Retinitis pigmentosa GTPase regulator

From Wikipedia, the free encyclopedia

Identifiers

RPGR; CRD; COD1; CORDX1; PCDX; RP15; RP3; XLRP3; orf15

External IDs

OMIM: 312610 MGI: 1344037 HomoloGene: 55455

Gene ontology
Molecular Function:	• guanyl-nucleotide exchange factor activity • protein binding
Cellular Component:	• Golgi apparatus
Biological Process:	• intracellular protein transport • visual perception • sensory perception of sound • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_000328 (mRNA)
NP_000319 (protein)

NM_011285 (mRNA)
NP_035415 (protein)

Location

Chr X: 38.01 - 38.07 Mb

n/a

Pubmed search

[1]

[2]

Retinitis pigmentosa GTPase regulator, also known as RPGR, is a human gene.^[1]

This gene encodes a protein with a series of six RCC1-like domains (RLDs), 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.^[1]

[edit] References

^ ^a ^b Entrez Gene: RPGR retinitis pigmentosa GTPase regulator.

[edit] Further reading

Jin ZB, Hayakawa M, Murakami A, Nao-i N (2007). "RCC1-like domain and ORF15: essentials in RPGR gene.". Adv. Exp. Med. Biol. 572: 29–33. PMID 17249551.
Ott J, Bhattacharya S, Chen JD, et al. (1990). "Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests.". Proc. Natl. Acad. Sci. U.S.A. 87 (2): 701–4. PMID 2300556.
McGuire RE, Sullivan LS, Blanton SH, et al. (1995). "X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11.". Am. J. Hum. Genet. 57 (1): 87–94. PMID 7611300.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298.
Meindl A, Dry K, Herrmann K, et al. (1996). "A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).". Nat. Genet. 13 (1): 35–42. doi:10.1038/ng0596-35. PMID 8673101.
Roepman R, van Duijnhoven G, Rosenberg T, et al. (1997). "Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.". Hum. Mol. Genet. 5 (7): 1035–41. PMID 8817343.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
Fujita R, Buraczynska M, Gieser L, et al. (1997). "Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.". Am. J. Hum. Genet. 61 (3): 571–80. PMID 9326322.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149.
Buraczynska M, Wu W, Fujita R, et al. (1998). "Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.". Am. J. Hum. Genet. 61 (6): 1287–92. PMID 9399904.
Hardcastle AJ, David-Gray ZK, Jay M, et al. (1998). "Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.". Invest. Ophthalmol. Vis. Sci. 38 (13): 2750–5. PMID 9418727.
Yan D, Swain PK, Breuer D, et al. (1998). "Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr).". J. Biol. Chem. 273 (31): 19656–63. PMID 9677393.
Fishman GA, Grover S, Jacobson SG, et al. (1998). "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 (12): 2286–96. doi:10.1016/S0161-6420(98)91231-3. PMID 9855162.
Linari M, Ueffing M, Manson F, et al. (1999). "The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase.". Proc. Natl. Acad. Sci. U.S.A. 96 (4): 1315–20. PMID 9990021.
Dry KL, Manson FD, Lennon A, et al. (1999). "Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3).". Hum. Mutat. 13 (2): 141–5. doi:10.1002/(SICI)1098-1004(1999)13:2<141::AID-HUMU6>3.0.CO;2-Q. PMID 10094550.
Kirschner R, Rosenberg T, Schultz-Heienbrok R, et al. (1999). "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 (8): 1571–8. PMID 10401007.
Zito I, Thiselton DL, Gorin MB, et al. (1999). "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 (1-2): 57–62. PMID 10480356.
Miano MG, Testa F, Strazzullo M, et al. (1999). "Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.". Eur. J. Hum. Genet. 7 (6): 687–94. doi:10.1038/sj.ejhg.5200352. PMID 10482958.
Hong DH, Pawlyk BS, Shang J, et al. (2000). "A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3).". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3649–54. doi:10.1073/pnas.060037497. PMID 10725384.
Zito I, Gorin MB, Plant C, et al. (2000). "Novel mutations of the RPGR gene in RP3 families.". Hum. Mutat. 15 (4): 386. doi:10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU23>3.0.CO;2-4. PMID 10737996.