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: | PTCH1 |
| Gene Name: | PTCH1 |
| Protein Full Name: | Protein patched homolog 1 |
| Alias: | BCNS; Homolog of Drosophila Patched gene; HPE7; NBCCS; patched 1; PTC; PTC1; PTCH |
| Mass (Da): | 160540 |
| Number AA: | 1447 |
| UniProt ID: | Q13635; A3KBF6 |
| Locus ID: | 5727 |
| COSMIC ID: | PTCH1 |
| Gene location on chromosome: | 9q22.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 22720 |
| Percent of cancer specimens with mutations: | 3.47 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, complex mutations, insertions and deletions over entire protein length. |
| Mutations observed as inherited: | Gorlin Syndrome: Nevoid basal cell carcinoma syndrome (NBCCS) (30%) (199/653) |
| Normal role description: | PTCH1 is a transmembrane receptor for sonic hedgehog (shh), indian hedgehog (IHH) and desert hedgehog (DHH), that associates with the smoothened protein (SMO). It is involved in the formation of embryonic structures and in tumorigenesis. It functions as a tumour suppressor, and mutations of the gene have been associated with the development of a number of malignancies such as Gorlin syndrome, esophageal- and bladder cancer, and trichoepitheliomas, as well as with holoprosencephaly type 7, a common structural anomaly of the brain. |
| Commentary on involvement of protein in cancer: | The following samples were also mutated: 60 medulloblastomas/997 total CNS tumours (14 frameshift deletions, 2 inframe deletions, 21 frameshift insertions, 1 inframe insertion, 7 non-sense, 11 mis-sense, 2 complex frameshifts, 1 complex inframe insertion, 2 intronic substitution; 1 intronic deletions; and 2 intronic insertions); 4/271 of breast tumours; 6/480 lung tumours; 1/4 (25%) of vulvar cancers (mis-sense); 21/159 (13%) of mandible odontogenic keratocysts are also mutated (7 frameshift deletions, 6 frameshift insertions, 2 inframe insertions, 3 non-sense, 7 mis-sense, and 1 silent mutation); and (30%) (199/653) basal cell carcinomas (2 frameshift deletions, 3 inframe deletions, 11 frameshift insertions, 68 non-sense, 69 mis-sense, 8 silent, 2 complex frameshifts, 2 complex compound substitutions, 1 complex inframe deletion, and 36 'other'mutations (incl. unknown mutations, intronic substitutions and deletions, and complex intronic mutations) (Sanger COSMIC) |