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| The Chromosome 7 Annotation Project |
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| Gene / Transcript Structure |
| General information |
| Class | Known_Gene |
| TCAG Gene ID | GA0281 [Old ID: HSC7000281] |
| Gene Symbol | SHH [HUGO ID: SHH] |
| Gene Name | Sonic hedgehog homolog (Drosophila) |
| Synonyms | HHG1, HLP3, HPE3, SMMCI |
| Summary | Summary: This gene, which is expressed only during embryogenesis, 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. In addition, it is 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. |
| Omim | Sonic hedgehog | 600725 |
| Phenotype | Coloboma, ocular [120200] Holoprosencephaly-3 [142945] Solitary median maxillary central incisor [147250] |
| Gene Ontology | ●Biological process Cell-cell signaling [GO:0007267] Development [GO:0007275] Intein-mediated protein splicing [GO:0016539] Mesoderm cell fate determination [GO:0007500] Proteolysis and peptidolysis [GO:0006508] Ventral midline development [GO:0007418] ●Molecular function Peptidase activity [GO:0008233] |
| Transcript | SHH | T00247 | L38518.1 |
| External links |
| LocusLink | 6469 |
| RefSeq | NM_000193 | NP_000184 |
| GenBank | AB020410 [genome] AC002484 [genome] L38518 [mRNA] |
| PubMed | 15128061, 14733907, 14691301, 14520413, 14520411, 12926841, 12917489, 12783258, 12773389, 12709790, 12632368, 12629553, 12547712, 12533514, 12495844, 12421920, 12394760, 11983699, 11857543, 11359461, 11175816, 10441331, 9593755, 9115210, 8896572, 8269518, 7590746, 2309771, 2241084, 1897576 |
| ABI Gene Expression "Assays-on-Demand™" | Hs00179843_m1 |
| Affymetrix GeneChip | U133A U95A|31724_at |
| Transcript Sequence(s) |
Note: Some data originated from NCBI's LocusLink.