| URN | urn:agi-llid:3243 |
|---|---|
| Connectivity | 658 |
| Name | Shh |
| Description | sonic hedgehog |
| Notes | 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] |
| Pathway | pancreatic cancer pathway |
|---|
| GO Molecular Function | signal transducer activity |
|---|---|
| hydrolase activity | |
| transcription activator activity | |
| glycoprotein binding | |
| receptor binding | |
| laminin-1 binding | |
| patched binding | |
| glycosaminoglycan binding | |
| calcium ion binding | |
| zinc ion binding | |
| peptidase activity |
| GO Cellular Component | extracellular region |
|---|---|
| cell surface | |
| membrane | |
| extracellular space | |
| extracellular matrix | |
| plasma membrane | |
| membrane raft | |
| endoplasmic reticulum | |
| Golgi apparatus | |
| transport vesicle | |
| nucleus | |
| membrane fraction |
| GO Biological Process | cell proliferation |
|---|---|
| cell death | |
| regulation of cell proliferation | |
| mesenchymal cell proliferation | |
| neuroblast proliferation | |
| positive regulation of cell proliferation | |
| cell communication | |
| multicellular organismal development | |
| pattern specification process | |
| developmental growth | |
| anatomical structure development | |
| embryonic development | |
| anatomical structure formation involved in morphogenesis | |
| cell-cell signaling | |
| positive regulation of penile erection | |
| positive regulation of cell differentiation | |
| palate development | |
| forebrain development | |
| inner ear development | |
| midbrain development | |
| hindbrain development | |
| ventral midline development | |
| regulation of epithelial cell proliferation involved in prostate gland development | |
| regulation of mesenchymal cell proliferation involved in prostate gland development | |
| lung lobe morphogenesis | |
| hindgut morphogenesis | |
| hair follicle morphogenesis | |
| digestive tract morphogenesis | |
| embryonic morphogenesis | |
| patterning of blood vessels | |
| negative regulation of cell differentiation | |
| cell fate commitment | |
| cell development | |
| cell fate specification | |
| organ formation | |
| formation of anatomical boundary | |
| limb bud formation | |
| angiogenesis | |
| branching involved in prostate gland morphogenesis | |
| prostate epithelial cord elongation | |
| prostatic bud formation | |
| primary prostatic bud elongation | |
| male genitalia morphogenesis | |
| male genitalia development | |
| prostate gland development | |
| regulation of prostatic bud formation | |
| salivary gland cavitation | |
| neural tube formation | |
| bud outgrowth involved in lung branching | |
| anterior-posterior pattern formation | |
| telencephalon regionalization | |
| dorsal-ventral pattern formation | |
| dorsal-ventral neural tube patterning | |
| spinal cord dorsal-ventral patterning | |
| determination of left-right symmetry | |
| digestive tract mesoderm development | |
| ectoderm development | |
| multicellular structure septum development | |
| central nervous system development | |
| limb development | |
| respiratory tube development | |
| trachea development | |
| vasculature development | |
| pancreas development | |
| kidney development | |
| embryonic organ development | |
| lung development | |
| heart development | |
| artery development | |
| embryonic skeletal system development | |
| positive regulation of granule cell precursor proliferation | |
| positive regulation of neuron differentiation | |
| positive regulation of neuroblast proliferation | |
| positive regulation of oligodendrocyte progenitor proliferation | |
| positive regulation of oligodendrocyte differentiation | |
| positive regulation of photoreceptor cell differentiation | |
| metanephros development | |
| right lung development | |
