CAV1

Cilia effects upon perturbation of CAV1

Cilia number / % ciliated:

No effect

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-12.15) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Failler/Valderrama et al. 2021 (siRNA) [siRNA]: Negative Regulator (Ciliogenesis Candidate) PMID:33206585

Phenotypes

Mouse phenotype:

decreased grip strength, increased circulating cholesterol level, increased hemoglobin content, increased mean corpuscular volume, increased mean corpuscular hemoglobin, decreased cardiac muscle contractility, increased circulating hdl cholesterol level, increased heart rate

Subcellular localization

endosome, microtubules, transition zone

References: PMID:30718762, PMID:28134340

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Viral interactions
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Cardiac & muscle development
• Muscle contraction & physiology
• Transition zone
• Transcription regulation

Function

CAV1 regulates primary cilium length by modulating apical actin cytoskeleton, its silencing results in an increased size of cilia. isoform is necessary for normal ciliary length, through mechanisms involving GTPase RhoA, ROCK and DIA1 (PMID 30718762). CAV1 membrane microdomains establishment by KIF13B and NPHP4, is essential for Sonic hedgehog induced ciliary accumulation of Smoothened (SMO) (PMID 28134340).