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ESR1 estrogen receptor 1 [ Homo sapiens (human) ]

Gene ID: 2099, updated on 15-Sep-2014
Official Symbol
ESR1provided by HGNC
Official Full Name
estrogen receptor 1provided by HGNC
Primary source
HGNC:HGNC:3467
Locus tag
RP1-130E4.1
See related
Ensembl:ENSG00000091831; HPRD:00589; MIM:133430; Vega:OTTHUMG00000016103
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ER; ESR; Era; ESRA; ESTRR; NR3A1
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]
See ESR1 in Epigenomics, MapViewer
Location:
6q25.1
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (151690496..152103274)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (152011631..152424409)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene chromosome 6 open reading frame 211 Neighboring gene coiled-coil domain containing 170 Neighboring gene spectrin repeat containing, nuclear envelope 1 Neighboring gene RNA, 5S ribosomal pseudogene 223 Neighboring gene Nanog homeobox pseudogene 11

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Estrogen resistance
MedGen: C1851467 OMIM: 615363 GeneReviews: Not available
not available
Familial cancer of breast Compare labs
Migraine
MedGen: C0149931 OMIM: 157300 GeneReviews: Not available
Compare labs
Myocardial infarction 1
MedGen: C1838021 OMIM: 608446 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
NHGRI GWA Catalog
Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.
NHGRI GWA Catalog
Genetic variants associated with breast size also influence breast cancer risk.
NHGRI GWA Catalog
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
NHGRI GWA Catalog
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
NHGRI GWA Catalog
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.
NHGRI GWA Catalog
Genome-wide association study identifies five new breast cancer susceptibility loci.
NHGRI GWA Catalog
Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer.
NHGRI GWA Catalog
Genome-wide association study of alcohol dependence.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog
Multiple genetic loci for bone mineral density and fractures.
NHGRI GWA Catalog
New sequence variants associated with bone mineral density.
NHGRI GWA Catalog
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env 17beta-estradiol (17beta-E2) protects human neuroblastoma cells from cell death elicited by HIV-1 gp120; estrogen receptor antagonists antagonize 17beta-E2-mediated inhibition gp120-induced cell death PubMed
Tat tat HIV-1 Tat 47-59 peptide downregulates gene expression of estrogen receptor 1 (ESR1) in U-937 macrophages PubMed