| left lung development | |
| thyroid gland development | |
| camera-type eye development | |
| positive regulation of skeletal muscle tissue development | |
| lung epithelium development | |
| striated muscle tissue development | |
| skin development | |
| hair follicle development | |
| lung-associated mesenchyme development | |
| myoblast differentiation | |
| striated muscle cell differentiation | |
| negative regulation of smooth muscle cell differentiation | |
| positive regulation of smooth muscle cell differentiation | |
| positive regulation of striated muscle cell differentiation | |
| myotube differentiation | |
| neuron fate commitment | |
| osteoblast development | |
| vasculogenesis | |
| oligodendrocyte development | |
| regulation of epithelial cell differentiation | |
| oligodendrocyte differentiation | |
| negative regulation of alpha-beta T cell differentiation | |
| Bergmann glial cell differentiation | |
| ventral spinal cord interneuron specification | |
| embryo sac morphogenesis | |
| embryonic digestive tract morphogenesis | |
| embryonic digit morphogenesis | |
| embryonic foregut morphogenesis | |
| branching morphogenesis of a tube | |
| tongue morphogenesis | |
| lung morphogenesis | |
| trachea morphogenesis | |
| heart looping | |
| branching involved in ureteric bud morphogenesis | |
| epithelial tube branching involved in lung morphogenesis | |
| branching involved in salivary gland morphogenesis | |
| embryonic limb morphogenesis | |
| embryonic forelimb morphogenesis | |
| embryonic hindlimb morphogenesis | |
| odontogenesis of dentine-containing tooth | |
| epithelial cell proliferation involved in salivary gland morphogenesis | |
| positive regulation of epithelial cell proliferation involved in prostate gland development | |
| blood coagulation | |
| endocytosis | |
| signal transduction | |
| establishment of cell polarity | |
| axon guidance | |
| mesenchymal smoothened signaling pathway involved in prostate gland development | |
| epithelial-mesenchymal signaling involved in prostate gland development | |
| epithelial-mesenchymal cell signaling | |
| positive regulation of Wnt receptor signaling pathway | |
| regulation of transcription | |
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | |
| negative regulation of gene-specific transcription from RNA polymerase II promoter | |
| positive regulation of gene-specific transcription | |
| positive regulation of transcription from RNA polymerase II promoter | |
| positive regulation of gene-specific transcription from RNA polymerase II promoter | |
| positive regulation of hh target transcription factor activity | |
| positive regulation of mesenchymal cell proliferation | |
| positive regulation of skeletal muscle cell proliferation | |
| negative regulation of T cell proliferation | |
| negative regulation of cell migration | |
| negative regulation of apoptosis | |
| positive regulation of protein import into nucleus | |
| neural crest cell migration | |
| androgen metabolic process | |
| intermediate filament organization | |
| apoptosis | |
| mesenchymal cell proliferation involved in lung development | |
| response to hypoxia | |
| response to organic nitrogen | |
| response to ethanol | |
| response to estradiol stimulus | |
| response to retinoic acid | |
| response to axon injury | |
| negative regulation of protein catabolic process | |
| positive regulation of gene expression | |
| regulation of gene expression | |
| regulation of proteolysis | |
| proteolysis | |
| intein-mediated protein splicing | |
| smoothened signaling pathway | |
| smoothened signaling pathway involved in regulation of granule cell precursor cell proliferation |
| Ariadne Ontology | SHH |
|---|
| Group | SHH |
|---|---|
| extracellular region | |
| cell proliferation | |
