PCM1

Cilia effects upon perturbation of PCM1

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Increased

Ciliogenesis screen results (4 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.08) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.43, ciliated=19.0%) PMID:26595381

Phenotypes

Mouse phenotype:

abnormal skin morphology, abnormal coat/hair pigmentation, impaired glucose tolerance, developmental dysplasia, decreased body length, hypospermia, decreased prepulse inhibition, small spleen, increased startle reflex, decreased spleen weight, decreased lean body mass, germ cell defect, spermatogenesis defect, prolonged rr interval

Subcellular localization

basal body, centrosome, cilia, cytosol, nucleus

References: PMID:41410385, PMID:41005307, PMID:23345402, PMID:18772192, PMID:31023719, PMID:21985783, PMID:15107855, PMID:33214552

Functional category

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

Function

Centriolar satellite protein/component that serves as a scaffold to target proteins to centrosome during centrosome maturation. When phosphorylated, it recruits Plk1 to the pericentriolar matrix before mitotic entry (23345402). Involved in the formation of primary cilia by associating with CEP290 and BBSome during the ciliogenesis: required for ciliary localisation of Rab8. Role in the recruitment of major centrosomal proteins required for the formation of the non-motile primary cilium (18772192, 31023719). Depletion reduces ciliogenesis (21985783). Its localisation is dependent on BBS4, mislocalisation leads to deanchoring of centrosomal (15107855). Required for focal ciliary integrity (33214552)