CENPF

centromere protein F

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000117724
UniProt:
P49454
OMIM:
600236
Synonyms:
HCP-1

Cilia effects upon perturbation of CENPF

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
No effect

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

Ciliopathy associations

  • Stromme Syndrome

References: PMID:26820108, PMID:27300082, PMID:35001526, PMID:35488810, PMID:28407396, PMID:31953238, PMID:38002928

Subcellular localization

basal body, cilia, cytosol, nucleus

References: PMID:25564561, PMID:26820108, PMID:31488893, PMID:31953238

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Cardiac & muscle development
  • Transcription regulation

Function

Centriolar disease gene implicated in severe human ciliopathy and MCPH-related phenotypes (25564561, 26820108, 31488893, 31953238).