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

Mouse ciliopathy phenotype:

persistence of hyaloid vascular system, small testis, microphthalmia, small kidney, cataract, abnormal kidney morphology, abnormal vitreous body morphology, abnormal testis morphology

Subcellular localization

basal body, centrosome, cilia, cytosol, flagella

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 sig ling to centriole (15337773). Interacts with SYNE-2 to form a complex important for ciliogenesis and outer segment formation during reti l development (30054381)

Model organism evidence