POC1B

POC1 centriolar protein B

Ensembl:
ENSG00000139323
UniProt:
Q8TC44
OMIM:
614784
Synonyms:
FLJ14923, TUWD12, WDR51B

Cilia effects upon perturbation of POC1B

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

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse ciliopathy phenotype:
abnormal pancreas morphology

Ciliopathy associations

  • Cone-Rod Dystrophy

Subcellular localization

basal body, centrosome

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • Reproduction & sperm
  • Cell migration & adhesion

Function

Stable component of centrioles that and plays a role in their formation and mainte nce, required for ciliogenesis (26336158, 23015594, 25044745). Disease gene for recessive reti l degeneration and severe syndromic ciliopathy (25018096).

Model organism evidence

Mus musculus (2 references)

The distal centriole nucleates the flagellum.

Additionally, testicular histology and transmission electron microscopy analysis of the testes and sperm indicated that Poc1b mutation results in abnormal formation of acrosomes and flagella.

PMIDs: 38351906, 37070736