CCDC8

Summary

Gene Symbol: CCDC8
Description: coiled-coil domain containing 8
Alias: 3M3, PPP1R20, p90, coiled-coil domain-containing protein 8, protein phosphatase 1, regulatory subunit 20
Species: human
Products:     CCDC8

Top Publications

  1. Hanson D, Stevens A, Murray P, Black G, Clayton P. Identifying biological pathways that underlie primordial short stature using network analysis. J Mol Endocrinol. 2014;52:333-44 pubmed publisher
    Mutations in CUL7, OBSL1 and CCDC8, leading to disordered ubiquitination, cause one of the commonest primordial growth disorders, 3-M syndrome...
  2. Storr H, Dunkel L, Kowalczyk J, Savage M, Metherell L. Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation. Eur J Endocrinol. 2015;172:151-61 pubmed publisher
    ..appropriate candidate genes (GHR, including its pseudoexon (6Ψ), STAT5B, IGFALS, IGF1, IGF1R, OBSL1, CUL7 and CCDC8) in subjects referred with suspected GHI (n=69) or IGF1 insensitivity (n=3). Mean serum IGF1 SDS was -2...
  3. Nie J, Xu C, Jin J, Aka J, Tempel W, Nguyen V, et al. Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8. Structure. 2015;23:700-12 pubmed publisher
    ..We show here that that CCDC8 is a major partner of ANKRA2 but not RFXANK in cells...
  4. Litterman N, Ikeuchi Y, Gallardo G, O Connell B, Sowa M, Gygi S, et al. An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechanism regulates Golgi morphology and dendrite patterning. PLoS Biol. 2011;9:e1001060 pubmed publisher
  5. Dai C, Tang Y, Jung S, Qin J, Aaronson S, Gu W. Differential effects on p53-mediated cell cycle arrest vs. apoptosis by p90. Proc Natl Acad Sci U S A. 2011;108:18937-42 pubmed publisher
    ..Here, we identified p90 (also called Coiled-Coil Domain Containing 8) as a unique regulator for p53...
  6. Hanson D, Murray P, O Sullivan J, Urquhart J, Daly S, Bhaskar S, et al. 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. 2011;89:148-53 pubmed publisher
    ..Exome sequencing now identifies mutations in CCDC8 as a cause of 3-M syndrome...
  7. Hanson D, Murray P, Black G, Clayton P. The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway. Horm Res Paediatr. 2011;76:369-78 pubmed publisher
    ..growth disorder characterised by severe postnatal growth restriction caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of ..
  8. Jiang G, Zhang X, Zhang Y, Xu H, Wang L, Li Q, et al. Coiled-coil domain-containing protein 8 inhibits the invasiveness and migration of non-small cell lung cancer cells. Hum Pathol. 2016;56:64-73 pubmed publisher
    ..Previous studies have implicated coiled-coil domain-containing protein 8 (CCDC8) as a tumor suppressor in several types of cancer, such as breast and prostate cancers...
  9. Wei M, Zhao X, Liu M, Huang Z, Xiao Y, Niu M, et al. Inhibition of HIV-1 assembly by coiled-coil domain containing protein 8 in human cells. Sci Rep. 2015;5:14724 pubmed publisher
    ..Here we identify a new host protein, coiled-coil domain containing protein 8 (CCDC8), in HIV-1 particles...

More Information

Publications14

  1. Hanson D, Murray P, Coulson T, Sud A, Omokanye A, Stratta E, et al. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. J Mol Endocrinol. 2012;49:267-75 pubmed publisher
    3-M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. 3-M patients typically have a modest response to GH treatment, but the mechanism is unknown...
  2. Yan J, Yan F, Li Z, Sinnott B, Cappell K, Yu Y, et al. The 3M complex maintains microtubule and genome integrity. Mol Cell. 2014;54:791-804 pubmed publisher
    CUL7, OBSL1, and CCDC8 genes are mutated in a mutually exclusive manner in 3M and other growth retardation syndromes. The mechanism underlying the function of the three 3M genes in development is not known...
  3. Hu X, Li H, Gui B, Xu Y, Wang J, Li N, et al. Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants. Clin Chim Acta. 2017;474:159-164 pubmed publisher
    ..Molecular testing for CUL7, OBSL1 or CCDC8 genes can provide confirmed diagnosis for patients at prenatal or early age...
  4. Yang C, Yu T, Han C, Qin W, Liao X, Yu L, et al. Genome-Wide Association Study of MKI67 Expression and its Clinical Implications in HBV-Related Hepatocellular Carcinoma in Southern China. Cell Physiol Biochem. 2017;42:1342-1357 pubmed publisher
    ..that MKI67 combined with p53 was associated with a 3-year recurrence-free survival and five variants near TTN and CCDC8 were associated with MKI67 expression...