CFAP58

cilia and flagella associated protein 58

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000120051
UniProt:: Q5T655
OMIM:: 619129
Synonyms:: BA554P13.1, C10ORF80, CCDC147, FLJ35908

Cilia effects upon perturbation of CFAP58

Cilia number / % ciliated:: Decreased cilia number
Loss-of-function effect:: Shorter cilia
Overexpression effect:: No effect

Ciliogenesis screen results (1 screens)

Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680

Ciliopathy associations

Male Infertility

References: PMID:32791033

Subcellular localization

flagella

References: Human Protein Atlas, PMID:32791035, PMID:31904090

Functional category

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

Function

Bi-allelic Loss-of-function variants cause flagellar axoneme and mitochondrial sheath defects and asthenoteratozoospermia in humans and mice (32791035). Exhibits similar localization to Odf2/Cenexin proteins and is required for the elongation of the primary cilium and sperm midpiece via modulation of the Notch signaling pathway. (31904090)

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