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UniProtKB - P03372 (ESR1_HUMAN)

Protein

Estrogen receptor

Gene

ESR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 1.20 Publications

Miscellaneous

Selective estrogen receptor modulators (SERMs), such as tamoxifen, raloxifene, toremifene, lasofoxifene, clomifene, femarelle and ormeloxifene, have tissue selective agonistic and antagonistic effects on the estrogen receptor (ER). They interfere with the ER association with coactivators or corepressors, mainly involving the AF-2 domain.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi185 – 250Nuclear receptorPROSITE-ProRule annotationAdd BLAST66
Zinc fingeri185 – 205NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri221 – 245NR C4-typePROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActivator, DNA-binding, Receptor
Biological processTranscription, Transcription regulation
LigandLipid-binding, Metal-binding, Steroid-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-383280 Nuclear Receptor transcription pathway
R-HSA-4090294 SUMOylation of intracellular receptors
R-HSA-5689896 Ovarian tumor domain proteases
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-8866910 TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
R-HSA-8931987 RUNX1 regulates estrogen receptor mediated transcription
R-HSA-8939211 ESR-mediated signaling
R-HSA-8939256 RUNX1 regulates transcription of genes involved in WNT signaling
R-HSA-8939902 Regulation of RUNX2 expression and activity
R-HSA-9018519 Estrogen-dependent gene expression
SignaLinkiP03372
SIGNORiP03372

Protein family/group databases

MoonDBiP03372 Predicted

Chemistry databases

SwissLipidsiSLP:000001568

Names & Taxonomyi

Protein namesi
Recommended name:
Estrogen receptor
Short name:
ER
Alternative name(s):
ER-alpha
Estradiol receptor
Nuclear receptor subfamily 3 group A member 1
Gene namesi
Name:ESR1
Synonyms:ESR, NR3A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000091831.21
HGNCiHGNC:3467 ESR1
MIMi133430 gene
neXtProtiNX_P03372

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Golgi apparatus, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Estrogen resistance (ESTRR)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615363
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070072375Q → H in ESTRR; results in highly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs397509428EnsemblClinVar.1
Natural variantiVAR_078516394R → H in ESTRR; highly decreased estrogen receptor activity. 1 PublicationCorresponds to variant dbSNP:rs1131692059Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi39L → P: Impairs AF-1 transactivation. 1 Publication1
Mutagenesisi43Y → P: Impairs AF-1 transactivation. 1 Publication1
Mutagenesisi104S → A: Loss of cyclin A-dependent induction of transcriptional activation. 1
Mutagenesisi106S → A: Loss of cyclin A-dependent induction of transcriptional activation. 1
Mutagenesisi118S → A: Decreases phosphorylation and transactivation activity. Abolishes AF-1 transactivation. Insensitive to PPP5C inhibition of transactivation activity. 2 Publications1
Mutagenesisi118S → E: Enhances transactivation activity. Enhances interaction with DDX5. Insensitive to PPP5C inhibition of transactivation activity. 2 Publications1
Mutagenesisi260R → A or K: Loss of methylation. 1 Publication1
Mutagenesisi364V → E: Has higher transcriptional activity in the absence of wild type ER. Inhibits transcriptional activity when coexpressed with the wild type receptor. 1 Publication1
Mutagenesisi386I → C: Loss of transmembrane localization, no effect on peripheral membrane localization. Impairs activation of estrogen-induced activation of NOS3 and production of nitric oxide. No effect on binding to ERES. 1 Publication1
Mutagenesisi447C → A: Loss of hormone binding capacity and temperature-sensitive loss in DNA-binding. 1 Publication1
Mutagenesisi539L → A: Abolishes interaction with NCOA1, NCOA2 and NCOA3. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2099
MalaCardsiESR1
MIMi615363 phenotype
OpenTargetsiENSG00000091831
Orphaneti785 Estrogen resistance syndrome
PharmGKBiPA156

Chemistry databases

ChEMBLiCHEMBL206
DrugBankiDB06871 17-METHYL-17-ALPHA-DIHYDROEQUILENIN
DB07708 3-CHLORO-2-(4-HYDROXYPHENYL)-2H-INDAZOL-5-OL
DB07712 3-ETHYL-2-(4-HYDROXYPHENYL)-2H-INDAZOL-5-OL
DB06927 [5-HYDROXY-2-(4-HYDROXYPHENYL)-1-BENZOFURAN-7-YL]ACETONITRILE
DB04468 Afimoxifene
DB01431 Allylestrenol
DB05233 AP1081
DB05338 atamestane-plus-toremifene
DB06401 Bazedoxifene
DB05487 CC-8490
DB05882 CHF 4227
DB00269 Chlorotrianisene
DB00882 Clomifene
DB02715 Compound 18
DB02615 Compound 19
DB03742 Compound 4-D
DB00286 Conjugated Equine Estrogens
DB01406 Danazol
DB00304 Desogestrel
DB00890 Dienestrol
DB00255 Diethylstilbestrol
DB00783 Estradiol
DB01196 Estramustine
DB04573 Estriol
DB00655 Estrone
DB04574 Estrone sulfate
DB00977 Ethinyl Estradiol
DB00823 Ethynodiol diacetate
DB00294 Etonogestrel
DB01185 Fluoxymesterone
DB00947 Fulvestrant
DB01645 Genistein
DB06202 Lasofoxifene
DB00367 Levonorgestrel
DB00603 Medroxyprogesterone acetate
DB01065 Melatonin
DB01357 Mestranol
DB07991 N-[(1R)-3-(4-HYDROXYPHENYL)-1-METHYLPROPYL]-2-(2-PHENYL-1H-INDOL-3-YL)ACETAMIDE
DB01183 Naloxone
DB00957 Norgestimate
DB05662 NP-50301
DB04938 Ospemifene
DB01708 Prasterone
DB00396 Progesterone
DB04575 Quinestrol
DB00481 Raloxifene
DB08773 RALOXIFENE CORE
DB00675 Tamoxifen
DB09070 Tibolone
DB00539 Toremifene
DB01108 Trilostane
GuidetoPHARMACOLOGYi620

