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    CD247 CD247 molecule [ Homo sapiens (human) ]

    Gene ID: 919, updated on 8-Jul-2021

    Summary

    Official Symbol
    CD247provided by HGNC
    Official Full Name
    CD247 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:1677
    See related
    Ensembl:ENSG00000198821 MIM:186780
    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
    T3Z; CD3H; CD3Q; CD3Z; TCRZ; IMD25; CD3-ZETA
    Summary
    The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in lymph node (RPKM 25.8), spleen (RPKM 18.4) and 11 other tissues See more
    Orthologs
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    Genomic context

    See CD247 in Genome Data Viewer
    Location:
    1q24.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (167430640..167518542, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (167399877..167487766, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1363 Neighboring gene POU class 2 homeobox 1 Neighboring gene VISTA enhancer hs1331 Neighboring gene uncharacterized LOC101928512 Neighboring gene uncharacterized LOC107985224 Neighboring gene aldo-keto reductase family 1 member D1 pseudogene 1 Neighboring gene GATA motif-containing MPRA enhancer 235 Neighboring gene cellular repressor of E1A stimulated genes 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
    Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
    GeneReviews: Not available
    Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
    GeneReviews: Not available
    Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.
    GeneReviews: Not available
    Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
    GeneReviews: Not available
    Immunodeficiency due to defect in cd3-zeta
    MedGen: C1857798 OMIM: 610163 GeneReviews: Not available
    Compare labs
    Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
    GeneReviews: Not available
    Multiple common variants for celiac disease influencing immune gene expression.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Lck phosphorylates CD3zeta and the TCR-CD3 complex is recruited to a virological synapse (VS) when cells interact with gp120+ICAM-1 bilayers, leading to the creation of an F-actin-depleted zone PubMed
    Nef nef HIV-1 Nef increases the association of the src family tyrosine kinase, Lck, and TCRzeta with rafts in human T cells, suggesting Nef primes resting T cells for activation by increasing the levels of signaling molecules within rafts PubMed
    nef An HIV-1 Nef isoform (R-Nef) efficiently interacts with signaling molecules of the T cell receptor (TCR) in primary T cells, including TCR-zeta, Lck, and Vav; the PxxP motif in Nef is involved in the interactions PubMed
    nef HIV-1 Nef co-localizes with CD8-CD3 zeta on the HEK293 cell surface PubMed
    nef HIV-1 Nef directly interacts with TCR-zeta; this interaction is mediated through amino acids 73-82 in Nef and is required for HIV-mediated upregulation of Fas ligand expression PubMed
    Pr55(Gag) gag Monocyte-derived macrophages selectively capture and engulf HIV-1-infected CD4+ T cells as HIV-1 Gag interacts with CD3 and Caspase 3 markers, leading to efficient macrophage infection PubMed
    gag CD3/28-treated resting CD4+ T cells produce more HIV-1 Gag protein than untreated cells PubMed
    gag Interferon-gamma can counteract the inhibitory effect of peptides based on the Capsid protein of HIV-1 Gag on antibody response to SRC PubMed
    gag Peptides corresponding to amino acids 218-238 of the Capsid protein of HIV-1 Gag inhibited anti-CD3-induced lymphoproliferation but did not directly affect anti-CD2 activation PubMed
    gag Synthetic peptides corresponding to amino acids 218-238 of the Capsid protein of HIV-1 Gag have been shown to inhibit in a dose dependent manner the induction of a specific antibody response to the sheep red cell (SRC) antigen through the T3-Ti complex PubMed
    Tat tat HIV-1 Tat upregulates CD247 in HEK 293T cells PubMed
    tat HIV-1 Tat interacts with CD3 and CD28 to co-stimulate IL-2 and IL-8 expression PubMed
    Vpu vpu HIV-1 Vpu interacts with CD3 in living cells PubMed
    capsid gag Interferon-gamma can counteract the inhibitory effect of HIV-1 Capsid based peptides on antibody response to SRC PubMed
    gag Peptides corresponding to amino acids 218-238 of HIV-1 Capsid inhibited anti-CD3-induced lymphoproliferation but did not directly affect anti-CD2 activation PubMed
    gag Synthetic peptides corresponding to amino acids 218-238 of HIV-1 Capsid have been shown to inhibit in a dose dependent manner the induction of a specific antibody response to the sheep red cell (SRC) antigen through the T3-Ti complex PubMed
    matrix gag HIV-1 MA co-localizes with CD3 marker protein in monocyte-derived macrophages cocultured with HIV-1-infected primary CD4+ T-cells 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane signaling receptor activity IC
    Inferred by Curator
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    part_of T cell receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of alpha-beta T cell receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of alpha-beta T cell receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    T-cell surface glycoprotein CD3 zeta chain
    Names
    CD247 antigen, zeta subunit
    CD3Z antigen, zeta polypeptide (TiT3 complex)
    CD3zeta chain
    T-cell antigen receptor complex, zeta subunit of CD3
    T-cell receptor T3 zeta chain
    TCR zeta chain

