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    SHH sonic hedgehog [ Homo sapiens (human) ]

    Gene ID: 6469, updated on 16-Jul-2017
    Official Symbol
    SHHprovided by HGNC
    Official Full Name
    sonic hedgehogprovided by HGNC
    Primary source
    HGNC:HGNC:10848
    See related
    Ensembl:ENSG00000164690 MIM:600725; Vega:OTTHUMG00000151349
    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
    TPT; HHG1; HLP3; HPE3; SMMCI; TPTPS; MCOPCB5
    Summary
    This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    7q36.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (155799984..155812273, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (155595558..155604967, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506302 Neighboring gene RNA binding motif protein 33 Neighboring gene uncharacterized LOC389602 Neighboring gene uncharacterized LOC105375597

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    Little evidence for dosage pathogenicity (Last evaluated (2012-02-23)

    ClinGen Genome Curation PagePubMed
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-02-23)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
    NHGRI GWA Catalog
    Identification of a candidate gene for astigmatism.
    NHGRI GWA Catalog
    • Activation of SMO, organism-specific biosystem (from REACTOME)
      Activation of SMO, organism-specific biosystemActivation of the transmembrane protein SMO in response to Hh stimulation is a major control point in the Hh signaling pathway (reviewed in Ayers and Therond, 2010; Jiang and Hui, 2008). In the absen...
    • Axon guidance, organism-specific biosystem (from KEGG)
      Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Axon guidance, conserved biosystem (from KEGG)
      Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Basal cell carcinoma, organism-specific biosystem (from KEGG)
      Basal cell carcinoma, organism-specific biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
    • Basal cell carcinoma, conserved biosystem (from KEGG)
      Basal cell carcinoma, conserved biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
    • Class B/2 (Secretin family receptors), organism-specific biosystem (from REACTOME)
      Class B/2 (Secretin family receptors), organism-specific biosystemThis family is known as Family B (secretin-receptor family, family 2) G-protein-coupled receptors. Family B GPCRs include secretin, calcitonin, parathyroid hormone/parathyroid hormone-related peptide...
    • Differentiation Pathway, organism-specific biosystem (from WikiPathways)
      Differentiation Pathway, organism-specific biosystemThis pathway provides an overview of the directed differentiation molecules used to induce early and derivative cell lineages from human pluripotent stem cells. The initial version of this pathway is...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • Dopaminergic Neurogenesis, organism-specific biosystem (from WikiPathways)
      Dopaminergic Neurogenesis, organism-specific biosystemConverted to human from mouse: http://www.wikipathways.org/index.php/Pathway:WP1498
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • FOXA1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      FOXA1 transcription factor network, organism-specific biosystem
      FOXA1 transcription factor network
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • Glypican 3 network, organism-specific biosystem (from Pathway Interaction Database)
      Glypican 3 network, organism-specific biosystem
      Glypican 3 network
    • HHAT G278V abrogates palmitoylation of Hh-Np, organism-specific biosystem (from REACTOME)
      HHAT G278V abrogates palmitoylation of Hh-Np, organism-specific biosystemA loss-of-function mutation in HHAT that abrogates palmitoylation of Hh ligand is associated with Syndromic 46, XY Disorder of Sex Development, which results in testis dysgenesis (Callier et al, 2014...
    • Heart Development, organism-specific biosystem (from WikiPathways)
      Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
    • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
      Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
    • Hedgehog Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Hedgehog Signaling Pathway, organism-specific biosystemThe Hedgehog family of proteins are signaling proteins that are crucial for a number of physiological processes including morphogenesis during development. In adult organisms, it is also involved in ...
    • Hedgehog ligand biogenesis, organism-specific biosystem (from REACTOME)
      Hedgehog ligand biogenesis, organism-specific biosystemMammalian genomes encode three Hedgehog ligands, Sonic Hedgehog (SHH), Indian Hedgehog (IHH) and Desert Hedgehog (DHH). These secreted morphogens can remain associated with lipid rafts on the surfac...
    • Hedgehog signaling, organism-specific biosystem (from KEGG)
      Hedgehog signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • Hedgehog signaling, conserved biosystem (from KEGG)
      Hedgehog signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem (from Pathway Interaction Database)
      Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem
      Hedgehog signaling events mediated by Gli proteins
    • Hedgehog signaling pathway, organism-specific biosystem (from KEGG)
      Hedgehog signaling pathway, organism-specific biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
    • Hedgehog signaling pathway, conserved biosystem (from KEGG)
      Hedgehog signaling pathway, conserved biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
    • Hh mutants abrogate ligand secretion, organism-specific biosystem (from REACTOME)
      Hh mutants abrogate ligand secretion, organism-specific biosystemHh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a n...
    • Hh mutants that don't undergo autocatalytic processing are degraded by ERAD, organism-specific biosystem (from REACTOME)
      Hh mutants that don't undergo autocatalytic processing are degraded by ERAD, organism-specific biosystemHh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a n...
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • Ligand-receptor interactions, organism-specific biosystem (from REACTOME)
      Ligand-receptor interactions, organism-specific biosystemRepression of Hh signaling in the absence of ligand depends on the transmembrane receptor protein Patched (PTCH), which inhibits Smoothened (SMO) activity by an unknown mechanism. This promotes the p...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
      Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Proteoglycans in cancer, conserved biosystem (from KEGG)
      Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Release of Hh-Np from the secreting cell, organism-specific biosystem (from REACTOME)
      Release of Hh-Np from the secreting cell, organism-specific biosystemCholesterol and palmitoyl-modification of Hh-Np render the ligand highly hydrophobic and results in its close association with the plasma membrane of the producing cell after secretion. Hh-Np tether...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
      Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
    • Signaling events mediated by the Hedgehog family, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by the Hedgehog family, organism-specific biosystem
      Signaling events mediated by the Hedgehog family
    • Tgif disruption of Shh signaling, organism-specific biosystem (from WikiPathways)
      Tgif disruption of Shh signaling, organism-specific biosystemMutations in the Sonic Hedgehog(SHH) gene result in HPE in humans and mice, and the Shh pathway is targeted by other mutations that cause HPE. HPE is a severe human genetic disease affecting craniofa...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycosaminoglycan binding IEA
    Inferred from Electronic Annotation
    more info
     
