ATP6AP2

Cilia effects upon perturbation of ATP6AP2

Cilia number / % ciliated:

Incrased cilia number

Loss-of-function effect:

No effect

Ciliogenesis screen results (4 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.15) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

syndromic X-linked intellectual disability Hedera type; X-linked intellectual disability, Hedera type; X-linked intellectual disability - epilepsy

Subcellular localization

cilia associated gene

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Metabolism
• Protein processing & maturation

Function

Ciliary length was not influenced in ATP6AP2-depleted As4.1 cells compared to controls. Ciliary lengths amounted to 2.84 ± 0.94 μm in scramble controls (n = 37) and 2.81 ± 1.03 μm in ATP6AP2-depleted As4.1 cells (n = 45) (data not shown). Furthermore, we did not observe cells with more than one primary cilium or with a cilium with altered length. Therefore, we exclude dysregulated ciliogenesis. n this study, ATP6AP2 knock-down was associated with the doubling of the percentage of ciliated cells (Fig. 4A). Specifically, the percentage of ciliated cells related to the total number of cell nuclei increased significantly from 16.2 ± 1.8% and 16.4 ± 3.2% in untreated and scramble controls, respectively, to 31.8 ± 4.0% in ATP6AP2-depleted As4.1 cells. Considering that the cell density on the slide may influence the number of ciliated cells due to a contact-induced cell cycle arrest within the G1 phase, we correlated the percentage of ciliated cells with the number of nuclei per field of vision (Fig. 4B). Our data demonstrate that the cell density of scramble controls and ATP6AP2-depleted cells on the slides was low enough to avoid contact-induced cell cycle arrest(28215051).