Centrosomal protein 290kDa
Symbols CEP290; 3H11Ag; BBS14; CT87; FLJ13615; FLJ21979; JBTS5; JBTS6; KIAA0373; LCA10; MKS4; NPHP6; POC3; SLSN6; rd16
External IDs OMIM610142 HomoloGene77213 GeneCards: CEP290 Gene
RNA expression pattern
PBB GE CEP290 205250 s at tn.png
PBB GE CEP290 221683 s at tn.png
More reference expression data
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
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


  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

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