CFAP53

Cilia effects upon perturbation of CFAP53

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (1 screens)

• 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

References: PMID:39969775, PMID:26531781, PMID:25504577

Subcellular localization

basal body

References: PMID:41410385, PMID:42010243, PMID:41005307, PMID:26538025

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• 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). Here, we identify FAP53 as a factor that facilitates B-tubule assembly in a scaffold-dependent manner. In vitro reconstitution demonstrated that recombinant FAP53 enhances MTD formation in the presence of preassembled microtubule scaffolds, but is insufficient to drive de novo assembly from free tubulin alone. In cultured HeLa cells, coexpression of CFAP53 and CFAP20-an inner junction protein-induced ectopic MTD-like structures in the cytoplasm. Furthermore, we identified a structurally homologous protein in Caenorhabditis elegans, WFAP-53, which localized to sensory cilia. Loss of wfap-53 does not abolish MTD formation in vivo, but its overexpression triggered ectopic MTD formation in neuronal dendrites and concomitantly led to sensory cilia disassembly. Molecular dynamics simulations suggested that FAP53 could stabilize B-tubule docking at the A-tubule surface. These findings uncover a conserved mechanism of B-tubule initiation and underscore the necessity for spatially restricted expression of MTD assembly factors during ciliogenesis(PMID: 42743277).