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: | DDB1 |
| Gene Name: | DDB1 |
| Protein Full Name: | DNA damage-binding protein 1 |
| Alias: | Damage-specific DNA binding protein 1, 127kDa; DDB p127 subunit; DDBa; DNA damage binding protein 1; UV-damaged DNA-binding protein 1; UV-DDB 1; X- associated protein 1; XAP-1; Xeroderma pigmentosum group E complementing protein; XPCe; XPE |
| Mass (Da): | 126968 |
| Number AA: | 1140 |
| UniProt ID: | Q16531 |
| Locus ID: | 1642 |
| COSMIC ID: | DDB1 |
| Gene location on chromosome: | 11q12-q13 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20238 |
| Percent of cancer specimens with mutations: | 0.86 |
| Normal role description: | DDB1 encodes for the large subunit of the UV-DDB complex, which is crucial in nucleotide excision repair. This complex recognizes and binds to DNA-damage sites. Suggested to be a component of E3 ubiquitin-protein ligase complexes and to ubiquitinate histones, thereby facilitating DNA repair. May be involved in ubiquitination of TP53. Disfunctional UV-DDB is associated with xeroderma pigmentosum complementation group E. However it remains to be shown, whether mutations in the large or the small subunit cause the defect. |