Smo smoothened, frizzled class receptor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Smoprovided by MGI
Official Full Name: smoothened, frizzled class receptorprovided by MGI
Primary source: MGI:MGI:108075
See related: Ensembl:ENSMUSG00000001761
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: bnb; Smoh; smoothened; E130215L21Rik
Expression: Broad expression in ovary adult (RPKM 53.2), limb E14.5 (RPKM 37.8) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 A3.3; 6 12.36 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (29735496..29761365)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (29735497..29761366)
Build 37.2	previous assembly	MGSCv37 (GCF_000001635.18)	6	NC_000072.5 (29685497..29711366)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ubiquitin links smoothened to intraflagellar transport to regulate Hedgehog signaling.
Title: Ubiquitin links smoothened to intraflagellar transport to regulate Hedgehog signaling.
SMO-M2 mutation does not support cell-autonomous Hedgehog activity in cerebellar granule cell precursors.
Title: SMO-M2 mutation does not support cell-autonomous Hedgehog activity in cerebellar granule cell precursors.
Smo deletion mediates articular cartilage degeneration by ADAMTS-5 and Runx2 suppression
Title: Attenuation of Post-Traumatic Osteoarthritis After Anterior Cruciate Ligament Injury Via Inhibition of Hedgehog Signaling.
the relieving effect of Smo knockout mice was attenuated when Pth1r knockout was also applied. Our data suggest a chondrocyte protective effect of suppressing Ihh signaling in temporomandibular joint osteoarthritis (OA) cartilage which is dependent on PTH1R signaling
Title: Inhibition of Ihh Reverses Temporomandibular Joint Osteoarthritis via a PTH1R Signaling Dependent Mechanism.
results--combined with signalling studies and molecular dynamics simulations--delineate the structural basis for PTCH1-SMO regulation, and suggest a strategy for overcoming clinical resistance to SMO inhibitors
Title: Smoothened stimulation by membrane sterols drives Hedgehog pathway activity.
Liver-Specific Deletion of Smo Enhances Fas-Induced Liver Injury.
Title: Adult Hepatocytes Are Hedgehog-Responsive Cells in the Setting of Liver Injury: Evidence for Smoothened-Mediated Activation of NF-κB/Epidermal Growth Factor Receptor/Akt in Hepatocytes that Counteract Fas-Induced Apoptosis.
Data show that adaptive alpha-cell identity changes are constrained by intra-islet insulin- and Smoothened-mediated signalling, among others.
Title: Pancreatic islet-autonomous insulin and smoothened-mediated signalling modulate identity changes of glucagon<sup>+</sup> α-cells.
Shh is capable of activating the Hh pathway via Smoothened, independently of Patched1/2.
Title: Gain-of-function Shh mutants activate Smo cell-autonomously independent of Ptch1/2 function.
In vitro evidence of the efficacy of the SMO-inhibitor Sonidegib, supporting further preclinical and clinical evaluation of targeted treatment for refractory SMO-mutant meningiomas.
Title: Selective vulnerability of the primitive meningeal layer to prenatal Smo activation for skull base meningothelial meningioma formation.
Study demonstrates that the non-canonical SMO/Gi/RHOA pathway functions outside primary cilia: Kif3a-deficient fibroblasts, unable to form primary cilia and to activate the canonical Hedgehog pathway, can activate RHOA robustly after stimulation of endogenous SMO with SHH or purmorphamine, and that KIF3A re-expression rescues ciliogenesis but does not affect RHOA activation.
Title: Activation of the Gi protein-RHOA axis by non-canonical Hedgehog signaling is independent of primary cilia.

Submit: New GeneRIF Correction See all GeneRIFs (91)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Chemically induced (ENU) (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237068

