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: | Daxx |
| Gene Name: | DAXX |
| Protein Full Name: | Death domain-associated protein 6 |
| Alias: | BING2; DAP6; Death-domain associated protein; EAP1; ETS1 associated protein 1; Fas DEATH domain- associated protein |
| Mass (Da): | 81373 |
| Number AA: | 740 |
| UniProt ID: | Q9UER7 |
| Locus ID: | 1616 |
| COSMIC ID: | DAXX |
| Gene location on chromosome: | 6p21.32 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 21136 |
| Percent of cancer specimens with mutations: | 0.84 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations and deletions, and 1 insertion across entire protein, but no complex mutations. |
| Normal role description: | DAXX interacts with a great variety of proteins: in the nucleus DAXX acts as a transcriptional repressor, in the cyctoplasm it is involved in regulation of apoptosis. Induces Fas-mediated cell death through interaction with Fas. Enhances E3 ligase activity of MDM2 towards TP53, and promotes TP53 ubiquitination and degradation under non-stress conditions. Involved in regulation of SUMO-dependent transcriptional control. Suggested to activate JNK pathway and apoptosis via MAP3K5. Represses cell death in the early embryo. It is a component of the PML (Promyelocytic leukemia protein) nuclear bodies and suggested to promote development of acute leukemia. |