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: | XPA |
| Gene Name: | XPA |
| Protein Full Name: | DNA repair protein complementing XP-A cells |
| Alias: | Xeroderma pigmentosum group A-complementing protein |
| Mass (Da): | 31368 |
| Number AA: | 273 |
| UniProt ID: | P23025 |
| Locus ID: | 7507 |
| COSMIC ID: | XPA |
| Gene location on chromosome: | 9q22.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 20322 |
| Percent of cancer specimens with mutations: | 0.21 |
| Mutations observed as inherited: | Xeroderma pigmentosum (XP), early development of skin/internal cancers |
| 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: | XPA is a DNA repair protein involved in nucleotide excision repair. It binds to cyclobutane pyrimidine dimers at damaged sites induced by UV radiation or chemical carcinogens and assists in the recruitment of CEP164, a protein involved in the excision repair complex, as well as excision activity. It is also required for UV-induced CHEK1 phosphorylation and cell cycle arrest. Defects in the protein is associated with a predisposition to developing xeroderma pigmentosum and skin and internal cancers early. |