Retinitis pigmentosa GTPase regulator

Retinitis pigmentosa GTPase regulator
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols RPGR ; COD1; CORDX1; CRD; PCDX; RP15; RP3; XLRP3; orf15
External IDs OMIM: 312610 MGI: 1344037 HomoloGene: 55455 GeneCards: RPGR Gene
RNA expression pattern
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:
38.27 – 38.33 Mb
Chr X:
10.07 – 10.22 Mb
PubMed search

X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene.[1][2][3][4]

Function

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.[4]

Interactions

Retinitis pigmentosa GTPase regulator has been shown to interact with PDE6D[5] nephronophthisis (NPHP) proteins[6] and RPGRIP1.[7]

References

  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 (May 1996). "A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)". Nature Genetics 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 (Jul 1996). "Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1". Human Molecular Genetics 5 (7): 1035–41. doi:10.1093/hmg/5.7.1035. PMID 8817343.
  3. Murga-Zamalloa CA, Atkins SJ, Peranen J, Swaroop A, Khanna H (Sep 2010). "Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration". Human Molecular Genetics 19 (18): 3591–8. doi:10.1093/hmg/ddq275. PMID 20631154.
  4. 1 2 "Entrez Gene: RPGR retinitis pigmentosa GTPase regulator".
  5. Linari M, Ueffing M, Manson F, Wright A, Meitinger T, Becker J (Feb 1999). "The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase". Proceedings of the National Academy of Sciences of the United States of America 96 (4): 1315–20. doi:10.1073/pnas.96.4.1315. PMC 15460. PMID 9990021.
  6. Murga-Zamalloa CA, Desai NJ, Hildebrandt F, Khanna H (July 2010). "Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas". Molecular Vision 16: 1373–81. PMID 20664800.
  7. 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". Human Molecular Genetics 9 (14): 2095–105. doi:10.1093/hmg/9.14.2095. PMID 10958648.

Further reading


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