RPGRIP1

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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
SCOP24qam / SCOPe / SUPFAM
Available protein structures:
Pfam  structures / ECOD  
PDBRCSB PDB; PDBe; PDBj
PDBsumstructure summary
RPGRIP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRPGRIP1, CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d, retinitis pigmentosa GTPase regulator interacting protein 1, RPGR interacting protein 1
External IDsOMIM: 605446 MGI: 1932134 HomoloGene: 10679 GeneCards: RPGRIP1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001168515
NM_023879

RefSeq (protein)

NP_001161987
NP_076368

Location (UCSC)Chr 14: 21.28 – 21.35 MbChr 14: 52.11 – 52.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene.[5][6] 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[7] and in the eye disease glaucoma.[8]

Interactions

RPGRIP1 has been shown to interact with Retinitis pigmentosa GTPase regulator.[9] 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.[10]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000092200 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057132 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. hdl:1842/23251. PMID 10958647.
  6. ^ "Entrez Gene: RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1".
  7. ^ 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.
  8. ^ 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.
  9. ^ 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.
  10. ^ 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. PMC 4519163. PMID 24981858.

Further reading

External links

  • PDBe-KB provides an overview of all the structure information available in the PDB for Human X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1)