    laminin-1 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    morphogen activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    morphogen activity TAS
    Traceable Author Statement
    more info
    PubMed 
    patched binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    Bergmann glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    CD4-positive or CD8-positive, alpha-beta T cell lineage commitment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    T cell differentiation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    androgen metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    animal organ formation IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    artery development IEA
    Inferred from Electronic Annotation
    more info
     
    axon guidance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    branching involved in blood vessel morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    branching involved in salivary gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    branching involved in ureteric bud morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    branching morphogenesis of an epithelial tube ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    bud outgrowth involved in lung branching IEA
    Inferred from Electronic Annotation
    more info
     
    camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell fate specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell-cell signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to lithium ion IEA
    Inferred from Electronic Annotation
    more info
     
    central nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cerebellar granule cell precursor proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    determination of left/right asymmetry in lateral mesoderm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dopaminergic neuron differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    dorsal/ventral pattern formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ectoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    embryo development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digit morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic foregut morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic forelimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic limb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic pattern specification TAS
    Traceable Author Statement
    more info
    PubMed 
    embryonic skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell proliferation involved in salivary gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial-mesenchymal signaling involved in prostate gland development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    establishment of cell polarity IEA
    Inferred from Electronic Annotation
    more info
     
    forebrain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    formation of anatomical boundary IEA
    Inferred from Electronic Annotation
    more info
     
    hair follicle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hindbrain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hindgut morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear development IEA
    Inferred from Electronic Annotation
    more info
     
    intein-mediated protein splicing IEA
    Inferred from Electronic Annotation
    more info
     
    intermediate filament organization IEA
    Inferred from Electronic Annotation
    more info
     
    left lung development IEA
    Inferred from Electronic Annotation
    more info
     
    limb bud formation IEA
    Inferred from Electronic Annotation
    more info
     
    lung development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lung epithelium development IEA
    Inferred from Electronic Annotation
    more info
     
    lung lobe morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    lung-associated mesenchyme development IEA
    Inferred from Electronic Annotation
    more info
     
    lymphoid progenitor cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    male genitalia development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mesenchymal cell proliferation involved in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    mesenchymal smoothened signaling pathway involved in prostate gland development IEA
    Inferred from Electronic Annotation
    more info
     
    metanephric mesenchymal cell proliferation involved in metanephros development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metanephros development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    midbrain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    myoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    myotube differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of alpha-beta T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cholesterol efflux ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of dopaminergic neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of kidney smooth muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of mesenchymal cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription elongation from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of ureter smooth muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative thymic T cell selection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neural crest cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuroblast proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    oligodendrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    osteoblast development IEA
    Inferred from Electronic Annotation
    more info
     
