Failed to serialize data. X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome and in the eye disease glaucoma.

Interactions

RPGRIP1 has been shown to interact with Retinitis pigmentosa GTPase regulator. RPGRIP1 interacts with RPGR via its RPGR-interacting domain (RID), which folds into a C2 domain architecture and interacts with RPGR at three different locations: A β strand of the RID interacting with the large loop of RPGR, at a hydrophobic interaction site, and via the N-terminal region of the RID.

Further reading

  • Hong DH, Yue G, Adamian M, Li T (April 2001). . The Journal of Biological Chemistry. 276 (15): 12091–9. doi:. PMID .
  • Gerber S, Perrault I, Hanein S, Barbet F, Ducroq D, Ghazi I, Martin-Coignard D, Leowski C, Homfray T, Dufier JL, Munnich A, Kaplan J, Rozet JM (August 2001). . European Journal of Human Genetics. 9 (8): 561–71. doi:. PMID .
  • Mavlyutov TA, Zhao H, Ferreira PA (August 2002). "Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species". Human Molecular Genetics. 11 (16): 1899–907. doi:. PMID .
  • Hameed A, Abid A, Aziz A, Ismail M, Mehdi SQ, Khaliq S (August 2003). . Journal of Medical Genetics. 40 (8): 616–9. doi:. PMC . PMID .
  • Shu X, Fry AM, Tulloch B, Manson FD, Crabb JW, Khanna H, Faragher AJ, Lennon A, He S, Trojan P, Giessl A, Wolfrum U, Vervoort R, Swaroop A, Wright AF (May 2005). . Human Molecular Genetics. 14 (9): 1183–97. doi:. PMID .
  • Lu X, Guruju M, Oswald J, Ferreira PA (May 2005). . Human Molecular Genetics. 14 (10): 1327–40. doi:. PMC . PMID .
  • Lu X, Ferreira PA (June 2005). . Investigative Ophthalmology & Visual Science. 46 (6): 1882–90. doi:. PMC . PMID .
  • Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:. doi:. PMID . S2CID .
  • Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, van Schooneveld MJ, de Jong PT, Bergen AA (November 2005). . Journal of Medical Genetics. 42 (11): e67. doi:. PMC . PMID .
  • Roepman R, Letteboer SJ, Arts HH, van Beersum SE, Lu X, Krieger E, Ferreira PA, Cremers FP (December 2005). . Proceedings of the National Academy of Sciences of the United States of America. 102 (51): 18520–5. Bibcode:. doi:. PMC . PMID .
  • Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Roman AJ, Stone EM (May 2007). "Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential". Ophthalmology. 114 (5): 895–8. doi:. PMID .
  • Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R (July 2007). "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome". Nature Genetics. 39 (7): 882–8. doi:. PMID . S2CID .
  • Patil H, Guruju MR, Cho KI, Yi H, Orry A, Kim H, Ferreira PA (February 2012). . Biology Open. 1 (2): 140–60. doi:. PMC . PMID .

External links

  • provides an overview of all the structure information available in the PDB for Human X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1)