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: | COL7A1 |
| Gene Name: | COL7A1 |
| Protein Full Name: | Collagen alpha-1(VII) chain |
| Alias: | Long-chain collagen |
| Mass (Da): | 295220 |
| Number AA: | 2944 |
| UniProt ID: | Q02388 |
| Locus ID: | 1294 |
| COSMIC ID: | COL7A1 |
| Gene location on chromosome: | 3p21.1 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19688 |
| Percent of cancer specimens with mutations: | 2.62 |
| Mutations observed as inherited: | NA |
| 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: | COL7A1 forms anchoring fibrils between the epithelium and the underlying stroma in the stratified squamous epithelial basement membrane and contributes to its organization and adherence via interactions with extracellular matrix proteins such as type IV collagen. T119P, P1364T, and R1366W mutations have been associated with breast cancer samples, while a G2079R mutation has been associated with a squamous cell carcinoma sample. Most malignant tissues were COL7A1 negative or weak in expression in antibody staining experiments. However, a substructure in COL7A1, the NH2-terminal noncollagenous domain, was shown to promote squamous cell carcinoma. |