Polymorphism and mutation databases

BioMutaiESR1
DMDMi544257

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000536181 – 595Estrogen receptorAdd BLAST595

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi10O-linked (GlcNAc) serineBy similarity1
Modified residuei104Phosphoserine; by CDK21 Publication1
Modified residuei106Phosphoserine; by CDK21 Publication1
Modified residuei118Phosphoserine1 Publication1
Modified residuei167Phosphoserine; by CK21 Publication1
Modified residuei260Asymmetric dimethylarginine; by PRMT11 Publication1
Lipidationi447S-palmitoyl cysteineBy similarity1
Modified residuei537Phosphotyrosine; by Tyr-kinases1 Publication1

Post-translational modificationi

Phosphorylated by cyclin A/CDK2 and CK1. Phosphorylation probably enhances transcriptional activity. Self-association induces phosphorylation. Dephosphorylation at Ser-118 by PPP5C inhibits its transactivation activity. Phosphorylated by LMTK3 in vitro.7 Publications
Glycosylated; contains N-acetylglucosamine, probably O-linked.1 Publication
Ubiquitinated; regulated by LATS1 via DCAF1 it leads to ESR1 proteasomal degradation (PubMed:21602804, PubMed:28068668). Deubiquitinated by OTUB1 (PubMed:19383985).3 Publications
Dimethylated by PRMT1 at Arg-260. The methylation may favor cytoplasmic localization.1 Publication
Palmitoylated (isoform 3). Not biotinylated (isoform 3).1 Publication
Palmitoylated by ZDHHC7 and ZDHHC21. Palmitoylation is required for plasma membrane targeting and for rapid intracellular signaling via ERK and AKT kinases and cAMP generation, but not for signaling mediated by the nuclear hormone receptor.1 Publication

Keywords - PTMi

Glycoprotein, Lipoprotein, Methylation, Palmitate, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP03372
PaxDbiP03372
PeptideAtlasiP03372
PRIDEiP03372
ProteomicsDBi51607
51608 [P03372-2]
51609 [P03372-3]
51610 [P03372-4]

PTM databases

GlyConnecti144
iPTMnetiP03372
PhosphoSitePlusiP03372
SwissPalmiP03372
UniCarbKBiP03372

Expressioni

Tissue specificityi

Widely expressed. Isoform 3 is not expressed in the pituitary gland.1 Publication

Gene expression databases

BgeeiENSG00000091831 Expressed in 152 organ(s), highest expression level in endometrium
CleanExiHS_ESR1
ExpressionAtlasiP03372 baseline and differential
GenevisibleiP03372 HS

