ENSG00000091831


Homo sapiens

Features
Gene ID: ENSG00000091831
  
Biological name :ESR1
  
Synonyms : ESR1 / estrogen receptor 1 / P03372
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q25.1
Gene start: 151656691
Gene end: 152129619
  
Corresponding Affymetrix probe sets: 205225_at (Human Genome U133 Plus 2.0 Array)   211233_x_at (Human Genome U133 Plus 2.0 Array)   211234_x_at (Human Genome U133 Plus 2.0 Array)   211235_s_at (Human Genome U133 Plus 2.0 Array)   211627_x_at (Human Genome U133 Plus 2.0 Array)   215551_at (Human Genome U133 Plus 2.0 Array)   215552_s_at (Human Genome U133 Plus 2.0 Array)   217163_at (Human Genome U133 Plus 2.0 Array)   217190_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000411105
Ensembl peptide - ENSP00000405330
Ensembl peptide - ENSP00000415934
Ensembl peptide - ENSP00000491412
Ensembl peptide - ENSP00000206249
Ensembl peptide - ENSP00000342630
Ensembl peptide - ENSP00000384064
Ensembl peptide - ENSP00000385373
Ensembl peptide - ENSP00000387500
Ensembl peptide - ENSP00000394721
Ensembl peptide - ENSP00000401995
NCBI entrez gene - 2099     See in Manteia.
OMIM - 133430
RefSeq - XM_017010383
RefSeq - NM_001291230
RefSeq - NM_001291241
RefSeq - NM_001328100
RefSeq - XM_006715374
RefSeq - XM_006715375
RefSeq - XM_011535543
RefSeq - XM_011535544
RefSeq - XM_011535545
RefSeq - XM_011535547
RefSeq - XM_017010376
RefSeq - XM_017010377
RefSeq - XM_017010378
RefSeq - XM_017010379
RefSeq - XM_017010380
RefSeq - XM_017010381
RefSeq - XM_017010382
RefSeq - NM_000125
RefSeq - NM_001122740
RefSeq - NM_001122741
RefSeq - NM_001122742
RefSeq Peptide - NP_001315029
RefSeq Peptide - NP_000116
RefSeq Peptide - NP_001116212
RefSeq Peptide - NP_001116213
RefSeq Peptide - NP_001116214
RefSeq Peptide - NP_001278159
RefSeq Peptide - NP_001278170
swissprot - B0QYW7
swissprot - A0A1W2PP92
swissprot - Q9UE35
swissprot - G4XH65
swissprot - H0Y4W6
swissprot - P03372
swissprot - Q5T5H8
swissprot - Q9H2M1
swissprot - Q9H2M2
Ensembl - ENSG00000091831
  
Related genetic diseases (OMIM): 615363 - Estrogen resistance, 615363
  133430 - {Atherosclerosis, susceptibility to}
  114480 - {Breast cancer}, 114480
  157300 - {Migraine, susceptibility to}, 157300
  608446 - {Myocardial infarction, susceptibility to}, 608446

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 esr1ENSDARG00000004111Danio rerio
 ESR1ENSGALG00000012973Gallus gallus
 Esr1ENSMUSG00000019768Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ESR2 / Q92731 / estrogen receptor 2ENSG0000014000943
ESRRG / P62508 / estrogen related receptor gammaENSG0000019648226
ESRRB / O95718 / estrogen related receptor betaENSG0000011971526
ESRRA / P11474 / estrogen related receptor alphaENSG0000017315325
PGR / P06401 / progesterone receptorENSG0000008217522
NR3C2 / P08235 / nuclear receptor subfamily 3 group C member 2ENSG0000015162321
NR3C1 / P04150 / nuclear receptor subfamily 3 group C member 1ENSG0000011358020
NR4A1 / P22736 / nuclear receptor subfamily 4 group A member 1ENSG0000012335819
AR / P10275 / androgen receptorENSG0000016908319
NR4A2 / P43354 / nuclear receptor subfamily 4 group A member 2ENSG0000015323419
NR4A3 / Q92570 / nuclear receptor subfamily 4 group A member 3ENSG0000011950818


