INPP5B

inositol polyphosphate-5-phosphatase B

Ensembl:
ENSG00000204084
UniProt:
P32019
OMIM:
147264

Cilia effects upon perturbation of INPP5B

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

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.78) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

  • Lowe Oculocerebrorenal Syndrome

Subcellular localization

basal body, cilia, cytosol

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • Reproduction & sperm
  • Protein processing & maturation
  • Cell migration & adhesion
  • Cilia length regulation

Function

Compensatory role in cilia development and regulation. Regulation of ciliary length (23805271). INPP5B localizes to primary cilia, silencing causes defects in cilia formation. INPP5B knockdown reduces ciliated cell percentage (24h & 48h) and shortens cilia lengths (e.g. ~5.1 vs ~2.8 µm at 48h). In zebrafish, inpp5b morphants show shorter cilia in Kupffer’s vesicle, and the phenotype is rescued by wildtype mRNA. (36547473, 23805271)

Model organism evidence

Danio rerio (1 reference)

OCRL-deficient zebrafish have neurodevelopmental defects, which may lie downstream of disrupted endosomal trafficking or primary cilia function.

PMIDs: 40778266

Mus musculus (1 reference)

Inactivation of cilia-related sonic hedgehog signaling, which organizes the pattern of cellular neuronal differentiation, is observed in an OCRL knockout, iN cells differentiated from Lowe patient-derived iPSCs, and an LS mouse model.

PMIDs: 39553960