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: | JAG1 |
| Gene Name: | JAG1 |
| Protein Full Name: | Protein jagged-1 |
| Alias: | AGS; AHD; AWS; CD339; HJ1; J1; Jagged 1; Jagged 1 (Alagille syndrome); Jagged1; JAGL1; Protein jagged-1 |
| Mass (Da): | 133799 |
| Number AA: | 1218 |
| UniProt ID: | P78504 |
| Locus ID: | 182 |
| COSMIC ID: | JAG1 |
| Gene location on chromosome: | 20p12.1-11.23 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20421 |
| Percent of cancer specimens with mutations: | 0.96 |
| 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: | JAG1 is the ligand for several Notch receptors and mediates its signalling. It may play a role in hematopoietic cell differentiation, especially during early and late stages of mammalian cardiovascular development. It can enhance FGF-induced angiogenesis in vitro and inhibit myoblast differentiation. Its expression has been noted to increase via Wnt signalling in colorectal cancers, resulting in activation of the Notch pathway and promoting vasculogenesis. |