Gene: ESR1 - Homo sapiens
Last modified: Dec 09, 2014. Release 1 • Page created: May 19, 2024
Summary
Gene Symbol | : | ESR1 | ||||||||||||||||
NCBI Gene ID | : | 2099 | ||||||||||||||||
Species | : | Homo sapiens | ||||||||||||||||
Gene Synonyms | : | ER | ER-alpha | Era | ESR | ESR1 | ESRA | estradiol receptor | estrogen nuclear receptor alpha | ESTROGEN RECEPTOR | estrogen receptor | ESTROGEN RECEPTOR 1 | estrogen receptor 1 | estrogen receptor alpha 3*,4,5,6,7*/822 isoform | estrogen receptor alpha delta 3*,4,5,6,7*,8*/941 isoform | estrogen receptor alpha delta 3*,4,5,6,7*/819-2 isoform | estrogen receptor alpha delta 4 +49 isoform | estrogen receptor alpha delta 4*,5,6,7*/654 isoform | estrogen receptor alpha delta 4*,5,6,7,8*/901 isoform | estrogen receptor alpha E1-E2-1-2 | estrogen receptor alpha E1-N2-E2-1-2 | ESTROGEN RECEPTOR, ALPHA | NR3A1 | nuclear receptor subfamily 3 group A member 1 | RP1-130E4.1 Source: GPSDB |
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Gene Homologs | : | ESR1 (Bos taurus) | ESR1 (Canis lupus familiaris) | esr1 (Danio rerio) | ESR1 (Gallus gallus) | ESR1 (Homo sapiens) | ESR1 (Macaca mulatta) | Esr1 (Mus musculus) | ESR1 (Pan troglodytes) | Esr1 (Rattus norvegicus) | ||||||||||||||||
Ageing Relevance Analysis | : |
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Ageing Factor Stable ID | : | AF_000152 | ||||||||||||||||
Download | : | XML |
Protein Information
Protein Name | Species | UniProt Accession Number | UniProt Entry Name | Protein Function | Sequence |
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Estrogen receptor | Homo sapiens | P03372 (UniProtKB/Swiss-Prot) | ESR1_HUMAN (UniProtKB/Swiss-Prot) | 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 activty by competitive ligand or DNA binding and/or heterodimerization with the full length receptor. Isoform 3 can bind to ERE and inhibit isoform 1. | View |
Estrogen nuclear receptor alpha | Homo sapiens | G4XH65 (UniProtKB/TrEMBL) | G4XH65_HUMAN (UniProtKB/TrEMBL) | View |
Observations
Ageing Phenotype
Data Type 1
Ageing Relevance:
- yes (Exp. Analysis)
- yes, but no ageing factor assigned (Exp. Analysis)
- no (Exp. Analysis)
- putative (Comp. Analysis)
# | Observation Stable ID | Species | Gene | Other Ageing Factor | Description | PubMed | Source | ||||
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1 | OB_009876 | Homo sapiens |
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ESR1 is a transcription factor that mediates the actions of estrogen. Mice without ESR1 were infertile and showed a variety of changes [1193]. Polymorphisms in the human ESR1 gene have been associated with cardiovascular disease [1740]. ESR1 has also been found to be upregulated in Alzheimer's disease [1185]. A role for ESR1 in human ageing is plausible though at present largely obscure. | GenAge |
Data Type 2
no ageing phenotype observation—data type 2 available
Homology Analysis
Ageing Relevance:
- yes (Exp. Analysis)
- yes, but no ageing factor assigned (Exp. Analysis)
- no (Exp. Analysis)
- putative (Comp. Analysis)
Legend:
- #EGHG:
- Number of Experimentally Confirmed Ageing-related Genes In Homology Group
# | Observation Stable ID | Homology Group Genes | #EGHG | Description | Source | Homology Source | ||||||||||||||||||||||||||||||
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1 | OB_008811 |
