PCM1

pericentriolar material 1

Ensembl:
ENSG00000078674
UniProt:
Q15154
OMIM:
600299
Synonyms:
PTC4

Cilia effects upon perturbation of PCM1

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

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.08) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.43, ciliated=19.0%) PMID:26595381

Phenotypes

Mouse phenotype:
abnormal skin morphology, abnormal coat/hair pigmentation, impaired glucose tolerance, developmental dysplasia, decreased body length, hypospermia, decreased prepulse inhibition, small spleen, increased startle reflex, decreased spleen weight, decreased lean body mass, germ cell defect, spermatogenesis defect, prolonged rr interval
Mouse ciliopathy phenotype:
hydrocephalus, abnormal cranium morphology, hydrocephaly, prolonged qrs complex duration, male infertility

Subcellular localization

basal body, centrosome, cilia, cytosol, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Neurogenesis & migration
  • Protein processing & maturation
  • Transition zone

Function

Centriolar satellite protein/component that serves as a scaffold to target proteins to centrosome during centrosome maturation. When phosphorylated, it recruits Plk1 to the pericentriolar matrix before mitotic entry (23345402). Involved in the formation of primary cilia by associating with CEP290 and BBSome during the ciliogenesis: required for ciliary localisation of Rab8. Role in the recruitment of major centrosomal proteins required for the formation of the non-motile primary cilium (18772192, 31023719). Depletion reduces ciliogenesis (21985783). Its localisation is dependent on BBS4, mislocalisation leads to deanchoring of centrosomal (15107855). Required for focal ciliary integrity (33214552)

Model organism evidence

Mus musculus (1 reference)

The absence of the CC domains 5-7 in mutant spermatids destabilizes PCM1, which fails to recruit satellite components such as Bardet-Biedl syndrome 4 (BBS4) and centrosomal protein of 131 kDa (CEP131) to satellites, resulting in defective sperm flagellum biogenesis, as BBS4 and CEP131 are essenti

PMIDs: 40801568

Drosophila (1 reference)

Given that PCM1 depletion does not affect overall protein levels, we propose that satellites instead promote the coordinate synthesis of centrosomal and ciliary proteins, thereby facilitating the formation of protein complexes.

PMIDs: 40396915