PCARE

photoreceptor cilium actin regulator

Ensembl:
ENSG00000179270
UniProt:
A6NGG8
OMIM:
613425
Synonyms:
C2ORF71, FLJ34931, RP54

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

Functional category

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

Function

Also called C2ORF71. Predomi ntly expressed in the reti . 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)

Model organism evidence

Mus musculus (1 reference)

One genetic subtype of RP, RP54, has been linked to mutations in PCARE (photoreceptor cilium actin regulator).

PMIDs: 35253837

Danio rerio (1 reference)

We have recently discovered that the protein encoded by this gene is important for modulation of the ciliary membrane through the recruitment of an actin assembly module, and have therefore renamed the gene to PCARE (photoreceptor cilium actin regulator).

PMIDs: 29946172