PPP1R35
protein phosphatase 1 regulatory subunit 35
- Ensembl:
- ENSG00000160813
- UniProt:
- Q8TAP8
- OMIM:
- 618937
- Synonyms:
- C7ORF47, MGC22793
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
- Mouse ciliopathy phenotype:
- abnormal embryo turning, abnormal heart morphology, abnormal lens morphology, abnormal midbrain development
Subcellular localization
basal body
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).
Model organism evidence
Mus musculus (1 reference)
Consistent with recent in vitro studies linking PPP1R35 with the microcephaly protein Rotatin and with a role in centrosome formation, we show that Ppp1r35 mutant embryos lack primary cilia.
PMIDs: 32628936
Drosophila (1 reference)
Tissue specific requirement of Drosophila Rcd4 for centriole duplication and ciliogenesis.
PMIDs: 32543652