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: | FEN1 |
Gene Name: | FEN1 |
Protein Full Name: | Flap endonuclease 1 |
Alias: | DNase IV; EC 3.1.-.-; FEN-1; Flap endonuclease-1; Flap structure-specific endonuclease 1; Maturation factor 1; Maturation factor-1; MF1; RAD2 |
Mass (Da): | 42593 |
Number AA: | 380 |
UniProt ID: | P39748 |
Locus ID: | 2237 |
COSMIC ID: | FEN1 |
Gene location on chromosome: | 11q12.2 |
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: | 0.15 |
Mutations observed as inherited: | increased risk of lung cancer (two polymorphisms: c.69G>A (rs174538:G>A) in the promoter region and c.4150G>T (rs4246215:G>T) in the 3'-UTR of the transcript |
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: | FEN1 is nuclease involved in DNA replication and repair. It has both endonuclease and exonuclease activity. It is involved in the long patch base excision repair pathway, and also functions to prevent duplications and deletions. FEN1 also plays a role in the telomere stability. Two polymorphisms have been associated with increased risk of lung cancer. |