CEP63

CEP63
Identifiers
Aliases	CEP63 , SCKL6, centrosomal protein 63
External IDs	OMIM: 614724; MGI: 2158560; HomoloGene: 11861; GeneCards: CEP63; OMA:CEP63 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3q22.2 Start 134,485,699 bp [1] End 134,587,789 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9 F1|9 54.61 cM Start 102,461,787 bp [2] End 102,503,733 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon epithelium of colon sural nerve muscle of thigh monocyte left testis gastrocnemius muscle ganglionic eminence gonad right testis Top expressed in spermatid seminiferous tubule spermatocyte tail of embryo neural layer of retina genital tubercle otolith organ utricle ventricular zone muscle of thigh More reference expression data BioGPS More reference expression data
Gene ontology Molecular function 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 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 NP_001394628 NP_001394629 NP_001394630 NP_001394631 NP_001394632 NP_001394633 NP_001394634 NP_001394635 NP_001394636 NP_001394637 NP_001394638 NP_001394639 NP_001394640 NP_001394641 NP_001394642 NP_001394643 NP_001394644 NP_001394645 NP_001394646 NP_001394647 NP_001394648 NP_001394649 NP_001394650 NP_001394651 NP_001394652 Location (UCSC) Chr 3: 134.49 – 134.59 Mb Chr 9: 102.46 – 102.5 Mb PubMed search [3] [4]
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

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.

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. 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.