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: | GATA1 |
| Gene Name: | GATA1 |
| Protein Full Name: | Erythroid transcription factor |
| Alias: | Eryf1; GAT1; GATA binding protein 1; GATA binding protein 1 (globin transcription factor 1); GF1; GF-1; Globin transcription factor 1; NFE1; NF-E1 |
| Mass (Da): | 42751 |
| Number AA: | 413 |
| UniProt ID: | P15976 |
| Locus ID: | 2623 |
| COSMIC ID: | GATA1 |
| Gene location on chromosome: | Xp11.23 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 22610 |
| Percent of cancer specimens with mutations: | 1.69 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Many point mutations, deletions and mutations that are broadly distributed within the first 70 amino acids at the N-terminus. |
| Normal role description: | GATA1 is a transcription regulator of genes involved in erythroid and megakaryoctic development. It also plays a role in switching fetal hemoglobin to adult hemoglobin. Mutations lead to blocking megakaryoctic differentiation and promotes megakaryoblast proliferation and oncogenesis. |