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: | E2F1 |
Gene Name: | E2F1 |
Protein Full Name: | Transcription factor E2F1 |
Alias: | E2F transcription factor 1; E2F-1; PBR3; PRB-binding protein E2F-1; RBAP-1; RBBP3; RBBP-3; RBP3; Retinoblastoma binding protein 3; Retinoblastoma-associated protein 1 |
Mass (Da): | 46920 |
Number AA: | 437 |
UniProt ID: | Q01094 |
Locus ID: | 1869 |
COSMIC ID: | E2F1 |
Gene location on chromosome: | 20q11.22 |
Cancer protein type: | OP/TSP |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | MIXED |
Number of cancer specimens: | 19908 |
Percent of cancer specimens with mutations: | 0.37 |
Found in amplified chromosomal regions in human cancers: | esophageal, colorectal, cervical cancers; in melanoma and leukemic cell lines |
Normal role description: | Binds a DNA recognition motif in promotor regions of target genes and acts as a transcription activator of cell cycle associated genes. In complex with DRTF1 it regulates transition from G1 to S phase. Involved in cell proliferation and p53 dependet and independent apoptosis. Preferentially binds to RB1 in a cell cycle dependent manner. |
Commentary on involvement of protein in cancer: | No mutations have been reported on the Atlas of Genetics in Oncology. Only one mutated sample described in the SANGER COSMIC database. |