CFAP58
cilia and flagella associated protein 58
- 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 screen)
- Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
Ciliopathy associations
- Male Infertility
Subcellular localization
flagella
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- T cell biology
- 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 sig ling pathway. (31904090)
Model organism evidence
Mus musculus (2 references)
Further analysis demonstrated that the CFAP58 mutation disrupts CP assembly during spermiogenesis, leading to disorganization of axonemal proteins in both human and mouse sperm flagella.
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.