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

    Gene ID: 6608, updated on 6-Sep-2021

    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
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See SMO in Genome Data Viewer
    Location:
    7q32.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (129188633..129213548)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128828474..128853386)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase 2 pseudogene Neighboring gene tetraspanin 33 Neighboring gene RNY1 pseudogene 11 Neighboring gene adenosylhomocysteinase like 2 Neighboring gene Sharpr-MPRA regulatory region 5606 Neighboring gene uncharacterized LOC105375500

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    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 anterior/posterior pattern specification 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 dorsal/ventral neural tube patterning 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 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to 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 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 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 PubMed 
    is_active_in integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    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

    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)

    NEW Try the new Transcript table

    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

    1. NG_023340.2 RefSeqGene

      Range
      4762..29674
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1393

    mRNA and Protein(s)

    1. NM_005631.5NP_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
      Q99835
      Related
      ENSP00000249373.3, ENST00000249373.8
      Conserved Domains (2) summary
      cd07451
      Location:66196
      CRD_SMO; Cysteine-rich domain of the smoothened receptor (Smo) integral membrane protein
      pfam01534
      Location:221550
      Frizzled; Frizzled/Smoothened family membrane region

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      129188633..129213548
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446891.1XP_024302659.1  smoothened homolog isoform X1

      Conserved Domains (2) summary
      cd15030
      Location:90420
      7tmF_SMO_homolog; class F smoothened family membrane region, a homolog of frizzled receptors
      cl02447
      Location:166
      CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain
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