Organism-specific databases

HPAiCAB000037
CAB055099
CAB072858
HPA000449
HPA000450

Interactioni

Subunit structurei

Binds DNA as a homodimer. Can form a heterodimer with ESR2. Isoform 3 can probably homodimerize or heterodimerize with isoform 1 and ESR2. Interacts with FOXC2, MAP1S, SLC30A9, UBE1C and NCOA3 coactivator (By similarity). Interacts with EP300; the interaction is estrogen-dependent and enhanced by CITED1. Interacts with CITED1; the interaction is estrogen-dependent. Interacts with NCOA5 and NCOA6 coactivators. Interacts with NCOA7; the interaction is a ligand-inducible. Interacts with PHB2, PELP1 and UBE1C. Interacts with AKAP13. Interacts with CUEDC2. Interacts with KDM5A. Interacts with SMARD1. Interacts with HEXIM1. Interacts with PBXIP1. Interaction with MUC1 is stimulated by 7 beta-estradiol (E2) and enhances ERS1-mediated transcription. Interacts with DNTTIP2, FAM120B and UIMC1. Interacts with isoform 4 of TXNRD1. Interacts with KMT2D/MLL2. Interacts with ATAD2 and this interaction is enhanced by estradiol. Interacts with KIF18A and LDB1. Interacts with RLIM (via C-terminus). Interacts with MACROD1. Interacts with SH2D4A and PLCG. Interaction with SH2D4A blocks binding to PLCG and inhibits estrogen-induced cell proliferation. Interacts with DYNLL1. Interacts with CCDC62 in the presence of estradiol/E2; this interaction seems to enhance the transcription of target genes. Interacts with NR2C1; the interaction prevents homodimerization of ESR1 and suppresses its transcriptional activity and cell growth. Interacts with DNAAF4. Interacts with PRMT2. Interacts with PI3KR1 or PI3KR2, SRC and PTK2/FAK1. Interacts with RBFOX2. Interacts with STK3/MST2 only in the presence of SAV1 and vice-versa. Binds to CSNK1D. Interacts with NCOA2; NCOA2 can interact with ESR1 AF-1 and AF-2 domains simultaneously and mediate their transcriptional synergy. Interacts with DDX5. Interacts with NCOA1; the interaction seems to require a self-association of N-terminal and C-terminal regions. Interacts with ZNF366, DDX17, NFKB1, RELA, SP1 and SP3. Interacts with NRIP1 (By similarity). Interacts with GPER1; the interaction occurs in an estrogen-dependent manner. Interacts with CLOCK and the interaction is stimulated by estrogen. Interacts with BCAS3. Interacts with TRIP4 (ufmylated); estrogen dependent. Interacts with LMTK3; the interaction phosphorylates ESR1 (in vitro) and protects it against proteasomal degradation. Interacts with CCAR2 (via N-terminus) in a ligand-independent manner. Interacts with ZFHX3. Interacts with SFR1 in a ligand-dependent and -independent manner (PubMed:23874500). Interacts with DCAF13, LATS1 and DCAF1; regulates ESR1 ubiquitination and ubiquitin-mediated proteasomal degradation (PubMed:28068668). Interacts (via DNA-binding domain) with POU4F2 (C-terminus); this interaction increases the estrogen receptor ESR1 transcriptional activity in a DNA- and ligand 17-beta-estradiol-independent manner (By similarity). Interacts with ESRRB isoform 1 (PubMed:19755138). Interacts with UBE3A nad WBP2 (PubMed:16772533). Interacts with GTF2B (PubMed:1517211).By similarity60 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself9EBI-78473,EBI-78473
AKAP13Q128023EBI-78473,EBI-1373806
ARID5AQ039899EBI-78473,EBI-948603
ASF1AQ9Y2942EBI-78473,EBI-749553
ASXL1Q8IXJ92EBI-78473,EBI-1646500
Asxl1P595982EBI-78473,EBI-5743705From Mus musculus.
ATAD2Q6PL183EBI-78473,EBI-6598454
BLCAPP629522EBI-78473,EBI-3895726
BRCA1P3839812EBI-78473,EBI-349905
BTF3P20290-25EBI-78473,EBI-1054703
CACUL1Q86Y375EBI-78473,EBI-8168227
CITED1Q999663EBI-78473,EBI-2624951
CUEDC2Q9H4672EBI-78473,EBI-1248228
DNM1LO004292EBI-78473,EBI-724571
EGFRP005334EBI-4309277,EBI-297353
EP300Q094722EBI-78473,EBI-447295
ESR2Q927315EBI-15606245,EBI-78505
FOXO1Q127782EBI-78473,EBI-1108782
GRIP1Q9Y3R02EBI-78473,EBI-5349621
HAX1O001652EBI-78473,EBI-357001
JMJD6Q6NYC18EBI-78473,EBI-8464037
JunP056276EBI-78473,EBI-764369From Mus musculus.
KAT5Q929933EBI-15606245,EBI-399080
KDM6BO150542EBI-78473,EBI-2831260
KMT2DO146863EBI-78473,EBI-996065
LMTK3Q96Q043EBI-78473,EBI-720814
MACROD1Q9BQ694EBI-78473,EBI-5324932
MDM2Q009872EBI-78473,EBI-389668
MYL6P606603EBI-78473,EBI-300817
NCOA1Q157887EBI-78473,EBI-455189
NCOA2Q155965EBI-78473,EBI-81236
NCOA3Q9Y6Q94EBI-78473,EBI-81196
Ncoa6Q9JLI42EBI-78473,EBI-286271From Rattus norvegicus.
NDRG2Q9UN362EBI-78473,EBI-3895741
NFKB1P198383EBI-78473,EBI-697771
NR1H4Q96RI1-32EBI-78473,EBI-10921781
PAGR1Q9BTK65EBI-78473,EBI-2372223
PBXIP1Q96AQ6-15EBI-15606245,EBI-15606280
Pfn1P629623EBI-78473,EBI-647096From Mus musculus.
PGRP0640120EBI-78473,EBI-78539
PGRP06401-14EBI-78473,EBI-12590474
PHB2Q996234EBI-78473,EBI-358348
PIK3R1P279867EBI-78473,EBI-79464
PPP5CP530414EBI-78473,EBI-716663
PRMT2P553459EBI-78473,EBI-78458
RAC3P607635EBI-78473,EBI-767084
RBFOX2O432514EBI-78473,EBI-746056
RELAQ042067EBI-78473,EBI-73886
SAFB2Q141512EBI-78473,EBI-352869
SENP5Q96HI02EBI-78473,EBI-3895753
SHC1P293532EBI-4309277,EBI-78835
SP1P080472EBI-78473,EBI-298336
SP3Q024472EBI-78473,EBI-348158
SRCP005232EBI-78473,EBI-848039From Gallus gallus.
SRCP1293112EBI-78473,EBI-621482
TRIM24O151643EBI-78473,EBI-2130378
TXNRD1Q16881-44EBI-78473,EBI-9080335
UXTQ9UBK92EBI-78473,EBI-357355
ZNF366Q8N8956EBI-78473,EBI-2813661

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108403, 732 interactors
CORUMiP03372
DIPiDIP-5965N
ELMiP03372
IntActiP03372, 476 interactors
MINTiP03372
STRINGi9606.ENSP00000206249

Chemistry databases

BindingDBiP03372

Structurei

Secondary structure

1595
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

DisProtiDP00074
ProteinModelPortaliP03372
SMRiP03372
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP03372

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini311 – 547NR LBDPROSITE-ProRule annotationAdd BLAST237

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 184Modulating (transactivation AF-1); mediates interaction with MACROD11 PublicationAdd BLAST184
Regioni35 – 174Interaction with DDX5; self-associationAdd BLAST140
Regioni35 – 47Required for interaction with NCOA1Add BLAST13
Regioni185 – 310Mediates interaction with DNTTIP21 PublicationAdd BLAST126
Regioni251 – 310HingeAdd BLAST60
Regioni262 – 595Interaction with AKAP131 PublicationAdd BLAST334
Regioni264 – 595Self-associationAdd BLAST332
Regioni311 – 595Transactivation AF-2Add BLAST285

Domaini

Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain. The modulating domain, also known as A/B or AF-1 domain has a ligand-independent transactivation function. The C-terminus contains a ligand-dependent transactivation domain, also known as E/F or AF-2 domain which overlaps with the ligand binding domain. AF-1 and AF-2 activate transcription independently and synergistically and act in a promoter- and cell-specific manner. AF-1 seems to provide the major transactivation function in differentiated cells.

Sequence similaritiesi

Belongs to the nuclear hormone receptor family. NR3 subfamily.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri185 – 205NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri221 – 245NR C4-typePROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Transmembrane, Zinc-finger

Phylogenomic databases

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00760000118887
HOVERGENiHBG108344
InParanoidiP03372
KOiK08550
OMAiEAGPPAF
OrthoDBiEOG091G03V4
PhylomeDBiP03372
TreeFamiTF323751

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR024178 Oest_rcpt/oest-rel_rcp
IPR001292 Oestr_rcpt
IPR024736 Oestrogen-typ_rcpt_final_C_dom
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PfamiView protein in Pfam
PF12743 ESR1_C, 1 hit
PF00104 Hormone_recep, 1 hit
PF02159 Oest_recep, 1 hit
PF00105 zf-C4, 1 hit
PIRSFiPIRSF500101 ER-a, 1 hit
PIRSF002527 ER-like_NR, 1 hit
PRINTSiPR00543 OESTROGENR
PR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: P03372-1) [UniParc]FASTAAdd to basket
Also known as: Long, hER-alpha66, ER66

