RP1

Cilia effects upon perturbation of RP1

Cilia number / % ciliated:

Unknown

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Unknown

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.11) 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:

retinitis pigmentosa; retinitis pigmentosa 1; autosomal recessive retinitis pigmentosa

Ciliopathy associations

• Cone-Rod Dystrophy
• Retinal Dystrophy/Degeneration

References: PMID:10391211, PMID:36284460, PMID:30913292, PMID:38091967, PMID:1789630, PMID:20664799

Subcellular localization

cilia

References: PMID:15269252, PMID:11773008, PMID:19657028

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

Nonsense mutation associated with retinitis pigmentosa (10401003). Microtubule- associated protein containing the doublecortin (DCX) domain. Disruption of Rp1 in mice causes misorientation of outer segment discs, suggesting a role in outer segment organisation. Stimulates microtubule polymerization and stabilise existing in vitro and in vivo, therefore, it controls the length and stability of the photoreceptor axoneme (15269252). Due to Rp1 localisation, it may be involved in the formation of outer segments (11773008). Plays synergistic role with Rp1L1 in affecting photosensitivity and OS morphogenesis of rod photoreceptors (19657028).