CFAP54

cilia and flagella associated protein 54

Tier: Gold Standard Ciliary Genes

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

Ciliogenesis screen results (1 screens)

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

Ciliopathy associations

Primary Ciliary Dyskinesia

References: PMID:26224312, PMID:39362668

Subcellular localization

cilia, basal body

References: PMID:41410385, PMID:41005307, PMID:26224312

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
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)

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