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: | Dicer1 |
| Gene Name: | DICER1 |
| Protein Full Name: | Endoribonuclease Dicer |
| Alias: | DICER; Dicer 1, double-stranded RNA-specific endoribonuclease; Dicer 1, ribonuclease type III; Helicase with RNase motif; Helicase-MOI; HERNA; K12H4.8-LIKE; KIAA0928 |
| Mass (Da): | 218682 |
| Number AA: | 1922 |
| UniProt ID: | Q9UPY3 |
| Locus ID: | 23405 |
| COSMIC ID: | DICER1 |
| Gene location on chromosome: | 14q32.13 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 24224 |
| Percent of cancer specimens with mutations: | 1.89 |
| Mutations observed as inherited: | Defects in DICER1 are a cause of pleuropulmonary blastoma (PPB) [MIM:601200]. PPB is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome |
| Normal role description: | Required for formation of the RNA induced silencing complex (RISC). May be downstream of TAp63 gene. It can be inferred that loss of function will lead to the inability to silence a variety of transcription/translation targets and promote oncogenesis |