ARHGAP29

Cilia effects upon perturbation of ARHGAP29

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.36) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

preweaning lethality, complete penetrance, embryonic lethality prior to tooth bud stage

Mouse ciliopathy phenotype:

increased circulating alanine transamise level, increased circulating aspartate transamise level, abnormal auditory brainstem response

Subcellular localization

basal body, cytosol

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Cilia length regulation

Function

Using cilia length as a phenotypic readout for centrosomal RhoA activity, ARHGAP5, -29, and -35 are essential regulators of ciliation in normal human re l tubular cells. The centrosome retention of ARHGAP5 and -29 are determined by their interaction with other proteins apart from PC1(32663194).