CEP78

centrosomal protein 78

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000148019
UniProt:
Q5JTW2
OMIM:
617110
Synonyms:
C9ORF81, FLJ12643

Cilia effects upon perturbation of CEP78

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Longer cilia

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=382, lfc=-3.09) PMID:30270045

Phenotypes

Mouse phenotype:
abnormal heartbeat
Human ciliopathy phenotype:
cone-rod dystrophy and hearing loss

Ciliopathy associations

  • Cone-Rod Dystrophy

References: PMID:33968938, PMID:36756949, PMID:27588451, PMID:40777246

Subcellular localization

basal body, centrosome, cytosol

References: PMID:27246242, PMID:28242748, PMID:34259627

Functional category

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

Function

Centrosome overduplication by interaction with the N- terminal catalytic domain of Plk4 (27246242). Regulation of centrosome homeostasis by inhibiting the final step of the enzymatic reaction catalyzed by the EDD–DYRK2–DDB1VprBP E3 ligase (28242748).