RPGRIP1 family (IPR031139)

Short name: RPGRIP1_fam

Overlapping homologous superfamilies


Family relationships


RPGR-interacting protein 1 (RPGRIP1) is mutated in the eye disease Leber congenital amaurosis (LCA) and its structural homologue, RPGRIP1-like (RPGRIP1L, also called NPHP8 or fantom), is mutated in many different ciliopathies [PMID: 17558409, PMID: 18281315]. Both are multidomain proteins that are predicted to interact with retinitis pigmentosa G-protein regulator (RPGR) [PMID: 24981858]. Both consist of an N-terminal coiled coil domain, two C2 domains (C2N and C2C), and a C-terminal RPGR-interacting domain (RID). RID is a C2 domain with a canonical beta sandwich structure that does not bind Ca2+ and/or phospholipids and thus constitutes a unique type of protein-protein interaction module [PMID: 24981858].

Both RPGRIP1 and RPGRIP1L interact with the ciliary transition zone protein nephrocystin 4 (NPHP4) via their C2C domain [PMID: 17558407, PMID: 16339905]. An hypothesis is that RPGRIP1 and RPGRIP1L function as cilium-specific scaffolds that recruit a Nek4 signaling network which regulates cilium stability [PMID: 21685204]. The expression of RPGRIP1 seems to be limited to photoreceptors and amacrine cells in the retina [PMID: 12874105], whereas RPGRIP1L is found in other tissues as well.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.