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTMTLHTKAS GMALLHQIQG NELEPLNRPQ LKIPLERPLG EVYLDSSKPA 
        60         70         80         90        100
VYNYPEGAAY EFNAAAAANA QVYGQTGLPY GPGSEAAAFG SNGLGGFPPL 
       110        120        130        140        150
NSVSPSPLML LHPPPQLSPF LQPHGQQVPY YLENEPSGYT VREAGPPAFY 
       160        170        180        190        200
RPNSDNRRQG GRERLASTND KGSMAMESAK ETRYCAVCND YASGYHYGVW 
       210        220        230        240        250
SCEGCKAFFK RSIQGHNDYM CPATNQCTID KNRRKSCQAC RLRKCYEVGM 
       260        270        280        290        300
MKGGIRKDRR GGRMLKHKRQ RDDGEGRGEV GSAGDMRAAN LWPSPLMIKR 
       310        320        330        340        350
SKKNSLALSL TADQMVSALL DAEPPILYSE YDPTRPFSEA SMMGLLTNLA 
       360        370        380        390        400
DRELVHMINW AKRVPGFVDL TLHDQVHLLE CAWLEILMIG LVWRSMEHPG 
       410        420        430        440        450
KLLFAPNLLL DRNQGKCVEG MVEIFDMLLA TSSRFRMMNL QGEEFVCLKS 
       460        470        480        490        500
IILLNSGVYT FLSSTLKSLE EKDHIHRVLD KITDTLIHLM AKAGLTLQQQ 
       510        520        530        540        550
HQRLAQLLLI LSHIRHMSNK GMEHLYSMKC KNVVPLYDLL LEMLDAHRLH 
       560        570        580        590 
APTSRGGASV EETDQSHLAT AGSTSSHSLQ KYYITGEAEG FPATV
Length:595
Mass (Da):66,216
Last modified:June 1, 1994 - v2
Checksum:i5455C57AB0CCCAA7
GO
Isoform 2 (identifier: P03372-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     255-366: Missing.

Note: No experimental confirmation available.
Show »
Length:483
Mass (Da):53,687
Checksum:i449BC03EF22E80A5
GO
Isoform 3 (identifier: P03372-3) [UniParc]FASTAAdd to basket
Also known as: hER-alpha46, ER46

The sequence of this isoform differs from the canonical sequence as follows:
     1-173: Missing.

Note: Produced by alternative promoter usage.
Show »
Length:422
Mass (Da):47,629
Checksum:iC51DF9A9644127C0
GO
Isoform 4 (identifier: P03372-4) [UniParc]FASTAAdd to basket
Also known as: hER-alpha36, ER36

The sequence of this isoform differs from the canonical sequence as follows:
     1-173: Missing.
     458-595: VYTFLSSTLK...GEAEGFPATV → FTISHVEAKKRILNLHPKIFGNKWFPRV

Note: Produced by alternative splicing of isoform 3.
Show »
Length:312
Mass (Da):35,547
Checksum:i85C8DEAD873F9AEC
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y4W6H0Y4W6_HUMAN
Estrogen receptor
ESR1
310Annotation score:
Q9H2M1Q9H2M1_HUMAN
Estrogen receptor alpha
ESR1
334Annotation score:
B0QYW7B0QYW7_HUMAN
Estrogen receptor
ESR1
107Annotation score:
Q9UE35Q9UE35_HUMAN
Estrogen receptor protein
ESR1 estrogen receptor
115Annotation score:
Q9H2M2Q9H2M2_HUMAN
Estrogen receptor alpha
ESR1
152Annotation score:
Q5T5H8Q5T5H8_HUMAN
Estrogen receptor
ESR1
84Annotation score:
A0A1W2PP92A0A1W2PP92_HUMAN
Estrogen receptor
ESR1
44Annotation score:

Sequence cautioni

The sequence AAB00115 differs from that shown. contains an in-frame duplication of exons 6 and 7.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti452I → L in CAE45969 (PubMed:17974005).Curated1

Polymorphismi

Genetic variations in ESR1 are correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disruption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0330286H → Y in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs139960913Ensembl.1
Natural variantiVAR_01890577G → S. Corresponds to variant dbSNP:rs9340773Ensembl.1
Natural variantiVAR_004671160G → C1 PublicationCorresponds to variant dbSNP:rs149308960Ensembl.1
Natural variantiVAR_033029264M → I in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_070072375Q → H in ESTRR; results in highly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs397509428EnsemblClinVar.1
Natural variantiVAR_078516394R → H in ESTRR; highly decreased estrogen receptor activity. 1 PublicationCorresponds to variant dbSNP:rs1131692059Ensembl.1
Natural variantiVAR_004673400G → V Destabilizes the receptor and decreases its affinity for estradiol at 25 degrees Celsius, but not at 4 degrees Celsius. 3 Publications1
Natural variantiVAR_010143411D → RNQGKCVEGMVEIFDMLLAT SSRFRMMNLQGEEFVCLKSI ILLNSGVYTFLSSTLKSLEE KDHIHRVLDKITDTLIHLMA KAGLTLQQQHQRLAQLLLIL SHIRHM in a 80 kDa form found in a breast cancer line; contains an in-frame duplication of exons 6 and 7. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0424601 – 173Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST173
Alternative sequenceiVSP_003680255 – 366Missing in isoform 2. 1 PublicationAdd BLAST112
Alternative sequenceiVSP_042461458 – 595VYTFL…FPATV → FTISHVEAKKRILNLHPKIF GNKWFPRV in isoform 4. 2 PublicationsAdd BLAST138

