CCDC8

CCDC8
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCCDC8, 3M3, PPP1R20, p90, coiled-coil domain containing 8
External IDsMGI: 3612184 HomoloGene: 49977 GeneCards: CCDC8
Gene location (Human)
Chr.Chromosome 19 (human)[1]
Band19q13.32Start46,410,372 bp[1]
End46,413,584 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

83987

434130

Ensembl

ENSG00000169515

ENSMUSG00000041117

UniProt

Q9H0W5

D3YZV8

RefSeq (mRNA)

NM_032040

NM_001101535

RefSeq (protein)

NP_114429

NP_001095005

Location (UCSC)Chr 19: 46.41 – 46.41 MbChr 7: 16.99 – 17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.[5]

Function

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.

Clinical relevance

Mutations in this gene have been shown to cause 3-M syndrome.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000169515 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041117 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ "Entrez Gene: Coiled-coil domain containing 8". Retrieved 2011-12-30.
  6. ↑ Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC (July 2011). "Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth". Am. J. Hum. Genet. 89 (1): 148–53. doi:10.1016/j.ajhg.2011.05.028. PMC 3135816. PMID 21737058.

Further reading

  • Hanson, D.; Murray, P. G.; O'Sullivan, J.; Urquhart, J.; Daly, S.; Bhaskar, S. S.; Biesecker, L. G.; Skae, M.; Smith, C.; Cole, T.; Kirk, J.; Chandler, K.; Kingston, H.; Donnai, D.; Clayton, P. E.; Black, G. C. M. (2011). "Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth". The American Journal of Human Genetics. 89 (1): 148–153. doi:10.1016/j.ajhg.2011.05.028. PMC 3135816. PMID 21737058.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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