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: | JAK3 |
| Gene Name: | JAK3 |
| Protein Full Name: | Tyrosine-protein kinase JAK3 |
| Alias: | EC 2.7.10.2; JAK-3; JAK3_HUMAN; JAKL; Janus kinase 3; Kinase Jak3; Leukocyte janus kinase; LJAK; L-JAK |
| Mass (Da): | 125099 |
| Number AA: | 1124 |
| UniProt ID: | P52333 |
| Locus ID: | 3718 |
| COSMIC ID: | JAK3 |
| Gene location on chromosome: | 19p13.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 25047 |
| Percent of cancer specimens with mutations: | 1.47 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, but only 1 deletion, no insertions and no complex mutations across the entire protein. Point mutations at AA 501, 572 and 657 are slightly higher than other sites. |
| Commonly recorded point mutations: | A572V (26); A657Q (23); |
| Normal role description: | JAK3 is a protein-tyrosine kinase and it is involved in cytokine receptor-mediated intracellular signal transduction, including activation of an oncoprotein, PI3K. Mutations in this gene have been found in blood, mouth, and ovarian cancers. |
| Commentary on involvement of protein in cancer: | A572 is located in the first kinase catalytic domain near subdomain III. |