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: | ADAMTS1 |
| Gene Name: | ADAMTS1 |
| Protein Full Name: | A disintegrin and metalloproteinase with thrombosp |
| Alias: | A disintegrin and metalloproteinase with thrombospondin motifs 1; A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1; ADAM metallopeptidase with thrombospondin type 1 motif, 1; ADAM-TS 1; ADAM-TS1; ADAMTS-1; ATS1; C3-C5; KIAA1346; METH1; METH-1 |
| Mass (Da): | 105360 |
| Number AA: | 967 |
| UniProt ID: | Q9UHI8 |
| Locus ID: | 9510 |
| COSMIC ID: | ADAMTS1 |
| Gene location on chromosome: | 21q21.3 |
| Cancer protein type: | OP/TSP |
| Effect of cancer mutation on protein: | BOTH |
| Effect of active protein on cancer: | MIXED |
| Number of cancer specimens: | 19762 |
| Percent of cancer specimens with mutations: | 1.03 |
| Gene undergoes hypermethylation: | Yes; Colorectal cancers (85%), Adenomas (37%), Carcinomas (71%) |
| Normal role description: | ADAMTS1 is a secreted zinc metallopeptidase found highly expressed in the extracellular matrix of adrenal, heart, placenta and skeletal muscle. It's primary substrates are proteoglycans including aggecan and versican. Aberrant expression of ADAMTS1 has been implicated in the development of cancer. Downregulation of ADAMTS1 by gene methylation was found in lung, colorectal and prostate tumours. While in more metastatic and invasive tumours ADAMTS1 is overexpressed. |
| Commentary on involvement of protein in cancer: | COSMIC indetified only 2 mis-sense mutation for Ovary carcinomas. A mis-sense mutation was observed in CNS. |