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: | APEX1 |
| Gene Name: | APEX1 |
| Protein Full Name: | DNA-(apurinic or apyrimidinic site) lyase |
| Alias: | AP endonuclease 1; APE; APE1; APE-1; APEN; APEX; APEX nuclease; APEX nuclease (multifunctional DNA repair enzyme) 1; APX; EC 4.2.99.18; HAP1; REF1; REF-1; REF-1 protein |
| Mass (Da): | 35423 |
| Number AA: | 318 |
| UniProt ID: | P27695 |
| Locus ID: | 328 |
| COSMIC ID: | APEX1 |
| Gene location on chromosome: | 14q11.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 20150 |
| Percent of cancer specimens with mutations: | 0.16 |
| Mutations observed as inherited: | Certain polymorphisms lead to decreased DNA activity |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | APEX1 is an apurinic/apyrimidinic endodeoxyribonuclease in the DNA base excision repair system. It assists in the repair of oxidative and alkylative damage by generating a single strand break surrounding the site of damage. It may also have a role in DNA demethylation and epigenetic regulation of gene expression. APEX1 can exert reversible redox activity on transcriptional activators such as FOS/JUN AP-1 complex to regulate DNA binding affinity. It can also downregulate expression by directly binding to DNA and inhibiting access by transcriptional activators, as in calcium-dependent downregulation of parathyroid hormone, or also enhance promoter activities as in YBX-1-mediated MDR1 promoter activity. |