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X03635 mRNA Translation: CAA27284.1
M12674 mRNA Translation: AAA52399.1
U47678 mRNA Translation: AAB00115.1 Sequence problems.
AY425004 Genomic DNA Translation: AAQ91815.1
BX640939 mRNA Translation: CAE45969.1
AL049821 Genomic DNA No translation available.
AL078582 Genomic DNA No translation available.
AL356311 Genomic DNA No translation available.
AL590993 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47740.1
BC128573 mRNA Translation: AAI28574.1
BC128574 mRNA Translation: AAI28575.1
AH008151 Genomic DNA Translation: AAD52984.1
X73067 mRNA Translation: CAA51528.1
Z75126 mRNA Translation: CAA99436.1
CCDSiCCDS5234.1 [P03372-1]
PIRiS64737
RefSeqiNP_000116.2, NM_000125.3 [P03372-1]
NP_001116212.1, NM_001122740.1 [P03372-1]
NP_001116213.1, NM_001122741.1 [P03372-1]
NP_001116214.1, NM_001122742.1 [P03372-1]
NP_001278159.1, NM_001291230.1
NP_001278170.1, NM_001291241.1
NP_001315029.1, NM_001328100.1
XP_006715438.1, XM_006715375.3 [P03372-3]
XP_011533845.1, XM_011535543.2 [P03372-1]
XP_011533846.1, XM_011535544.2 [P03372-1]
XP_011533847.1, XM_011535545.2 [P03372-1]
XP_016865865.1, XM_017010376.1 [P03372-1]
XP_016865866.1, XM_017010377.1 [P03372-1]
XP_016865867.1, XM_017010378.1 [P03372-1]
XP_016865868.1, XM_017010379.1 [P03372-1]
XP_016865869.1, XM_017010380.1 [P03372-1]
XP_016865870.1, XM_017010381.1 [P03372-1]
UniGeneiHs.208124
Hs.744830

Genome annotation databases

EnsembliENST00000206249; ENSP00000206249; ENSG00000091831 [P03372-1]
ENST00000338799; ENSP00000342630; ENSG00000091831 [P03372-1]
ENST00000440973; ENSP00000405330; ENSG00000091831 [P03372-1]
ENST00000443427; ENSP00000387500; ENSG00000091831 [P03372-1]
GeneIDi2099
KEGGihsa:2099
UCSCiuc003qom.5 human [P03372-1]

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs
Wikipedia

Estrogen receptor entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X03635 mRNA Translation: CAA27284.1
M12674 mRNA Translation: AAA52399.1
U47678 mRNA Translation: AAB00115.1 Sequence problems.
AY425004 Genomic DNA Translation: AAQ91815.1
BX640939 mRNA Translation: CAE45969.1
AL049821 Genomic DNA No translation available.
AL078582 Genomic DNA No translation available.
AL356311 Genomic DNA No translation available.
AL590993 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47740.1
BC128573 mRNA Translation: AAI28574.1
BC128574 mRNA Translation: AAI28575.1
AH008151 Genomic DNA Translation: AAD52984.1
X73067 mRNA Translation: CAA51528.1
Z75126 mRNA Translation: CAA99436.1
CCDSiCCDS5234.1 [P03372-1]
PIRiS64737
RefSeqiNP_000116.2, NM_000125.3 [P03372-1]
NP_001116212.1, NM_001122740.1 [P03372-1]
NP_001116213.1, NM_001122741.1 [P03372-1]
NP_001116214.1, NM_001122742.1 [P03372-1]
NP_001278159.1, NM_001291230.1
NP_001278170.1, NM_001291241.1
NP_001315029.1, NM_001328100.1
XP_006715438.1, XM_006715375.3 [P03372-3]
XP_011533845.1, XM_011535543.2 [P03372-1]
XP_011533846.1, XM_011535544.2 [P03372-1]
XP_011533847.1, XM_011535545.2 [P03372-1]
XP_016865865.1, XM_017010376.1 [P03372-1]
XP_016865866.1, XM_017010377.1 [P03372-1]
XP_016865867.1, XM_017010378.1 [P03372-1]
XP_016865868.1, XM_017010379.1 [P03372-1]
XP_016865869.1, XM_017010380.1 [P03372-1]
XP_016865870.1, XM_017010381.1 [P03372-1]
UniGeneiHs.208124
Hs.744830