Protein motifs (from Interpro)
Interpro ID Name
 IPR000536  Nuclear hormone receptor, ligand-binding domain
 IPR001292  Oestrogen receptor
 IPR001628  Zinc finger, nuclear hormone receptor-type
 IPR001723  Nuclear hormone receptor
 IPR013088  Zinc finger, NHR/GATA-type
 IPR024178  Oestrogen receptor/oestrogen-related receptor
 IPR024736  Oestrogen-type nuclear receptor final C-terminal domain
 IPR035500  Nuclear hormone receptor-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0001547 antral ovarian follicle growth IEA
 biological_processGO:0002064 epithelial cell development IEA
 biological_processGO:0006338 chromatin remodeling NAS
 biological_processGO:0006351 transcription, DNA-templated TAS
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II TAS
 biological_processGO:0006366 transcription by RNA polymerase II IDA
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway ISS
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration ISS
 biological_processGO:0008209 androgen metabolic process IEA
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0010629 negative regulation of gene expression IDA
 biological_processGO:0010863 positive regulation of phospholipase C activity ISS
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0030111 regulation of Wnt signaling pathway TAS
 biological_processGO:0030518 intracellular steroid hormone receptor signaling pathway ISS
 biological_processGO:0030520 intracellular estrogen receptor signaling pathway IDA
 biological_processGO:0030522 intracellular receptor signaling pathway IEA
 biological_processGO:0032355 response to estradiol IDA
 biological_processGO:0033146 regulation of intracellular estrogen receptor signaling pathway TAS
 biological_processGO:0034121 regulation of toll-like receptor signaling pathway IEA
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling IDA
 biological_processGO:0043401 steroid hormone mediated signaling pathway IEA
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IDA
 biological_processGO:0043627 response to estrogen IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045899 positive regulation of RNA polymerase II transcriptional preinitiation complex assembly IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0048146 positive regulation of fibroblast proliferation IEA
 biological_processGO:0048863 stem cell differentiation IEA
 biological_processGO:0050727 regulation of inflammatory response IEA
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity IDA
 biological_processGO:0051897 positive regulation of protein kinase B signaling TAS
 biological_processGO:0060065 uterus development IEA
 biological_processGO:0060068 vagina development IEA
 biological_processGO:0060523 prostate epithelial cord elongation IEA
 biological_processGO:0060527 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis IEA
 biological_processGO:0060687 regulation of branching involved in prostate gland morphogenesis IEA
 biological_processGO:0060745 mammary gland branching involved in pregnancy IEA
 biological_processGO:0060749 mammary gland alveolus development IEA
 biological_processGO:0060750 epithelial cell proliferation involved in mammary gland duct elongation IEA
 biological_processGO:0071168 protein localization to chromatin IMP
 biological_processGO:0071391 cellular response to estrogen stimulus IEA
 biological_processGO:0071392 cellular response to estradiol stimulus IDA
 biological_processGO:1903799 negative regulation of production of miRNAs involved in gene silencing by miRNA IMP
 cellular_componentGO:0000790 nuclear chromatin IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane NAS
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032991 protein-containing complex IMP
 cellular_componentGO:0035327 transcriptionally active chromatin IDA
 cellular_componentGO:0097550 transcriptional preinitiation complex IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001046 core promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001093 TFIIB-class transcription factor binding IPI
 molecular_functionGO:0001223 transcription coactivator binding IPI
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity NAS
 molecular_functionGO:0003707 steroid hormone receptor activity TAS
 molecular_functionGO:0004879 nuclear receptor activity IEA
 molecular_functionGO:0005496 steroid binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008013 beta-catenin binding IPI
 molecular_functionGO:0008134 transcription factor binding IPI
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0017025 TBP-class protein binding IPI
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0030235 nitric-oxide synthase regulator activity NAS
 molecular_functionGO:0030284 estrogen receptor activity IEA
 molecular_functionGO:0030331 estrogen receptor binding IPI
 molecular_functionGO:0034056 estrogen response element binding IDA
 molecular_functionGO:0038052 RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding IGI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS
 molecular_functionGO:0051117 ATPase binding IDA


Pathways (from Reactome)
Pathway description
Nuclear signaling by ERBB4
PIP3 activates AKT signaling
Constitutive Signaling by Aberrant PI3K in Cancer
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
Ovarian tumor domain proteases
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
RUNX1 regulates estrogen receptor mediated transcription
ESR-mediated signaling
RUNX1 regulates transcription of genes involved in WNT signaling
Regulation of RUNX2 expression and activity
Estrogen-dependent gene expression


