OCRL

OCRL inositol polyphosphate-5-phosphatase

Ensembl:
ENSG00000122126
UniProt:
Q01968
OMIM:
300535
Synonyms:
DENT-2, OCRL1

Cilia effects upon perturbation of OCRL

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

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.94) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.00) PMID:41160700

Phenotypes

Human ciliopathy phenotype:
oculocerebrorenal syndrome

Ciliopathy associations

  • Lowe Oculocerebrorenal Syndrome

Subcellular localization

basal body, cytosol, endosome, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cilia length regulation

Function

Interacts with GTPases and is involved in intracellular trafficking and cilia mainte nce, mutation are associated with Lowe syndrome (22543976). Required for cilia assembly by contributing to Rab8/IPIP27 dependent protein trafficking to the primary cilia (22228094) and modulation of cilia length (22680056). Required for primary cilia to respond to pressure stimulation through its interaction with vanilloid 4 (25143588).

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