Smoh (e-PCR), detects polymorphism
- UniSTS:144443

AU041277 (e-PCR)
- UniSTS:160324

Smo (e-PCR), detects polymorphism
- UniSTS:465497

D6Mit159 (e-PCR), detects polymorphism
- UniSTS:116597

NoName (e-PCR)
- UniSTS:548507

Smo (e-PCR), detects polymorphism
- UniSTS:546036

Homology

Homologs of the Smo gene: The Smo gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 344 organisms have orthologs with human gene Smo
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
patched binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
patched binding	ISO Inferred from Sequence Orthology more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
astrocyte activation	IMP Inferred from Mutant Phenotype more info	PubMed
atrial septum morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
axon extension involved in axon guidance	ISO Inferred from Sequence Orthology more info
cell development	IMP Inferred from Mutant Phenotype more info	PubMed
cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
cellular response to cholesterol	IEP Inferred from Expression Pattern more info	PubMed
central nervous system development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
central nervous system development	IGI Inferred from Genetic Interaction more info	PubMed
central nervous system neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
cerebellar cortex morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
commissural neuron axon guidance	IBA Inferred from Biological aspect of Ancestor more info	PubMed
commissural neuron axon guidance	ISO Inferred from Sequence Orthology more info
contact inhibition	ISO Inferred from Sequence Orthology more info
dentate gyrus development	IMP Inferred from Mutant Phenotype more info	PubMed
determination of left/right asymmetry in lateral mesoderm	IMP Inferred from Mutant Phenotype more info	PubMed
determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
developmental growth	IMP Inferred from Mutant Phenotype more info	PubMed
digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
dorsal/ventral neural tube patterning	IMP Inferred from Mutant Phenotype more info	PubMed
dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
embryonic organ development	IGI Inferred from Genetic Interaction more info	PubMed
epithelial-mesenchymal cell signaling	IMP Inferred from Mutant Phenotype more info	PubMed
forebrain morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
hair follicle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
heart morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
homeostasis of number of cells within a tissue	IDA Inferred from Direct Assay more info	PubMed
in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
left/right axis specification	IMP Inferred from Mutant Phenotype more info	PubMed
mammary gland epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
mesenchymal to epithelial transition involved in metanephric renal vesicle formation	IMP Inferred from Mutant Phenotype more info	PubMed
midgut development	IMP Inferred from Mutant Phenotype more info	PubMed
multicellular organism development	IEA Inferred from Electronic Annotation more info
multicellular organism growth	IGI Inferred from Genetic Interaction more info	PubMed
multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
myoblast migration	IGI Inferred from Genetic Interaction more info	PubMed
negative regulation of DNA binding	IGI Inferred from Genetic Interaction more info	PubMed
negative regulation of DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of hair follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
negative regulation of neuron death	ISO Inferred from Sequence Orthology more info
negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of transcription, DNA-templated	IMP Inferred from Mutant Phenotype more info	PubMed
neural crest cell migration	IGI Inferred from Genetic Interaction more info	PubMed
odontogenesis of dentin-containing tooth	IMP Inferred from Mutant Phenotype more info	PubMed
ossification	IMP Inferred from Mutant Phenotype more info	PubMed
osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
pancreas morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
pattern specification process	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of branching involved in ureteric bud morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
positive regulation of hh target transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of mesenchymal cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of neural precursor cell proliferation	ISO Inferred from Sequence Orthology more info
positive regulation of neuroblast proliferation	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of organ growth	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of protein import into nucleus	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of smoothened signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription, DNA-templated	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of vascular associated smooth muscle cell migration	ISO Inferred from Sequence Orthology more info
protein localization to nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
protein stabilization	IDA Inferred from Direct Assay more info	PubMed
regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
regulation of heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of stem cell population maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
signal transduction	IEA Inferred from Electronic Annotation more info
skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
smoothened signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
smoothened signaling pathway	ISO Inferred from Sequence Orthology more info
smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
smoothened signaling pathway involved in ventral spinal cord patterning	IMP Inferred from Mutant Phenotype more info	PubMed
somite development	IMP Inferred from Mutant Phenotype more info	PubMed
thalamus development	IMP Inferred from Mutant Phenotype more info	PubMed
type B pancreatic cell development	IMP Inferred from Mutant Phenotype more info	PubMed
vasculogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
ventral midline determination	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
9+0 non-motile cilium	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with Golgi apparatus	ISO Inferred from Sequence Orthology more info
axonal growth cone	ISO Inferred from Sequence Orthology more info
colocalizes_with caveola	ISO Inferred from Sequence Orthology more info
cell projection	IEA Inferred from Electronic Annotation more info
ciliary membrane	IDA Inferred from Direct Assay more info	PubMed
ciliary membrane	TAS Traceable Author Statement more info
cilium	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cilium	IDA Inferred from Direct Assay more info	PubMed
cilium	ISO Inferred from Sequence Orthology more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	ISO Inferred from Sequence Orthology more info
dendrite	IBA Inferred from Biological aspect of Ancestor more info	PubMed
dendrite	ISO Inferred from Sequence Orthology more info
dendritic growth cone	ISO Inferred from Sequence Orthology more info
endocytic vesicle membrane	TAS Traceable Author Statement more info
integral component of membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
membrane	IEA Inferred from Electronic Annotation more info
neuronal cell body	ISO Inferred from Sequence Orthology more info
nucleus	ISO Inferred from Sequence Orthology more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	ISO Inferred from Sequence Orthology more info
postsynaptic density	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: smoothened homolog

Names: bent body

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_176996.4 → NP_795970.3 smoothened homolog precursor

See identical proteins and their annotated locations for NP_795970.3

Status: VALIDATED

Source sequence(s)

AC069469, AK081050, AW555326, BB659739, CA749812, CN665198

Consensus CDS

CCDS19965.1

UniProtKB/Swiss-Prot

P56726

UniProtKB/TrEMBL

Q4VBD5, Q8BJN8

Related

ENSMUSP00000001812.4, ENSMUST00000001812.4

Conserved Domains (2) summary

cd07451
Location:70 → 200

CRD_SMO; Cysteine-rich domain of the smoothened receptor (Smo) integral membrane protein

pfam01534
Location:225 → 554

Frizzled; Frizzled/Smoothened family membrane region

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

29735496..29761365

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006505106.5 → XP_006505169.1 smoothened homolog isoform X1

Conserved Domains (2) summary

cd15030
Location:90 → 420

7tmF_SMO_homolog; class F smoothened family membrane region, a homolog of frizzled receptors

cl02447
Location:1 → 66

CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain