POC5

POC5 centriolar protein

Ensembl:
ENSG00000152359
UniProt:
Q8NA72
OMIM:
617880
Synonyms:
C5ORF37, FLJ35779, HPOC5, MGC120442, MGC120443

Cilia effects upon perturbation of POC5

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

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=3.04) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
abnormal ovary morphology, decreased exploration in new environment, decreased prepulse inhibition, preweaning lethality, incomplete penetrance
Mouse ciliopathy phenotype:
small testis
Human ciliopathy phenotype:
retinal dystrophy; adolescent idiopathic scoliosis (spine)

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

Subcellular localization

basal body, centrosome

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transition zone
  • Cilia length regulation

Function

Essential for assembling the distal half of the centriole and the elongation of the centrioles. Mutations of POC5 alter its subcellular localization and induce ciliary retraction (19349582), in addition, impair cell cycle, cilia length and centrosome protein interactions (30845169 ).

Model organism evidence

Mus musculus (2 references)

Centrin-POC5 inner scaffold provides distal centriole integrity for sperm flagellar assembly.

The connecting cilium inner scaffold provides a structural foundation that protects against retinal degeneration.

PMIDs: 41337589, 35709082