CEP162

centrosomal protein 162

Ensembl:
ENSG00000135315
UniProt:
Q5TB80
OMIM:
610201
Synonyms:
C6ORF84, KIAA1009, QN1

Cilia effects upon perturbation of CEP162

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

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, casTLE effect=1.35) PMID:29459680

Ciliopathy associations

  • Retinal Ciliopathy
  • Retinal Dystrophy/Degeneration
  • Male Infertility

Subcellular localization

basal body, centrosome, cilia, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Transition zone

Function

Promotes and restricts transition zone (TZ) assembly before ciliogenesis. Interacts with core TZ components CEP290 and mediates their association with MTs. Loss of CEP162 arrests ciliogenesis at the stage of TZ assembly, gain of CEP162 at cilia tips promotes ectopic assembly of TZ components (PMID: 23644468).

Model organism evidence

Drosophila (1 reference)

Cep131-Cep162 and Cby-Fam92 complexes cooperatively maintain Cep290 at the basal body and contribute to ciliogenesis initiation.

PMIDs: 38442096