ESR1

Description

The ESR1 (estrogen receptor 1) is a protein-coding gene located on chromosome 6.

ESR1 (Estrogen Receptor 1) is a nuclear receptor that binds to the hormone estrogen. It plays a key role in the development and function of many tissues and organs, including the reproductive system, nervous system, skeletal system, and cardiovascular system. ESR1 is encoded by the ESR1 gene in humans. The protein consists of several domains, including a hormone-binding domain, a DNA-binding domain, and an activation domain. These domains allow ESR1 to bind to estrogen, to DNA, and to activate gene expression. ESR1 is widely expressed throughout the body, with high levels found in the uterus, ovary, male reproductive organs, mammary gland, bone, heart, hypothalamus, pituitary gland, liver, lung, kidney, spleen, and adipose tissue. The function of ESR1 is critical for normal development and function. Mice lacking ESR1 have several developmental abnormalities, including infertility, impaired bone growth, and abnormal brain development. ESR1 is also a target for several drugs, including those used to treat breast cancer and osteoporosis.

ESR1 (Estrogen Receptor 1) is a nuclear hormone receptor involved in regulating eukaryotic gene expression, affecting cellular proliferation and differentiation in target tissues. It binds to estrogen response elements (EREs) in DNA, either as a homodimer or in association with other transcription factors. Binding to estrogen (e.g., estradiol) induces a conformational change, allowing it to interact with coactivator complexes and regulate gene expression. ESR1 can also interact with NF-kappa-B, modulating its activity and contributing to cell-type specific responses. ESR1 plays roles in various cellular processes, including transcriptional regulation of BRCA1 and BCAS3, neuronal survival in response to ischemic reperfusion injury, activation of NOS3 and nitric oxide production, and membrane-initiated estrogen signaling.

ESR1 is also known as ER, ESR, ESRA, ESTRR, Era, NR3A1.

Associated Diseases

Whole Exome Sequencing

Clinical Exome Sequencing

Genomepatri Longevity