CCDC8

CCDC8
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4LG6
Identifiers
Aliases	CCDC8 , 3M3, PPP1R20, p90, coiled-coil domain containing 8
External IDs	OMIM: 614145; MGI: 3612184; HomoloGene: 49977; GeneCards: CCDC8; OMA:CCDC8 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19q13.32 Start 46,410,329 bp [1] End 46,413,564 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 A2 Start 16,726,633 bp [2] End 16,731,441 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cardiac muscle tissue of right atrium myocardium of left ventricle vena cava right ventricle saphenous vein renal medulla right uterine tube cardia tibia trachea Top expressed in interventricular septum hand Gonadal ridge atrium cumulus cell mandibular prominence left lung lobe ventricular zone vas deferens endocardial cushion More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component microtubule organizing center plasma membrane 3M complex cytoskeleton cytoplasm centrosome nucleus cytosol Biological process regulation of mitotic nuclear division negative regulation of phosphatase activity microtubule cytoskeleton organization post-translational protein modification Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 7: 16.73 – 16.73 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. GRCh38: Ensembl release 89: ENSG00000169515 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000041117 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.

External links

• GeneReviews/NIH/NCBI/UW entry on 3-M syndrome
• Human CCDC8 genome location and CCDC8 gene details page in the UCSC Genome Browser .

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