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SHH - sonic hedgehog
Entrez Gene Name: sonic hedgehog
Entrez GeneID: Human(6469)
, Mouse(20423), Rat(29499)
, Mouse(20423), Rat(29499) Synonyms: 9530036O11Rik, Dsh, HHG1, HLP3, HPE3, HX, Hxl3, M100081, MCOPCB5, SHH, SMMCI, TPT, TPTPS
Gene Summary
- Human (6469): 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]
- Rat (29499): plays a role in neurogenesis; regulates proliferation of adult hippocampal neural stem cells [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
anatomical structure development, anatomical structure formation involved in morphogenesis, androgen metabolic process, angiogenesis, anterior/posterior pattern formation, apoptosis, artery development, axon guidance, Bergmann glial cell differentiation, blood coagulation, branching involved in prostate gland morphogenesis, branching involved in salivary gland morphogenesis, branching involved in ureteric bud morphogenesis, branching morphogenesis of a tube, bud outgrowth involved in lung branching, camera-type eye development, canonical Wnt receptor signaling pathway, CD4-positive or CD8-positive, alpha-beta T cell lineage commitment, cell communication, cell death, cell development, cell fate commitment, cell fate specification, cell proliferation, cell-cell signaling, cellular response to lithium ion, central nervous system development, determination of left/right symmetry, developmental growth, digestive tract mesoderm development, digestive tract morphogenesis, dorsal/ventral neural tube patterning, dorsal/ventral pattern formation, ectoderm development, embryo development, embryonic digestive tract morphogenesis, embryonic digit morphogenesis, embryonic foregut morphogenesis, embryonic forelimb morphogenesis, embryonic hindlimb morphogenesis, embryonic limb morphogenesis, embryonic morphogenesis, embryonic organ development, embryonic skeletal system development, endocytosis, epithelial cell proliferation involved in salivary gland morphogenesis, epithelial tube branching involved in lung morphogenesis, epithelial-mesenchymal cell signaling, epithelial-mesenchymal signaling involved in prostate gland development, establishment of cell polarity, forebrain development, formation of anatomical boundary, hair follicle development, hair follicle morphogenesis, heart development, heart looping, hindbrain development, hindgut morphogenesis, inner ear development, intein-mediated protein splicing, intermediate filament organization, kidney development, left lung development, limb bud formation, limb development, lung development, lung epithelium development, lung lobe morphogenesis, lung morphogenesis, lung-associated mesenchyme development, lymphoid progenitor cell differentiation, male genitalia development, male genitalia morphogenesis, mesenchymal cell proliferation, mesenchymal cell proliferation involved in lung development, mesenchymal smoothened signaling pathway involved in prostate gland development, metanephric mesenchymal cell proliferation involved in metanephros development, metanephros development, midbrain development, multicellular organismal development, multicellular structure septum development, myoblast differentiation, myotube differentiation, negative regulation of alpha-beta T cell differentiation, negative regulation of apoptosis, negative regulation of canonical Wnt receptor signaling pathway, negative regulation of cell differentiation, negative regulation of cell migration, negative regulation of kidney smooth muscle cell differentiation, negative regulation of proteasomal ubiquitin-dependent protein catabolic process, negative regulation of protein catabolic process, negative regulation of T cell proliferation, negative regulation of transcription elongation from RNA polymerase II promoter, negative regulation of transcription from RNA polymerase II promoter, negative regulation of ureter smooth muscle cell differentiation, negative regulation of Wnt receptor signaling pathway, negative thymic T cell selection, neural crest cell migration, neural tube formation, neuroblast proliferation, neuron fate commitment, odontogenesis, odontogenesis of dentine-containing tooth, oligodendrocyte development, oligodendrocyte differentiation, organ formation, osteoblast development, palate development, pancreas development, pattern specification process, patterning of blood vessels, positive regulation of alpha-beta T cell differentiation, positive regulation