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: | ABL1 |
| Gene Name: | ABL1 |
| Protein Full Name: | Tyrosine-protein kinase ABL1 |
| Alias: | Abelson murine leukemia viral oncogene 1; ABL1; C-ABL; EC 2.7.10.2; JTK7; P150; V-abl Abelson murine leukemia viral oncogene 1 |
| Mass (Da): | 122873 |
| Number AA: | 1130 |
| UniProt ID: | P00519, Q13688, Q13914, Q59FK4 |
| Locus ID: | 25 |
| COSMIC ID: | ABL1 |
| Gene location on chromosome: | 9q34.1 |
| Cancer protein type: | OP/TSP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES (wild-type likely inhibits) |
| Number of cancer specimens: | 29340 |
| Percent of cancer specimens with mutations: | 5.06 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations but only 2 insertions and 1deletion. There is 1 main cluster, which includes the deletion, and 2 smaller clusters. |
| Commonly recorded point mutations: | T315I (294); G250E (112); |
| Deregulated in translocations: | t(9;22)(q34;q11); t(9;12)(q34;p12) |
| Transduced into viral genome: | Abelson murine leukemia virus - Mouse |
| Normal role description: | ABL1 is a protein-tyrosine kinase. BCR-ABL fusion protein results in constitively active protein kinase activity by inhibiting 3BP1/ABL interaction. BCR-ABL induces the Ras, PI3K, and myc cell proliferation pathways. |
| Commentary on involvement of protein in cancer: | Mutations are located within the kinase catalytic domain. T315 is near subdomain III. E255 is located just after subdomain. |