ADCY3

Cilia effects upon perturbation of ADCY3

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (3 screens)

• 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:

increased total body fat amount, increased hemoglobin content, decreased lean body mass, increased hematocrit, preweaning lethality, incomplete penetrance

Human ciliopathy phenotype:

obesity; Obesity

Ciliopathy associations

• Ciliary Monogenic Obesity

Subcellular localization

basal body, cilia, transition zone

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Metabolism
• T cell biology
• Reproduction & sperm
• Viral interactions
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Transition zone

Function

Localized to the plasma membrane of neuronal cilia (17924533, 23392690). First we show here that ACIII is a component of the primary cilia of untreated and lithium-treated FLS synoviocytes (Fig. 6). Next we treated FLS cells for 60 hrs with two ACIII P-site inhibitors: first, we titrated adenosine 3′ monophosphate (3′-AMP) and found that at 5 mM this inhibitor resulted in elongation of primary cilia, on average, to 7.95 μm (n = 33) from 4.28 μm for untreated cells (n = 23) (p<0.05) (Fig. 7A). (19576885)

Model organism evidence