CEP120

centrosomal protein 120

Ensembl:
ENSG00000168944
UniProt:
Q8N960
OMIM:
613446
Synonyms:
CCDC100, FLJ36090

Cilia effects upon perturbation of CEP120

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

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-10.58) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.51) PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=107, lfc=-3.91) PMID:30270045

Phenotypes

Human ciliopathy phenotype:
Joubert syndrome; short-rib thoracic dysplasia 13 with or without polydactyly; Joubert syndrome 31

Ciliopathy associations

  • Hydrolethalus Syndrome
  • Joubert Syndrome
  • Short-Rib Thoracic Dysplasia

Subcellular localization

basal body, centrosome

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Protein processing & maturation

Function

Is essential for the recruitment of C2CD3 and Talpid3 to the scent centrioles, and is responsible for promoting the assembly of the centriole appendages that are needed for subsequent ciliogenesis. It is a daughter centriole- enriched protein that plays an essential role in centriole elongation (30988386). Plays a key role in the duplication and maturation of centrioles, which in principle could impact the production of a functio l basal body (29847808).

Model organism evidence

Mus musculus (6 references)

Hydrolethalus syndrome (HLS) is a lethal, autosomal recessive ciliopathy caused by the mutation of the conserved centriole protein HYLS1.

Hydrolethalus Syndrome (HLS) is a lethal, autosomal recessive ciliopathy caused by the mutation of the conserved centriole protein HYLS1.

PMIDs: 40009365, 38496445, 38177914, 37982452, 37066373