TAOK1
TAO kinase 1
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000160551
- UniProt:
- Q7L7X3
- OMIM:
- 610266
- Synonyms:
- FLJ14314, HKFC-B, HTAOK1, KIAA1361, MAP3K16, MARKK, PSK2, TAO1
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
- Human ciliopathy phenotype:
- ASD and CHD risk gene; impairs primary cilia formation.
Ciliopathy associations
- Autism Spectrum Disorder
References: PMID:40552535
Subcellular localization
cilia, cytosol, microtubules
References: PMID:41005307, PMID:39131273
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Actin & cytoskeleton regulation
Function
TAOK1 localized at cilia