CDKL5

Cilia effects upon perturbation of CDKL5

Loss-of-function effect:

Longer cilia

Overexpression effect:

Shorter cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.94) 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:

decreased respiratory quotient

Human ciliopathy phenotype:

CDKL5 Deficiency Disorder (CDD): epileptic encephalopathy affecting young children.

Ciliopathy associations

• Intellectual Developmental Disorder with Epilepsy

References: PMID:39136782

Subcellular localization

basal body, cilia, nucleus

References: PMID:29420175

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Neurogenesis & migration

Function

Regulate cilium length, has a potential role in ciliogenesis, facilitates dendritic spine and excitatory synapse formation (29420175). C. elegans CDKL-1, most closely related to CDKL1.CDKL-1/CDKL5 show dosage-sensitive control of cilium length — too little = long cilia, too much = short or defective ciliogenesis. Overexpression of CDKL5 specifically reduces the percentage of ciliated cells, indicating an effect on ciliogenesis initiation, not just length (PMID: 29420175).