CEP97

Cilia effects upon perturbation of CEP97

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.88) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-0.98) PMID:29459680

Phenotypes

Mouse phenotype:

hemorrhage, edema, abnormal craniofacial morphology, cleft palate, spi bifida, bleb, preweaning lethality, complete penetrance

Subcellular localization

basal body, centrosome

References: PMID:41005307, PMID:17719545, PMID:30375385, PMID:30404837

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation

Function

Recruitment and stabilisation of CP110 to centrosomes. Both CP110 and CEP97 complexes regulate basal body function, centrosome functions and inhibit cilia assembly (17719545). Loss of CEP97 causes premature cilia formation or abnormal centriole elongation (30375385). CEP97 ubiquitylation and degradation play a key role in the removal of the CEP97–CP110 complex from the mother centriole for initiating ciliary axoneme extension (30404837).