CCDC66

Cilia effects upon perturbation of CCDC66

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

decreased mean corpuscular hemoglobin concentration, increased hematocrit

Ciliopathy associations

• Joubert Syndrome

Subcellular localization

basal body, cilia

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)

Function

Organisation of spindle pole and centriolar satellite. It is involved in cilium formation, satellite organization, BBS4 recruitment to the primary cilium and ciliary trafficking. Overexpression induces formation of microtubule bundles, disruption of centriolar satellite organization and inhibits ciliogenesis (28235840, 31582766). Interacts with ARMC9 and TOGORAM1 (32453716). When mutated in dogs causes late onset retinal degeneration (33273526) The fraction of ciliated cells was reduced upon CCDC66 depletion at all time points after serum starvation and did not reach control levels even at 48 h post serum starvation.Cilia that formed in CCDC66-depleted cells were significantly shorter relative to those in control cells at all time points following serum starvation (PMID: 36606424).

Model organism evidence