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: | BBC3 |
| Gene Name: | BBC3 |
| Protein Full Name: | Bcl-2-binding component 3 |
| Alias: | JFY-1;p53 up-regulated modulator of apoptosis |
| Mass (Da): | 20532 |
| Number AA: | 193 |
| UniProt ID: | Q9BXH1 |
| Locus ID: | 27113 |
| COSMIC ID: | BBC3 |
| Gene location on chromosome: | 19q13.3-q13.4 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20150 |
| Percent of cancer specimens with mutations: | 0.06 |
| Normal role description: | BBC3 is a member of the BCL-2 family and an essential mediator of p53-dependent and independent apoptosis. Upon activation by p53 or in response to ER stress, BBC3 induce apoptosis via binding to BCL-2 and induction of cytochrome c release from the mitochondria. Furthermore, it also functions to induce BAX conformational change and multimerization. |
| Commentary on involvement of protein in cancer: | No information available on mutations of BBC3 in cancer, but the fact that it is a pro-apoptotic gene, would indicate that it functions as a tumour suppressor and that it would be downregulated in cancers. |