| cell death | |
| regulation of cell proliferation | |
| mesenchymal cell proliferation | |
| neuroblast proliferation | |
| positive regulation of cell proliferation | |
| cell communication | |
| multicellular organismal development | |
| pattern specification process | |
| developmental growth | |
| anatomical structure development | |
| embryonic development | |
| anatomical structure formation involved in morphogenesis | |
| cell-cell signaling | |
| positive regulation of penile erection | |
| positive regulation of cell differentiation | |
| palate development | |
| forebrain development | |
| inner ear development | |
| midbrain development | |
| hindbrain development | |
| ventral midline development | |
| regulation of epithelial cell proliferation involved in prostate gland development | |
| regulation of mesenchymal cell proliferation involved in prostate gland development | |
| lung lobe morphogenesis | |
| hindgut morphogenesis | |
| hair follicle morphogenesis | |
| digestive tract morphogenesis | |
| embryonic morphogenesis | |
| patterning of blood vessels | |
| negative regulation of cell differentiation | |
| cell fate commitment | |
| cell development | |
| cell fate specification | |
| organ formation | |
| formation of anatomical boundary | |
| limb bud formation | |
| angiogenesis | |
| branching involved in prostate gland morphogenesis | |
| prostate epithelial cord elongation | |
| prostatic bud formation | |
| primary prostatic bud elongation | |
| male genitalia morphogenesis | |
| male genitalia development | |
| prostate gland development | |
| regulation of prostatic bud formation | |
| salivary gland cavitation | |
| neural tube formation | |
| bud outgrowth involved in lung branching | |
| anterior-posterior pattern formation | |
| telencephalon regionalization | |
| dorsal-ventral pattern formation | |
| dorsal-ventral neural tube patterning | |
| spinal cord dorsal-ventral patterning | |
| determination of left-right symmetry | |
| digestive tract mesoderm development | |
| ectoderm development | |
| multicellular structure septum development | |
| central nervous system development | |
| limb development | |
| respiratory tube development | |
| trachea development | |
| vasculature development | |
| pancreas development | |
| kidney development | |
| embryonic organ development | |
| lung development | |
| heart development | |
| artery development | |
| embryonic skeletal system development | |
| positive regulation of granule cell precursor proliferation | |
| positive regulation of neuron differentiation | |
| positive regulation of neuroblast proliferation | |
| positive regulation of oligodendrocyte progenitor proliferation | |
| positive regulation of oligodendrocyte differentiation | |
| positive regulation of photoreceptor cell differentiation | |
| metanephros development | |
| right lung development | |
| left lung development | |
| thyroid gland development | |
| camera-type eye development | |
| positive regulation of skeletal muscle tissue development | |
| lung epithelium development | |
| striated muscle tissue development | |
| skin development | |
| hair follicle development | |
| lung-associated mesenchyme development | |
| myoblast differentiation | |
| striated muscle cell differentiation | |
| negative regulation of smooth muscle cell differentiation | |
| positive regulation of smooth muscle cell differentiation | |
| positive regulation of striated muscle cell differentiation | |
| myotube differentiation | |
| neuron fate commitment | |
| osteoblast development | |
| vasculogenesis | |
| oligodendrocyte development | |
| regulation of epithelial cell differentiation | |
| oligodendrocyte differentiation | |
| negative regulation of alpha-beta T cell differentiation | |
