RPGRIP1

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Retinitis pigmentosa GTPase regulator interacting protein 1
Identifiers
Symbol(s) RPGRIP1; CORD9; DKFZp686P0897; LCA6; RGI1; RGRIP; RPGRIP; RPGRIP1d
External IDs OMIM: 605446 MGI: 1932134 HomoloGene: 10679
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 57096 77945
Ensembl ENSG00000092200 n/a
Uniprot Q96KN7 n/a
Refseq NM_020366 (mRNA)
NP_065099 (protein)		 NM_023879 (mRNA)
NP_076368 (protein)
Location Chr 14: 20.83 - 20.89 Mb n/a
Pubmed search [1] [2]

Retinitis pigmentosa GTPase regulator interacting protein 1, also known as RPGRIP1, is a human gene.[1]


[edit] References

  1. ^ Entrez Gene: RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1.

[edit] Further reading

  • Boylan JP, Wright AF (2000). "Identification of a novel protein interacting with RPGR.". Hum. Mol. Genet. 9 (14): 2085–93. PMID 10958647. 
  • Roepman R, Bernoud-Hubac N, Schick DE, et al. (2000). "The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.". Hum. Mol. Genet. 9 (14): 2095–105. PMID 10958648. 
  • Hong DH, Yue G, Adamian M, Li T (2001). "Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium.". J. Biol. Chem. 276 (15): 12091–9. doi:10.1074/jbc.M009351200. PMID 11104772. 
  • Dryja TP, Adams SM, Grimsby JL, et al. (2001). "Null RPGRIP1 alleles in patients with Leber congenital amaurosis.". Am. J. Hum. Genet. 68 (5): 1295–8. PMID 11283794. 
  • Gerber S, Perrault I, Hanein S, et al. (2001). "Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.". Eur. J. Hum. Genet. 9 (8): 561–71. doi:10.1038/sj.ejhg.5200689. PMID 11528500. 
  • Mavlyutov TA, Zhao H, Ferreira PA (2003). "Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.". Hum. Mol. Genet. 11 (16): 1899–907. PMID 12140192. 
  • 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. 
  • Hameed A, Abid A, Aziz A, et al. (2003). "Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.". J. Med. Genet. 40 (8): 616–9. PMID 12920076. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Shu X, Fry AM, Tulloch B, et al. (2005). "RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.". Hum. Mol. Genet. 14 (9): 1183–97. doi:10.1093/hmg/ddi129. PMID 15772089. 
  • Lu X, Guruju M, Oswald J, Ferreira PA (2005). "Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis.". Hum. Mol. Genet. 14 (10): 1327–40. doi:10.1093/hmg/ddi143. PMID 15800011. 
  • Lu X, Ferreira PA (2005). "Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization.". Invest. Ophthalmol. Vis. Sci. 46 (6): 1882–90. doi:10.1167/iovs.04-1286. PMID 15914599. 
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 
  • Booij JC, Florijn RJ, ten Brink JB, et al. (2006). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.". J. Med. Genet. 42 (11): e67. doi:10.1136/jmg.2005.035121. PMID 16272259. 
  • Roepman R, Letteboer SJ, Arts HH, et al. (2006). "Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.". Proc. Natl. Acad. Sci. U.S.A. 102 (51): 18520–5. doi:10.1073/pnas.0505774102. PMID 16339905. 
  • Jacobson SG, Cideciyan AV, Aleman TS, et al. (2007). "Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.". Ophthalmology 114 (5): 895–8. doi:10.1016/j.ophtha.2006.10.028. PMID 17306875. 
  • Arts HH, Doherty D, van Beersum SE, et al. (2007). "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.". Nat. Genet. 39 (7): 882–8. doi:10.1038/ng2069. PMID 17558407. 
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