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    CCDC8 coiled-coil domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 83987, updated on 9-Dec-2024

    Summary

    Official Symbol
    CCDC8provided by HGNC
    Official Full Name
    coiled-coil domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:25367
    See related
    Ensembl:ENSG00000169515 MIM:614145; AllianceGenome:HGNC:25367
    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
    3M3; p90; PPP1R20
    Summary
    This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]
    Orthologs
    NEW
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    Genomic context

    See CCDC8 in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (46410329..46413564, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (49237640..49240878, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46913586..46916821, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 924, pseudogene Neighboring gene hypoxia inducible factor 3 subunit alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46823333-46823834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46823835-46824334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14837 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46854004-46854805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10810 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10811 Neighboring gene protein phosphatase 5 catalytic subunit Neighboring gene uncharacterized LOC105372426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46886025-46886926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46896972-46897472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46906697-46907404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46911937-46912461 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46915195-46916028 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:46917695-46918528 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46918529-46919361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46929364-46929871 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46929872-46930378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14841 Neighboring gene MPRA-validated peak3522 silencer Neighboring gene PNMA family member 8C Neighboring gene PNMA family member 8A

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infectivity is decreased by overexpression of CCDC8 in producer cells (HEK293T) PubMed
    HIV-1 production is inhibited by CCDC8 overexpression in HEK293T cells and to a lesser extent in HeLa cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag HIV-1 Gag is degraded by CCDC8 PubMed
    gag HIV-1 Gag is relocalized by CCDC8 from the plasma membrane to the cytoplasm via endocytosis but not via the endolysosome pathway PubMed
    gag HIV-1 Gag incorporates CCDC8 into HIV-1 virions PubMed
    gag HIV-1 Gag is polyubiquitinylated by CCDC8 PubMed
    matrix gag HIV-1 MA interacts with CCDC8 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • DKFZp564K0322

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in microtubule cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mitotic nuclear division IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of mitotic nuclear division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of 3M complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of 3M complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 8
    Names
    protein phosphatase 1, regulatory subunit 20

    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_031956.1 RefSeqGene

      Range
      5099..8334
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1258

    mRNA and Protein(s)

    1. NM_032040.5NP_114429.2  coiled-coil domain-containing protein 8

      See identical proteins and their annotated locations for NP_114429.2

      Status: REVIEWED

      Source sequence(s)
      AI301367, AL136609, BC025243, JN703457
      Consensus CDS
      CCDS12685.1
      UniProtKB/Swiss-Prot
      Q8TB26, Q9H0W5
      UniProtKB/TrEMBL
      G8IFA7
      Related
      ENSP00000303158.3, ENST00000307522.5
      Conserved Domains (2) summary
      pfam14893
      Location:257
      PNMA; PNMA
      cl21487
      Location:235334
      OM_channels; Porin superfamily. These outer membrane channels share a beta-barrel structure that differ in strand and shear number. Classical (gram-negative ) porins are non-specific channels for small hydrophillic molecules and form 16 beta-stranded barrels (16,20) ...

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      46410329..46413564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      49237640..49240878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)