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: | SMARCA4 |
| Gene Name: | SMARCA4 |
| Protein Full Name: | Transcription activator BRG1 |
| Alias: | Brahma 1; BRG1; BRG-1; EC 3.6.1.-; Global transcription activator SNF2L4; SMCA4; SN24; SNF2B; SNF2-beta; SNF2L4 |
| Mass (Da): | 184646 |
| Number AA: | 1647 |
| UniProt ID: | P51532 |
| Locus ID: | 6597 |
| COSMIC ID: | SMARCA4 |
| Gene location on chromosome: | 19p13.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 21121 |
| Percent of cancer specimens with mutations: | 2.75 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations and deletions, but no insertions and only 1 complex mutations across the entire protein. |
| Normal role description: | SMARCA4 harbours the ATPase activity required for the chromatin remodelling activity of the SWI/SNF complex. SMARCA4 binds to or it is related to important tumour suppressor proteins, including BRCA2, LKB1, RB and FANCA. SMARCA4 is a clearly demonstrated TSP given its re-introduction to defficient cancer cells in vitro induces cell-cyle arrest. Moreover, SMARCA4-defficient cells demonstrate a prediliction towards oncogenesis. Protein is frequently mutated in cancer - particularly lung cancer - and these mutations almost always cause loss of function supporting the role of SMARCA4 as a TSP. |