What is the Origin of ESR1?

The acronym ESR1 stands for Estrogen Receptor 1, directly reflecting its discovery as the first identified intracellular receptor for the steroid hormone estrogen. Its naming followed the characterization of its gene sequence and chromosomal location, solidifying its place as a key component of the nuclear receptor superfamily. The identification of this receptor was foundational to understanding the molecular mechanism of steroid hormone action in human physiology.

What is the Mechanism of ESR1?

The ERα protein functions as a hormone-dependent transcription factor. When estradiol binds to ERα within the cell nucleus, the receptor undergoes a conformational change, dimerizes, and subsequently binds to specific DNA sequences known as Estrogen Response Elements (EREs) in the promoter regions of target genes. This binding initiates or represses the transcription of genes responsible for various physiological functions, effectively translating the hormonal signal into a specific cellular response. The precise expression and activity of ERα are thus central to estrogen's biological impact.

ESR1

Meaning

ESR1, or Estrogen Receptor 1, is the gene that provides instructions for making the Estrogen Receptor Alpha (ERα) protein, a critical ligand-activated transcription factor in the human endocrine system. This nuclear receptor mediates the majority of classical estrogenic effects by binding to the primary female sex hormone, estradiol. ERα is widely expressed in tissues such as the breast, uterus, bone, liver, and brain, playing a central role in regulating reproductive function, bone density, cardiovascular health, and neuroprotection. Genetic variations within the ESR1 gene can influence an individual’s sensitivity and response to endogenous and exogenous estrogens.