Estrogen Receptor Alpha (ERα; NR3A1)

This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The protein localizes to the nucleus where it may form a homodimer or a heterodimer with estrogen receptor 2. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Estrogen receptors are also involved in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative promoter usage and alternative splicing result in dozens of transcript variants, but the full-length nature of many of these variants has not been determined.

[provided by RefSeq, Mar 2014]

Estrogen Receptor Alpha Structure

 human-estrogen-receptor

(From Structure)

Link

(From Aceview)

There are 1537 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases (Anorexia Nervosa; Anxiety; Arteriosclerosis; Asthma; Atherosclerosis, susceptibility to; Biliary Tract Neoplasms; bone density; bone mineral density; Bone Neoplasms; Breast Neoplasms and 69 others), proposed to participate in pathways (CARM1 and Regulation of the Estrogen Receptor, Downregulated of MTA-3 in ER-negative Breast Tumors, Pelp1 Modulation of Estrogen Receptor Activity) and processes (androgen metabolic process, antral ovarian follicle growth, epithelial cell development, epithelial cell proliferation involved in mammary gland duct elongation, male gonad development and 12 others). Proteins are expected to have molecular functions(hormone binding, metal ion binding, protein binding, protein complex binding and 4 others) and to localize in various compartments (membrane, cytoplasm, neuron projection, perikaryon, T-tubule, terminal button). Putative protein interactors have been described (AHR, AKAP13, AKT1, AKT2, AMPD1ANDDENND2CANDBCAS2, ANKRD35ANDPIAS3, ANP32A, AP1B1, APBB3ANDSRA1, AR and 234 others). 

(From HuGENavigator)

Over 290 Diseases associated with this receptor. Please see HuGENavigator for more information.

  • Breast Neoplasms 
  • Osteoporosis, Postmenopausal 
  • Osteoporosis 
  • Prostatic Neoplasms 
  • Alzheimer Disease 
  • Endometriosis 
  • Coronary Artery Disease 
  • Cardiovascular Diseases 
  • Obesity 
  • Disease Progression 
  • Fractures, Bone 
  • Endometrial Neoplasms 
  • Diabetes Mellitus, Type 2 
  • Migraine Disorders 
  • Myocardial Infarction 
  • Leiomyoma 
  • Uterine Neoplasms 
  • Infertility, Male 
  • Hip Fractures 
  • Schizophrenia 
  • Scoliosis 
  • Infertility, Female 
  • Metabolic Syndrome X 
  • Hypertension 
  • Colorectal Neoplasms 
  • Cryptorchidism 
  • Lupus Erythematosus, Systemic 
  • Neoplasms 
  • Osteoarthritis, Knee 
  • Oligospermia 
  • Stroke 
  • Polycystic Ovary Syndrome 
  • Primary Ovarian Insufficiency 
  • Osteoarthritis 
  • Neoplasm Invasiveness 
  • Lung Neoplasms 
  • Kidney Failure, Chronic 
  • Inflammation 

Assay Kits and Services are available from INDIGO Biosciences.

Kits are offered in different assay formats to accommodate researchers’ needs: 3x 32, 1x 96, and 1x 384 assay formats for screening small numbers of test compounds, as well as custom bulk reagents for HTS applications. Assay systems are all inclusive, providing reporter cells, optimized growth media, media for diluting test compounds, a positive-control agonist, luciferase detection reagent, a white assay plate, a detailed protocol, and a protocol quick guide. All kits are shipped on dry ice.

ERα Reporter Cells are prepared using INDIGO’s proprietary CryoMite™ process. This cryo-preservation method yields high cell viability post-thaw, and provides the convenience of immediately dispensing healthy, division-competent reporter cells into assay plates. There is no need for intermediate spin-and-wash steps, viability determinations, or cell titer adjustments.

The principle application of this assay product is in the screening of test samples to quantify functional activities, either agonist or antagonist, that they may exert against the estrogen receptor alpha. This kit product is an all-inclusive assay system that includes, in addition to ERα Reporter Cells, two optimized media for use during cell culture and (optionally) in diluting the test samples, a reference agonist, Luciferase Detection Reagent, a cell culture-ready assay plate, and a detailed protocol.

ER; ESR; Era; ESRA; ESTRR; NR3A1

From Aceview)

The gene contains 11 distinct gt-ag introns. Transcription produces 8 different mRNAs, 7 alternatively spliced variants and 1 unspliced form. There are 3 non overlapping alternative last exons and 5 validated alternative polyadenylation sites (see the diagram). The mRNAs appear to differ by truncation of the 5′ end, truncation of the 3′ end, presence or absence of 5 cassette exons. Note that mRNA .gAug10 was found in vivo, although it is a predicted target of nonsense mediated mRNA decay (NMD). 

 image-22_med

(From STRINGS)

AHR, AKAP13, AKT1, AKT2, AMPD1ANDDENND2CANDBCAS2, ANKRD35ANDPIAS3, ANP32A, AP1B1, APBB3ANDSRA1, AR and 234 others

(From KEGG)

  • Ethinylestradiol
  • Estradiol
  • Estriol
  • Estrone
  • Promestriene
  • Conjugated estrogens
  • Dienestrol
  • Diethylstilbestrol
  • Tibolone
  • Clomifene
  • Raloxifene
  • Bazedoxifene
  • Lasofoxifene
  • Ormeloxifen
  • Ospemifene
  • Polyestradiol phosphate
  • Tamoxifen
  • Toremifene
  • Fulvestrant

(From BioGPS)

gene-expression-estrogen