CEP290

Centrosomal protein 290kDa
Identifiers
Symbols	CEP290; 3H11Ag; BBS14; CT87; FLJ13615; FLJ21979; JBTS5; JBTS6; KIAA0373; LCA10; MKS4; NPHP6; POC3; SLSN6; rd16
External IDs	OMIM: 610142 HomoloGene: 77213 GeneCards: CEP290 Gene
Gene Ontology Molecular function • protein binding • microtubule minus-end binding Cellular component • gamma-tubulin complex • nucleus • cytoplasm • centrosome • cytosol • cytosol • cytoskeleton • cilium • cell surface • photoreceptor connecting cilium Biological process • G2/M transition of mitotic cell cycle • mitotic cell cycle • protein transport • cell projection organization • hindbrain development • otic vesicle formation • eye photoreceptor cell development • positive regulation of transcription, DNA-dependent • pronephros development Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	80184	n/a
Ensembl	ENSG00000198707	n/a
UniProt	O15078	n/a
RefSeq (mRNA)	NM_025114	n/a
RefSeq (protein)	NP_079390	n/a
Location (UCSC)	Chr 12: 88.44 – 88.54 Mb	n/a
PubMed search	[1]	n/a

Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene.^[1][2][3][4]

This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis, and recently with a frequent form of Leber's Congenital Amaurosis, called LCA10. The presence of antibodies against this protein is associated with several forms of cancer.^[4]

External Links

• GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome

References

1. ^ Guo J, Jin G, Meng L, Ma H, Nie D, Wu J, Yuan L, Shou C (Oct 2004). "Subcellullar localization of tumor-associated antigen 3H11Ag". Biochem Biophys Res Commun 324 (2): 922–30. doi:10.1016/j.bbrc.2004.09.133. PMID 15474516. 
2. ^ Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F (May 2006). "The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4". Nat Genet 38 (6): 674–81. doi:10.1038/ng1786. PMID 16682973. 
3. ^ Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A (May 2006). "In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse". Hum Mol Genet 15 (11): 1847–57. doi:10.1093/hmg/ddl107. PMC 1592550. PMID 16632484. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1592550. 
4. ^ ^{a b} "Entrez Gene: CEP290 centrosomal protein 290kDa". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80184. 

Further reading

• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548. 
• Nagase T, Ishikawa K, Nakajima D, et al. (1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.". DNA Res. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841. 
• Eichmuller S, Usener D, Dummer R, et al. (2001). "Serological detection of cutaneous T-cell lymphoma-associated antigens.". Proc. Natl. Acad. Sci. U.S.A. 98 (2): 629–34. doi:10.1073/pnas.021386498. PMC 14639. PMID 11149944. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=14639. 
• Chen D, Shou C (2001). "Molecular cloning of a tumor-associated antigen recognized by monoclonal antibody 3H11.". Biochem. Biophys. Res. Commun. 280 (1): 99–103. doi:10.1006/bbrc.2000.4087. PMID 11162484. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Shin BK, Wang H, Yim AM, et al. (2003). "Global profiling of the cell surface proteome of cancer cells uncovers an abundance of proteins with chaperone function.". J. Biol. Chem. 278 (9): 7607–16. doi:10.1074/jbc.M210455200. PMID 12493773. 
• Millar JK, Christie S, Porteous DJ (2004). "Yeast two-hybrid screens implicate DISC1 in brain development and function.". Biochem. Biophys. Res. Commun. 311 (4): 1019–25. doi:10.1016/j.bbrc.2003.10.101. PMID 14623284. 
• Andersen JS, Wilkinson CJ, Mayor T, et al. (2003). "Proteomic characterization of the human centrosome by protein correlation profiling.". Nature 426 (6966): 570–4. doi:10.1038/nature02166. PMID 14654843. 
• 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. 
• Scherer SE, Muzny DM, Buhay CJ, et al. (2006). "The finished DNA sequence of human chromosome 12.". Nature 440 (7082): 346–51. doi:10.1038/nature04569. PMID 16541075. 
• Valente EM, Silhavy JL, Brancati F, et al. (2006). "Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.". Nat. Genet. 38 (6): 623–5. doi:10.1038/ng1805. PMID 16682970. 
• den Hollander AI, Koenekoop RK, Yzer S, et al. (2006). "Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.". Am. J. Hum. Genet. 79 (3): 556–61. doi:10.1086/507318. PMC 1559533. PMID 16909394. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1559533. 
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. 
• Perrault I, Delphin N, Hanein S, et al. (2007). "Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.". Hum. Mutat. 28 (4): 416. doi:10.1002/humu.9485. PMID 17345604. 
• Tory K, Lacoste T, Burglen L, et al. (2007). "High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.". J. Am. Soc. Nephrol. 18 (5): 1566–75. doi:10.1681/ASN.2006101164. PMID 17409309. 
• Cideciyan AV, Aleman TS, Jacobson SG, et al. (2007). "Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.". Hum. Mutat. 28 (11): 1074–83. doi:10.1002/humu.20565. PMID 17554762. 
• Brancati F, Barrano G, Silhavy JL, et al. (2007). "CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.". Am. J. Hum. Genet. 81 (1): 104–13. doi:10.1086/519026. PMC 1950920. PMID 17564967. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1950920.