SMO smoothened, frizzled class receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: SMOprovided by HGNC
Official Full Name: smoothened, frizzled class receptorprovided by HGNC
Primary source: HGNC:HGNC:11119
See related: Ensembl:ENSG00000128602 MIM:601500; AllianceGenome:HGNC:11119
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Gx; CRJS; PHLS; SMOH; FZD11
Summary: The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]
Expression: Broad expression in ovary (RPKM 15.6), endometrium (RPKM 13.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q32.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (129188633..129213545)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (130501540..130526468)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (128828474..128853386)

Chromosome 7 - NC_000007.14 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic Study of BRAF V600E and SMO L412F Mutations in Japanese Patients with Ameloblastoma.
Title: Genetic Study of <i>BRAF</i> V600E and <i>SMO</i> L412F Mutations in Japanese Patients with Ameloblastoma.
Smoothened (SMO) regulates insulin-like growth factor 1 receptor (IGF1R) levels and protein kinase B (AKT) localization and signaling.
Title: Smoothened (SMO) regulates insulin-like growth factor 1 receptor (IGF1R) levels and protein kinase B (AKT) localization and signaling.
Understanding Abnormal SMO-SHH Signaling in Autism Spectrum Disorder: Potential Drug Target and Therapeutic Goals.
Title: Understanding Abnormal SMO-SHH Signaling in Autism Spectrum Disorder: Potential Drug Target and Therapeutic Goals.
[Detection of SMO gene mutations in odontogenic keratocyst].
Title: [Detection of SMO gene mutations in odontogenic keratocyst].
Patched 1 reduces the accessibility of cholesterol in the outer leaflet of membranes.
Title: Patched 1 reduces the accessibility of cholesterol in the outer leaflet of membranes.
A novel protein encoded by circular SMO RNA is essential for Hedgehog signaling activation and glioblastoma tumorigenicity.
Title: A novel protein encoded by circular SMO RNA is essential for Hedgehog signaling activation and glioblastoma tumorigenicity.
Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes.
Title: Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes.
sEVs from tonsil-derived mesenchymal stromal cells alleviate activation of hepatic stellate cells and liver fibrosis through miR-486-5p.
Title: sEVs from tonsil-derived mesenchymal stromal cells alleviate activation of hepatic stellate cells and liver fibrosis through miR-486-5p.
Signaling in the primary cilium through the lens of the Hedgehog pathway.
Title: Signaling in the primary cilium through the lens of the Hedgehog pathway.
MIRLET7BHG promotes hepatocellular carcinoma progression by activating hepatic stellate cells through exosomal SMO to trigger Hedgehog pathway.
Title: MIRLET7BHG promotes hepatocellular carcinoma progression by activating hepatic stellate cells through exosomal SMO to trigger Hedgehog pathway.

Submit: New GeneRIF Correction See all GeneRIFs (126)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Basal cell carcinoma, susceptibility to, 1 MedGen: C2751544 OMIM: 605462 GeneReviews: Not available	Compare labs
Curry-Jones syndrome MedGen: C0795915 OMIM: 601707 GeneReviews: Not available	Compare labs
Hamartoma of hypothalamus MedGen: C0342418 OMIM: 241800 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_16819-16820:1021560442:1 (e-PCR)
- UniSTS:268130

RH121944 (e-PCR)
- UniSTS:95082

RH12557 (e-PCR)
- UniSTS:37016

RH16231 (e-PCR)
- UniSTS:31427

SMO_853 (e-PCR)
- UniSTS:277755

SMO_V157 (e-PCR)
- UniSTS:277755

Homology

Homologs of the SMO gene: The SMO gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 462 organisms have orthologs with human gene SMO
Orthologs

Gene Ontology Provided by GOA

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

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

Component	Evidence Code	Pubs
located_in 9+0 non-motile cilium	IEA Inferred from Electronic Annotation more info
colocalizes_with Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with caveola	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	IEA Inferred from Electronic Annotation more info
located_in ciliary membrane	TAS Traceable Author Statement more info
located_in ciliary tip	TAS Traceable Author Statement more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in cilium	TAS Traceable Author Statement more info	PubMed
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: smoothened homolog

Names: frizzled family member 11; protein Gx; seven transmembrane helix receptor; smoothened, frizzled family receptor; smoothened, seven transmembrane spanning receptor

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.

Genomic

NG_023340.2 RefSeqGene

Range

4762..29674

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1393

mRNA and Protein(s)

NM_005631.5 → NP_005622.1 smoothened homolog precursor

See identical proteins and their annotated locations for NP_005622.1

Status: REVIEWED

Source sequence(s)

AC011005

Consensus CDS

CCDS5811.1

UniProtKB/Swiss-Prot

A4D1K5, Q99835

Related

ENSP00000249373.3, ENST00000249373.8

Conserved Domains (2) summary

cd07451
Location:66 → 196

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

pfam01534
Location:221 → 550

Frizzled; Frizzled/Smoothened family membrane region