POC5

Cilia effects upon perturbation of POC5

Cilia number / % ciliated:

Unknown

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Unknown

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=3.04) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

abnormal ovary morphology, decreased exploration in new environment, decreased prepulse inhibition, preweaning lethality, incomplete penetrance

Human ciliopathy phenotype:

retinal dystrophy; adolescent idiopathic scoliosis (spine)

Ciliopathy associations

• Retinal Dystrophy/Degeneration

References: PMID:40590205, PMID:40590205

Subcellular localization

basal body, centrosome

References: PMID:19349582, PMID:30845169

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone
• Cilia length regulation

Function

Essential for assembling the distal half of the centriole and the elongation of the centrioles. Mutations of POC5 alter its subcellular localization and induce ciliary retraction (19349582), in addition, impair cell cycle, cilia length and centrosome protein interactions (30845169 ).