CCDC181

coiled-coil domain containing 181

Ensembl:
ENSG00000117477
UniProt:
Q5TID7
OMIM:
620891
Synonyms:
C1ORF114, FLJ25846

Cilia effects upon perturbation of CCDC181

Cilia number / % ciliated:
Severe reduction/essentially none
Loss-of-function effect:
Shorter cilia or No Flagella

Ciliogenesis screen results (1 screen)

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

Phenotypes

Mouse phenotype:
decreased total reti thickness, abnormal reti outer nuclear layer morphology

Subcellular localization

cilia, nucleus

Functional category

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

Function

CCDC181 is a structural component of the axonemal structure of sperm flagella as well as motile cilia. It might be a component of the apparatus necessary for the generation of ciliary motility. C-terminal region interacts with of the axoneme and Hook1, acting as a linker protein for phosphoprotein phosphatase 1 (PP1) to tack the phosphatase to the axonemal structure of cilia and flagella. Pronostic factor for prostate cancer. Ccdc181−/− mice displayed malformed flagella, including coiled, short, bent, absent, and irregular forms (PMID: 39245650)

Model organism evidence

Mus musculus (3 references)

CCDC181 is required for sperm flagellum biogenesis and male fertility in mice.

Finally, CCDC181 is identified as a interacting protein for CCTβ protein, and its localization to photoreceptor connecting cilia is compromised in the mutant mouse.

PMIDs: 39245650, 38830954, 28283191