CEP128

Cilia effects upon perturbation of CEP128

Loss-of-function effect:

Longer cilia

Overexpression effect:

Shorter cilia

Ciliogenesis screen results (4 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Failler/Valderrama et al. 2021 (siRNA) [siRNA]: Negative Regulator (Ciliogenesis Candidate) PMID:33206585
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.06) PMID:41160700

Phenotypes

Mouse phenotype:

decreased prepulse inhibition, improved glucose tolerance, no spontaneous movement, decreased locomotor activity, decreased startle reflex, decreased total body fat amount, decreased grip strength

Mouse ciliopathy phenotype:

abnormal auditory brainstem response

Subcellular localization

basal body, centrosome

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• T cell biology
• Reproduction & sperm
• Cell migration & adhesion

Function

It encodes a subdistal appendage protein that regulates TGF-尾/bone morphogenetic protein (BMP) sig ling and RAB11 trafficking at the primary cilium. It has no major effect on centrosome structure but leads to increased ciliation frequency (29514088).