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1 | The HomoloGene homology group 47906 contains 1 gene with experimental evidence for ageing relevance (ESR1 - Homo sapiens) and 8 other genes. | AgeFactDB Homology Analysis | HomoloGene homology group 47906 |
Sequences
ESR1_HUMAN | P03372 | Estrogen receptor (Homo sapiens) from UniProtKB/Swiss-Prot Length: 595 10 20 30 40 50 60 70 80 90 100 110 120 130 140 150 160 170 180 190 200 210 220 230 240 250 260 270 280 290 300 310 320 330 340 350 360 370 380 390 400 410 420 430 440 450 460 470 480 490 500 510 520 530 540 550 560 570 580 590 ESR1_HUMAN 1 MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGVYTFLSSTLKSLEEKDHIHRVLDKITDTLIHLMAKAGLTLQQQHQRLAQLLLILSHIRHMSNKGMEHLYSMKCKNVVPLYDLLLEMLDAHRLHAPTSRGGASVEETDQSHLATAGSTSSHSLQKYYITGEAEGFPATV 595
G4XH65_HUMAN | G4XH65 | Estrogen nuclear receptor alpha (Homo sapiens) from UniProtKB/TrEMBL Length: 595 10 20 30 40 50 60 70 80 90 100 110 120 130 140 150 160 170 180 190 200 210 220 230 240 250 260 270 280 290 300 310 320 330 340 350 360 370 380 390 400 410 420 430 440 450 460 470 480 490 500 510 520 530 540 550 560 570 580 590 G4XH65_HUMAN 1 MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGVYTFLSSTLKSLEEKDHIHRVLDKITDTLIHLMAKAGLTLQQQHQRLAQLLLILSHIRHMSNKGMEHLYSMKCKNVVPLYDLLLEMLDAHRLHAPTSRGGASVEETDQSHLATAGSTSSHSLQKYYITGEAEGFPATV 595
References
MeSH Terms: Only a subset of the Medical Subject Headings terms is shown: the Major Topics MeSH terms. They describe one of the main topics discussed in the article denoted by an asterisk on the MeSH term or MeSH/Subheading combination on the PubMed page. MeSH terms that belong to the Ageing MeSH are highlighted in green.
- MacLusky NJ, Lieberburg I, McEwen BS:
The development of estrogen receptor systems in the rat brain: perinatal development.
Brain Res. 1979; 178: 129-42.
PubMed (ID: 497856)
MeSH Terms: Brain/physiology; Receptors, Estrogen/physiology - Dubal DB, Zhu H, Yu J, Rau SW, Shughrue PJ, Merchenthaler I, Kindy MS, Wise PM:
Estrogen receptor alpha, not beta, is a critical link in estradiol-mediated protection against brain injury.
Proc Natl Acad Sci USA. 2001; 98: 1952-7.
PubMed (ID: 11172057), PubMed Central (ID: PMC29363), doi:10.1073/pnas.041483198
MeSH Terms: Brain Injuries/prevention & control; Estradiol/physiology; Receptors, Estrogen/physiology - Ishunina TA, Swaab DF:
Increased expression of estrogen receptor alpha and beta in the nucleus basalis of Meynert in Alzheimer's disease.
Neurobiol Aging. 2001; 22: 417-26.
PubMed (ID: 11378248)
MeSH Terms: Alzheimer Disease/metabolism; Alzheimer Disease/pathology; Basal Nucleus of Meynert/metabolism; Receptors, Estrogen/metabolism - Wilson ME, Rosewell KL, Kashon ML, Shughrue PJ, Merchenthaler I, Wise PM:
Age differentially influences estrogen receptor-alpha (ERalpha) and estrogen receptor-beta (ERbeta) gene expression in specific regions of the rat brain.
Mech Ageing Dev. 2002; 123: 593-601.
PubMed (ID: 11850023)
MeSH Terms: Aging/genetics; Brain/metabolism; Gene Expression; Receptors, Estrogen/genetics - Herrington DM, Howard TD, Hawkins GA, Reboussin DM, Xu J, Zheng SL, Brosnihan KB, Meyers DA, Bleecker ER:
Estrogen-receptor polymorphisms and effects of estrogen replacement on high-density lipoprotein cholesterol in women with coronary disease.
N Engl J Med. 2002; 346: 967-74.
