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: | ERCC1 |
| Gene Name: | ERCC1 |
| Protein Full Name: | DNA excision repair protein ERCC-1 |
| Mass (Da): | 32562 |
| Number AA: | 297 |
| UniProt ID: | Q8WWH8 |
| Locus ID: | 2067 |
| COSMIC ID: | ERCC1 |
| Gene location on chromosome: | 19q13.32 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 20297 |
| Percent of cancer specimens with mutations: | 0.24 |
| Mutations observed as inherited: | homozygous carriers of the haplotype ERCC1 Asn118AsnA, ASE-1 G-21AG, PPP1R13L IVS1 A4364GA have been shown to have increased risk of breast and lung cancer |
| 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: | ERCC1 is a DNA repair protein that functions in the nucleotide excision repair pathway that repairs damage caused by UV light or electrophilic compounds (e.g. cisplatin). It is a component of the XPF endonuclease that catalyzes the 5' incision in the excision process. It may also be involved in recombinant DNA repair and interstrand crosslink repair. Polymorphisms that alter the expression of this gene may play a role in oncogenesis. |