CCDC78

coiled-coil domain containing 78

Ensembl:
ENSG00000162004
UniProt:
A2IDD5
OMIM:
614666
Synonyms:
C16ORF25, FLJ34512

Cilia effects upon perturbation of CCDC78

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

Ciliogenesis screen results (1 screen)

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

Phenotypes

Mouse ciliopathy phenotype:
decreased circulating calcium level

Subcellular localization

basal body, centrosome

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cardiac & muscle development
  • Muscle contraction & physiology

Function

Centriole amplification mediated by deuterosome in multi-ciliated cells. Recruitment of Cep152 to the deuterosome required for centriole biogenesis (PMID: 24075808). Ccdc78 KD severely reduced the length of MCC cilia (40027778 ,24075808). CCDC78 occupies the extreme distal tip of vertebrate MCC cilia; required for normal organization of all other tip proteins. Loss elicits distinct pattern of defective cilia beating and resultant fluid flow. Required for normal length regulation.

Model organism evidence

Mus musculus (1 reference)

A protein complex in the extreme distal tip of vertebrate motile cilia controls their organization, length, and function.

PMIDs: 40027778

Xenopus (1 reference)

A role for Cep70 in centriole amplification in multiciliated cells.

PMIDs: 33285087