CFAP53

cilia and flagella associated protein 53

Ensembl:
ENSG00000172361
UniProt:
Q96M91
OMIM:
614759
Synonyms:
CCDC11, FLJ32743

Cilia effects upon perturbation of CFAP53

Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (1 screen)

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

Phenotypes

Mouse phenotype:
preweaning lethality, incomplete penetrance, increased grip strength
Human ciliopathy phenotype:
visceral heterotaxy

Ciliopathy associations

  • Visceral Heterotaxy / Situs Inversus

Subcellular localization

basal body

Functional category

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

Function

Also called CCDC11. Assembly and function of primary and motile cilia, providing recruitment sites for proteins destined for the centrosome and cilium. Involved in left-right patterning and maintaining centriolar satellite organization of PCM- 1 and Cep290 at centriolar satellites (26538025).

Model organism evidence

Mus musculus (2 references)

Essential Role of CFAP53 in Sperm Flagellum Biogenesis.

In node cilia, CFAP53 mainly localized at the base (centriolar satellites), whereas it was also present along the entire axoneme in tracheal cilia.

PMIDs: 34124066, 33347437