| Bergmann glial cell differentiation | |
| ventral spinal cord interneuron specification | |
| embryo sac morphogenesis | |
| embryonic digestive tract morphogenesis | |
| embryonic digit morphogenesis | |
| embryonic foregut morphogenesis | |
| branching morphogenesis of a tube | |
| tongue morphogenesis | |
| lung morphogenesis | |
| trachea morphogenesis | |
| heart looping | |
| branching involved in ureteric bud morphogenesis | |
| epithelial tube branching involved in lung morphogenesis | |
| branching involved in salivary gland morphogenesis | |
| embryonic limb morphogenesis | |
| embryonic forelimb morphogenesis | |
| embryonic hindlimb morphogenesis | |
| odontogenesis of dentine-containing tooth | |
| epithelial cell proliferation involved in salivary gland morphogenesis | |
| positive regulation of epithelial cell proliferation involved in prostate gland development | |
| blood coagulation | |
| endocytosis | |
| signal transduction | |
| establishment of cell polarity | |
| axon guidance | |
| mesenchymal smoothened signaling pathway involved in prostate gland development | |
| epithelial-mesenchymal signaling involved in prostate gland development | |
| epithelial-mesenchymal cell signaling | |
| positive regulation of Wnt receptor signaling pathway | |
| regulation of transcription | |
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | |
| negative regulation of gene-specific transcription from RNA polymerase II promoter | |
| positive regulation of gene-specific transcription | |
| positive regulation of transcription from RNA polymerase II promoter | |
| positive regulation of gene-specific transcription from RNA polymerase II promoter | |
| positive regulation of hh target transcription factor activity | |
| positive regulation of mesenchymal cell proliferation | |
| positive regulation of skeletal muscle cell proliferation | |
| negative regulation of T cell proliferation | |
| negative regulation of cell migration | |
| negative regulation of apoptosis | |
| positive regulation of protein import into nucleus | |
| neural crest cell migration | |
| androgen metabolic process | |
| intermediate filament organization | |
| apoptosis | |
| mesenchymal cell proliferation involved in lung development | |
| response to hypoxia | |
| response to organic nitrogen | |
| response to ethanol | |
| response to estradiol stimulus | |
| response to retinoic acid | |
| response to axon injury | |
| negative regulation of protein catabolic process | |
| positive regulation of gene expression | |
| regulation of gene expression | |
| regulation of proteolysis | |
| proteolysis | |
| intein-mediated protein splicing | |
| smoothened signaling pathway | |
| smoothened signaling pathway involved in regulation of granule cell precursor cell proliferation | |
| signal transducer activity | |
| hydrolase activity | |
| transcription activator activity | |
| glycoprotein binding | |
| receptor binding | |
| laminin-1 binding | |
| patched binding | |
| glycosaminoglycan binding | |
| calcium ion binding | |
| zinc ion binding | |
| peptidase activity | |
| cell surface | |
| membrane | |
| extracellular space | |
| extracellular matrix | |
| plasma membrane | |
| membrane raft | |
| endoplasmic reticulum | |
| Golgi apparatus | |
| transport vesicle | |
| nucleus | |
| membrane fraction |
| MedScan ID | 3243 |
|---|
| Hugo ID | 10848 |
|---|
| Human chromosome position | 7q36 |
|---|
| LocusLink ID | 3243 |
|---|---|
| 6469 | |
| 20423 | |
| 29499 |
| Alias | TPT |
|---|---|
| HHG1 | |
| HLP3 | |
| HPE3 | |
| SMMCI | |
| TPTPS | |
| MCOPCB5 | |
| sonic hedgehog protein | |
| sonic hedgehog homolog | |
| Hx | |
| Dsh | |
| Hxl3 | |
| M100081 | |
| 9530036O11Rik | |
| HHG-1 | |
| short digits | |
| OTTMUSP00000023583 | |
| hemimelic extra toes | |
