SMO

Ciliogenesis screen results (6 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.73) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-6.3) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.44, ciliated=18.9%) PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=28, lfc=-5.42) PMID:30270045
• Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-2.66) PMID:20393562

Phenotypes

Mouse phenotype:

abnormal pericardium morphology, abnormal skin morphology, preweaning lethality, complete penetrance, decreased heart rate, embryonic lethality prior to tooth bud stage, abnormal embryo development, prolonged rr interval, increased heart rate variability

Ciliopathy associations

• Ellis-van Creveld Syndrome
• Holoprosencephaly
• Pallister-Hall Syndrome

References: PMID:35927022, PMID:35034092, PMID:10527664, PMID:38766979, PMID:26075268

Subcellular localization

basal body, cilia

References: Human Protein Atlas, PMID:28344083, PMID:16136078, PMID:16229832, PMID:32435793

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Neurogenesis & migration
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Cardiac & muscle development
• Axon guidance & growth

Function

Translocates to the primary cilium membrane and activates downstream signaling. It is enriched in cilia upon stimulation with Shh (17641202). Smo traslocation to the cilium results in Glis activation (28344083). Hh signalling depends upon a Smo ciliary localization (16136078). Defect in Smo localisation results from defective retrograde transport (16229832). For instance, defects in intraflagellar transport components Ift27 and the BBSome, cause ciliary accumulation of Smo without pathway activation (32435793).