    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_007384.1 RefSeqGene

      Range
      5000..92970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_36

    mRNA and Protein(s)

    1. NM_000734.4NP_000725.1  T-cell surface glycoprotein CD3 zeta chain isoform 2 precursor

      See identical proteins and their annotated locations for NP_000725.1

      Status: REVIEWED

      Source sequence(s)
      AL031733, AL359962
      Consensus CDS
      CCDS1260.1
      UniProtKB/Swiss-Prot
      P20963
      Related
      ENSP00000375969.3, ENST00000392122.3
      Conserved Domains (2) summary
      smart00077
      Location:6989
      ITAM; Immunoreceptor tyrosine-based activation motif
      pfam11628
      Location:2858
      TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain
    2. NM_001378515.1NP_001365444.1  T-cell surface glycoprotein CD3 zeta chain isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AL031733, AL359962
      Conserved Domains (3) summary
      smart00077
      Location:100120
      ITAM; Immunoreceptor tyrosine-based activation motif
      pfam02189
      Location:170189
      ITAM; Immunoreceptor tyrosine-based activation motif
      pfam11628
      Location:5989
      TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain
    3. NM_001378516.1NP_001365445.1  T-cell surface glycoprotein CD3 zeta chain isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AL031733, AL359962
      Conserved Domains (3) summary
      smart00077
      Location:100120
      ITAM; Immunoreceptor tyrosine-based activation motif
      pfam02189
      Location:169188
      ITAM; Immunoreceptor tyrosine-based activation motif
      pfam11628
      Location:5989
      TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain
    4. NM_198053.3NP_932170.1  T-cell surface glycoprotein CD3 zeta chain isoform 1 precursor

      See identical proteins and their annotated locations for NP_932170.1

      Status: REVIEWED

      Source sequence(s)
      AL031733, AL359962
      Consensus CDS
      CCDS1261.1
      UniProtKB/Swiss-Prot
      P20963
      Related
      ENSP00000354782.5, ENST00000362089.10
      Conserved Domains (2) summary
      smart00077
      Location:6989
      ITAM; Immunoreceptor tyrosine-based activation motif
      pfam11628
      Location:2858
      TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      167430640..167518542 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510145.1XP_011508447.1  T-cell surface glycoprotein CD3 zeta chain isoform X4

      Conserved Domains (3) summary
      smart00077
      Location:7797
      ITAM; Immunoreceptor tyrosine-based activation motif
      pfam02189
      Location:146165
      ITAM; Immunoreceptor tyrosine-based activation motif
      pfam11628
      Location:3666
      TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain
    2. XM_011510144.2XP_011508446.1  T-cell surface glycoprotein CD3 zeta chain isoform X3

      Conserved Domains (3) summary
      smart00077
      Location:7797
      ITAM; Immunoreceptor tyrosine-based activation motif
      pfam02189
      Location:147166
      ITAM; Immunoreceptor tyrosine-based activation motif
      pfam11628
      Location:3666
      TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain
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