Protein Domain : IPR031139

Type:  Family Name:  RPGRIP1 family
Description:  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), is mutated in many different ciliopathies [, ]. Both are multidomain proteins that are predicted to interact with retinitis pigmentosa G-protein regulator (RPGR) []. 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 [].Both RPGRIP1 and RPGRIP1L interact with the ciliary transition zone protein nephrocystin 4 (NPHP4) via their C2C domain [, ]. An hypothesis is that RPGRIP1 and RPGRIP1L function as cilium-specific scaffolds that recruit a Nek4 signaling network which regulates cilium stability []. The expression of RPGRIP1 seems to be limited to photoreceptors and amacrine cells in the retina [], whereas RPGRIP1L is found in other tissues as well. Short Name:  RPGRIP1_fam
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3 Child Features

DB identifier Type Name
IPR031133 Family Protein fantom, invertebrates
IPR031134 Family Retinitis pigmentosa GTPase regulator-interacting protein 1
IPR031136 Family Protein fantom (RPGRIP1L)

0 Contains

1 Cross References

Identifier
PTHR14240

0 Found In

0 GO Annotation

0 Ontology Annotations

0 Parent Features

4 Proteins

DB identifier UniProt Accession Secondary Identifier Organism Name Length
65766 C1N6S3 PAC:27348692 Micromonas pusilla CCMP1545 722  
Cre14.g632050.t1.2 A0A2K3CYV6 PAC:30776160 Chlamydomonas reinhardtii 1962  
Cz07g29290.t1 PAC:38246065 Chromochloris zofingiensis 1956  
Vocar.0022s0202.1.p PAC:32891946 Volvox carteri 1826  

7 Publications

First Author Title Year Journal Volume Pages PubMed ID
            17558409
            16339905
            24981858
            17558407
            12874105
            21685204
            18281315