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    CD83 CD83 molecule [ Homo sapiens (human) ]

    Gene ID: 9308, updated on 17-Jun-2024

    Summary

    Official Symbol
    CD83provided by HGNC
    Official Full Name
    CD83 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:1703
    See related
    Ensembl:ENSG00000112149 MIM:604534; AllianceGenome:HGNC:1703
    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
    BL11; HB15
    Summary
    The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Broad expression in bone marrow (RPKM 72.2), lymph node (RPKM 25.8) and 14 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CD83 in Genome Data Viewer
    Location:
    6p23
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (14117256..14136918)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (13989721..14009378)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (14117487..14137149)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374939 Neighboring gene CRISPRi-validated cis-regulatory element chr6.709 Neighboring gene uncharacterized LOC124901265 Neighboring gene CRISPRi-FlowFISH-validated CD83 regulatory elements GRCh37_chr6:14117366-14118274 to GRCh37_chr6:14117614-14118430 Neighboring gene CRISPRi-FlowFISH-validated CD83 regulatory elements GRCh37_chr6:14118435-14118935 to GRCh37_chr6:14118800-14119300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:14128774-14129372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24048 Neighboring gene RNA, U7 small nuclear 133 pseudogene Neighboring gene MPRA-validated peak5669 silencer Neighboring gene uncharacterized LOC105374940

    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

    EBI GWAS Catalog

    Description
    Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CD83 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of CD83 (BL11, HB15) in human B 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 HIV-1 gp120 inhibits TLR9-mediated upregulation of CD83 and the secretion of inflammatory cytokines TNF-alpha and IL-6, and chemokine IP10 in plasmacytoid dendritic cells (pDC) PubMed
    env The presence of HIV-1 gp120 inhibits the oral mucosal pathogen Porphyromonas gingivalis-induced CD80, CD83, and CD86 upregulation PubMed
    Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD83 PubMed
    nef HIV-1 Nef induces upregulation of CD80, CD83, and CD86 protein expression in a concentration dependent fashion in monocyte derived dendritic cells PubMed
    Pr55(Gag) 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
    Tat tat HIV-1 Tat upregulates the expression of MHC and co-stimulatory molecules CD40, CD80, CD83 and CD86 in monocyte-derived dendritic cells, thereby driving T cell-mediated immune responses PubMed
    Vpr vpr HIV-1 Vpr inhibits the expression of co-stimulatory molecules including CD80, CD83, and CD86 at the transcriptional level without altering normal cellular transcription during dendritic cell maturation PubMed
    vpr HIV-1 Vpr downregulates the expression of several immunologically important molecules including CD40, CD80, CD83, and CD86 co-stimulatory molecules on monocyte-derived macrophage (MDM) and monocyte-derived dendritic cells (MDDC) PubMed
    Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD83 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    General protein information

    Preferred Names
    CD83 antigen
    Names
    B-cell activation protein
    CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)
    cell surface protein HB15
    cell-surface glycoprotein
    hCD83

    NCBI Reference Sequences (RefSeq)

    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_030372.1 RefSeqGene

      Range
      5517..24651
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040280.3NP_001035370.1  CD83 antigen isoform b precursor

      See identical proteins and their annotated locations for NP_001035370.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is 1 aa shorter compared to isoform a.
      Source sequence(s)
      AK223315, AL133259, BC030830, DB178710
      UniProtKB/Swiss-Prot
      Q01151
      Conserved Domains (2) summary
      smart00410
      Location:21126
      IG_like; Immunoglobulin like
      cl11960
      Location:21127
      Ig; Immunoglobulin domain
    2. NM_001251901.1NP_001238830.1  CD83 antigen isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (c) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AL133259, BC030830, DA532022
      Consensus CDS
      CCDS75403.1
      UniProtKB/TrEMBL
      A0A087WX61
      Related
      ENSP00000480760.1, ENST00000612003.4
      Conserved Domains (1) summary
      cl11960
      Location:1260
      Ig; Immunoglobulin domain
    3. NM_004233.4NP_004224.1  CD83 antigen isoform a precursor

      See identical proteins and their annotated locations for NP_004224.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AL133259, BC030830, DB178710
      Consensus CDS
      CCDS4532.1
      UniProtKB/Swiss-Prot
      Q01151, Q5THX9
      Related
      ENSP00000368450.3, ENST00000379153.4
      Conserved Domains (1) summary
      cl11960
      Location:21127
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      14117256..14136918
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      13989721..14009378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)