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1A52X-ray2.80A/B297-554[»]
1AKFmodel-A309-547[»]
1EREX-ray3.10A/B/C/D/E/F301-553[»]
1ERRX-ray2.60A/B301-553[»]
1G50X-ray2.90A/B/C304-550[»]
1GWQX-ray2.45A/B301-548[»]
1GWRX-ray2.40A/B305-549[»]
1HCPNMR-A180-254[»]
1HCQX-ray2.40A/B/E/F180-262[»]
1L2IX-ray1.95A/B297-554[»]
1PCGX-ray2.70A/B304-547[»]
1QKTX-ray2.20A304-551[»]
1QKUX-ray3.20A/B/C301-550[»]
1R5KX-ray2.70A/B/C297-554[»]
1SJ0X-ray1.90A307-554[»]
1UOMX-ray2.28A301-553[»]
1X7EX-ray2.80A/B305-549[»]
1X7RX-ray2.00A305-549[»]
1XP1X-ray1.80A307-554[»]
1XP6X-ray1.70A307-554[»]
1XP9X-ray1.80A307-554[»]
1XPCX-ray1.60A307-554[»]
1XQCX-ray2.05A/B/C/D301-553[»]
1YIMX-ray1.90A307-554[»]
1YINX-ray2.20A307-554[»]
1ZKYX-ray2.25A/B298-554[»]
2AYRX-ray1.90A304-551[»]
2B1VX-ray1.80A/B298-554[»]
2B1ZX-ray1.78A/B298-554[»]
2B23X-ray2.10A/B298-554[»]
2BJ4X-ray2.00A/B305-533[»]
2FAIX-ray2.10A/B298-554[»]
2G44X-ray2.65A/B298-554[»]
2G5OX-ray2.30A/B298-554[»]
2I0JX-ray2.90A/B/C/D304-547[»]
2IOGX-ray1.60A309-554[»]
2IOKX-ray2.40A/B301-554[»]
2JF9X-ray2.10A/B/C304-533[»]
2JFAX-ray2.55A/B304-533[»]
2LLONMR-B287-305[»]
2LLQNMR-B287-305[»]
2OCFX-ray2.95A298-595[»]
2OUZX-ray2.00A301-553[»]
2P15X-ray1.94A/B298-554[»]
2POGX-ray1.84A/B304-551[»]
2Q6JX-ray2.70A/B298-554[»]
2Q70X-ray1.95A/B304-551[»]
2QA6X-ray2.60A/B298-554[»]
2QA8X-ray1.85A/B298-554[»]
2QABX-ray1.89A/B298-554[»]
2QE4X-ray2.40A/B304-551[»]
2QGTX-ray2.15A/B298-554[»]
2QGWX-ray2.39A/B298-554[»]
2QH6X-ray2.70A/B298-554[»]
2QR9X-ray2.00A/B298-554[»]
2QSEX-ray1.85A/B298-554[»]
2QXMX-ray2.30A/B298-554[»]
2QXSX-ray1.70A/B298-554[»]
2QZOX-ray1.72A/B298-554[»]
2R6WX-ray2.00A/B304-551[»]
2R6YX-ray2.00A/B304-551[»]
2YATX-ray2.60A301-551[»]
2YJAX-ray1.82B299-551[»]
3CBMX-ray1.69B298-307[»]
3CBOX-ray1.65B298-307[»]
3CBPX-ray1.42B298-307[»]
3DT3X-ray2.40A/B299-551[»]
3ERDX-ray2.03A/B297-554[»]
3ERTX-ray1.90A297-554[»]
3HLVX-ray3.00A/B298-550[»]
3HM1X-ray2.33A/B298-550[»]
3L03X-ray1.90A/B298-550[»]
3OS8X-ray2.03A/B/C/D299-553[»]
3OS9X-ray2.30A/B/C/D299-553[»]
3OSAX-ray2.30A/B/C/D299-553[»]
3Q95X-ray2.05A/B298-554[»]
3UU7X-ray2.20A/B302-552[»]
3UUAX-ray2.05A/B302-552[»]
3UUCX-ray2.10A/B/C/D302-552[»]
3UUDX-ray1.60A/B302-552[»]
4AA6X-ray2.60A/B/E/F182-252[»]
4DMAX-ray2.30A/B303-549[»]
4IU7X-ray2.29A/B303-549[»]
4IUIX-ray2.30A/B303-549[»]
4IV2X-ray2.14A/B303-549[»]
4IV4X-ray2.30A/B303-549[»]
4IVWX-ray2.06A/B303-549[»]
4IVYX-ray1.95A/B303-549[»]
4IW6X-ray1.98A/B303-549[»]
4IW8X-ray2.04A/B303-549[»]
4IWCX-ray2.24A/B303-549[»]
4IWFX-ray1.93A/B303-549[»]
4JC3X-ray2.05B585-595[»]
4JDDX-ray2.10B585-595[»]
4MG5X-ray2.05A/B302-552[»]
4MG6X-ray2.10A/B302-552[»]
4MG7X-ray2.15A/B302-552[»]
4MG8X-ray1.85A/B302-552[»]
4MG9X-ray2.00A/B302-552[»]
4MGAX-ray1.80A/B302-552[»]
4MGBX-ray1.85A/B302-552[»]
4MGCX-ray2.15A/B302-552[»]
4MGDX-ray1.90A/B302-552[»]
4O6FX-ray2.82B261-271[»]
4PP6X-ray2.20A/B305-548[»]
4PPPX-ray2.69A/B305-548[»]
4PPSX-ray1.93A/B305-548[»]
4PXMX-ray1.90A/B299-554[»]
4Q13X-ray2.24A/B299-554[»]
4Q50X-ray3.07A/B/C/D/E/F/G/H299-554[»]
4TUZX-ray1.90A/B302-552[»]
4TV1X-ray1.85A/B302-552[»]
4XI3X-ray2.49A/B/C/D306-548[»]
4ZN7X-ray1.93A/B301-559[»]
4ZN9X-ray2.21A/B301-559[»]
4ZNHX-ray1.93A/B301-559[»]
4ZNSX-ray1.86A/B301-559[»]
4ZNTX-ray1.90A/B301-559[»]
4ZNUX-ray2.40A/B301-559[»]
4ZNVX-ray1.77A/B301-559[»]
4ZNWX-ray2.31A/B301-559[»]
5AAUX-ray1.90A/B307-554[»]
5AAVX-ray1.95A307-554[»]
B306-554[»]
5ACCX-ray1.88A307-554[»]
5AK2X-ray2.19A/B307-554[»]
5DI7X-ray2.24A/B298-554[»]
5DIDX-ray2.24A/B298-554[»]
5DIEX-ray2.24A/B298-554[»]
5DIGX-ray2.24A/B298-554[»]
5DK9X-ray2.28A/B298-554[»]
5DKBX-ray2.40A/B298-554[»]
5DKEX-ray2.60A/B298-554[»]
5DKGX-ray2.15A/B298-554[»]
5DKSX-ray2.60A/B298-554[»]
5DL4X-ray2.10A/B298-554[»]
5DLRX-ray2.26A/B298-554[»]
5DMCX-ray2.40A/B298-554[»]
5DMFX-ray2.40A/B298-554[»]
5DP0X-ray2.38A/B298-554[»]
