X1

      Conserved Domains (2) summary
      pfam00969
      Location:55129
      MHC_II_beta; Class II histocompatibility antigen, beta domain
      cl11960
      Location:139232
      Ig; Immunoglobulin domain

    RNA

    1. XR_002958970.1 RNA Sequence

    2. XR_002958969.1 RNA Sequence

    Reference GRCh38.p13 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

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