RPGRIP1

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

References: PMID:12920076, PMID:11528500, PMID:22183349, PMID:31630094, PMID:25414380, PMID:15370538, PMID:20301475, PMID:12015276, PMID:37240262, PMID:15231395, PMID:36369640

Subcellular localization

basal body, cilia, transition zone, ciliary tip

References: PMID:41005307, PMID:11104772, PMID:12651948, PMID:19679561, PMID:29203866

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).