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: | TOPBP1 |
| Gene Name: | TOPBP1 |
| Protein Full Name: | DNA topoisomerase 2-binding protein 1 |
| Alias: | DNA topoisomerase II beta-bindin; DNA topoisomerase II binding protein 1; DNA topoisomerase IIbeta-binding protein 1; DNA topoisomerase II-binding protein 1; KIAA0259; TOP2BP1; TOPB1; Topoisomerase (DNA) II binding protein 1 |
| Mass (Da): | 170679 |
| Number AA: | 1522 |
| UniProt ID: | Q92547 |
| Locus ID: | 11073 |
| COSMIC ID: | TOPBP1 |
| Gene location on chromosome: | 3q22.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20116 |
| Percent of cancer specimens with mutations: | 0.86 |
| Normal role description: | TOPBP1 encodes a binding protein which interacts with the C-terminal region of topoisomerase II β, suggesting a supportive role for the protein in the catalytic reactions of topoisomerase II β through transient breakages of DNA strands. It plays a role in the rescue of stalled replication forks and checkpoint control, and binds dsDNA breaks and nicks as well as ssDNA. It recruits the SWI/SNF chromatin remodelling complex to E2F1-responsive promoters, and down-regulates E2F1 activity and inhibits E2F1-dependent apoptosis during G1/S transition and after DNA damage. Overexpression of TopBP1 in breast tumours has been demonstrated to inhibit p53 target gene expression, DNA damage-induced apoptosis and G1 arrest. |
| Commentary on involvement of protein in cancer: | 2/412 kidney samples were also mutated (Sanger COSMIC) |