ESR1
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| estrogen receptor 1 | MIM:133430 | Ensembl:ENSG00000091831 | HGNC:HGNC:3467 | PA156 | 6q25.1-q25.2 |
GO terms in ESR1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IDA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IPI | GO:0001093 | TFIIB-class transcription factor binding |
| MF | IPI | GO:0001223 | transcription coactivator binding |
| MF | IDA | GO:0003682 | chromatin binding |
| MF | NAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | TAS | GO:0003707 | steroid hormone receptor activity |
| MF | ISS | GO:0005496 | steroid binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008013 | beta-catenin binding |
| MF | IPI | GO:0008134 | transcription factor binding |
| MF | IEA | GO:0008270 | zinc ion binding |
| MF | IPI | GO:0017025 | TBP-class protein binding |
| MF | IPI | GO:0019899 | enzyme binding |
| MF | IPI | GO:0019901 | protein kinase binding |
| MF | NAS | GO:0030235 | nitric-oxide synthase regulator activity |
| MF | IDA | GO:0030284 | estrogen receptor activity |
| MF | NAS | GO:0030284 | estrogen receptor activity |
| MF | TAS | GO:0030284 | estrogen receptor activity |
| MF | IPI | GO:0030331 | estrogen receptor binding |
| MF | IDA | GO:0034056 | estrogen response element binding |
| MF | IDA | GO:0038052 | RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding |
| MF | IGI | GO:0038052 | RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | TAS | GO:0046934 | phosphatidylinositol-4,5-bisphosphate 3-kinase activity |
| MF | IDA | GO:0051117 | ATPase binding |
| CC | IDA | GO:0000790 | nuclear chromatin |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IEA | GO:0005794 | Golgi apparatus |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | NAS | GO:0016020 | membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IMP | GO:0032991 | protein-containing complex |
| CC | IDA | GO:0035327 | transcriptionally active chromatin |
| CC | IDA | GO:0097550 | transcriptional preinitiation complex |
| BP | IMP | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0001547 | antral ovarian follicle growth |
| BP | IEA | GO:0002064 | epithelial cell development |
| BP | NAS | GO:0006338 | chromatin remodeling |
| BP | TAS | GO:0006351 | transcription, DNA-templated |
| BP | NAS | GO:0006355 | regulation of transcription, DNA-templated |
| BP | TAS | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0006366 | transcription by RNA polymerase II |
| BP | TAS | GO:0006367 | transcription initiation from RNA polymerase II promoter |
| BP | TAS | GO:0007165 | signal transduction |
| BP | ISS | GO:0007200 | phospholipase C-activating G-protein coupled receptor signaling pathway |
| BP | ISS | GO:0007204 | positive regulation of cytosolic calcium ion concentration |
| BP | IEA | GO:0008209 | androgen metabolic process |
| BP | IEA | GO:0008584 | male gonad development |
| BP | IDA | GO:0010629 | negative regulation of gene expression |
| BP | ISS | GO:0010863 | positive regulation of phospholipase C activity |
| BP | TAS | GO:0016579 | protein deubiquitination |
| BP | TAS | GO:0030111 | regulation of Wnt signaling pathway |
| BP | ISS | GO:0030518 | intracellular steroid hormone receptor signaling pathway |
| BP | IDA | GO:0030520 | intracellular estrogen receptor signaling pathway |
| BP | NAS | GO:0030520 | intracellular estrogen receptor signaling pathway |
| BP | IDA | GO:0032355 | response to estradiol |
| BP | TAS | GO:0033146 | regulation of intracellular estrogen receptor signaling pathway |
| BP | IEA | GO:0034121 | regulation of toll-like receptor signaling pathway |
| BP | IEA | GO:0042981 | regulation of apoptotic process |
| BP | IDA | GO:0043124 | negative regulation of I-kappaB kinase/NF-kappaB signaling |
| BP | IDA | GO:0043433 | negative regulation of DNA-binding transcription factor activity |
