RPGRIP1

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File:Human RPGRIP1 C2 domain.png
Crystal structure of the RPGR-interacting domain (RID) of RPGRIP1, PDB code 4qam. Alpha helices are in red, beta strands in gold.
Identifiers
SymbolX-linked retinitis pigmentosa GTPase regulator-interacting protein 1
PfamPF00168
InterProIPR031134
CATH4qam
SCOP4qam
SUPERFAMILY4qam
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is an protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene.[1][2] RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome[3] and in the eye disease glaucoma.[4]

Interactions

RPGRIP1 has been shown to interact with Retinitis pigmentosa GTPase regulator.[5] RPGRIP1 interacts with RPGR via its RPGR-interacting domain (RID), which folds into a C2 domain architecture and interacts with RPGR at three different locations: A β strand of the RID interacting with the large loop of RPGR, at a hydrophobic interaction site, and via the N-terminal region of the RID.[6]

References

  1. Boylan JP, Wright AF (September 2000). "Identification of a novel protein interacting with RPGR". Human Molecular Genetics. 9 (14): 2085–93. doi:10.1093/hmg/9.14.2085. PMID 10958647.
  2. "Entrez Gene: RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1".
  3. Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, Li T, Andréasson S, Berson EL (May 2001). "Null RPGRIP1 alleles in patients with Leber congenital amaurosis". American Journal of Human Genetics. 68 (5): 1295–8. doi:10.1086/320113. PMC 1226111. PMID 11283794.
  4. Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F (April 2011). "Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma". European Journal of Human Genetics. 19 (4): 445–51. doi:10.1038/ejhg.2010.217. PMC 3060327. PMID 21224891.
  5. Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA (September 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.
  6. Remans K, Bürger M, Vetter IR, Wittinghofer A (July 2014). "C2 domains as protein-protein interaction modules in the ciliary transition zone". Cell Reports. 8 (1): 1–9. doi:10.1016/j.celrep.2014.05.049. PMID 24981858.

Further reading


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