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: | ADD3 |
| Gene Name: | ADD3 |
| Protein Full Name: | ISOFORM 2 OF GAMMA-ADDUCIN. |
| Alias: | ADDG; ADDL; adducin 3 (gamma); adducin, gamma; adducin-like protein 70; gamma adducin; protein kinase C binding protein 35H |
| Mass (Da): | 79155 |
| Number AA: | 706 |
| UniProt ID: | Q9UEY8 |
| Locus ID: | 120 |
| COSMIC ID: | ADD3 |
| Gene location on chromosome: | 10q25.1-q25.2 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19688 |
| Percent of cancer specimens with mutations: | 0.7 |
| Deregulated in translocations: | NUP98-ADD3 fusion of t(10;11)(q25;p15) on chromosome 11p15 has been implicated in T-cell acute lymphoid leukemia |
| Normal role description: | Adducin3 gamma is one of 3 subunits (alpha, beta, gamma) that code for a heterotrimeric protein. ADD3 is ubiquitously expressed and is involved in the assembly of spectrin-actin networks in red blood cells and is found at sites of cell-to-cell contact in epithelial tissues. Its C-terminal contains a calmodulin-binding site. It is a member of the membrane skeletal protein family and of the Myristoylated alanine-rich C kinase substrate protein family, which plays a role in signal transduction and cell migration. Translocation of the gene with NUP98 is seen in T-cell acute lymphoid leukemia. |
| Commentary on involvement of protein in cancer: | Only 1 melanoma and 2 ovary unique samples were analyzed in Sanger COSMIC . |