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: | NF1 |
| Gene Name: | NF1 |
| Protein Full Name: | Neurofibromin |
| Alias: | Neurofibromatosis; Neurofibromatosis-related protein NF-1; Neurofibromin 1; Neurofibromin truncated; Von Recklinghausen disease; Watson disease |
| Mass (Da): | 319372 |
| Number AA: | 2839 |
| UniProt ID: | P21359 |
| Locus ID: | 4763 |
| COSMIC ID: | NF1 |
| Gene location on chromosome: | 17q11.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 24720 |
| Percent of cancer specimens with mutations: | 4.91 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, a few complex mutations and insertions, and many deletions over entire protein length. |
| Mutations observed as inherited: | Neurofibromatosis type 1. Nerve tumors (including brain). |
| Normal role description: | Ras-GAP that catalyses RAS inactivation, cell differentiation, cell division, developmental processes. |