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: | CARD11 |
| Gene Name: | CARD11 |
| Protein Full Name: | Caspase recruitment domain-containing protein 11 |
| Alias: | Bcl10-interacting maguk protein 3; BIMP3; CAR11; CARD-containing MAGUK protein 1; CARD-containing MAGUK protein 3; Card-maguk protein 1; Carma 1; CARMA1; Caspase recruitment domain family, member 11 |
| Mass (Da): | 133284 |
| Number AA: | 1154 |
| UniProt ID: | Q9BXL7 |
| Locus ID: | 84433 |
| COSMIC ID: | CARD11 |
| Gene location on chromosome: | 7p22 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 21408 |
| Percent of cancer specimens with mutations: | 2.51 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, 2 deletions, 2 insertions and 2 complex mutations across the entire protein, but mostly in the N-terminal half. |
| Normal role description: | Participates in apoptosis signalling through highly specific protein-protein homophilic interactions. CARD11 indirectly activates nuclear factor kappa-B, which is a transcription factor that has a pro-growth/anti-apopotic affects, so CARD11 might be considered an oncogene if mutations were to increase its activity. |
| Commentary on involvement of protein in cancer: | Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10. Detected in adult peripheral blood leukocytes, thymus, spleen and liver. Also found in promyelocytic leukemia HL-60 cells, chronic myelogenous leukemia K562 cells, Burkitt's lymphoma Raji cells and colorectal adenocarcinoma SW480 cells. Not detected in HeLa S3, Molt-4, A549 and G431 cells. Most mutations are located between AA 208-259. This region is located within a coil-coiled region of unknown function. |