PPP1R35

Cilia effects upon perturbation of PPP1R35

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.69) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

embryonic growth retardation, preweaning lethality, complete penetrance, embryonic lethality prior to tooth bud stage, abnormal forebrain development, abnormal embryo size, decreased circulating chloride level, abnormal tail bud morphology, decreased circulating glucose level

Subcellular localization

basal body

References: PMID:30168418, PMID:32628936

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

PPP1R35, the product of the gene C7orf47, is a centrosomal component located in the proximal centriolar lumen above the cartwheel. PPP1R35 is not important for early centriole assembly but is critical for centriole elongation by impacting the recruitment of the microtubule-binding elongation machinery(30168418).