PPEF1

protein phosphatase with EF-hand domain 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000086717
UniProt:
O14829
OMIM:
300109
Synonyms:
PPEF, PPP7CA

Cilia effects upon perturbation of PPEF1

Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Subcellular localization

cilia, cytosol

References: PMID:39550471

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation

Function

In C. elegans, the PEF-1 protein (ortholog of human PPEF1/PPEF2) localizes inside cilia, and pef-1 mutants show structural cilia defects (microtubule degeneration) and functional cilia defects (impaired chemosensation, thermosensation, light, and CO₂ response) (PMID: 39550471).