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: | TOP1 |
| Gene Name: | TOP1 |
| Protein Full Name: | DNA topoisomerase 1 |
| Alias: | DNA topoisomerase I; topoisomerase (DNA) I |
| Mass (Da): | 90726 |
| Number AA: | 765 |
| UniProt ID: | P11387 |
| Locus ID: | 7150 |
| COSMIC ID: | TOP1 |
| Gene location on chromosome: | 20q12-q13.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20416 |
| Percent of cancer specimens with mutations: | 0.55 |
| Deregulated in translocations: | t(11;20)(p15;q12)--> NUP98/TOP1 fusion protein. This translocation can result in: de novo acute myeloid leukemia, acute monocytic leukemia, and therapy-related myelodysplastic syndrome/leukemia(t-MDS/AML). |
| Normal role description: | TOP1 is a topoisomerase -- an enzyme that releases the DNA supercoiling and torsion that occurs during DNA replication and transcription by cleaving and rejoining one strand of the DNA duplex. De novo acute myeloid leukemia, acute monocytic leukemia, and therapy-related myelodysplastic syndrome/leukemia(t-MDS/AML) are associated with translocation of this gene. |