GENERAL INFORMATIONi
Gene namei SHH
Synonyms HHG1, HLP3, HPE3, MCOPCB5, SMMCI, TPT, TPTPS
Gene descriptioni Sonic hedgehog signaling molecule
Protein classi Disease related genes
Human disease related genes
Predicted locationi Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi
Chromosome 7
Cytoband q36.3
Chromosome location (bp) 155799980 - 155812463
Number of transcriptsi 2
Ensembl ENSG00000164690 (version 109)
Entrez gene 6469
HGNC HGNC:10848
UniProt Q15465 (UniProt - Evidence at protein level)
neXtProt NX_Q15465
GeneCards SHH
Antibodypedia SHH antibodies


PROTEIN FUNCTION
Protein function (UniProt)i [Sonic hedgehog protein]: The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN (By similarity). Both activities occur in the reticulum endoplasmic (By similarity). Once cleaved, ShhC is degraded in the endoplasmic reticulum (By similarity). show less
Molecular function (UniProt)i Developmental protein, Hydrolase, Protease, Transferase
Ligand (UniProt)i Calcium, Metal-binding, Zinc
Gene summary (Entrez)i 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] show less
PROTEIN INFORMATIONi
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
SHH-201
ENSP00000297261
ENST00000297261
Q15465
[Direct mapping] Sonic hedgehog protein Sonic hedgehog protein N-product
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepTMHMM predicted secreted proteins
   DeepSig predicted secreted proteins
Predicted intracellular proteins
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of eye
   Congenital malformations of the digestive system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000139 [Golgi membrane]
GO:0001525 [angiogenesis]
GO:0001569 [branching involved in blood vessel morphogenesis]
GO:0001570 [vasculogenesis]
GO:0001656 [metanephros development]
GO:0001658 [branching involved in ureteric bud morphogenesis]
GO:0001708 [cell fate specification]
GO:0001755 [neural crest cell migration]
GO:0001822 [kidney development]
GO:0001942 [hair follicle development]
GO:0001944 [vasculature development]
GO:0001947 [heart looping]
GO:0002052 [positive regulation of neuroblast proliferation]
GO:0002053 [positive regulation of mesenchymal cell proliferation]
GO:0002076 [osteoblast development]
GO:0002320 [lymphoid progenitor cell differentiation]
GO:0003140 [determination of left/right asymmetry in lateral mesoderm]
GO:0004175 [endopeptidase activity]
GO:0005113 [patched binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005539 [glycosaminoglycan binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005783 [endoplasmic reticulum]
GO:0005788 [endoplasmic reticulum lumen]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006508 [proteolysis]
GO:0006606 [protein import into nucleus]
GO:0006897 [endocytosis]
GO:0007224 [smoothened signaling pathway]
GO:0007228 [positive regulation of hh target transcription factor activity]
GO:0007267 [cell-cell signaling]
GO:0007275 [multicellular organism development]
GO:0007368 [determination of left/right symmetry]
GO:0007389 [pattern specification process]
GO:0007398 [ectoderm development]
GO:0007405 [neuroblast proliferation]
GO:0007411 [axon guidance]
GO:0007417 [central nervous system development]
GO:0007418 [ventral midline development]
GO:0007442 [hindgut morphogenesis]
GO:0007507 [heart development]
GO:0007519 [skeletal muscle tissue development]
GO:0007596 [blood coagulation]
GO:0008209 [androgen metabolic process]
GO:0008233 [peptidase activity]
GO:0008270 [zinc ion binding]
GO:0008283 [cell population proliferation]
GO:0008284 [positive regulation of cell population proliferation]
GO:0009880 [embryonic pattern specification]
GO:0009949 [polarity specification of anterior/posterior axis]
GO:0009952 [anterior/posterior pattern specification]
GO:0009953 [dorsal/ventral pattern formation]
GO:0009986 [cell surface]
GO:0010463 [mesenchymal cell proliferation]
GO:0010467 [gene expression]
GO:0010468 [regulation of gene expression]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0014003 [oligodendrocyte development]
GO:0014706 [striated muscle tissue development]
GO:0014856 [skeletal muscle cell proliferation]
GO:0014858 [positive regulation of skeletal muscle cell proliferation]
GO:0014902 [myotube differentiation]
GO:0016015 []
GO:0016020 [membrane]
GO:0016477 [cell migration]
GO:0016539 [intein-mediated protein splicing]
GO:0016540 [protein autoprocessing]
