PCNT

Cilia effects upon perturbation of PCNT

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Increased

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.46) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-2.61) PMID:20393562

Phenotypes

Mouse phenotype:

preweaning lethality, complete penetrance, embryonic growth retardation, abnormal skin morphology, abnormal eye morphology, decreased body length, anophthalmia

Human ciliopathy phenotype:

biliary atresia

Ciliopathy associations

• Biliary Atresia

References: PMID:34455394

Subcellular localization

basal body, centrosome, cilia, cytosol, flagella

References: PMID:22031837, PMID:15337773, PMID:30054381

Functional category

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

Function

Mediates microtubule organization (nucleation and anchoring) (22031837). Form a complex with intraflagellar transport proteins and polycystin-2, required for primary cilia assembly and motile cilia. Recruits protein complexes involved in cilia assembly and calcium signaling to centriole (15337773). Interacts with SYNE-2 to form a complex important for ciliogenesis and outer segment formation during retinal development (30054381)