Protein-coding gene in the species Homo sapiens
CEP290 |
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Identifiers |
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Aliases | CEP290, 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16, centrosomal protein 290 |
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External IDs | OMIM: 610142; MGI: 2384917; HomoloGene: 77213; GeneCards: CEP290; OMA:CEP290 - orthologs |
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Wikidata |
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Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene.[5][6][7][8] CEP290 is located on the Q arm of chromosome 12.
- ^ a b c GRCh38: Ensembl release 89: ENSG00000198707 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019971 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ 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. S2CID 16941062.
- ^ 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.
- ^ "Entrez Gene: CEP290 centrosomal protein 290kDa".