RPGRIP1

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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
Symbol X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Pfam PF00168
InterPro IPR031134
CATH 4qam
SCOP 4qam
SUPERFAMILY 4qam
RPGRIP1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases RPGRIP1, CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d, retinitis pigmentosa GTPase regulator interacting protein 1, RPGR interacting protein 1
External IDs MGI: 1932134 HomoloGene: 10679 GeneCards: RPGRIP1
Gene location (Human)
Chromosome 14 (human)
Chr. Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for RPGRIP1
Genomic location for RPGRIP1
Band 14q11.2 Start 21,287,939 bp[1]
End 21,351,301 bp[1]
RNA expression pattern
PBB GE RPGRIP1 206608 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020366

NM_001168515
NM_023879

RefSeq (protein)

NP_065099

NP_001161987
NP_076368

Location (UCSC) Chr 14: 21.29 – 21.35 Mb Chr 14: 52.11 – 52.16 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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.[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[edit]

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[edit]

  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:". 
  4. ^ "Mouse PubMed Reference:". 
  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. 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 1226111Freely accessible. 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 3060327Freely accessible. 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. PMID 24981858. 

Further reading[edit]