5DRJX-ray2.07A/B298-554[»]
5DRMX-ray2.24A/B298-554[»]
5DTVX-ray2.29A/B298-554[»]
5DU5X-ray2.19A/B298-554[»]
5DUEX-ray2.09A/B298-554[»]
5DUGX-ray2.25A/B298-554[»]
5DUHX-ray2.24A/B298-554[»]
5DVSX-ray2.28A/B298-554[»]
5DVVX-ray2.50A/B298-554[»]
5DWEX-ray1.92A/B298-554[»]
5DWGX-ray2.30A/B298-554[»]
5DWIX-ray2.43A/B298-554[»]
5DWJX-ray2.00A/B298-554[»]
5DX3X-ray2.09A/B297-554[»]
5DXBX-ray2.08A/B297-554[»]
5DXEX-ray1.50A/B297-554[»]
5DXGX-ray1.86A/B297-554[»]
5DXKX-ray2.23A/B298-554[»]
5DXMX-ray2.37A/B298-554[»]
5DXPX-ray2.20A/B298-554[»]
5DXQX-ray2.40A/B298-554[»]
5DXRX-ray2.28A/B298-554[»]
5DY8X-ray2.03A/B298-554[»]
5DYBX-ray2.27A/B298-554[»]
5DYDX-ray2.48A/B298-554[»]
5DZ0X-ray2.24A/B298-554[»]
5DZ1X-ray2.20A/B298-554[»]
5DZ3X-ray2.15A/B298-554[»]
5DZHX-ray2.11A/B298-554[»]
5DZIX-ray1.90A/B298-554[»]
5E0WX-ray2.00A/B298-554[»]
5E0XX-ray2.01A/B298-554[»]
5E14X-ray2.22A/B298-554[»]
5E15X-ray2.10A/B298-554[»]
5E19X-ray2.24A/B298-554[»]
5E1CX-ray1.98A/B298-554[»]
5EGVX-ray2.86A/B298-554[»]
5EHJX-ray2.50A/B298-554[»]
5EI1X-ray2.40A/B298-554[»]
5EITX-ray2.68A/B298-554[»]
5FQPX-ray1.88A307-554[»]
5FQRX-ray1.88A307-554[»]
5FQSX-ray1.94A307-554[»]
5FQTX-ray1.99A307-554[»]
5FQVX-ray1.74A307-554[»]
5GS4X-ray2.40A305-547[»]
5GTRX-ray2.80A305-547[»]
5HYRX-ray2.27A/B302-559[»]
5JMMX-ray2.10A/B302-552[»]
5KCCX-ray2.39A/B298-554[»]
A/B304-549[»]
5KCDX-ray1.82A/B298-554[»]
A/B305-549[»]
5KCEX-ray1.85A/B298-554[»]
A/B303-549[»]
5KCFX-ray2.07A/B298-554[»]
A/B303-549[»]
5KCTX-ray1.60A/B298-554[»]
A/B303-548[»]
5KCUX-ray2.03A/B298-554[»]
A/B303-548[»]
5KCWX-ray1.91A/B303-549[»]
A/B298-554[»]
5KD9X-ray1.78A/B298-554[»]
A/B303-549[»]
5KR9X-ray2.25A/B298-554[»]
5KRAX-ray2.40A/B/E/F298-554[»]
5KRCX-ray2.40A/B298-554[»]
5KRFX-ray2.19A/B298-554[»]
5KRHX-ray2.24A/B298-554[»]
5KRIX-ray2.25A/B298-554[»]
5KRJX-ray2.70A/B298-554[»]
5KRKX-ray2.39A/B298-554[»]
5KRLX-ray2.40A/B298-554[»]
5KRMX-ray2.24A/B298-554[»]
5KROX-ray2.10A/B298-554[»]
5N10X-ray1.60C/D/F584-595[»]
5T0XNMR-B/C287-305[»]
5T1ZX-ray2.10A/B298-554[»]
5T92X-ray2.22A/B301-553[»]
5T97X-ray3.00A/B301-553[»]
5TLDX-ray2.38A/B298-554[»]
5TLFX-ray2.20A/B298-554[»]
5TLGX-ray2.23A/B298-554[»]
5TLLX-ray2.42A/B298-554[»]
5TLMX-ray2.50A/B298-554[»]
5TLOX-ray2.28A/B298-554[»]
5TLPX-ray2.08A/B298-554[»]
5TLTX-ray1.90A/B298-554[»]
5TLUX-ray2.22A/B298-554[»]
5TLVX-ray2.32A/B298-554[»]
5TLXX-ray2.10A/B298-554[»]
5TLYX-ray2.14A/B298-554[»]
5TM1X-ray2.23A/B298-554[»]
5TM2X-ray2.60A/B298-554[»]
5TM3X-ray2.19A/B298-554[»]
5TM4X-ray2.25A/B298-554[»]
5TM5X-ray2.24A/B298-554[»]
5TM6X-ray2.54A/B298-554[»]
5TM7X-ray2.40A/B298-554[»]
5TM8X-ray1.99A/B298-554[»]
5TM9X-ray2.50A/B298-554[»]
5TMLX-ray2.25A/B298-554[»]
5TMMX-ray2.20A/B298-554[»]
5TMOX-ray2.17A/B298-554[»]
5TMQX-ray2.24A/B298-554[»]
5TMRX-ray2.30A/B298-554[»]
5TMSX-ray2.24A/B298-554[»]
5TMTX-ray2.05A/B298-554[»]
5TMUX-ray2.43A/B298-554[»]
5TMVX-ray2.38A/B298-554[»]
5TMWX-ray2.29A/B298-554[»]
5TMZX-ray2.21A/B298-554[»]
5TN1X-ray2.06A/B298-554[»]
5TN3X-ray2.54A/B298-554[»]
5TN4X-ray1.86A/B298-554[»]
5TN5X-ray1.89A/B298-554[»]
5TN6X-ray2.09A/B298-554[»]
5TN7X-ray2.24A/B298-554[»]
5TN8X-ray2.65A/B298-554[»]
5TN9X-ray2.25A/B/C/D298-554[»]
5TNBX-ray2.08A/B/C/D298-554[»]
5U2BX-ray2.22A/B/C/D/E/F298-554[»]
5U2DX-ray1.86A/B298-554[»]
5UFWX-ray1.58A/B306-554[»]
5UFXX-ray1.55A/B306-554[»]
5W9CX-ray1.80A/B/C/D306-554[»]
5W9DX-ray1.65A/B306-554[»]
5WGDX-ray1.80A/B297-554[»]
5WGQX-ray2.30A/B297-554[»]
6B0FX-ray2.86A/B301-553[»]
6C42X-ray2.00A/B307-554[»]
6CBZX-ray1.65A/B305-554[»]
6CHWX-ray1.89A306-551[»]
6CHZX-ray1.68A307-554[»]
DisProtiDP00074
ProteinModelPortaliP03372
SMRiP03372
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108403, 732 interactors
CORUMiP03372
DIPiDIP-5965N
ELMiP03372
IntActiP03372, 476 interactors
MINTiP03372
STRINGi9606.ENSP00000206249

