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: | ERCC4 |
| Gene Name: | ERCC4 |
| Protein Full Name: | DNA repair endonuclease XPF |
| Alias: | DNA excision repair protein ERCC-4; DNA repair protein complementing XP-F cells; Excision repair cross-complementing rodent repair deficiency, complementation group 4; RAD1; Xeroderma pigmentosum group F-complementing protein; Xeroderma pigmentosum, complementation group F; XPF |
| Mass (Da): | 104486 |
| Number AA: | 916 |
| UniProt ID: | Q92889 |
| Locus ID: | 2072 |
| COSMIC ID: | ERCC4 |
| Gene location on chromosome: | 16p13.3–p13.13 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20323 |
| Percent of cancer specimens with mutations: | 0.77 |
| Mutations observed as inherited: | Xeroderma pigmentosum (XP). |
| Normal role description: | DNA repair helicase, nucleotide excision repair. The XPF protein and the ERCC1 protein form a complex that exhibits structure specific endonuclease activity that is responsible for the 5' incision during the NER reaction. Autosomal recessive defects cause xeroderma pigmentosa which is a hypersensitivity of skin to sunlight and high risk for skin cancer. Given its role in DNA repair and autosomal recessive inheritence, ERCC4 appears to function as a TSP. |