PCARE

Cilia effects upon perturbation of PCARE

Cilia number / % ciliated:

Unknown

Loss-of-function effect:

Unknown

Overexpression effect:

Longer cilia

Phenotypes

Human ciliopathy phenotype:

retinitis pigmentosa

Subcellular localization

cilia

References: PMID:32312818, PMID:20398886, PMID:29946172

Functional category

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

Function

Also called C2ORF71. Predominantly expressed in the retina. Important for photoreceptor outer segment morphogenesis and visual function in zebrafish (29946172). Interacts with WASF3 and recruits it to the primary cilium, coexpression results in expansion of the ciliary tip (32312818). Mutations are associated with retinitis pigmentosa (20398886). Arp2/3 complex activator. PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation. Ectopic coexpression of PCARE and WASF3 in ciliated cells results in the remarkable expansion of the ciliary tip. This process was disrupted by small interfering RNA (siRNA)-based down-regulation of an actin regulator, by pharmacological inhibition of actin polymerization, and by the expression of PCARE harboring a retinal dystrophy-associated missense mutation. (32312818)