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: | Gab1 |
| Gene Name: | GAB1 |
| Protein Full Name: | GRB2-associated-binding protein 1 |
| Alias: | GRB2-associated binder 1; GRB2-associated binding protein 1; Growth factor receptor bound protein 2-associated protein 1 |
| Mass (Da): | 76616 |
| Number AA: | 694 |
| UniProt ID: | Q13480 |
| Locus ID: | 2549 |
| COSMIC ID: | GAB1 |
| Gene location on chromosome: | 4q31.21 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20313 |
| Percent of cancer specimens with mutations: | 0.58 |
| 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: | GAB1 is an adapter protein that is involved in receptor tyrosine kinase signalling, notably FGFR1 signalling. It may also be involved in EGFR and insulin receptor signalling. It plays a role in cellular growth response, transformation and apoptosis. Y83C and T387N mutations have been implicated in breast cancer samples. |