| Vhh-1 | |
| HHG I | |
| Histocompatibility X antigen | |
| holoprosencephaly 3 | |
| Shh | |
| short digits mutant | |
| sonic hedgehog | |
| Sonic hedgehog , human homolog of | |
| sonic hedgehog homolog (Drosophila) | |
| Triphalangeal thumb-polysyndactyly syndrome gene | |
| Triphalangeal thumb-polysyndactyly syndrome protein |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 600725 |
|---|---|
| 120200 | |
| 142945 | |
| 611638 | |
| 174500 | |
| 147250 |
| Mouse chromosome position | 5 16.0 cM |
|---|
| GO ID | 0005509 |
|---|---|
| 0001948 | |
| 0005539 | |
| 0043237 | |
| 0005113 | |
| 0008233 | |
| 0004871 | |
| 0016563 | |
| 0008270 | |
| 0060020 | |
| 0008209 | |
| 0009952 | |
| 0060840 | |
| 0007411 | |
| 0007596 | |
| 0060445 | |
| 0001658 | |
| 0048754 | |
| 0060447 | |
| 0043010 | |
| 0008219 | |
| 0048468 | |
| 0001708 | |
| 0007267 | |
| 0007417 | |
| 0007368 | |
| 0048589 | |
| 0007502 | |
| 0021904 | |
| 0009953 | |
| 0007398 | |
| 0048314 | |
| 0009790 | |
| 0048557 | |
| 0042733 | |
| 0048617 | |
| 0035115 | |
| 0035116 | |
| 0030326 | |
| 0048568 | |
| 0048706 | |
| 0006897 | |
| 0060664 | |
| 0060738 | |
| 0030010 | |
| 0030900 | |
| 0048859 | |
| 0031069 | |
| 0007507 | |
| 0001947 | |
| 0030902 | |
| 0007442 | |
| 0048839 | |
| 0016539 | |
| 0045109 | |
| 0060459 | |
| 0060174 | |
| 0060173 | |
| 0030324 | |
| 0060428 | |
| 0060463 | |
| 0060484 | |
| 0030539 | |
| 0048808 | |
| 0060916 | |
| 0060783 | |
| 0001656 | |
| 0030901 | |
| 0080125 | |
| 0045445 | |
| 0014902 | |
| 0042130 | |
| 0046639 | |
| 0043066 | |
| 0045596 | |
| 0030336 | |
| 0010553 | |
| 0032435 | |
| 0051151 | |
| 0001755 | |
| 0001841 | |
| 0007405 | |
| 0048663 | |
| 0042475 | |
| 0014003 | |
| 0048645 | |
| 0002076 | |
| 0031016 | |
| 0007389 | |
| 0001569 | |
| 0008284 | |
| 0060769 | |
| 0010628 | |
| 0010552 | |
| 0021940 | |
| 0007228 | |
| 0002053 | |
| 0002052 | |
| 0048714 | |
| 0070447 | |
| 0060406 | |
| 0046534 | |
| 0042307 | |
| 0014858 | |
| 0048643 | |
| 0051152 | |
| 0051155 | |
| 0060516 | |
| 0060523 | |
| 0030850 | |
| 0042127 | |
| 0030856 | |
| 0060782 | |
| 0060685 | |
| 0030162 | |
| 0045449 | |
| 0048678 | |
| 0032355 | |
| 0045471 | |
| 0001666 | |
| 0010243 | |
| 0032526 | |
| 0060458 | |
| 0060662 | |
| 0043588 | |
| 0007224 | |
| 0021938 | |
| 0021513 | |
| 0014706 | |
| 0021978 | |
| 0030878 | |
| 0043587 | |
| 0060439 | |
| 0001944 | |
| 0001570 | |
| 0007418 | |
| 0021521 | |
| 0005794 | |
| 0009986 | |
| 0005783 | |
| 0031012 | |
| 0005576 | |
| 0005615 | |
| 0005624 | |
| 0045121 | |
| 0005634 | |
| 0005886 | |
| 0030133 | |
| 0016787 | |
| 0048856 | |
| 0048646 | |
| 0001525 | |
| 0006915 | |
| 0060442 | |
| 0007154 | |
| 0045165 | |
| 0008283 | |
| 0048546 | |
| 0048598 | |
| 0060441 | |
| 0060684 | |
| 0001942 | |
| 0001822 | |
| 0060425 | |
| 0010463 | |
| 0007275 | |
| 0042177 | |
| 0048709 | |
| 0060021 | |
| 0030177 | |
| 0045597 | |
| 0043193 | |
| 0045666 | |
| 0045944 | |
| 0060513 | |
| 0006508 | |
| 0060768 | |
| 0010468 | |
| 0030323 | |
| 0007165 | |
| 0051146 | |
| 0060438 | |
| 0016020 | |
| 0005102 |
| Rat chromosome position | 4q11 |
|---|
| Swiss-Prot Accession | Q15465 |
|---|---|
| Q62226 | |
| Q8C765 | |
| Q63673 | |
| Q9R179 | |
| A4D247 | |
| Q75MC9 |
| PIR ID | A49425 |
|---|---|
| B53193 |
| Unigene ID | Hs.164537 |
|---|---|
| Mm.57202 | |
| Rn.10432 |
| KEGG ID | hsa:6469 |
|---|---|
| mmu:20423 | |
| rno:29499 |
| Swiss-Prot ID | SHH_MOUSE |
|---|---|
| SHH_RAT | |
| SHH_HUMAN |
| Cell Localization | Secreted |
|---|---|
| extracellular space | |
| Cell membrane | |
| Extracellular |
| IPI ID | IPI00123314 |
|---|---|
| IPI00211101 | |
| IPI00017480 | |
| IPI00893003 | |
| IPI00892712 | |
| IPI00894434 |
| Homologene ID | 30961 |
|---|
| RGD ID | 3673 |
|---|
| MGI ID | 98297 |
|---|