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: | SAV1 |
| Gene Name: | SAV1 |
| Protein Full Name: | Protein salvador homolog 1 |
| Alias: | 45 kDa WW domain protein; Salvador; Salvador 1; SAV; WW45; WWP4 |
| Mass (Da): | 44634 |
| Number AA: | 383 |
| UniProt ID: | Q9H4B6 |
| Locus ID: | 60485 |
| COSMIC ID: | SAV1 |
| Gene location on chromosome: | 14q13-q23 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 20149 |
| Percent of cancer specimens with mutations: | 0.23 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | SAV1 is a regulator of the Hippo signalling pathway, implicated in organ size control and tumour suppression by inhibiting proliferation and promoting apoptosis. The signalling pathway involves phosphorylation and inactivation of YAP1 to prevent it from transcribing genes associated with cell proliferation and migration. SAV1 also promotes epithelial cell differentiation. |