RPGRIP1

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. RPGRIP1 is a Protein [quaternary structure|multi-domain protein] containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain. Defects in the gene result in the Leber's [congenital amaurosis|Leber congenital amaurosis] syndrome and in the eye disease glaucoma.

Interactions

RPGRIP1 has been shown to interact with Retinitis pigmentosa GTPase regulator. RPGRIP1 interacts with RPGR via its RPGR-interacting domain, 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.