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000013 Hypoplastic uterus 
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 HP:0000786 Primary amenorrhea 
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 HP:0000833 Glucose intolerance 
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 HP:0000837 Elevated gonadotropins 
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 HP:0000842 Hyperinsulinemia 
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 HP:0000938 Osteopenia "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators]
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0000956 Acanthosis nigricans 
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 HP:0001061 Acne 
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 HP:0001548 Overgrowth 
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 HP:0001677 Coronary artery disease 
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 HP:0002574 Episodic abdominal pain 
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 HP:0002663 Late ossifying epiphyses 
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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0003187 Breast hypoplasia 
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 HP:0003799 Marked delay in bone age 
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 HP:0008187 Absence of secondary sex characteristics 
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 HP:0008197 Absence of pubertal development 
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 HP:0008675 Enlarged polycystic ovaries 
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 HP:0010679 Elevated tissue non-specific alkaline phosphatase "An abnormally increased level of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000127663 KDM4B / O94953 / lysine demethylase 4B  / reaction / complex
 ENSG00000080824 P07900 / HSP90AA1 / heat shock protein 90 alpha family class A member 1  / complex
 ENSG00000126457 PRMT1 / Q99873 / protein arginine methyltransferase 1  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex
 ENSG00000091831 ESR1 / P03372 / estrogen receptor 1  / complex / reaction
 ENSG00000165417 GTF2A1 / P52655 / general transcription factor IIA subunit 1  / complex / reaction
 ENSG00000142453 CARM1 / Q86X55 / coactivator associated arginine methyltransferase 1  / complex / reaction
 ENSG00000171497 PPID / Q08752 / peptidylprolyl isomerase D  / complex
 ENSG00000140009 ESR2 / Q92731 / estrogen receptor 2  / reaction / complex
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000167770 OTUB1 / Q96FW1 / OTU deubiquitinase, ubiquitin aldehyde binding 1  / reaction / complex
 ENSG00000188342 GTF2F2 / P13984 / general transcription factor IIF subunit 2  / complex
 ENSG00000132475 H3F3B / P84243 / H3 histone family member 3B  / complex / reaction
 ENSG00000180573 Q93077 / HIST1H2AC / histone cluster 1 H2A family member c  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex
 ENSG00000275714 P68431 / HIST1H3A / histone cluster 1 H3 family member a  / complex / reaction
 ENSG00000125651 GTF2F1 / P35269 / general transcription factor IIF subunit 1  / complex
 ENSG00000140307 GTF2A2 / P52657 / general transcription factor IIA subunit 2  / reaction / complex
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / reaction / complex
 ENSG00000156802 ATAD2 / Q6PL18 / ATPase family, AAA domain containing 2  / reaction / complex
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / reaction
 ENSG00000183598 Q71DI3 / HIST2H3D / histone cluster 2 H3 family member d  / complex / reaction
 ENSG00000096384 P08238 / HSP90AB1 / heat shock protein 90 alpha family class B member 1  / complex
 ENSG00000110958 PTGES3 / Q15185 / prostaglandin E synthase 3  / complex
 ENSG00000004487 KDM1A / O60341 / lysine demethylase 1A  / complex / reaction
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / complex / reaction
 ENSG00000108654 DDX5 / P17844 / DEAD-box helicase 5  / complex / reaction
 ENSG00000116833 NR5A2 / O00482 / nuclear receptor subfamily 5 group A member 2  / complex
 ENSG00000125931 CITED1 / Q99966 / Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1  / complex / reaction
 ENSG00000129514 FOXA1 / P55317 / forkhead box A1  / complex / reaction
 ENSG00000112592 TBP / P20226 / TATA-box binding protein  / reaction / complex
 ENSG00000130522 JUND / P17535 / JunD proto-oncogene, AP-1 transcription factor subunit  / complex / reaction
 ENSG00000196208 GREB1 / Q4ZG55 / growth regulation by estrogen in breast cancer 1  / reaction / complex
 ENSG00000082175 PGR / P06401 / progesterone receptor  / complex
 ENSG00000136997 MYC / P01106 / MYC proto-oncogene, bHLH transcription factor  / reaction / complex
 ENSG00000178568 ERBB4 / Q15303 / erb-b2 receptor tyrosine kinase 4  / reaction / complex
 ENSG00000129315 CCNT1 / O60563 / cyclin T1  / complex
 ENSG00000115966 ATF2 / P15336 / activating transcription factor 2  / complex
 ENSG00000005339 CREBBP / Q92793 / CREB binding protein  / reaction / complex
 ENSG00000084676 NCOA1 / Q15788 / nuclear receptor coactivator 1  / reaction / complex
 ENSG00000170345 FOS / P01100 / Fos proto-oncogene, AP-1 transcription factor subunit  / complex
 ENSG00000171940 O75362 / ZNF217 / zinc finger protein 217  / complex
 ENSG00000067955 CBFB / Q13951 / core-binding factor beta subunit  / reaction / complex
 ENSG00000159216 RUNX1 / Q01196 / runt related transcription factor 1  / complex / reaction
 ENSG00000107485 GATA3 / P23771 / GATA binding protein 3  / reaction / complex
 ENSG00000125740 FOSB / P53539 / FosB proto-oncogene, AP-1 transcription factor subunit  / reaction / complex
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / complex
 ENSG00000124151 NCOA3 / Q9Y6Q9 / nuclear receptor coactivator 3  / complex / reaction
 ENSG00000136807 CDK9 / P50750 / cyclin dependent kinase 9  / complex
 ENSG00000177606 JUN / P05412 / Jun proto-oncogene, AP-1 transcription factor subunit  / complex






 

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