Retinitis pigmentosa GTPase regulator

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RPGR
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases RPGR, COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15, Retinitis pigmentosa GTPase regulator
External IDs MGI: 1344037 HomoloGene: 55455 GeneCards: RPGR
Gene location (Human)
X chromosome (human)
Chr. X chromosome (human)[1]
X chromosome (human)
Genomic location for RPGR
Genomic location for RPGR
Band Xp11.4 Start 38,269,163 bp[1]
End 38,327,564 bp[1]
RNA expression pattern
PBB GE RPGR 207624 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000328
NM_001023582
NM_001034853

RefSeq (protein)

NP_000319
NP_001030025

Location (UCSC) Chr X: 38.27 – 38.33 Mb Chr X: 10.07 – 10.22 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene.[5][6][7][8]

Function[edit]

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.[8]

Interactions[edit]

Retinitis pigmentosa GTPase regulator has been shown to interact with PDE6D[9] nephronophthisis (NPHP) proteins[10] and RPGRIP1.[11]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000156313 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031174 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ 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. PMC 2928130Freely accessible. PMID 20631154. 
  8. ^ a b "Entrez Gene: RPGR retinitis pigmentosa GTPase regulator". 
  9. ^ 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 15460Freely accessible. PMID 9990021. 
  10. ^ 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. PMC 2905641Freely accessible. PMID 20664800. 
  11. ^ 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[edit]