| BP | IDA | GO:0043627 | response to estrogen |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045899 | positive regulation of RNA polymerase II transcriptional preinitiation complex assembly |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0046854 | phosphatidylinositol phosphorylation |
| BP | IEA | GO:0048146 | positive regulation of fibroblast proliferation |
| BP | IEA | GO:0048863 | stem cell differentiation |
| BP | IEA | GO:0050727 | regulation of inflammatory response |
| BP | IDA | GO:0051091 | positive regulation of DNA-binding transcription factor activity |
| BP | TAS | GO:0051897 | positive regulation of protein kinase B signaling |
| BP | IEA | GO:0060065 | uterus development |
| BP | IEA | GO:0060068 | vagina development |
| BP | IEA | GO:0060523 | prostate epithelial cord elongation |
| BP | IEA | GO:0060527 | prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis |
| BP | IEA | GO:0060687 | regulation of branching involved in prostate gland morphogenesis |
| BP | IEA | GO:0060745 | mammary gland branching involved in pregnancy |
| BP | IEA | GO:0060749 | mammary gland alveolus development |
| BP | IEA | GO:0060750 | epithelial cell proliferation involved in mammary gland duct elongation |
| BP | IMP | GO:0071168 | protein localization to chromatin |
| BP | IEA | GO:0071391 | cellular response to estrogen stimulus |
| BP | IDA | GO:0071392 | cellular response to estradiol stimulus |
| BP | ISS | GO:0071392 | cellular response to estradiol stimulus |
| BP | IMP | GO:1903799 | negative regulation of production of miRNAs involved in gene silencing by miRNA |
Gene expression in normal tissue: ESR1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ESR1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | carmerpathway | carm1 and regulation of the estrogen receptor |
| biocarta | efppathway | estrogen responsive protein efp controls cell cycle and breast tumors growth |
| biocarta | her2pathway | role of erbb2 in signal transduction and oncology |
| biocarta | mta3pathway | downregulated of mta-3 in er-negative breast tumors |
| biocarta | pelp1pathway | pelp1 modulation of estrogen receptor activity |
| biocarta | tertpathway | overview of telomerase protein component gene htert transcriptional regulation |
| reactome | R-HSA-1236394 | Signaling by ERBB4 |
| reactome | R-HSA-1251985 | Nuclear signaling by ERBB4 |
| reactome | R-HSA-1257604 | PIP3 activates AKT signaling |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-199418 | Negative regulation of the PI3K/AKT network |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2219528 | PI3K/AKT Signaling in Cancer |
| reactome | R-HSA-2219530 | Constitutive Signaling by Aberrant PI3K in Cancer |
| reactome | R-HSA-2990846 | SUMOylation |
| reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
| reactome | R-HSA-383280 | Nuclear Receptor transcription pathway |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-4090294 | SUMOylation of intracellular receptors |
| reactome | R-HSA-5663202 | Diseases of signal transduction |
| reactome | R-HSA-5688426 | Deubiquitination |
| reactome | R-HSA-5689896 | Ovarian tumor domain proteases |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-6811558 | PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8864260 | Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors |
| reactome | R-HSA-8866910 | TFAP2 (AP-2) family regulates transcription of growth factors and their receptors |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-8931987 | RUNX1 regulates estrogen receptor mediated transcription |
| reactome | R-HSA-8939211 | ESR-mediated signaling |
| reactome | R-HSA-8939256 | RUNX1 regulates transcription of genes involved in WNT signaling |
| reactome | R-HSA-8939902 | Regulation of RUNX2 expression and activity |
| reactome | R-HSA-8939902 | Regulation of RUNX2 expression and activity |
| reactome | R-HSA-9006925 | Intracellular signaling by second messengers |
