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: | JAK1 |
| Gene Name: | JAK1 |
| Protein Full Name: | Tyrosine-protein kinase JAK1 |
| Alias: | EC 2.7.10.2; JAK1A; Janus kinase 1 |
| Mass (Da): | 133277 |
| Number AA: | 1154 |
| UniProt ID: | P23458; Q4LDX3 |
| Locus ID: | 3716 |
| COSMIC ID: | JAK1 |
| Gene location on chromosome: | 1p31.3 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 25200 |
| Percent of cancer specimens with mutations: | 1.15 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, 4 deletions, 3 insertions and 1 complex mutation across the entire protein. AA 658 and AA 724 show slightly higher rates of point mutation than other sites. |
| Commonly recorded point mutations: | R724H (8); V658F (6) |
| Normal role description: | JAK1 is a protein-tyrosine kinase. |
| Commentary on involvement of protein in cancer: | V658 and R724 are located in the first kinase catalytic domain. V658 is located after subdomain IV in an insert region. R724 is located after subdomain VI just before an insert region. |