ESR1

Gene Information
 
Gene Symbol
ESR1
 
Aliases
ER, ESR, ESRA, ESTRR, Era, NR3A1
 
Entrez Gene ID
 
Gene Name
Estrogen receptor 1
 
Chromosomal Location
6q24-q27
 
HGNC ID
 
Summary
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)
 
GeneCards ID
 
RefSeq DNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006338 Biological process Chromatin remodeling NAS 12351687
GO:0006351 Biological process Transcription, DNA-templated TAS 2040605
GO:0006355 Biological process Regulation of transcription, DNA-templated NAS 3753802
GO:0007165 Biological process Signal transduction TAS 10749889
GO:0030520 Biological process Intracellular estrogen receptor signaling pathway NAS 3753802
Protein Information
 
Protein Name
ER-alpha, estradiol receptor, estrogen nuclear receptor alpha, estrogen receptor alpha E1-E2-1-2, estrogen receptor alpha E1-N2-E2-1-2, nuclear receptor subfamily 3 group A member 1
 
Function
Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA-binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE-independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial association with multiprotein coactivator complexes through LXXLL motifs of their respective components. Mutual transrepression occurs between the estrogen receptor (ER) and NF-kappa-B in a cell-type specific manner. Decreases NF-kappa-B DNA-binding activity and inhibits NF-kappa-B-mediated transcription from the IL6 promoter and displace RELA/p65 and associated coregulators from the promoter. Recruited to the NF-kappa-B response element of the CCL2 and IL8 promoters and can displace CREBBP. Present with NF-kappa-B components RELA/p65 and NFKB1/p50 on ERE sequences. Can also act synergistically with NF-kappa-B to activate transcription involving respective recruitment adjacent response elements; the function involves CREBBP. Can activate the transcriptional activity of TFF1. Also mediates membrane-initiated estrogen signaling involving various kinase cascades. Isoform 3 is involved in activation of NOS3 and endothelial nitric oxide production. Isoforms lacking one or several functional domains are thought to modulate transcriptional activity by competitive ligand or DNA binding and/or heterodimerization with the full length receptor. Isoform 3 can bind to ERE and inhibit isoform 1
 
Refseq Proteins
 
UniProt
 
InterPro
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Abnormal follicular development 12466349
Endometrial hyperplasia 16677694
Infertility 21269226
Spontaneous abortion 18600000
   
References
 
Primary:

Expression of GPR30, ERalpha and ERbeta in endometrium during window of implantation in patients with polycystic ovary syndrome: a pilot study.

Wang Aiming, Ji Lijuan, Shang Wei, Li Min, Chen Lei, White Richard E, Han Guichun
Department of Obstetrics and Gynecology, Navy General Hospital, Beijing 10048, PRC. one_army@sohu.com
Gynecol Endocrinol. 2011 Apr;27(4):251-5. doi: 10.3109/09513590.2010.487584. Epub
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
PR 
Infertility 
 
 
Related 
 
The endometrial histopathological changes and local decrease or absence of ER and PR in PCOS might be one of the causal factors of infertility. 
ERbeta 
Abnormal follicular development 
 
NIH 
Related 
 
The results of this study demonstrate that there are significant alterations in the expression of ERalpha and ERbeta in PCOS that may be related to abnormal follicular development. 
Er and PR 
Spontaneous abortion 
 
 
Related 
 
The decrease of ER and PR of endometrial in the PCOS patients, may be a reason for spontaneous abortion, and the cyclical irregularity of ER and PR in the PCOS patients is another cause of spontaneous abortion. 
Androgen receptor (AR), estrogen receptor beta (ERbeta), co-activators AIB1 and ARA70 
Endometrial hyperplasia 
 
 
Related 
 
The PCOS endometrium exhibits a higher sensitivity to steroid action. We can inferred that these alterations could deregulate the transcription of genes involved in the cell cycle, which may lead to the development of endometrial hyperplasia in PCOS women. 
ER and the novel G protein-coupled ER (GPR30) 
Infertility 
 
 
Related 
Chinese- 15 PCOS and 15 controls 
The study proposes that restored receptor expression might improve endometrial receptivity and help lower infertility associated with PCOS. 

Unreviewed Literature:

Show/Hide all(4)
PubMed / PMC ID
Title Type of study
26148093, PMC4492923
In an Ovine Model of Polycystic Ovary Syndrome (PCOS) Prenatal Androgens Suppress Female Fetal Renal Gluconeogenesis. 
Animal study 
25617525
Estrogen receptor ??lpha gene (ESR1) PvuII and XbaI polymorphisms are associated to metabolic and proinflammatory factors in polycystic ovary syndrome. 
Clinical study 
25100445
Genetic polymorphisms in Pakistani women with polycystic ovary syndrome. 
Clinical study 
23614677
The impact of genetics profile (gene polymorphisms) in obese non-PCOS women entering an IVF/ICSI program. 
Clinical study 

 

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