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: | UBR5 |
| Gene Name: | UBR5 |
| Protein Full Name: | E3 ubiquitin-protein ligase UBR5 |
| Alias: | 100 kDa protein; DD5; E3 ubiquitin-protein ligase, HECT domain-containing 1; EDD; EDD1; HHYD; Hyperplastic discs protein homolog; KIAA0896; Progestin-induced protein; Ubiquitin protein ligase E3 component n-recognin 5; Ubiquitin--protein ligase EDD |
| Mass (Da): | 309352 |
| Number AA: | 2799 |
| UniProt ID: | O95071 |
| Locus ID: | 51366 |
| COSMIC ID: | UBR5 |
| Gene location on chromosome: | 8q22.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 21069 |
| Percent of cancer specimens with mutations: | 2.43 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations across entire protein as well as 1 deletions, but no complex mutations or insertions. |
| 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: | UBR5 is an E3 ubiquitin-protein ligase which recognizes and binds to proteins with specific amino-terminal residues leading to their ubiquination and degradation. It is also involved in the transcriptional regulation of mRNA by activating CDK9 and may have a role in cell cycle arrest. |