of cell differentiation, positive regulation of cell proliferation, positive regulation of cerebellar granule cell precursor proliferation, positive regulation of epithelial cell proliferation involved in prostate gland development, positive regulation of gene expression, positive regulation of hh target transcription factor activity, positive regulation of immature T cell proliferation in thymus, positive regulation of kidney smooth muscle cell differentiation, positive regulation of mesenchymal cell proliferation, positive regulation of neuroblast proliferation, positive regulation of neuron differentiation, positive regulation of oligodendrocyte differentiation, positive regulation of oligodendrocyte progenitor proliferation, positive regulation of penile erection, positive regulation of photoreceptor cell differentiation, positive regulation of protein import into nucleus, positive regulation of skeletal muscle cell proliferation, positive regulation of skeletal muscle tissue development, positive regulation of striated muscle cell differentiation, positive regulation of T cell differentiation in thymus, positive regulation of transcription from RNA polymerase II promoter, positive regulation of transcription, DNA-dependent, positive regulation of ureter smooth muscle cell differentiation, positive regulation of Wnt receptor signaling pathway, positive thymic T cell selection, primary prostatic bud elongation, prostate epithelial cord elongation, prostate gland development, prostatic bud formation, protein localization to nucleus, proteolysis, regulation of apoptosis, regulation of cell proliferation, regulation of epithelial cell differentiation, regulation of epithelial cell proliferation involved in prostate gland development, regulation of gene expression, regulation of mesenchymal cell proliferation involved in prostate gland development, regulation of mesenchymal cell proliferation involved in ureter development, regulation of prostatic bud formation, regulation of proteolysis, regulation of transcription, DNA-dependent, respiratory tube development, response to axon injury, response to estradiol stimulus, response to ethanol, response to hypoxia, response to organic nitrogen, response to retinoic acid, right lung development, salivary gland cavitation, sclerotome development, signal transduction, skin development, smoothened signaling pathway, smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation, spinal cord dorsal/ventral patterning, stem cell development, striated muscle cell differentiation, striated muscle tissue development, T cell differentiation in thymus, telencephalon regionalization, thymus development, thyroid gland development, tongue morphogenesis, trachea development, trachea morphogenesis, vasculature development, vasculogenesis, ventral midline development, ventral spinal cord interneuron specification
Cellular Components
cell surface, endoplasmic reticulum, extracellular matrix, extracellular region, extracellular space, Golgi apparatus, membrane, membrane fraction, membrane raft, nucleus, plasma membrane, transport vesicle
Literature References
- 12629553Watkins DN, Berman DM, Burkholder SG, Wang B, Beachy PA, Baylin SB. Hedgehog signalling within airway epithelial progenitors and in small- cell lung cancer.Nature 2003 Mar 20;422(6929):313-7
- 12231626Riccomagno MM, Martinu L, Mulheisen M, Wu DK, Epstein DJ. Specification of the mammalian cochlea is dependent on Sonic hedgehog.Genes Dev 2002 Sep 15;16(18):2365-78
- 12215652Te Welscher P, Zuniga A, Kuijper S, Drenth T, Goedemans HJ, Meijlink F, Zeller R. Progression of Vertebrate Limb Development Through SHH-Mediated Counteraction of GLI3.Science 2002 10 25;298(5594):827-30
Molecular Functions
calcium ion binding, glycoprotein binding, glycosaminoglycan binding, hydrolase activity, laminin-1 binding, patched binding, peptidase activity, protein binding, receptor binding, signal transducer activity, zinc ion binding
Protein Domains
calcium ion binding, glycoprotein binding, glycosaminoglycan binding, Hedgehog amino-terminal signalling domain, Hint, Hint (Hedgehog/Intein) domain C-terminal region, Hint module, patched binding, peptidase, protein binding, receptor binding, signal transducer, zinc binding domain, zinc ion binding
Subcellular Locations
cell surface, endoplasmic reticulum, extracellular matrix, Extracellular Space, Golgi apparatus, membrane fraction, membrane rafts, Nucleus, transport vesicles