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: | ESRRA |
Gene Name: | ESRRA |
Protein Full Name: | Steroid hormone receptor ERR1 |
Alias: | ERR- alpha; ERRa; ERRalpha; ESRL1; Estrogen receptor-like 1; Estrogen-related receptor alpha; Estrogen-related receptor, alpha; NR3B1 |
Mass (Da): | 45510 |
Number AA: | 423 |
UniProt ID: | P11474 |
Locus ID: | 2101 |
COSMIC ID: | ESRRA |
Gene location on chromosome: | 11q13.1 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 19627 |
Percent of cancer specimens with mutations: | 0.44 |
Deregulated in translocations: | Serous Ovarian Carcinoma. Binding partner C11orf20 |
Normal role description: | ESRRA is a nuclear receptor with homology to the estrogen receptor and can also be activated by estrogen. ESRRA has no known endogenous ligand and may be activated constitutively independent of ligand binding. ESRRA binds site specific promoter regions on DNA as either a monomer or homodimer to activate transcription through recruitment of transcription factors such as TFIIB and PGC-1a. ESRRA has been found to function in regulating energy metabolism pathways including gluconeogenesis, fatty acid metabolism and oxidative phosphorylation by activating the transcription of lactoferrin, osteopontin, medium-chain acyl coenzyme A dehydrogenase (MCAD) and thyroid hormone receptor genes. Increased expression of ESRRA has been observed breast, ovarian, and colorectal cancers. ESRRA may therefore act as a oncogene to activate transcription. |