CEP63 explained
Centrosomal protein of 63 kDa is a protein that in humans is encoded by the CEP63 gene.[1] [2] Several alternatively spliced transcript variants have been found, but their biological validity has not been determined.
Function
This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells.[2] Recent computational analysis revealed pathogenic property of L61P point mutation in CEP63 protein that affected its native structural conformation.[3]
Interactions
CEP63 has been shown to interact with DISC1,[4] CEP152 and CDK1.[3]
Further reading
- Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S, Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L, Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J, Ducar M . Creation of genome-wide protein expression libraries using random activation of gene expression . Nat. Biotechnol. . 19 . 5 . 440–5 . 2001 . 11329013 . 10.1038/88107 . 25064683 .
- Morris JA, Kandpal G, Ma L, Austin CP . DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation . Hum. Mol. Genet. . 12 . 13 . 1591–608 . 2003 . 12812986 . 10.1093/hmg/ddg162 .
- Huda Zoghbi . Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 1356129 . 10.1101/gr.4039406 .
- Buim ME, Soares FA, Sarkis AS, Nagai MA . The transcripts of SFRP1, CEP63 and EIF4G2 genes are frequently downregulated in transitional cell carcinomas of the bladder . Oncology . 69 . 6 . 445–54 . 2005 . 16410684 . 10.1159/000090984 . 21133968 .
Notes and References
- Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M . Proteomic characterization of the human centrosome by protein correlation profiling . Nature . 426 . 6966 . 570–4 . Dec 2003 . 14654843 . 10.1038/nature02166 . 2003Natur.426..570A . 4427303 .
- Web site: Entrez Gene: CEP63 centrosomal protein 63kDa.
- Kumar A, Purohit R . Computational investigation of pathogenic nsSNPs in CEP63 protein . Gene . 503 . 1 . 75–82 . April 2012 . 22555018 . 10.1016/j.gene.2012.04.032 .
- Morris JA, Kandpal G, Ma L, Austin CP . DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation . Hum. Mol. Genet. . 12 . 13 . 1591–608 . July 2003 . 12812986 . 10.1093/hmg/ddg162 .
