CUL7

Cilia effects upon perturbation of CUL7

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

No effect

Overexpression effect:

no effect

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

preweaning lethality, complete penetrance, increased circulating hdl cholesterol level

Subcellular localization

centrosome, cilia associated gene, cytosol, nucleus

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Neurogenesis & migration

Function

Mutated in M3 syndrome. Fibroblast with CUL7 homozygous mutations showed significantly fewer cilia than wild-type. Nevertheless, cilia could be restored by overexpression of wild type CUL7, suggesting that 3M syndrome is indeed a ciliopathy ( 27173435).