RPGRIP1

RPGRIP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4QAM
Identifiers
Aliases	RPGRIP1, CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d, retinitis pigmentosa GTPase regulator interacting protein 1
External IDs	MGI: 1932134 HomoloGene: 10679 GeneCards: RPGRIP1
Gene ontology Molecular function • protein binding Cellular component • axoneme • nonmotile primary cilium • cell projection • cilium • photoreceptor connecting cilium Biological process • retina development in camera-type eye • response to stimulus • visual perception • neural precursor cell proliferation • eye photoreceptor cell development Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	57096	77945
Ensembl	ENSG00000092200	ENSMUSG00000057132
UniProt	Q96KN7	Q9EPQ2
RefSeq (mRNA)	NM_020366	NM_001168515 NM_023879
RefSeq (protein)	NP_065099.3	NP_001161987.1 NP_076368.1
Location (UCSC)	Chr 14: 21.29 – 21.35 Mb	Chr 14: 52.11 – 52.16 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

View/Edit Mouse

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is an enzyme that in humans is encoded by the RPGRIP1 gene.^[3][4][5]

Interactions

RPGRIP1 has been shown to interact with Retinitis pigmentosa GTPase regulator.^[4]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. Boylan JP, Wright AF (Sep 2000). "Identification of a novel protein interacting with RPGR". Hum Mol Genet. 9 (14): 2085–93. doi:10.1093/hmg/9.14.2085. PMID 10958647.
4. Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA (Sep 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. doi:10.1093/hmg/9.14.2095. PMID 10958648.
5. "Entrez Gene: RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1".

Further reading

• 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. doi:10.1086/320113. PMC 1226111. 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. doi:10.1093/hmg/11.16.1899. 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. PMC 139241. 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. doi:10.1136/jmg.40.8.616. PMC 1735563. 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. PMC 528928. 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. PMC 1769350. 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. PMC 1769349. 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. PMC 1735944. 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. PMC 1317916. 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.
• Patil P, Guruju MR, Cho K, Yi H, Orry A, Kim H, Ferreira PA (2012). "Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms.". Biology Open. 1: 140–160. doi:10.1242/bio.2011489.