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: | KEAP1 |
| Gene Name: | KEAP1 |
| Protein Full Name: | Kelch-like ECH-associated protein 1 |
| Alias: | Cytosolic inhibitor of Nrf2; INrf2; Kelch-like protein 19 |
| Mass (Da): | 69666 |
| Number AA: | 624 |
| UniProt ID: | Q14145 |
| Locus ID: | 9817 |
| COSMIC ID: | KEAP1 |
| 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: | 20478 |
| Percent of cancer specimens with mutations: | 1.25 |
| Normal role description: | Retains NFE2L2/NRF2 in the cytosol. Functions as substrate adapter protein for the E3 ubiquitin ligase complex formed by CUL3 and RBX1. Targets NFE2L2/NRF2 for ubiquitination and degradation by the proteasome, thus resulting in the suppression of its transcriptional activity and the repression of antioxidant response element-mediated detoxifying enzyme gene expression. May also retain BPTranscription protein in the cytosol. Targets PGAM5 for ubiquitination and degradation by the proteasome. Reduced expression or reduced activity resulting from mutations lead to upregulation of cytoprotective genes (drug resistance pumps) that provides a growth advantage to cancer cells. |