PubMed (ID: 11919305), doi:10.1056/NEJMoa012952
MeSH Terms: Cholesterol, HDL/blood; Coronary Disease/blood; Estrogen Replacement Therapy; Polymorphism, Genetic; Receptors, Estrogen/genetics - Davis VL, Chan CC, Schoen TJ, Couse JF, Chader GJ, Korach KS:
An estrogen receptor repressor induces cataract formation in transgenic mice.
Proc Natl Acad Sci USA. 2002; 99: 9427-32.
PubMed (ID: 12082175), PubMed Central (ID: PMC123157), doi:10.1073/pnas.132247999
MeSH Terms: Cataract/etiology; Receptors, Estrogen/antagonists & inhibitors; Repressor Proteins/metabolism - Sherwin BB:
Estrogen and cognitive aging in women.
Trends Pharmacol Sci. 2002; 23: 527-34.
PubMed (ID: 12413808)
MeSH Terms: Aging/physiology; Alzheimer Disease/prevention & control; Cognition Disorders/prevention & control; Estrogen Replacement Therapy; Selective Estrogen Receptor Modulators/therapeutic use - Lee K, Jessop H, Suswillo R, Zaman G, Lanyon L:
Endocrinology: bone adaptation requires oestrogen receptor-alpha.
Nature. 2003; 424: 389.
PubMed (ID: 12879058), doi:10.1038/424389a
MeSH Terms: Bone Remodeling; Bone and Bones/metabolism; Receptors, Estrogen/metabolism - Ishunina TA, Kamphorst W, Swaab DF:
Changes in metabolic activity and estrogen receptors in the human medial mamillary nucleus: relation to sex, aging and Alzheimer's disease.
Neurobiol Aging. 2003; 24: 817-28.
PubMed (ID: 12927764)
MeSH Terms: Aging/metabolism; Alzheimer Disease/metabolism; Mamillary Bodies/metabolism; Neurons/metabolism; Receptors, Estrogen/metabolism - Chakraborty TR, Ng L, Gore AC:
Age-related changes in estrogen receptor beta in rat hypothalamus: a quantitative analysis.
Endocrinology. 2003; 144: 4164-71.
PubMed (ID: 12933691)
MeSH Terms: Aging/metabolism; Hypothalamus/metabolism; Receptors, Estrogen/metabolism; Septal Nuclei/metabolism - Khalyfa A, Klinge CM, Hall WC, Zhao X, Miller MM, Wang E:
Transcription profiling of estrogen target genes in young and old mouse uterus.
Exp Gerontol. 2003; 38: 1087-99.
PubMed (ID: 14580862)
MeSH Terms: Aging/genetics; Repressor Proteins/genetics; Uterus/physiology - Williamson DG, Song MM:
Age-associated changes in the estrogen receptor-active proteases of female rabbit liver.
Biochem Cell Biol. 1990; 68: 1065-70.
PubMed (ID: 2223016)
MeSH Terms: Aging/metabolism; Endopeptidases/metabolism; Liver/enzymology; Receptors, Estrogen/metabolism - Shearman AM, Cupples LA, Demissie S, Peter I, Schmid CH, Karas RH, Mendelsohn ME, Housman DE, Levy D:
Association between estrogen receptor alpha gene variation and cardiovascular disease.
JAMA. 2003; 290: 2263-70.
PubMed (ID: 14600184), doi:10.1001/jama.290.17.2263
MeSH Terms: Cardiovascular Diseases/epidemiology; Cardiovascular Diseases/genetics; Polymorphism, Genetic; Receptors, Estrogen/genetics - Li LC, Shiina H, Deguchi M, Zhao H, Okino ST, Kane CJ, Carroll PR, Igawa M, Dahiya R:
Age-dependent methylation of ESR1 gene in prostate cancer.
Biochem Biophys Res Commun. 2004; 321: 455-61.
PubMed (ID: 15358197), doi:10.1016/j.bbrc.2004.06.164
MeSH Terms: Aging/physiology; DNA Methylation; Prostatic Neoplasms/genetics; Receptors, Estrogen/genetics - Jiang M, Huhtaniemi I:
Polymorphisms in androgen and estrogen receptor genes: effects on male aging.
Exp Gerontol. 2004; 39: 1603-11.
