CCP110

Cilia effects upon perturbation of CCP110

Cilia number / % ciliated:

Decrease

Loss-of-function effect:

Decrease

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:

Ccp110-/- mice: polydactyly, CHD, short ribs, cleft palate, omphalocele, small body. Closely resembles human ciliopathy pattern.

Human ciliopathy phenotype:

Narrow thorax, severe brachydactyly, skeletal ciliopathy (1 patient, biallelic truncating variants)

Ciliopathy associations

• Short-Rib Thoracic Dysplasia

Subcellular localization

basal body, centrosome, cytosol, microtubules

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Protein processing & maturation

Function

Suppressor of ciliogenesis by acting simply as a passive physical barrier and by capping the growing ends of to prevent their elongation. Regulation the assembly of subdistal appendages (SDA) core components. Has a role in regulating centrosome duplication and separation (26965371). Regulates the length of centrioles and prevents aberrant formation of primary cilia, components to a CP110 scaffold may be needed to facilitate depolymerization (21620453). Studies suggest that CP110 might control discrete functions in the centrosome cycle and constitutes a set of controls that govern the switch from centriolar to basal body function (17719545). Biallelic CCP110 truncating variants cause skeletal ciliopathy (narrow thorax, severe brachydactyly) in first human case. Ccp110-/- mice: polydactyly, CHD, short ribs, cleft palate, omphalocele. CCP110 essential for ciliogenesis initiation.

Model organism evidence