Chemistry databases

BindingDBiP03372
ChEMBLiCHEMBL206
DrugBankiDB06871 17-METHYL-17-ALPHA-DIHYDROEQUILENIN
DB07708 3-CHLORO-2-(4-HYDROXYPHENYL)-2H-INDAZOL-5-OL
DB07712 3-ETHYL-2-(4-HYDROXYPHENYL)-2H-INDAZOL-5-OL
DB06927 [5-HYDROXY-2-(4-HYDROXYPHENYL)-1-BENZOFURAN-7-YL]ACETONITRILE
DB04468 Afimoxifene
DB01431 Allylestrenol
DB05233 AP1081
DB05338 atamestane-plus-toremifene
DB06401 Bazedoxifene
DB05487 CC-8490
DB05882 CHF 4227
DB00269 Chlorotrianisene
DB00882 Clomifene
DB02715 Compound 18
DB02615 Compound 19
DB03742 Compound 4-D
DB00286 Conjugated Equine Estrogens
DB01406 Danazol
DB00304 Desogestrel
DB00890 Dienestrol
DB00255 Diethylstilbestrol
DB00783 Estradiol
DB01196 Estramustine
DB04573 Estriol
DB00655 Estrone
DB04574 Estrone sulfate
DB00977 Ethinyl Estradiol
DB00823 Ethynodiol diacetate
DB00294 Etonogestrel
DB01185 Fluoxymesterone
DB00947 Fulvestrant
DB01645 Genistein
DB06202 Lasofoxifene
DB00367 Levonorgestrel
DB00603 Medroxyprogesterone acetate
DB01065 Melatonin
DB01357 Mestranol
DB07991 N-[(1R)-3-(4-HYDROXYPHENYL)-1-METHYLPROPYL]-2-(2-PHENYL-1H-INDOL-3-YL)ACETAMIDE
DB01183 Naloxone
DB00957 Norgestimate
DB05662 NP-50301
DB04938 Ospemifene
DB01708 Prasterone
DB00396 Progesterone
DB04575 Quinestrol
DB00481 Raloxifene
DB08773 RALOXIFENE CORE
DB00675 Tamoxifen
DB09070 Tibolone
DB00539 Toremifene
DB01108 Trilostane
GuidetoPHARMACOLOGYi620
SwissLipidsiSLP:000001568

Protein family/group databases

MoonDBiP03372 Predicted

PTM databases

GlyConnecti144
iPTMnetiP03372
PhosphoSitePlusiP03372
SwissPalmiP03372
UniCarbKBiP03372

Polymorphism and mutation databases

BioMutaiESR1
DMDMi544257

Proteomic databases

EPDiP03372
PaxDbiP03372
PeptideAtlasiP03372
PRIDEiP03372
ProteomicsDBi51607
51608 [P03372-2]
51609 [P03372-3]
51610 [P03372-4]

Protocols and materials databases

DNASUi2099
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000206249; ENSP00000206249; ENSG00000091831 [P03372-1]
ENST00000338799; ENSP00000342630; ENSG00000091831 [P03372-1]
ENST00000440973; ENSP00000405330; ENSG00000091831 [P03372-1]
ENST00000443427; ENSP00000387500; ENSG00000091831 [P03372-1]
GeneIDi2099
KEGGihsa:2099
UCSCiuc003qom.5 human [P03372-1]

Organism-specific databases

CTDi2099
DisGeNETi2099
EuPathDBiHostDB:ENSG00000091831.21
GeneCardsiESR1
HGNCiHGNC:3467 ESR1
HPAiCAB000037
CAB055099
CAB072858
HPA000449
HPA000450
MalaCardsiESR1
MIMi133430 gene
615363 phenotype
neXtProtiNX_P03372
OpenTargetsiENSG00000091831
Orphaneti785 Estrogen resistance syndrome
PharmGKBiPA156
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00760000118887
HOVERGENiHBG108344
InParanoidiP03372
KOiK08550
OMAiEAGPPAF
OrthoDBiEOG091G03V4
PhylomeDBiP03372
TreeFamiTF323751

Enzyme and pathway databases

ReactomeiR-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-383280 Nuclear Receptor transcription pathway
R-HSA-4090294 SUMOylation of intracellular receptors
R-HSA-5689896 Ovarian tumor domain proteases
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-8866910 TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
R-HSA-8931987 RUNX1 regulates estrogen receptor mediated transcription
R-HSA-8939211 ESR-mediated signaling
R-HSA-8939256 RUNX1 regulates transcription of genes involved in WNT signaling
R-HSA-8939902 Regulation of RUNX2 expression and activity
R-HSA-9018519 Estrogen-dependent gene expression
SignaLinkiP03372
SIGNORiP03372

Miscellaneous databases

ChiTaRSiESR1 human
EvolutionaryTraceiP03372
GeneWikiiEstrogen_receptor_alpha
GenomeRNAii2099
PROiPR:P03372
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000091831 Expressed in 152 organ(s), highest expression level in endometrium
CleanExiHS_ESR1
ExpressionAtlasiP03372 baseline and differential
GenevisibleiP03372 HS

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR024178 Oest_rcpt/oest-rel_rcp
IPR001292 Oestr_rcpt
IPR024736 Oestrogen-typ_rcpt_final_C_dom
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PfamiView protein in Pfam
PF12743 ESR1_C, 1 hit
PF00104 Hormone_recep, 1 hit
PF02159 Oest_recep, 1 hit
PF00105 zf-C4, 1 hit
PIRSFiPIRSF500101 ER-a, 1 hit
PIRSF002527 ER-like_NR, 1 hit
PRINTSiPR00543 OESTROGENR
PR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiESR1_HUMAN
AccessioniPrimary (citable) accession number: P03372
Secondary accession number(s): Q13511
, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: June 1, 1994
Last modified: September 12, 2018
This is version 255 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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