Biology:CEP63
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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
- ↑ "Proteomic characterization of the human centrosome by protein correlation profiling". Nature 426 (6966): 570–4. Dec 2003. doi:10.1038/nature02166. PMID 14654843. Bibcode: 2003Natur.426..570A.
- ↑ 2.0 2.1 "Entrez Gene: CEP63 centrosomal protein 63kDa". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80254.
- ↑ 3.0 3.1 "Computational investigation of pathogenic nsSNPs in CEP63 protein". Gene 503 (1): 75–82. April 2012. doi:10.1016/j.gene.2012.04.032. PMID 22555018.
- ↑ "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. July 2003. 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
- "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. 2001. doi:10.1038/88107. PMID 11329013.
- "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. 2003. doi:10.1093/hmg/ddg162. PMID 12812986.
- "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. 2006. doi:10.1101/gr.4039406. PMID 16344560.
- "The transcripts of SFRP1,CEP63 and EIF4G2 genes are frequently downregulated in transitional cell carcinomas of the bladder". Oncology 69 (6): 445–54. 2005. doi:10.1159/000090984. PMID 16410684.
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