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Retinitis Pigmentosa GTPase Regulator (RPGR)

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CRD; COD1; CORDX1; PCDX; RP15; RP3; XLRP3; Orf15; Retinitis Pigmentosa 15; Cone Dystrophy 1(X-Linked); X-linked retinitis pigmentosa GTPase regulator

Retinitis Pigmentosa GTPase Regulator (RPGR)
CCC F777
HGNC 10295
MGI 1344037
PubMed 21933838
UniProt Q92834
Wiki RPGR
RPGR encodes a protein with a series of six RCC1-like domains, characteristic of the highly conserved guanine nucleotide exchange factors. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined.The predicted 90-kD RPGR protein contains in its N-terminal half a tandem repeat structure highly similar to the regulator of chromosome condensation (RCC1), which regulates the GTPase RAN. The C terminus of the protein contains a cluster of basic residues followed by a consensus isoprenylation site. The authors noted that confirmation of the isoprenylation of this site would establish a novel means of membrane anchorage for a GTPase regulator.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Retinitis Pigmentosa GTPase Regulator (RPGR) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Retinitis Pigmentosa GTPase Regulator (RPGR) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Retinitis Pigmentosa GTPase Regulator (RPGR) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Retinitis Pigmentosa GTPase Regulator (RPGR) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinitis Pigmentosa GTPase Regulator (RPGR) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Retinitis Pigmentosa GTPase Regulator (RPGR) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Retinitis Pigmentosa GTPase Regulator (RPGR) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Retinitis Pigmentosa GTPase Regulator (RPGR) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Retinitis Pigmentosa GTPase Regulator (RPGR) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinitis Pigmentosa GTPase Regulator (RPGR) ELISA Kit Customized Service Offer
  1. "A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)."Nat. Genet. 13:35-42(1996) [PubMed] [Europe PMC] [Abstract]
  2. "Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1."Hum. Mol. Genet. 5:1035-1041(1996) [PubMed] [Europe PMC] [Abstract]
  3. "RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa."Hum. Mol. Genet. 8:1571-1578(1999) [PubMed] [Europe PMC] [Abstract]
  4. "DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements."Hum. Genet. 109:271-278(2001) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa."Nat. Genet. 25:462-466(2000) [PubMed] [Europe PMC] [Abstract]
  8. "The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase."Proc. Natl. Acad. Sci. U.S.A. 96:1315-1320(1999) [PubMed] [Europe PMC] [Abstract]
  9. "Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15."Am. J. Hum. Genet. 67:1000-1003(2000) [PubMed] [Europe PMC] [Abstract]
  10. "The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors."Hum. Mol. Genet. 9:2095-2105(2000) [PubMed] [Europe PMC] [Abstract]
  11. "X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15."Am. J. Hum. Genet. 70:1049-1053(2002) [PubMed] [Europe PMC] [Abstract]
  12. "X-linked recessive atrophic macular degeneration from RPGR mutation."Genomics 80:166-171(2002) [PubMed] [Europe PMC] [Abstract]
  13. "Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species."Hum. Mol. Genet. 11:1899-1907(2002) [PubMed] [Europe PMC] [Abstract]
  14. "RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections."J. Med. Genet. 40:609-615(2003) [PubMed] [Europe PMC] [Abstract]
  15. "RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin."Hum. Mol. Genet. 14:1183-1197(2005) [PubMed] [Europe PMC] [Abstract]
  16. "RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins."J. Biol. Chem. 280:33580-33587(2005) [PubMed] [Europe PMC] [Abstract]
  17. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  18. "A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies." Nat. Genet. 41:739-745(2009) [PubMed] [Europe PMC] [Abstract]
  19. "The role of RPGR in cilia formation and actin stability."Hum. Mol. Genet. 20:4840-4850(2011) [PubMed] [Europe PMC] [Abstract]
  20. "The interplay between RPGR, PDE? and Arl2/3 regulate the ciliary targeting of farnesylated cargo."EMBO Rep. 14:465-472(2013) [PubMed] [Europe PMC] [Abstract]
  21. "C2 domains as protein-protein interaction modules in the ciliary transition zone."Cell Rep. 8:1-9(2014) [PubMed] [Europe PMC] [Abstract]
  22. "Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa."Am. J. Hum. Genet. 61:1287-1292(1997) [PubMed] [Europe PMC] [Abstract]
  23. "X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60."Ophthalmology 105:2286-2296(1998) [PubMed] [Europe PMC] [Abstract]
  24. "Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa."Eur. J. Hum. Genet. 7:687-694(1999) [PubMed] [Europe PMC] [Abstract]
  25. "Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus."Hum. Genet. 105:57-62(1999) [PubMed] [Europe PMC] [Abstract]
  26. "Novel mutations of the RPGR gene in RP3 families."Hum. Mutat. 15:386-386(2000) [PubMed] [Europe PMC] [Abstract]
  27. "Sequence variation within the RPGR gene: evidence for a founder complex allele."Hum. Mutat. 16:273-274(2000) [PubMed] [Europe PMC] [Abstract]
  28. "X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function."Invest. Ophthalmol. Vis. Sci. 41:2712-2721(2000) [PubMed] [Europe PMC] [Abstract]
  29. "Five novel RPGR mutations in families with X-linked retinitis pigmentosa."Hum. Mutat. 17:151-151(2001) [PubMed] [Europe PMC] [Abstract]
  30. "A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa." Am. J. Hum. Genet. 70:1545-1554(2002) [PubMed] [Europe PMC] [Abstract]
  31. "RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa."Am. J. Hum. Genet. 73:1131-1146(2003) [PubMed] [Europe PMC] [Abstract]
  32. "X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15."Invest. Ophthalmol. Vis. Sci. 44:1458-1463(2003) [PubMed] [Europe PMC] [Abstract]
  33. "Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation."J. Med. Genet. 40:E118-E118(2003) [PubMed] [Europe PMC] [Abstract]