CFAP45

cilia and flagella associated protein 45

Ensembl:
ENSG00000213085
UniProt:
Q9UL16
OMIM:
605152
Synonyms:
CCDC19, NESG1

Cilia effects upon perturbation of CFAP45

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
heterotaxy, visceral, 9, autosomal, with male infertility

Ciliopathy associations

  • Visceral Heterotaxy / Situs Inversus

Subcellular localization

basal body, nucleus, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • Reproduction & sperm
  • Cell migration & adhesion
  • Transition zone

Function

CFAP45 has localized in basal body, transition zone.

Model organism evidence

Mus musculus (1 reference)

The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice.

PMIDs: 37236356