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: | TSC1 |
| Gene Name: | TSC1 |
| Protein Full Name: | Hamartin |
| Alias: | KIAA0243; LAM; TSC; Tuberous sclerosis 1; Tuberous sclerosis 1 gene; Tuberous sclerosis 1 protein; Tuberous sclerosis 1 protein homolog |
| Mass (Da): | 129767 |
| Number AA: | 1164 |
| UniProt ID: | Q92574; Q59IT9 |
| Locus ID: | 7248 |
| COSMIC ID: | TSC1 |
| Gene location on chromosome: | 9q34 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 21333 |
| Percent of cancer specimens with mutations: | 1.2 |
| Mutations observed as inherited: | Tuberous sclerosis 1. |
| Normal role description: | TSC1 is a growth inhibitory protein thought to play a role in the stabilization of tuberin. It forms a complex with TSC2 protein, and inhibits signalling to downstream effectors of mTOR. It is thought to be a tumour suppressor protein, and mutations of the gene have been associated with tuberous sclerosis. |
| Commentary on involvement of protein in cancer: | 2/219 breast-, 3/524 CNS-, 1/125 hematopoeitic-, 4/474 lung-, 1/50 skin-, and 2 laryngeal samples/24 total UAT samples (non-sense and silent mutations) were also mutated (Sanger COSMIC) |