OCRL

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

References: PMID:9430698, PMID:28871046, PMID:9199559, PMID:30590522, PMID:21183592, PMID:39553960, PMID:27625797, PMID:16443634

Subcellular localization

basal body, cytosol, endosome, nucleus, cilia

References: PMID:41005307, PMID:22543976, PMID:22228094, PMID:25143588

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 maintenance, 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).