Protein-coding gene in humans
CCDC8 |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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Identifiers |
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Aliases | CCDC8, 3M3, PPP1R20, p90, coiled-coil domain containing 8 |
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External IDs | OMIM: 614145; MGI: 3612184; HomoloGene: 49977; GeneCards: CCDC8; OMA:CCDC8 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 19 (human)[1] |
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| Band | 19q13.32 | Start | 46,410,329 bp[1] |
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End | 46,413,564 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 7 (mouse)[2] |
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| Band | 7|7 A2 | Start | 16,726,633 bp[2] |
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End | 16,731,441 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| Top expressed in | - interventricular septum
- hand
- Gonadal ridge
- atrium
- cumulus cell
- mandibular prominence
- left lung lobe
- ventricular zone
- vas deferens
- endocardial cushion
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | | 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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 19: 46.41 – 46.41 Mb | Chr 7: 16.73 – 16.73 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000169515 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041117 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Coiled-coil domain containing 8". Retrieved 2011-12-30.
- ^ 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.