SHH

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• 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 circulating hdl cholesterol level, decreased bone mineral content, increased startle reflex, limb grasping, decreased lean body mass, preweaning lethality, complete penetrance, increased total body fat amount, impaired glucose tolerance

Human ciliopathy phenotype:

microphthalmia, isolated, with coloboma 5; polydactyly of a triphalangeal thumb

Ciliopathy associations

• Holoprosencephaly
• Medulloblastoma
• Nephronophthisis

References: PMID:8896572, PMID:11479728, PMID:11941477, PMID:30445565, PMID:10923031, PMID:10527664, PMID:17001700, PMID:34576017, PMID:11785508, PMID:31574483, PMID:30516696, PMID:29692919, PMID:32477916, PMID:36786675, PMID:36273330, PMID:28640708, PMID:32643099, PMID:26027634, PMID:36520034, PMID:39160595, PMID:29727300, PMID:21110233, PMID:37930417

Subcellular localization

nucleus

References: PMID:17641202, PMID:31825820

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Neurogenesis & migration
• Protein processing & maturation
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Cardiac & muscle development
• Axon guidance & growth

Function

Binds to Ptc1 and inactivates it, leading to accumulation of Smo and activation of signaling. Primary cilia regulates its activity ( 17641202). Shh controls patterning and proliferation through the primary cilium ( 31825820).