Go to the HIV-1, Human Interaction Database

  • Endocrine and other factor-regulated calcium reabsorption, organism-specific biosystem (from KEGG)
    Endocrine and other factor-regulated calcium reabsorption, organism-specific biosystemCalcium (Ca2+) is essential for numerous physiological functions including intracellular signalling processes, neuronal excitability, muscle contraction and bone formation. Therefore, its homeostasis...
  • Endocrine and other factor-regulated calcium reabsorption, conserved biosystem (from KEGG)
    Endocrine and other factor-regulated calcium reabsorption, conserved biosystemCalcium (Ca2+) is essential for numerous physiological functions including intracellular signalling processes, neuronal excitability, muscle contraction and bone formation. Therefore, its homeostasis...
  • Estrogen signaling pathway, organism-specific biosystem (from KEGG)
    Estrogen signaling pathway, organism-specific biosystemEstrogens are steroid hormones that regulate a plethora of physiological processes in mammals, including reproduction, cardiovascular protection, bone integrity, cellular homeostasis, and behavior. E...
  • Estrogen signaling pathway, organism-specific biosystem (from WikiPathways)
    Estrogen signaling pathway, organism-specific biosystemEstrogen receptor refers to a group of receptors which are activated by the hormone 17??-estradiol (estrogen). Two types of estrogen receptor exist: ER which is a member of the nuclear hormone family...
  • Estrogen signaling pathway, conserved biosystem (from KEGG)
    Estrogen signaling pathway, conserved biosystemEstrogens are steroid hormones that regulate a plethora of physiological processes in mammals, including reproduction, cardiovascular protection, bone integrity, cellular homeostasis, and behavior. E...
  • FOXA1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    FOXA1 transcription factor network, organism-specific biosystem
    FOXA1 transcription factor network
  • FOXM1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    FOXM1 transcription factor network, organism-specific biosystem
    FOXM1 transcription factor network
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • LKB1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    LKB1 signaling events, organism-specific biosystem
    LKB1 signaling events
  • Leptin signaling pathway, organism-specific biosystem (from WikiPathways)
    Leptin signaling pathway, organism-specific biosystemLeptin is a peptide hormone mainly synthesised and secreted from adipocytes. It is also expressed in other tissues including placenta, stomach and skeletal muscle. Leptin mediates its effects by bind...
  • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
    Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
  • Nuclear Receptors, organism-specific biosystem (from WikiPathways)
    Nuclear Receptors, organism-specific biosystemNuclear receptors are a class of proteins found within the interior of cells that are responsible for sensing the presence of steroid and thyroid hormones and certain other molecules. In response, th...
  • Nuclear signaling by ERBB4, organism-specific biosystem (from REACTOME)
    Nuclear signaling by ERBB4, organism-specific biosystemBesides signaling as a transmembrane receptor, ligand activated homodimers of ERBB4 JM-A isoforms (ERBB4 JM-A CYT1 and ERBB4 JM-A CYT2) undergo proteolytic cleavage by ADAM17 (TACE) in the juxtamembr...
  • Plasma membrane estrogen receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    Plasma membrane estrogen receptor signaling, organism-specific biosystem
    Plasma membrane estrogen receptor signaling
  • Prolactin signaling pathway, organism-specific biosystem (from KEGG)
    Prolactin signaling pathway, organism-specific biosystemProlactin (PRL) is a polypeptide hormone known to be involved in a wide range of biological functions including osmoregulation, lactation, reproduction, growth and development, endocrinology and meta...
  • Prolactin signaling pathway, conserved biosystem (from KEGG)
    Prolactin signaling pathway, conserved biosystemProlactin (PRL) is a polypeptide hormone known to be involved in a wide range of biological functions including osmoregulation, lactation, reproduction, growth and development, endocrinology and meta...
  • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
    Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Proteoglycans in cancer, conserved biosystem (from KEGG)
    Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Telomerase, organism-specific biosystem
    Regulation of Telomerase
  • Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem
    Regulation of nuclear SMAD2/3 signaling
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
    Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
  • Signaling events mediated by HDAC Class II, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by HDAC Class II, organism-specific biosystem
    Signaling events mediated by HDAC Class II
  • Signaling mediated by p38-alpha and p38-beta, organism-specific biosystem (from Pathway Interaction Database)
    Signaling mediated by p38-alpha and p38-beta, organism-specific biosystem
    Signaling mediated by p38-alpha and p38-beta
  • TGF-beta Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TGF-beta Receptor Signaling Pathway, organism-specific biosystem"The TGF beta receptors TGFBR1 and TGFBR2 belong to a subfamily of membrane-bound serine/threonine kinases which are designated as Type I or II based on their structural and functional properties. Th...
  • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
    Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ51616, FLJ51617, FLJ77952, MGC157708, MGC157709, DKFZp686N23123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA
Inferred from Direct Assay
more info
PubMed 
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
core promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
estrogen receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
estrogen response element binding IDA
Inferred from Direct Assay
more info
PubMed 
estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
nitric-oxide synthase regulator activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
steroid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
steroid hormone receptor activity TAS
Traceable Author Statement
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
androgen metabolic process IEA
Inferred from Electronic Annotation
more info
 
antral ovarian follicle growth IEA
Inferred from Electronic Annotation
more info
 
cellular response to estradiol stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
chromatin remodeling NAS
Non-traceable Author Statement
more info
PubMed 
epithelial cell development IEA
Inferred from Electronic Annotation
more info
 
epithelial cell proliferation involved in mammary gland duct elongation IEA
Inferred from Electronic Annotation
more info
 
gene expression TAS
Traceable Author Statement
more info
 
intracellular estrogen receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
intracellular steroid hormone receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
mammary gland alveolus development IEA
Inferred from Electronic Annotation
more info
 
mammary gland branching involved in pregnancy IEA
Inferred from Electronic Annotation
more info
 
negative regulation of I-kappaB kinase/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of gene expression IDA
Inferred from Direct Assay
more info
 
negative regulation of sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
phospholipase C-activating G-protein coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cytosolic calcium ion concentration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of fibroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of nitric oxide biosynthetic process IDA
Inferred from Direct Assay
more info
 
positive regulation of nitric-oxide synthase activity IDA
Inferred from Direct Assay
more info
 
positive regulation of phospholipase C activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of retinoic acid receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis IEA
Inferred from Electronic Annotation
more info
 
prostate epithelial cord elongation IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of branching involved in prostate gland morphogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
response to estradiol IDA
Inferred from Direct Assay
more info
PubMed 
response to estrogen IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
uterus development IEA
Inferred from Electronic Annotation
more info
 
vagina development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane NAS
Non-traceable Author Statement
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
transcriptionally active chromatin IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
estrogen receptor
Names
estrogen receptor
ER-alpha
estradiol receptor
estrogen nuclear receptor alpha
estrogen receptor alpha E1-E2-1-2
estrogen receptor alpha E1-N2-E2-1-2
nuclear receptor subfamily 3 group A member 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008493.1 

