CFAP54

cilia and flagella associated protein 54

Ensembl:: ENSG00000188596
UniProt:: Q96N23
Synonyms:: C12ORF55, C12ORF63, FLJ31514, FLJ44112

Cilia effects upon perturbation of CFAP54

Ciliogenesis screen results (1 screen)

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

Ciliopathy associations

Primary Ciliary Dyskinesia

Subcellular localization

cilia

Functional category

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

Function

Member of C1d complex. CFAP54 is required C1d assembly mechanisms, therefor, it is necessary for proper assembly and motility of mammalian cilia and flagella. Role in spermatogenesis (26224312)

Model organism evidence

Mus musculus (5 references)

Airway ciliary microenvironment responses in mice with primary ciliary dyskinesia and central pair apparatus defects.

Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.

PMIDs: 39558053, 37725231, 32704025, 30190587, 26224312

Note: Additional interactive sections (perturbation matrix visualization, phylogenetic conservation strip, protein complex network, STRING interactions) require JavaScript. Browse CiliaHub for the full experience.