ADCY6

Cilia effects upon perturbation of ADCY6

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (4 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.31) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, casTLE effect=1.46) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.92, ciliated=60.0%) PMID:26595381

Phenotypes

Mouse phenotype:

increased circulating alkaline phosphatase level, increased blood urea nitrogen level

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Metabolism
• Viral interactions
• Signaling (Hedgehog, GPCRs, ion channels)

Function

AC5 and AC6 concentrate in the primary cilium, and mutation of a previously undescribed cilium-targeting motif in AC5 suppresses its ciliary location, as well as its capacity to inhibit Hh sig lling. Mutated in lethal contracture syndrome.