PubMed (ID: 15582276), doi:10.1016/j.exger.2004.06.017
MeSH Terms: Aging/genetics; Gender Identity; Polymorphism, Genetic; Receptors, Androgen/genetics; Receptors, Estrogen/genetics - Sharma PK, Thakur MK:
Estrogen receptor alpha expression in mice kidney shows sex differences during aging.
Biogerontology. 2004; 5: 375-81.
PubMed (ID: 15609101), doi:10.1007/s10522-004-3191-6
MeSH Terms: Aging/metabolism; Estrogen Receptor alpha/metabolism; Kidney/metabolism; Sex Factors - Toran-Allerand CD, Miranda RC, Bentham WD, Sohrabji F, Brown TJ, Hochberg RB, MacLusky NJ:
Estrogen receptors colocalize with low-affinity nerve growth factor receptors in cholinergic neurons of the basal forebrain.
Proc Natl Acad Sci USA. 1992; 89: 4668-72.
PubMed (ID: 1316615), PubMed Central (ID: PMC49144)
MeSH Terms: Choline O-Acetyltransferase/metabolism; Neurons/metabolism; Prosencephalon/metabolism; Receptors, Cell Surface/metabolism; Receptors, Estrogen/metabolism - Korach KS:
Insights from the study of animals lacking functional estrogen receptor.
Science. 1994; 266: 1524-7.
PubMed (ID: 7985022)
MeSH Terms: Estrogens/physiology; Receptors, Estrogen/physiology - Bigsby RM, Cardenas H, Caperell-Grant A, Grubbs CJ:
Protective effects of estrogen in a rat model of age-related cataracts.
Proc Natl Acad Sci USA. 1999; 96: 9328-32.
PubMed (ID: 10430942), PubMed Central (ID: PMC17782)
MeSH Terms: Cataract/physiopathology; Cataract/prevention & control; Estradiol/therapeutic use; Estrone/therapeutic use; Lens, Crystalline/pathology - Couse JF, Hewitt SC, Bunch DO, Sar M, Walker VR, Davis BJ, Korach KS:
Postnatal sex reversal of the ovaries in mice lacking estrogen receptors alpha and beta.
Science. 1999; 286: 2328-31.
PubMed (ID: 10600740)
MeSH Terms: Disorders of Sex Development; Molecular Chaperones; Ovary/anatomy & histology; Ovary/physiology; Receptors, Estrogen/physiology - Kyo S, Takakura M, Kanaya T, Zhuo W, Fujimoto K, Nishio Y, Orimo A, Inoue M:
Estrogen activates telomerase.
Cancer Res. 1999; 59: 5917-21.
PubMed (ID: 10606235)
MeSH Terms: Estradiol/pharmacology; Promoter Regions, Genetic; Telomerase/genetics; Telomerase/metabolism - Heine PA, Taylor JA, Iwamoto GA, Lubahn DB, Cooke PS:
Increased adipose tissue in male and female estrogen receptor-alpha knockout mice.
Proc Natl Acad Sci USA. 2000; 97: 12729-34.
PubMed (ID: 11070086), PubMed Central (ID: PMC18832), doi:10.1073/pnas.97.23.12729
MeSH Terms: Adipose Tissue/physiology; Receptors, Estrogen/physiology - Atanassova N, McKinnell C, Williams K, Turner KJ, Fisher JS, Saunders PT, Millar MR, Sharpe RM:
Age-, cell- and region-specific immunoexpression of estrogen receptor alpha (but not estrogen receptor beta) during postnatal development of the epididymis and vas deferens of the rat and disruption of this pattern by neonatal treatment with diethylstilbestrol.
Endocrinology. 2001; 142: 874-86.
PubMed (ID: 11159861)
MeSH Terms: Aging/metabolism; Animals, Newborn/metabolism; Diethylstilbestrol/pharmacology; Epididymis/metabolism; Estrogens, Non-Steroidal/pharmacology; Receptors, Estrogen/metabolism; Vas Deferens/metabolism
Sources
Ageing-related Data Sources
- AgeFactDB Homology Analysis
- GenAge
Additional Data Sources
- AgeFactDB Pipeline
- GPSDB
- HomoloGene
- NCBI Taxonomy
- PubMed
- UniProtKB/Swiss-Prot
- UniProtKB/TrEMBL