CEP290

Centrosomal protein 290kDa
Identifiers
Symbols	CEP290 ; 3H11Ag; FLJ13615; FLJ21979; JBTS5; JBTS6; KIAA0373; LCA10; NPHP6; SLSN6; rd16
External IDs	Template:OMIM5 HomoloGene: 77213
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Centrosomal protein 290kDa, also known as CEP290, is a human gene.

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.

Further reading

• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• 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. PMID 9205841.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11149944.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 14623284.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Guo J, Jin G, Meng L; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chang B, Khanna H, Hawes N; et al. (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. PMID 16632484.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sayer JA, Otto EA, O'Toole JF; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 16909394.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 17564967.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)