CEP120

Cilia effects upon perturbation of CEP120

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-10.58) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.51) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=107, lfc=-3.91) PMID:30270045

Phenotypes

Human ciliopathy phenotype:

Joubert syndrome; short-rib thoracic dysplasia 13 with or without polydactyly; Joubert syndrome 31

Ciliopathy associations

• Hydrolethalus Syndrome
• Joubert Syndrome
• Short-Rib Thoracic Dysplasia

References: PMID:27208211, PMID:25361962, PMID:25361962

Subcellular localization

basal body, centrosome

References: PMID:30988386, PMID:29847808

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Protein processing & maturation

Function

Is essential for the recruitment of C2CD3 and Talpid3 to the scent centrioles, and is responsible for promoting the assembly of the centriole appendages that are needed for subsequent ciliogenesis. It is a daughter centriole- enriched protein that plays an essential role in centriole elongation (30988386). Plays a key role in the duplication and maturation of centrioles, which in principle could impact the production of a functional basal body (29847808).