GO:0016740 [transferase activity]
GO:0016787 [hydrolase activity]
GO:0021513 [spinal cord dorsal/ventral patterning]
GO:0021522 [spinal cord motor neuron differentiation]
GO:0021794 [thalamus development]
GO:0021871 [forebrain regionalization]
GO:0021904 [dorsal/ventral neural tube patterning]
GO:0021924 [cell proliferation in external granule layer]
GO:0021930 [cerebellar granule cell precursor proliferation]
GO:0021938 [smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation]
GO:0021940 [positive regulation of cerebellar granule cell precursor proliferation]
GO:0021978 [telencephalon regionalization]
GO:0030162 [regulation of proteolysis]
GO:0030177 [positive regulation of Wnt signaling pathway]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0030182 [neuron differentiation]
GO:0030323 [respiratory tube development]
GO:0030324 [lung development]
GO:0030326 [embryonic limb morphogenesis]
GO:0030336 [negative regulation of cell migration]
GO:0030539 [male genitalia development]
GO:0030850 [prostate gland development]
GO:0030878 [thyroid gland development]
GO:0030900 [forebrain development]
GO:0030901 [midbrain development]
GO:0030902 [hindbrain development]
GO:0031012 [extracellular matrix]
GO:0031016 [pancreas development]
GO:0031069 [hair follicle morphogenesis]
GO:0032091 [negative regulation of protein binding]
GO:0032435 [negative regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0033077 [T cell differentiation in thymus]
GO:0033085 [negative regulation of T cell differentiation in thymus]
GO:0033089 [positive regulation of T cell differentiation in thymus]
GO:0033092 [positive regulation of immature T cell proliferation in thymus]
GO:0034244 [negative regulation of transcription elongation by RNA polymerase II]
GO:0034504 [protein localization to nucleus]
GO:0035115 [embryonic forelimb morphogenesis]
GO:0035116 [embryonic hindlimb morphogenesis]
GO:0036484 [trunk neural crest cell migration]
GO:0042098 [T cell proliferation]
GO:0042127 [regulation of cell population proliferation]
GO:0042130 [negative regulation of T cell proliferation]
GO:0042177 [negative regulation of protein catabolic process]
GO:0042307 [positive regulation of protein import into nucleus]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0042476 [odontogenesis]
GO:0042481 [regulation of odontogenesis]
GO:0042733 [embryonic digit morphogenesis]
GO:0043010 [camera-type eye development]
GO:0043066 [negative regulation of apoptotic process]
GO:0043237 [laminin-1 binding]
GO:0043369 [CD4-positive or CD8-positive, alpha-beta T cell lineage commitment]
GO:0043588 [skin development]
GO:0045059 [positive thymic T cell selection]
GO:0045060 [negative thymic T cell selection]
GO:0045109 [intermediate filament organization]
GO:0045121 [membrane raft]
GO:0045165 [cell fate commitment]
GO:0045445 [myoblast differentiation]
GO:0045596 [negative regulation of cell differentiation]
GO:0045665 [negative regulation of neuron differentiation]
GO:0045880 [positive regulation of smoothened signaling pathway]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046632 [alpha-beta T cell differentiation]
GO:0046638 [positive regulation of alpha-beta T cell differentiation]
GO:0046639 [negative regulation of alpha-beta T cell differentiation]
GO:0046872 [metal ion binding]
GO:0048468 [cell development]
GO:0048513 [animal organ development]
GO:0048538 [thymus development]
GO:0048546 [digestive tract morphogenesis]
GO:0048557 [embryonic digestive tract morphogenesis]
GO:0048568 [embryonic organ development]
GO:0048589 [developmental growth]
GO:0048598 [embryonic morphogenesis]
GO:0048617 [embryonic foregut morphogenesis]
GO:0048643 [positive regulation of skeletal muscle tissue development]
GO:0048645 [animal organ formation]
GO:0048646 [anatomical structure formation involved in morphogenesis]
GO:0048663 [neuron fate commitment]
GO:0048706 [embryonic skeletal system development]
GO:0048708 [astrocyte differentiation]
GO:0048709 [oligodendrocyte differentiation]
GO:0048711 [positive regulation of astrocyte differentiation]
GO:0048714 [positive regulation of oligodendrocyte differentiation]
GO:0048731 [system development]
GO:0048745 [smooth muscle tissue development]
GO:0048754 [branching morphogenesis of an epithelial tube]
GO:0048839 [inner ear development]
GO:0048856 [anatomical structure development]
GO:0048859 [formation of anatomical boundary]
