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
Aliases	CEP63, SCKL6, centrosomal protein 63
External IDs	OMIM: 614724 MGI: 2158560 HomoloGene: 11861 GeneCards: CEP63
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q22.2 Start 134,485,721 bp[1] End 134,575,017 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 F1|9 54.61 cM Start 102,584,588 bp[2] End 102,626,534 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • cytoplasm • microtubule organizing center • centriole • cytosol • centrosome • spindle pole • cytoskeleton Biological process • spindle assembly • cell division • cell cycle • DNA damage checkpoint • G2/M transition of mitotic cell cycle • de novo centriole assembly involved in multi-ciliated epithelial cell differentiation • signal transduction in response to DNA damage • cellular response to DNA damage stimulus • centriole replication • ciliary basal body docking • regulation of G2/M transition of mitotic cell cycle Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	80254	28135
Ensembl	ENSG00000182923	ENSMUSG00000032534
UniProt	Q96MT8	Q3UPP8
RefSeq (mRNA)	NM_001042383 NM_001042384 NM_001042400 NM_025180 NM_001353108 NM_001353109 NM_001353110 NM_001353111 NM_001353112 NM_001353113 NM_001353117 NM_001353118 NM_001353119 NM_001353120 NM_001353121 NM_001353122 NM_001353123 NM_001353124 NM_001353125 NM_001353126	NM_001081122 NM_001301689
RefSeq (protein)	NP_001035842 NP_001035843 NP_001035859 NP_079456 NP_001340037 NP_001340038 NP_001340039 NP_001340040 NP_001340041 NP_001340042 NP_001340046 NP_001340047 NP_001340048 NP_001340049 NP_001340050 NP_001340051 NP_001340052 NP_001340053 NP_001340054 NP_001340055	NP_001074591 NP_001288618
Location (UCSC)	Chr 3: 134.49 – 134.58 Mb	Chr 9: 102.58 – 102.63 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/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. 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.

External links

• Human CEP63 genome location and CEP63 gene details page in the UCSC Genome Browser.

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. 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.