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: | SMAD3 |
| Gene Name: | SMAD3 |
| Protein Full Name: | Mothers against decapentaplegic homolog 3 |
| Alias: | SMAD 3 |
| Mass (Da): | 48081 |
| Number AA: | 425 |
| UniProt ID: | P84022 |
| Locus ID: | 4088 |
| COSMIC ID: | SMAD3 |
| Gene location on chromosome: | 15q22.33 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20024 |
| Percent of cancer specimens with mutations: | 0.6 |
| Normal role description: | SMAD3 is an intracellular signal transducer and transcriptional modulator activated by TGF-β and activin type 1 receptor kinases. It binds the TRE element in the promoter region of many genes that are regulated by TGF-β and, on formation of the SMAD3/SMAD4 complex, activates transcription. It can also form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-β-mediated transcription. The protein has an inhibitory effect on wound healing, possibly by modulating growth and migration of keratinocytes, and by altering the TGF-mediated chemotaxis of monocytes. Defects in the gene are the cause of Loeys-Dietz syndrome type 1C (LDS1C), an aortic aneurysm syndrome with widespread systemic involvement; and may also be implicated in the development of colorectal cancers. |