RPGRIP1
Protein-coding gene in the species Homo sapiens
| RPGRIP1 | |||||||||||||||||||||||||||||||
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| 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; GeneCards: RPGRIP1 | ||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||
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 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 and in the eye disease glaucoma.
01Interactions
RPGRIP1 has been shown to interact with Retinitis pigmentosa GTPase regulator. 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.
Sources and credits
This article is adapted from the Wikipedia article “RPGRIP1”, written by its contributors and licensed under CC BY-SA 4.0. Fathomly has changed the layout, removed citation markers, navigation and maintenance notices, and adjusted punctuation. This adapted version is shared under the same license. For references, see the original article.
Images, from Wikimedia Commons:
- Human RPGRIP1 C2 domain.png by Tanezrouft, CC BY-SA 4.0
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