CEP295

centrosomal protein 295

Ensembl:
ENSG00000166004
UniProt:
Q9C0D2
OMIM:
617728
Synonyms:
KIAA1731

Cilia effects upon perturbation of CEP295

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.44) PMID:29459680

Phenotypes

Mouse phenotype:
abnormal embryo size, preweaning lethality, incomplete penetrance, decreased bone mineral content
Mouse ciliopathy phenotype:
male infertility

Ciliopathy associations

  • Seckel-like Syndrome

Subcellular localization

basal body, centrosome

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation

Function

Depletion of CEP295 resulted in a decrease in the numbers of centrioles and centrosomes and triggered p53-dependent G1 cell cycle arrest, and the loss of CEP295 causes extensive primary ciliary defects in both patient-derived fibroblasts and RPE1 cells(PMID: 38154379).

Model organism evidence

Drosophila (1 reference)

We conclude that Ana1 helps recruit Polo to mother centrioles to specifically promote mitotic centrosome assembly and centriole elongation in G2, but not centriole duplication, centriole disengagement or cilia assembly.

PMIDs: 34156068