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    SHH sonic hedgehog signaling molecule [ Homo sapiens (human) ]

    Gene ID: 6469, updated on 23-Nov-2023

    Summary

    Official Symbol
    SHHprovided by HGNC
    Official Full Name
    sonic hedgehog signaling moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:10848
    See related
    Ensembl:ENSG00000164690 MIM:600725; AllianceGenome:HGNC:10848
    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; ShhNC; 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]
    Expression
    Biased expression in stomach (RPKM 3.1), urinary bladder (RPKM 2.9) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SHH in Genome Data Viewer
    Location:
    7q36.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (155799980..155812463, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (156983127..156995607, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (155592674..155605157, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:155436294-155437248 Neighboring gene RBM33 divergent transcript Neighboring gene RNA binding motif protein 33 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26899 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:155520719-155521219 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:155534138-155535337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26901 Neighboring gene VISTA enhancer hs1268 Neighboring gene Sharpr-MPRA regulatory region 9615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26902 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:155561116-155561309 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:155567610-155568809 Neighboring gene Sharpr-MPRA regulatory region 3765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:155574696-155575231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:155575232-155575766 Neighboring gene MPRA-validated peak6863 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26903 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:155597860-155598829 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:155598830-155599798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:155607457-155608100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:155608399-155608900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:155628074-155629066 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:155632935-155634134 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:155638472-155638619 Neighboring gene MPRA-validated peak6864 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:155661375-155662574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26904 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:155678617-155679816 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:155743904-155745103 Neighboring gene uncharacterized LOC124901788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:155745489-155745989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:155747182-155747910 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:155754590-155755789 Neighboring gene uncharacterized LOC389602

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Holoprosencephaly 3
    MedGen: C1840529 OMIM: 142945 GeneReviews: Holoprosencephaly Overview
    Compare labs
    Microphthalmia, isolated, with coloboma 5
    MedGen: C1968843 OMIM: 611638 GeneReviews: Not available
    Compare labs
    Schizencephaly
    MedGen: C0266484 OMIM: 269160 GeneReviews: Not available
    Compare labs
    Solitary median maxillary central incisor
    MedGen: C1840235 OMIM: 147250 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-06-24)

    ClinGen Genome Curation PagePubMed
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-24)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
    EBI GWAS Catalog
    Identification of a candidate gene for astigmatism.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    sonic hedgehog protein
    Names
    shh unprocessed N-terminal signaling and C-terminal autoprocessing domains
    sonic hedgehog homolog

    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_007504.2 RefSeqGene

      Range
      4811..17294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000193.4NP_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
      A4D247, Q15465, Q75MC9
      UniProtKB/TrEMBL
      D9ZGF9
      Related
      ENSP00000297261.2, ENST00000297261.7
      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_001310462.2NP_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)
      AC078834, AI192528, AY927452, AY927455
      UniProtKB/TrEMBL
      C9JC48
      Related
      ENSP00000396621.1, ENST00000430104.5
      Conserved Domains (1) summary
      pfam01085
      Location:1297
      HH_signal; Hedgehog amino-terminal signalling domain

    RNA

    1. NR_132318.2 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
    2. NR_132319.2 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      155799980..155812463 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420718.1XP_047276674.1  sonic hedgehog protein isoform X2

    2. XM_011516479.3XP_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
    3. XM_011516480.3XP_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 T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      156983127..156995607 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358808.1XP_054214783.1  sonic hedgehog protein isoform X2

    2. XM_054358806.1XP_054214781.1  sonic hedgehog protein isoform X1

    3. XM_054358807.1XP_054214782.1  sonic hedgehog protein isoform X1