    palate development IEA
    Inferred from Electronic Annotation
    more info
     
    pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    pattern specification process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    polarity specification of anterior/posterior axis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of T cell differentiation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of alpha-beta T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell division IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of epithelial cell proliferation involved in prostate gland development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of hh target transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of immature T cell proliferation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of kidney smooth muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of mesenchymal cell proliferation involved in ureter development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of sclerotome development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of skeletal muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of smoothened signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of striated muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of ureter smooth muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive thymic T cell selection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    primary prostatic bud elongation IEA
    Inferred from Electronic Annotation
    more info
     
    prostate epithelial cord elongation IEA
    Inferred from Electronic Annotation
    more info
     
    prostate gland development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein localization to nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of mesenchymal cell proliferation involved in prostate gland development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of odontogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of prostatic bud formation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of protein localization to nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    renal system development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    right lung development IEA
    Inferred from Electronic Annotation
    more info
     
    salivary gland cavitation IEA
    Inferred from Electronic Annotation
    more info
     
    smoothened signaling pathway IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    somite development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    spinal cord dorsal/ventral patterning IEA
    Inferred from Electronic Annotation
    more info
     
    spinal cord motor neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    stem cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    striated muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    telencephalon regionalization IEA
    Inferred from Electronic Annotation
    more info
     
    thalamus development IEA
    Inferred from Electronic Annotation
    more info
     
    thymus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    thyroid gland development IEA
    Inferred from Electronic Annotation
    more info
     
    trachea morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    tracheoesophageal septum formation IEA
    Inferred from Electronic Annotation
    more info
     
    vasculogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventral midline development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    sonic hedgehog protein
    Names
    sonic hedgehog homolog

    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_007504.2 RefSeqGene

      Range
      5001..15034
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000193.3NP_000184.1  sonic hedgehog protein isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_000184.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC078834, BX109787, BX452210, BY797055, L38518
      Consensus CDS
      CCDS5942.1
      UniProtKB/Swiss-Prot
      Q15465
      Related
      ENSP00000297261.2, OTTHUMP00000199886, ENST00000297261.6, OTTHUMT00000322327
      Conserved Domains (3) summary
      cd00081
      Location:198363
      Hint; Hedgehog/Intein domain, found in Hedgehog proteins as well as proteins which contain inteins and undergo protein splicing (e.g. DnaB, RIR1-2, GyrA and Pol). In protein splicing an intervening polypeptide sequence - the intein - is excised from a protein, ...
      pfam01079
      Location:187448
      Hint; Hint module
      pfam01085
      Location:39184
      HH_signal; Hedgehog amino-terminal signalling domain
    2. NM_001310462.1NP_001297391.1  sonic hedgehog protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 1. It encodes isoform 2 which has a shorter and distinct N-terminus and a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI192528, AY927452, AY927455
      Related
      ENSP00000396621.1, OTTHUMP00000199887, ENST00000430104.5, OTTHUMT00000322329
      Conserved Domains (1) summary
      pfam01085
      Location:1297
      HH_signal; Hedgehog amino-terminal signalling domain

    RNA

    1. NR_132318.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC078834, AI192528, AY927453, AY927454, L38518
      Related
      ENST00000441114.5, OTTHUMT00000322331
    2. NR_132319.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC078834, AI192528, AY927453
      Related
      ENST00000435425.1, OTTHUMT00000322330

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      155799984..155812273 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516479.2XP_011514781.1  sonic hedgehog protein isoform X1

      See identical proteins and their annotated locations for XP_011514781.1

      Conserved Domains (3) summary
      cd00081
      Location:111276
      Hint; Hedgehog/Intein domain, found in Hedgehog proteins as well as proteins which contain inteins and undergo protein splicing (e.g. DnaB, RIR1-2, GyrA and Pol). In protein splicing an intervening polypeptide sequence - the intein - is excised from a protein, ...
      pfam01079
      Location:100361
      Hint; Hint module
      pfam01085
      Location:1297
      HH_signal; Hedgehog amino-terminal signalling domain
    2. XM_011516480.2XP_011514782.1  sonic hedgehog protein isoform X1

      See identical proteins and their annotated locations for XP_011514782.1

      Conserved Domains (3) summary
      cd00081
      Location:111276
      Hint; Hedgehog/Intein domain, found in Hedgehog proteins as well as proteins which contain inteins and undergo protein splicing (e.g. DnaB, RIR1-2, GyrA and Pol). In protein splicing an intervening polypeptide sequence - the intein - is excised from a protein, ...
      pfam01079
      Location:100361
      Hint; Hint module
      pfam01085
      Location:1297
      HH_signal; Hedgehog amino-terminal signalling domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      155601138..155613409 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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