    Range
    5001..417779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000125.3NP_000116.2  estrogen receptor isoform 1

    See proteins identical to NP_000116.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses the most proximal promoter, and encodes isoform 1. Variants 1-4 all encode the same isoform 1.
    Source sequence(s)
    AL078582, AL356311, BC128573, BE084831
    Consensus CDS
    CCDS5234.1
    UniProtKB/TrEMBL
    G4XH65
    UniProtKB/Swiss-Prot
    P03372
    Related
    ENSP00000206249, OTTHUMP00000017718, ENST00000206249, OTTHUMT00000043308
    Conserved Domains (4) summary
    cd06949
    Location:310547
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:180261
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:552595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
  2. NM_001122740.1NP_001116212.1  estrogen receptor isoform 1

    See proteins identical to NP_001116212.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses a different promoter, compared to variant 1. Variants 1-4 all encode the same isoform 1.
    Source sequence(s)
    AL078582, BC128573, BE084831, U68067
    Consensus CDS
    CCDS5234.1
    UniProtKB/TrEMBL
    G4XH65
    UniProtKB/Swiss-Prot
    P03372
    UniProtKB/TrEMBL
    Q9UBT1
    Related
    ENSP00000387500, ENST00000443427
    Conserved Domains (4) summary
    cd06949
    Location:310547
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:180261
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:552595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
  3. NM_001122741.1NP_001116213.1  estrogen receptor isoform 1

    See proteins identical to NP_001116213.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses a different promoter, compared to variant 1. Variants 1-4 all encode the same isoform 1.
    Source sequence(s)
    AL078582, BC128573, BE084831, DB285906
    Consensus CDS
    CCDS5234.1
    UniProtKB/TrEMBL
    G4XH65
    UniProtKB/Swiss-Prot
    P03372
    Conserved Domains (4) summary
    cd06949
    Location:310547
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:180261
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:552595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
  4. NM_001122742.1NP_001116214.1  estrogen receptor isoform 1

    See proteins identical to NP_001116214.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses a different promoter, compared to variant 1. Variants 1-4 all encode the same isoform 1.
    Source sequence(s)
    AL078582, BC128573, BE084831, DA329077
    Consensus CDS
    CCDS5234.1
    UniProtKB/TrEMBL
    G4XH65
    UniProtKB/Swiss-Prot
    P03372
    Related
    ENSP00000405330, ENST00000440973
    Conserved Domains (4) summary
    cd06949
    Location:310547
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:180261
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:552595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
  5. NM_001291230.1NP_001278159.1  estrogen receptor isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (2) has additional two amino acids in the N-terminal region, compared to isoform 1.
    Source sequence(s)
    AK313644, AL078582, BC128573, DB285906
    UniProtKB/Swiss-Prot
    P03372
    Conserved Domains (4) summary
    cd06949
    Location:312549
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:180263
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:554597
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
  6. NM_001291241.1NP_001278170.1  estrogen receptor isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (3) lacks an internal aa in the N-terminal region, compared to isoform 1.
    Source sequence(s)
    AK293019, AL078582, BC128573, DB285906
    UniProtKB/TrEMBL
    A8KAF4
    UniProtKB/Swiss-Prot
    P03372
    Conserved Domains (4) summary
    cd06949
    Location:309546
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:180260
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:551594
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    151690496..152103274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715374.1XP_006715437.1  

    Conserved Domains (3) summary
    cd07171
    Location:180261
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    cl11397
    Location:310456
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
  2. XM_006715375.1XP_006715438.1  

    UniProtKB/Swiss-Prot
    P03372
    Conserved Domains (3) summary
    cd06949
    Location:137374
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:788
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:379422
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    149573851..149986188
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    152275698..152688511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)