Species Human Entrez 2099 | Human Mouse Ensembl ENSG00000091831 | |
 | ||
Aliases ESR1, ER, ESR, ESRA, ESTRR, Era, NR3A1, estrogen receptor 1 External IDs OMIM: 133430 MGI: 1352467 HomoloGene: 47906 GeneCards: ESR1 | ||
Estrogen receptor alpha (ERα), also known as NR3A1 (nuclear receptor subfamily 3, group A, member 1), is one of two main types of estrogen receptor, a nuclear receptor that is activated by the sex hormone estrogen. In humans, ERα is encoded by the gene ESR1 (EStrogen Receptor 1).
Contents
Structure
The estrogen receptor (ER) is a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. Alternative splicing results in several ESR1 mRNA transcripts, which differ primarily in their 5-prime untranslated regions. The translated receptors show less variability.
Agonists
Agonists of ERα selective over ERβ include:
Antagonists
Antagonists of ERα selective over ERβ include:
Clinical significance
Estrogen insensitivity syndrome is a very rare condition characterized by a defective ERα that is insensitive to estrogens. The clinical presentation of a female was observed to include absence of breast development and other female secondary sexual characteristics at puberty, hypoplastic uterus, primary amenorrhea, enlarged multicystic ovaries and associated lower abdominal pain, mild hyperandrogenism (manifested as cystic acne), and delayed bone maturation as well as an increased rate of bone turnover. The clinical presentation in a male was reported to include lack of epiphyseal closure, tall stature, osteoporosis, and poor sperm viability. Both individuals were completely insensitive to exogenous estrogen treatment, even with high doses.
Coactivators
Coactivators of ER-α include:
Interactions
Estrogen receptor alpha has been shown to interact with: