CEP63

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)
End	134,587,789 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	102,503,733 bp
RNA expression pattern
	Top expressed in
	testicle; ; Achilles tendon; ; sural nerve; ; blood; ; left ventricle; ; biceps brachii; ; gastrocnemius muscle;
	More reference expression data
	; ;
	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 signaling; 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-plasma membrane docking; regulation of G2/M transition of mitotic cell cycle;
	Sources:Amigo / QuickGO
Orthologs
	80254
	28135
	ENSG00000182923
	ENSMUSG00000032534
	Q96MT8
	Q3UPP8
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
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
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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[]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000182923 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032534 - 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.
^ 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.
^ ^a ^b "Entrez Gene: CEP63 centrosomal protein 63kDa".
^ ^a ^b 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.
^ 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.

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by .

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000182923 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid14654843-5] 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.

[entrez-6] "Entrez Gene: CEP63 centrosomal protein 63kDa".

[pmid22555018-7] 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.

[pmid12812986-8] 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.

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[3]

[4]

[5]

[6]

[7]

[8]

v t The centrosome and its components
Centrioles	SASS6 CENPJ CNTROB CEP104 Centrins (CETN1, CETN2 and CETN3) SFI1
Pericentriolar material	BBS4 Lck PCM1 PCNT TNKS TNKS2 TUBE1
other proteins	CCP110 CEP55 CEP57 CEP63 CEP68 CEP70 CEP72 CEP76 CEP78 CEP90 CEP97 CEP120 CEP135 CEP152 CEP164 CEP170 CEP192 CEP215 CEP250 CEP350 CNTRL NIN NINL