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

Gene ID: 83987, updated on 5-Feb-2017
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; Vega:OTTHUMG00000162348
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
Location:
19q13.32
Exon count:
1
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (46410329..46413662, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46913586..46916919, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 924, pseudogene Neighboring gene hypoxia inducible factor 3 alpha subunit Neighboring gene protein phosphatase 5 catalytic subunit Neighboring gene uncharacterized LOC105372426 Neighboring gene paraneoplastic Ma antigen family like 1 Neighboring gene PPP5 tetratricopeptide repeat domain containing 1 Neighboring gene paraneoplastic Ma antigen family like 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 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 degraded by CCDC8 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

Products Interactant Other Gene Complex Source Pubs Description

Homology

Clone Names

  • DKFZp564K0322

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitotic nuclear division IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
3M complex IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
coiled-coil domain-containing protein 8
Names
protein phosphatase 1, regulatory subunit 20

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
    5001..8334
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032040.4NP_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, BG717344, JN703457
    Consensus CDS
    CCDS12685.1
    UniProtKB/Swiss-Prot
    Q9H0W5
    UniProtKB/TrEMBL
    G8IFA7
    Related
    ENSP00000303158, OTTHUMP00000221906, ENST00000307522, OTTHUMT00000368598
    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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

    Range
    46410329..46413662 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    46915521..46918858 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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