RPGRIP1
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
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]
Crystal structure of the RPGR-interacting domain (RID) of RPGRIP1, PDB code 4qam. Alpha helices are in red, beta strands in gold. | |||||||
| Identifiers | |||||||
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| Symbol | X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 | ||||||
| Pfam | PF00168 | ||||||
| InterPro | IPR031134 | ||||||
| CATH | 4qam | ||||||
| SCOP2 | 4qam / SCOPe / SUPFAM | ||||||
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| RPGRIP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | RPGRIP1, CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d, retinitis pigmentosa GTPase regulator interacting protein 1, RPGR interacting protein 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605446; MGI: 1932134; HomoloGene: 10679; GeneCards: RPGRIP1; OMA:RPGRIP1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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]
