TAOK1

Cilia effects upon perturbation of TAOK1

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:

abnormal skin morphology, preweaning lethality, complete penetrance, increased monocyte cell number

Mouse ciliopathy phenotype:

abnormal reti blood vessel morphology, abnormal lens morphology, abnormal reti vasculature morphology, cataract

Human ciliopathy phenotype:

ASD and CHD risk gene; impairs primary cilia formation.

Ciliopathy associations

• Autism Spectrum Disorder

Subcellular localization

cilia, cytosol, microtubules

Functional category

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

Function

TAOK1 localized at cilia