ESR1 encodes for Estrogen receptor alpha, which is important in hormone and DNA binding and activation of transcription (R).

It is important for sexual development, reproductive function, and plays a role in other tissues (R).

The receptors are also involved with breast and endometrial cancer and osteoporosis (R).

From NCBI Gene: Estrogen resistanceFamilial cancer of breastMyocardial infarction 1MigraineFrom UniProt: Estrogen resistance (ESTRR): A disorder characterized by partial or complete resistance to estrogens, in the presence of elevated estrogen serum levels. Clinical features include absence of the pubertal growth spurt, delayed bone maturation, unfused epiphyses, reduced bone mineral density, osteoporosis, continued growth into adulthood and very tall adult stature. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present. [MIM:615363]

From NCBI Gene: 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] From UniProt: 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. Essential for MTA1-mediated transcriptional regulation of BRCA1 and BCAS3. Isoform 3 can bind to ERE and inhibit isoform 1.

The following transcription factors affect gene expression:

• FOXO3
• FOXO3a
• p53
• AP-1
• AhR
• GATA-3
• AP-2gamma

Tissue specificity:

Widely expressed. Isoform 3 is not expressed in the pituitary gland.

Molecular Function:

• Atpase Binding
• Beta-Catenin Binding
• Chromatin Binding
• Core Promoter Sequence-Specific Dna Binding
• Enzyme Binding
• Estrogen Receptor Activity
• Estrogen Response Element Binding
• Identical Protein Binding
• Nitric-Oxide Synthase Regulator Activity
• Rna Polymerase Ii Core Promoter Proximal Region Sequence-Specific Dna Binding
• Rna Polymerase Ii Transcription Factor Activity, Estrogen-Activated Sequence-Specific Dna Binding
• Steroid Binding
• Steroid Hormone Receptor Activity
• Transcriptional Activator Activity, Rna Polymerase Ii Core Promoter Proximal Region Sequence-Specific Binding
• Transcription Factor Activity, Sequence-Specific Dna Binding
• Transcription Factor Binding
• Zinc Ion Binding
• Hormone Binding

Biological Processes:

• Androgen Metabolic Process
• Antral Ovarian Follicle Growth
• Cellular Response To Estradiol Stimulus
• Cellular Response To Estrogen Stimulus
• Chromatin Remodeling
• Epithelial Cell Development
• Epithelial Cell Proliferation Involved In Mammary Gland Duct Elongation
• Intracellular Estrogen Receptor Signaling Pathway
• Intracellular Steroid Hormone Receptor Signaling Pathway
• Male Gonad Development
• Mammary Gland Alveolus Development
• Mammary Gland Branching Involved In Pregnancy
• Negative Regulation Of Gene Expression
• Negative Regulation Of I-Kappab Kinase/Nf-Kappab Signaling
• Negative Regulation Of Production Of Mirnas Involved In Gene Silencing By Mirna
• Negative Regulation Of Sequence-Specific Dna Binding Transcription Factor Activity
• Negative Regulation Of Transcription From Rna Polymerase Ii Promoter
• Phospholipase C-Activating G-Protein Coupled Receptor Signaling Pathway
• Positive Regulation Of Cytosolic Calcium Ion Concentration
• Positive Regulation Of Fibroblast Proliferation
• Positive Regulation Of Nitric Oxide Biosynthetic Process
• Positive Regulation Of Nitric-Oxide Synthase Activity
• Positive Regulation Of Phospholipase C Activity
• Positive Regulation Of Sequence-Specific Dna Binding Transcription Factor Activity
• Positive Regulation Of Transcription, Dna-Templated
• Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
• Prostate Epithelial Cord Arborization Involved In Prostate Glandular Acinus Morphogenesis
• Prostate Epithelial Cord Elongation
• Protein Localization To Chromatin
• Regulation Of Apoptotic Process
• Regulation Of Branching Involved In Prostate Gland Morphogenesis
• Regulation Of Inflammatory Response
• Regulation Of Toll-Like Receptor Signaling Pathway
• Regulation Of Transcription, Dna-Templated
• Response To Estradiol
• Response To Estrogen
• Signal Transduction
• Transcription, Dna-Templated
• Transcription From Rna Polymerase Ii Promoter
• Transcription Initiation From Rna Polymerase Ii Promoter
• Uterus Development
• Vagina Development
• Baculum Development
• Decidualization
• Negative Regulation Of Glucose Import
• Negative Regulation Of Neuron Death
• Negative Regulation Of Smooth Muscle Cell Proliferation
• Negative Regulation Of Triglyceride Metabolic Process
• Osteoblast Development
• Positive Regulation Of Epidermal Growth Factor Receptor Signaling Pathway
• Positive Regulation Of Epithelial Cell Proliferation
• Positive Regulation Of Erk1 And Erk2 Cascade
• Regulation Of Neuron Apoptotic Process
• Sertoli Cell Development
• Sertoli Cell Proliferation

Drug Bank:

• Allylestrenol
• Clomifene
• Conjugated Estrogens
• Raloxifene
• Danazol
• Desogestrel
• Dienestrol
• Diethylstilbestrol
• Estradiol
• Estriol
• Estrone
• Estropipate
• Ethinyl Estradiol
• Ethynodiol
• Etonogestrel
• Fulvestrant
• Levonorgestrel
• Medroxyprogesterone Acetate
• Melatonin
• Mestranol
• Naloxone
• Ospemifene
• Progesterone
• Quinestrol
• Tamoxifen
• Toremifene
• Bazedoxifene
• Estramustine
• Fluoxymesterone
• Norgestimate
• Trilostane