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: | COL1A1 |
Gene Name: | COL1A1 |
Protein Full Name: | Collagen alpha-1(I) chain |
Alias: | Alpha-1 type I collagen |
Mass (Da): | 138911 |
Number AA: | 1464 |
UniProt ID: | P02452 |
Locus ID: | 1277 |
COSMIC ID: | COL1A1 |
Gene location on chromosome: | 17q21.31-q22 |
Cancer protein type: | UNCLEAR |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | UNCLEAR |
Number of cancer specimens: | 20327 |
Percent of cancer specimens with mutations: | 1.36 |
Deregulated in translocations: | A chromosomal aberration involving COL1A1 is found in dermatofibrosarcoma protuberans. Translocation t(17;22)(q22;q13) with PDGF |
Normal role description: | Cell adhesion. Type I collagen is a member of group I collagen (fibrillar forming collagen). |