CEP63
From Wikipedia, the free encyclopedia
| Centrosomal protein 63kDa | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | CEP63; FLJ13386; MGC78416 | ||||||||||||
| External IDs | OMIM: 614724 MGI: 2158560 HomoloGene: 11861 GeneCards: CEP63 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 80254 | 28135 | |||||||||||
| Ensembl | ENSG00000182923 | ENSMUSG00000032534 | |||||||||||
| UniProt | Q96MT8 | F8VPJ7 | |||||||||||
| RefSeq (mRNA) | NM_001042383 | NM_001081122 | |||||||||||
| RefSeq (protein) | NP_001035842 | NP_001074591 | |||||||||||
| Location (UCSC) | Chr 3: 134.2 – 134.29 Mb | Chr 9: 102.59 – 102.63 Mb | |||||||||||
| PubMed search | |||||||||||||
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]
References
- ↑ 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.
- ↑ 2.0 2.1 "Entrez Gene: CEP63 centrosomal protein 63kDa".
- ↑ 3.0 3.1 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.
Further reading
- Harrington JJ, Sherf B, Rundlett S, et al. (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.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Morris JA, Kandpal G, Ma L, Austin CP (2004). "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.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (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 (2006). "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.
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