CEP63

Centrosomal protein of 63 kDa is a protein that in humans is encoded by the CEP63 gene.[5][6] Several alternatively spliced transcript variants have been found, but their biological validity has not been determined.

CEP63
Identifiers
AliasesCEP63, SCKL6, centrosomal protein 63
External IDsOMIM: 614724 MGI: 2158560 HomoloGene: 11861 GeneCards: CEP63
Orthologs
SpeciesHumanMouse
Entrez

80254

28135

Ensembl

ENSG00000182923

ENSMUSG00000032534

UniProt

Q96MT8

Q3UPP8

RefSeq (mRNA)

NM_001081122
NM_001301689

RefSeq (protein)
Location (UCSC)Chr 3: 134.49 – 134.59 MbChr 9: 102.46 – 102.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6] Recent computational analysis revealed pathogenic property of L61P point mutation in CEP63 protein that affected its native structural conformation.[7]

Interactions

CEP63 has been shown to interact with DISC1,[8] CEP152 and CDK1.[7]

References
  1. GRCh38: Ensembl release 89: ENSG00000182923 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000032534 - 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. Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M (Dec 2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature. 426 (6966): 570–4. Bibcode:2003Natur.426..570A. doi:10.1038/nature02166. PMID 14654843. S2CID 4427303.
  6. "Entrez Gene: CEP63 centrosomal protein 63kDa".
  7. Kumar A, Purohit R (April 2012). "Computational investigation of pathogenic nsSNPs in CEP63 protein". Gene. 503 (1): 75–82. doi:10.1016/j.gene.2012.04.032. PMID 22555018.
  8. Morris JA, Kandpal G, Ma L, Austin CP (July 2003). "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. doi:10.1093/hmg/ddg162. PMID 12812986.

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 (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. doi:10.1038/88107. PMID 11329013. S2CID 25064683.
  • Morris JA, Kandpal G, Ma L, Austin CP (2003). "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. doi:10.1093/hmg/ddg162. PMID 12812986.
  • 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 (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 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 (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
  • Buim ME, Soares FA, Sarkis AS, Nagai MA (2005). "The transcripts of SFRP1,CEP63 and EIF4G2 genes are frequently downregulated in transitional cell carcinomas of the bladder". Oncology. 69 (6): 445–54. doi:10.1159/000090984. PMID 16410684. S2CID 21133968.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.