RAC1

Cilia effects upon perturbation of RAC1

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]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

decreased mean corpuscular hemoglobin, abnormal eye morphology, hyperplasia, enlarged lymph nodes, abnormal spleen morphology, abnormal lymph node morphology, embryonic lethality prior to organogenesis, enlarged spleen, preweaning lethality, complete penetrance, anophthalmia, hyperactivity, increased erythrocyte cell number, increased circulating alkaline phosphatase level

Mouse ciliopathy phenotype:

small kidney, microphthalmia, abnormal testis morphology, small testis

Human ciliopathy phenotype:

intellectual disability, autosomal dominant 48

Subcellular localization

basal body, cytosol, endosome, microtubules

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• T cell biology
• Neurogenesis & migration
• Viral interactions
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Axon guidance & growth

Function

In both wild type and Arhgap35D34/D34 proximal tubules Rac1 and RhoA are enriched at the basal bodies to similar degrees. p190A plays a role at the docked basal body to downregulate active RhoA (and possibly Rac1) to allow the localized actin cytoskeleton rearrangement required for cilia elongation (26859289).