| reactome | R-HSA-9006931 | Signaling by Nuclear Receptors |
| reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| reactome | R-HSA-9018519 | Estrogen-dependent gene expression |
| netpath | Pathway_AndrogenReceptor | AndrogenReceptor |
| netpath | Pathway_Leptin | Leptin |
| netpath | Pathway_Prolactin | Prolactin |
| netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
| kegg | hsa04915 | Estrogen signaling pathway - Homo sapiens (human) |
| kegg | hsa04917 | Prolactin signaling pathway - Homo sapiens (human) |
| kegg | hsa04919 | Thyroid hormone signaling pathway - Homo sapiens (human) |
| kegg | hsa04961 | Endocrine and other factor-regulated calcium reabsorption - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05205 | Proteoglycans in cancer - Homo sapiens (human) |
| kegg | hsa05224 | Breast cancer - Homo sapiens (human) |
| wikipathways | WP170 | Nuclear Receptors |
| wikipathways | WP1984 | Integrated Breast Cancer Pathway |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| wikipathways | WP2034 | Leptin signaling pathway |
| wikipathways | WP2586 | Aryl Hydrocarbon Receptor |
| wikipathways | WP2593 | JAK-STAT |
| wikipathways | WP2881 | Estrogen Receptor Pathway |
| wikipathways | WP2882 | Nuclear Receptors Meta-Pathway |
| wikipathways | WP4086 | Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors |
| wikipathways | WP712 | Estrogen signaling pathway |
| smpdb | SMP00471 | Tamoxifen Action Pathway |
| smpdb | SMP00606 | Tamoxifen Metabolism Pathway |
| pid | ap1_pathway | AP-1 transcription factor network |
| pid | atf2_pathway | ATF-2 transcription factor network |
| pid | er_nongenomic_pathway | Plasma membrane estrogen receptor signaling |
| pid | era_genomic_pathway | Validated nuclear estrogen receptor alpha network |
| pid | foxm1pathway | FOXM1 transcription factor network |
| pid | hdac_classii_pathway | Signaling events mediated by HDAC Class II |
| pid | hnf3apathway | FOXA1 transcription factor network |
| pid | lkb1_pathway | LKB1 signaling events |
| pid | p38alphabetadownstreampathway | Signaling mediated by p38-alpha and p38-beta |
| pid | smad2_3nuclearpathway | Regulation of nuclear SMAD2/3 signaling |
| pid | telomerasepathway | Regulation of Telomerase |
| pharmgkb | PA145011120 | Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD818 | anti-estrogens | 9 |
| iGMDRD420 | Leucascandrolide A | 2 |
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD1008 | SR-II-138A | 3 |
| iGMDRD70 | LHRH analogues or antagonist | 1 |
| iGMDRD546 | BMS-754807 | 3 |
| iGMDRD142 | NSC74859 | 2 |
| iGMDRD902 | Endocrine therapy | 21 |
| iGMDRD61 | Kinetin riboside | 1 |
| iGMDRD466 | Chaetocin | 2 |
| iGMDRD280 | CYTOCHALASIN B | 5 |
| iGMDRD359 | OSW-1 | 3 |
| iGMDRD138 | PX 12 | 3 |
| iGMDRD802 | 4-methylfasudil | 1 |
| iGMDRD260 | FQI-2 | 1 |
| iGMDRD284 | Palbociclib | 2 |
| iGMDRD885 | Compound 110 | 5 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD100 | Zebularine | 2 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD562 | Navitoclax | 5 |
| iGMDRD731 | GDC-0810 | 9 |
| iGMDRD919 | Hormone Therapy | 5 |
| iGMDRD23 | Gossypol | 3 |
| iGMDRD524 | ISX-9 | 5 |
| iGMDRD424 | Tamatinib | 2 |
| iGMDRD523 | Cyanoquinoline, 11 | 3 |
| iGMDRD57 | Chloropentafluorobenzene | 5 |
| iGMDRD101 | Fulvestrant | 8 |
| iGMDRD28 | Letrozole | 2 |
| iGMDRD202 | Curcumin | 4 |
| iGMDRD310 | Everolimus | 1 |
| iGMDRD221 | Tamoxifen | 15 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD481 | Dactolisib | 5 |
| iGMDRD871 | BRD6368 | 3 |
| iGMDRD286 | Nsc 632839 | 2 |
| iGMDRD8 | Anastrozole | 1 |
| iGMDRD650 | Abemaciclib | 1 |
| iGMDRD960 | novel estrogen receptor degrader | 2 |
| iGMDRD505 | Pevonedistat | 2 |
| iGMDRD82 | Quiflapon | 1 |
| iGMDRD9 | Aromatase ihibitor | 1 |
| iGMDRD783 | BRD-K93923542-001-01-9 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ESR1
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.