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: | CDKN1B |
| Gene Name: | CDKN1B |
| Protein Full Name: | Cyclin-dependent kinase inhibitor 1B |
| Alias: | Cyclin-dependent kinase inhibitor p27;p27Kip1 |
| Mass (Da): | 22073 |
| Number AA: | 198 |
| UniProt ID: | P46527 |
| Locus ID: | 1027 |
| COSMIC ID: | CDKN1B |
| Gene location on chromosome: | 12p13 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 21159 |
| Percent of cancer specimens with mutations: | 0.42 |
| Mutations observed as inherited: | Mutated in multiple endocrine neoplasia type 4; nonsense mutation in hyperparathyroidism/pituitary adenoma/angiomyolipoma; -79C/T SNP in prostate cancer |
| 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: | CDKN1B is involved in G1 phase arrest in the cell cycle, making it an important regulator of cell cycle progression. It can inhibit cyclin E- and cyclin A-CDK2 complexes, and can both inhibitor or activate cyclin type D-CDK4 complexes depending on phosphorylation state. Defects in CDKN1B, such as a P69L mutation, have been associated with multiple endocrine neoplasia type 4 (MEN4), an inherited cancer syndrome of the thyroid. There is also a significant association between the 79C/T SNP and familial prostate cancer, and a nonsense mutation of the gene has been associated with familial hyperparathyroidism, pituitary adenoma, and angiomyolipoma. |