F
IPR026201

Centrosomal protein of 290kDa

InterPro entry
Short nameCep290

Description

Centrosomal protein of 290kDa (Cep290) is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. It activates ATF4-mediated transcription. It is required for the correct localisation of ciliary and phototransduction proteins in retinal photoreceptor cells and may play a role in ciliary transport processes
[1, 2, 3]
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References

1.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. 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. Hum. Mol. Genet. 15, 1847-57, (2006). View articlePMID: 16632484

2.Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK. Cell 145, 513-28, (2011). View articlePMID: 21565611

3.A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, Garcia-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF. Nat. Genet. 43, 776-84, (2011). View articlePMID: 21725307

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