SHH
sonic hedgehog signaling molecule
- Ensembl:
- ENSG00000164690
- UniProt:
- Q15465
- OMIM:
- 600725
- Synonyms:
- HHG1, HLP3, HPE3, MCOPCB5, SMMCI
Cilia effects upon perturbation of 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
Subcellular localization
cilia associated gene, nucleus
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- T cell biology
- Neurogenesis & migration
- Protein processing & maturation
- Cell migration & adhesion
- Signaling (Hedgehog, GPCRs, ion channels)
- Cardiac & muscle development
- Axon guidance & growth
Function
Binds to Ptc1 and i ctivates it, leading to accumulation of Smo and activation of sig ling. Primary cilia regulates its activity ( 17641202). Shh controls patterning and proliferation through the primary cilium ( 31825820).