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: | CCND1 |
| Gene Name: | CCND1 |
| Protein Full Name: | G1/S-specific cyclin-D1 |
| Alias: | BCL1; CCND1; CYL-1; G1,S-specific cyclin D1; PRAD1 |
| Mass (Da): | 33729 |
| Number AA: | 295 |
| UniProt ID: | P24385 |
| Locus ID: | 595 |
| COSMIC ID: | CCND1 |
| Gene location on chromosome: | 11q13 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20815 |
| Percent of cancer specimens with mutations: | 0.44 |
| Found in amplified chromosomal regions in human cancers: | Breast and squamous cell carcinomas (40-50%) |
| Deregulated in translocations: | t(11;14)(q13;q32): BCL1 - IgH; t(11;11)(q13,p15): BCL1-PTH |
| Deregulated by viral insertion: | Friend murine leukemia virus (FMLV) - Mouse |
| Normal role description: | Cyclin D1 is a cyclin-dependent protein kinase activator. It is involved in cell cycle regulation at G1. Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G1/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G1 phase. Hypophosphorylates RB1 in early G1 phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D1/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. |