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: | MADD |
| Gene Name: | MADD |
| Protein Full Name: | MAP kinase-activating death domain protein |
| Alias: | DENN; Differentially expressed in normal and neoplastic cells; Insulinoma glucagonoma clone 20; Insulinoma-glucagonoma clone 20; KIAA0358; MAP-kinase activating death domain; Rab3 GDP/GTP exchange factor; RAB3GEP |
| Mass (Da): | 183303 |
| Number AA: | 1647 |
| UniProt ID: | Q8WXG6 |
| Locus ID: | 8567 |
| COSMIC ID: | MADD |
| Gene location on chromosome: | 11p11.2 |
| Cancer protein type: | OP/TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | MIXED |
| Number of cancer specimens: | 19743 |
| Percent of cancer specimens with mutations: | 1.39 |
| Normal role description: | MADD is an adapter protein which associates with ligand bound tumour necrosis factor alpha receptor 1 (TNFR1) to amplify the receptor signal. MADD is involved in relaying pro-apoptotic signals to activate MAPK and induce caspase-mediated apoptosis. Seven alternatively spliced isoforms of MADD have been identified with varying function in the cell. Cancer cells expressing isoform 1 were found to promote TNF-alpha mediated apoptosis while cells expressing isoform 5 were resistant to apoptosis and chemotherapeutic. MADD role in cancer appears to be isoform specific. |
| Commentary on involvement of protein in cancer: | Less than 3% mutation in CNS. |