INTU

Cilia effects upon perturbation of INTU

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

No effect

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680

Phenotypes

Human ciliopathy phenotype:

short rib dysplasia

Ciliopathy associations

• Orofaciodigital Syndrome
• Short-Rib Thoracic Dysplasia

Subcellular localization

basal body, cilia

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

Governs apical actin assembly and thus controls the orientation, but not assembly, of ciliary (16493421, 27158779). Cilia and pla r polarity effector, essential for IFT-A complex assembly during ciliogenesis, forming a molecular module with Fuzzy (FUZ) and WDPCP. INTU functions upstream of Gli2 activation and is required for Smo-mediated Hh pathway activation (28459465). Targeting Intu … resulted in almost complete loss of primary cilia in epidermal and follicular keratinocytes. (22935613) Knockdown of Intu led to the shortening of primary cilia … overexpression of Intu could preserve cilia. (29581513) INTU acts in the CPLANE complex to facilitate ciliogenesis and support cilia signaling. (40968537) INTU performs prominent ciliogenic functions during morphogenesis.(28459465)