RPGRIP1

RPGR interacting protein 1

Ensembl:
ENSG00000092200
UniProt:
Q96KN7
OMIM:
605446
Synonyms:
CORD13, LCA6, RGI1, RPGRIP

Cilia effects upon perturbation of RPGRIP1

Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
Leber congenital amaurosis; cone-rod dystrophy 13; retinitis pigmentosa; Leber congenital amaurosis 6; cone-rod dystrophy

Ciliopathy associations

  • Cone-Rod Dystrophy
  • Leber Congenital Amaurosis

Subcellular localization

basal body, cilia, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transition zone

Function

Known ciliopathy gene CORD13. Mutations are known causes of RP and Leber congenital amaurosis. Potential structural component of the ciliary axoneme, which anchors RPGR within the cilium (11104772, 15772089). Required for disk morphogenesis and RPGR retention in the connecting cilium (12651948). Essential for rod OS formation, probably by regulating the transport of proteins from the IS to the OS (19679561). Required for ciliary targeting of NPHP4 and SDCCAG8, Rab8 localisation in photoreceptors and is involved in rhodopsin ciliary vesicle transport in zebrafish (29203866).

Model organism evidence

C. elegans (1 reference)

We demonstrate that ARL-13 modulates JCE independently of cilia length.

PMIDs: 39925426

Danio rerio (1 reference)

Here, we dissected the mechanisms of scoliosis onset in a zebrafish mutant for the rpgrip1l gene encoding a ciliary transition zone protein.

PMIDs: 39388365

Mus musculus (2 references)

Structure of the N-terminal coiled-coil domains of the ciliary protein Rpgrip1l.

Previous studies have shown that SPATA7 interacts with other photoreceptor-specific ciliary proteins, such as RPGR and RPGRIP1, and maintains the integrity of CC integrity.

PMIDs: 36915689, 35368022