GO:0048864 [stem cell development]
GO:0050673 [epithelial cell proliferation]
GO:0050679 [positive regulation of epithelial cell proliferation]
GO:0051146 [striated muscle cell differentiation]
GO:0051155 [positive regulation of striated muscle cell differentiation]
GO:0051781 [positive regulation of cell division]
GO:0060020 [Bergmann glial cell differentiation]
GO:0060021 [roof of mouth development]
GO:0060070 [canonical Wnt signaling pathway]
GO:0060173 [limb development]
GO:0060174 [limb bud formation]
GO:0060251 [regulation of glial cell proliferation]
GO:0060425 [lung morphogenesis]
GO:0060428 [lung epithelium development]
GO:0060438 [trachea development]
GO:0060439 [trachea morphogenesis]
GO:0060441 [epithelial tube branching involved in lung morphogenesis]
GO:0060442 [branching involved in prostate gland morphogenesis]
GO:0060445 [branching involved in salivary gland morphogenesis]
GO:0060447 [bud outgrowth involved in lung branching]
GO:0060458 [right lung development]
GO:0060459 [left lung development]
GO:0060463 [lung lobe morphogenesis]
GO:0060484 [lung-associated mesenchyme development]
GO:0060516 [primary prostatic bud elongation]
GO:0060523 [prostate epithelial cord elongation]
GO:0060662 [salivary gland cavitation]
GO:0060664 [epithelial cell proliferation involved in salivary gland morphogenesis]
GO:0060684 [epithelial-mesenchymal cell signaling]
GO:0060685 [regulation of prostatic bud formation]
GO:0060738 [epithelial-mesenchymal signaling involved in prostate gland development]
GO:0060767 [epithelial cell proliferation involved in prostate gland development]
GO:0060768 [regulation of epithelial cell proliferation involved in prostate gland development]
GO:0060769 [positive regulation of epithelial cell proliferation involved in prostate gland development]
GO:0060782 [regulation of mesenchymal cell proliferation involved in prostate gland development]
GO:0060783 [mesenchymal smoothened signaling pathway involved in prostate gland development]
GO:0060840 [artery development]
GO:0060916 [mesenchymal cell proliferation involved in lung development]
GO:0061053 [somite development]
GO:0061189 [positive regulation of sclerotome development]
GO:0062023 [collagen-containing extracellular matrix]
GO:0071285 [cellular response to lithium ion]
GO:0071542 [dopaminergic neuron differentiation]
GO:0071929 [alpha-tubulin acetylation]
GO:0072089 [stem cell proliferation]
GO:0072091 [regulation of stem cell proliferation]
GO:0072136 [metanephric mesenchymal cell proliferation involved in metanephros development]
GO:0072205 [metanephric collecting duct development]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0090162 [establishment of epithelial cell polarity]
GO:0090370 [negative regulation of cholesterol efflux]
GO:0097152 [mesenchymal cell apoptotic process]
GO:0097190 [apoptotic signaling pathway]
GO:0097264 [self proteolysis]
GO:0098528 [skeletal muscle fiber differentiation]
GO:0140853 [cholesterol-protein transferase activity]
GO:1900175 [regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry]
GO:1900180 [regulation of protein localization to nucleus]
GO:1904339 [negative regulation of dopaminergic neuron differentiation]
GO:1905327 [tracheoesophageal septum formation]
GO:2000062 [negative regulation of ureter smooth muscle cell differentiation]
GO:2000063 [positive regulation of ureter smooth muscle cell differentiation]
GO:2000357 [negative regulation of kidney smooth muscle cell differentiation]
GO:2000358 [positive regulation of kidney smooth muscle cell differentiation]
GO:2000729 [positive regulation of mesenchymal cell proliferation involved in ureter development]
GO:2001054 [negative regulation of mesenchymal cell apoptotic process]
Show all
 462 aa
49.6 kDa 		Yes 0
SHH-202
ENSP00000396621
ENST00000430104
C9JC48
[Direct mapping] Sonic hedgehog protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of eye
   Congenital malformations of the digestive system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005886 [plasma membrane]
GO:0006508 [proteolysis]
GO:0007267 [cell-cell signaling]
GO:0007275 [multicellular organism development]
GO:0008233 [peptidase activity]
GO:0016020 [membrane]
GO:0016787 [hydrolase activity]
GO:0046872 [metal ion binding]
Show all
 169 aa
18.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.


contact@proteinatlas.org