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: | ESR1 |
| Gene Name: | ESR1 |
| Protein Full Name: | Estrogen receptor |
| Alias: | ER; Era; ESR; ESR1; ESTR; ESTRA; Estradiol receptor; estrogen receptor 1; NR3A1 |
| Mass (Da): | 66216 |
| Number AA: | 595 |
| UniProt ID: | P03372 |
| Locus ID: | 2099 |
| COSMIC ID: | ESR1 |
| Gene location on chromosome: | 6q25.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20205 |
| Percent of cancer specimens with mutations: | 0.74 |
| Deregulated in translocations: | FASN/ESR1 fusion in prostate, bladder, cervical and breast cancer |
| Normal role description: | The estrogen receptor is a ligand-activated transcription factor essential for sexual development and reproductive function, but it also plays a role in for example bone tissue. It binds to DNA when homo- or heterodimerized with ESR2, and is involved in pathological processes such as breast- and endometrial cancer, and osteoporosis. Estrogen receptor expression in normal breast tissue increases the risk of breast cancer |