Retinitis pigmentosa GTPase regulator

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Retinitis pigmentosa GTPase regulator
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols RPGR ; COD1; CORDX1; CRD; PCDX; RP15; RP3; XLRP3; orf15
External IDs OMIM312610 MGI1344037 HomoloGene55455 GeneCards: RPGR Gene
RNA expression pattern
PBB GE RPGR 207624 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6103 19893
Ensembl ENSG00000156313 ENSMUSG00000031174
UniProt Q92834 Q9R0X5
RefSeq (mRNA) NM_000328 NM_001177950
RefSeq (protein) NP_000319 NP_001171421
Location (UCSC) Chr X:
38.13 – 38.19 Mb
Chr X:
10.07 – 10.22 Mb
PubMed search [1] [2]

X-linked retinitis pigmentosa GTPase regulator is an enzyme that in humans is encoded by the RPGR gene.[1][2][3]

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.[3]

Interactions[edit]

Retinitis pigmentosa GTPase regulator has been shown to interact with PDE6D[4] and RPGRIP1.[5]

References[edit]

  1. ^ Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MR, Achatz H, Hellebrand H, Lennon A, Migliaccio C, Porter K, Zrenner E, Bird A, Jay M, Lorenz B, Wittwer B, D'Urso M, Meitinger T, Wright A (August 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. 
  2. ^ Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W (January 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. doi:10.1093/hmg/5.7.1035. PMID 8817343. 
  3. ^ a b "Entrez Gene: RPGR retinitis pigmentosa GTPase regulator". 
  4. ^ Linari, M; Ueffing M, Manson F, Wright A, Meitinger T, Becker J (February 1999). "The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 96 (4): 1315–20. doi:10.1073/pnas.96.4.1315. ISSN 0027-8424. PMC 15460. PMID 9990021. 
  5. ^ Roepman, R; Bernoud-Hubac N, Schick D E, Maugeri A, Berger W, Ropers H H, Cremers F P, Ferreira P A (September 2000). "The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors". Hum. Mol. Genet. (ENGLAND) 9 (14): 2095–105. doi:10.1093/hmg/9.14.2095. ISSN 0964-6906. PMID 10958648. 

Further reading[edit]