Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | SHH |
| Gene Name: | SHH |
| Protein Full Name: | Sonic hedgehog protein |
| Alias: | HHG-1 |
| Mass (Da): | 49607 |
| Number AA: | 462 |
| UniProt ID: | Q15465 |
| Locus ID: | 6469 |
| COSMIC ID: | SHH |
| Gene location on chromosome: | 7q36 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20245 |
| Percent of cancer specimens with mutations: | 0.36 |
| Normal role description: | SHH is instrumental in patterning the early embryo, and has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity; the C-terminal portion is involved in precursor processing, and 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 SHH or its signalling pathway are a cause of holoprosencephaly, and mutations of the gene may be involved in the development of VACTERL syndrome. It has also been implicated in a range of other syndromes, such as Ocular coloboma, Microphthalmia with coloboma, Schizencephaly and in Single median maxillary central incisor. It has not to date been implicated in cancer development. |
| Commentary on involvement of protein in cancer: | 1/1 (100%) pharyngeal sample was mutated (silent); 3/468 CNS-, and 1/322 lung cancer samples were also mutated |