ESR1 estrogen receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ESR1provided by HGNC
Official Full Name: estrogen receptor 1provided by HGNC
Primary source: HGNC:HGNC:3467
See related: Ensembl:ENSG00000091831 MIM:133430; AllianceGenome:HGNC:3467
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 and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020]
Expression: Biased expression in endometrium (RPKM 20.7), prostate (RPKM 2.1) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q25.1-q25.2

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (151656672..152129619)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (152857871..153330911)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (151977807..152450754)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of Estrogen Receptor-alpha and Aryl Hydrocarbon Receptor Gene Polymorphisms with Ischemic Stroke in an Egyptian Population: A Pilot Study.
Title: Association of Estrogen Receptor-α and Aryl Hydrocarbon Receptor Gene Polymorphisms with Ischemic Stroke in an Egyptian Population: A Pilot Study.
The N-terminal activation function AF-1 domain of ERalpha interacts directly with the C-terminal AF-2-holding ligand-binding domain to recruit the coactivator proteins.
Title: The N-terminal activation function AF-1 domain of ERα interacts directly with the C-terminal AF-2-holding ligand-binding domain to recruit the coactivator proteins.
Association of ESR1 Germline Variants with TP53 Somatic Variants in Breast Tumors in a Genome-wide Study.
Title: Association of ESR1 Germline Variants with TP53 Somatic Variants in Breast Tumors in a Genome-wide Study.
USP36 promotes tumorigenesis and tamoxifen resistance in breast cancer by deubiquitinating and stabilizing ERalpha.
Title: USP36 promotes tumorigenesis and tamoxifen resistance in breast cancer by deubiquitinating and stabilizing ERα.
Genomic analysis uncovers that cold-inducible RNA binding protein is associated with estrogen receptor in breast cancer.
Title: Genomic analysis uncovers that cold-inducible RNA binding protein is associated with estrogen receptor in breast cancer.
Analysis of Single Nucleotide Polymorphisms (SNPs) rs2234693 and rs9340799 of the ESR1 Gene and the Risk of Breast Cancer.
Title: Analysis of Single Nucleotide Polymorphisms (SNPs) rs2234693 and rs9340799 of the ESR1 Gene and the Risk of Breast Cancer.
Transcription factors ERalpha and Sox2 have differing multiphasic DNA- and RNA-binding mechanisms.
Title: Transcription factors ERα and Sox2 have differing multiphasic DNA- and RNA-binding mechanisms.
Estrogen receptor 1 chromatin profiling in human breast tumors reveals high inter-patient heterogeneity with enrichment of risk SNPs and enhancer activity at most-conserved regions.
Title: Estrogen receptor 1 chromatin profiling in human breast tumors reveals high inter-patient heterogeneity with enrichment of risk SNPs and enhancer activity at most-conserved regions.
ER-1 deficiency induces inflammation and lipid deposition in meibomian gland and lacrimal gland.
Title: ER-1 deficiency induces inflammation and lipid deposition in meibomian gland and lacrimal gland.
PFKFB3 regulates breast cancer tumorigenesis and Fulvestrant sensitivity by affecting ERalpha stability.
Title: PFKFB3 regulates breast cancer tumorigenesis and Fulvestrant sensitivity by affecting ERα stability.

Submit: New GeneRIF Correction See all GeneRIFs (2853)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Estrogen resistance syndrome MedGen: C3809250 OMIM: 615363 GeneReviews: Not available	not available
Familial cancer of breast MedGen: C0346153 OMIM: 114480 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	not available
Migraine with or without aura, susceptibility to, 1 MedGen: C3887485 OMIM: 157300 GeneReviews: Not available	not available
Myocardial infarction, susceptibility to MedGen: C1832662 OMIM: 608446 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with breast size also influence breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies five new breast cancer susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of alcohol dependence. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple genetic loci for bone mineral density and fractures. EBI GWAS Catalog EBI GWAS CatalogPubMed
New sequence variants associated with bone mineral density. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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
matrix	gag	HIV-1 MA upregulates ESR1 mRNA expression in HepG2 cells	PubMed
	gag	HIV-1 MA upregulates ESR1 gene expression in HepG2 cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46867 (e-PCR)
- UniSTS:4614

D6S1846 (e-PCR)
- UniSTS:81161

AL034435 (e-PCR)
- UniSTS:94226

PMC13912P1 (e-PCR)
- UniSTS:270873

D6S1315 (e-PCR)
- UniSTS:58409

SHGC-82295 (e-PCR)
- UniSTS:104236

GDB:185229 (e-PCR)
- UniSTS:155437

D11S3014 (e-PCR)
- UniSTS:152118

D11S3026 (e-PCR)
- UniSTS:152129

PMC108984P2 (e-PCR)
- UniSTS:270149

NoName (e-PCR)
- UniSTS:482376

SHGC-105338 (e-PCR)
- UniSTS:169295

BARC0078 (e-PCR)
- UniSTS:277891

RH103609 (e-PCR)
- UniSTS:97934

D6S440 (e-PCR), detects polymorphism
- UniSTS:49566

D11S2766 (e-PCR)
- UniSTS:151969

SHGC-1854 (e-PCR)
- UniSTS:79010

GDB:181591 (e-PCR)
- UniSTS:155299

ESR1 (e-PCR)
- UniSTS:479917

NoName (e-PCR)
- UniSTS:62643

Esr1 (e-PCR), detects polymorphism
- UniSTS:143041

D11S3270 (e-PCR)
- UniSTS:152513

GDB:196364 (e-PCR)
- UniSTS:155845

ESR1_43 (e-PCR)
- UniSTS:276180

ESR1_v43 (e-PCR)
- UniSTS:276180

Esr1 (e-PCR), detects polymorphism
- UniSTS:275685

D6S1313 (e-PCR)
- UniSTS:58343

PMC60225P1 (e-PCR)
- UniSTS:273398

PMC60225P2 (e-PCR)
- UniSTS:273399

STS-N31971 (e-PCR)
- UniSTS:79870

Clone Names

FLJ51616, FLJ51617, FLJ77952, MGC157708, MGC157709, DKFZp686N23123

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 14-3-3 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ATPase binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables G protein-coupled estrogen receptor activity	IC Inferred by Curator more info	PubMed
enables G protein-coupled estrogen receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables TBP-class protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables TFIIB-class transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables beta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables calmodulin binding	EXP Inferred from Experiment more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables estrogen response element binding	IBA Inferred from Biological aspect of Ancestor more info
enables estrogen response element binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables nitric-oxide synthase regulator activity	NAS Non-traceable Author Statement more info	PubMed
enables nuclear estrogen receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables nuclear estrogen receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables nuclear estrogen receptor activity	TAS Traceable Author Statement more info	PubMed
enables nuclear estrogen receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables nuclear receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables nuclear receptor activity	IGI Inferred from Genetic Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables steroid binding	ISS Inferred from Sequence or Structural Similarity more info
enables transcription coactivator binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coregulator binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in RNA polymerase II preinitiation complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in androgen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in antral ovarian follicle growth	IEA Inferred from Electronic Annotation more info
involved_in cellular response to estradiol stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to estradiol stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to estrogen stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	NAS Non-traceable Author Statement more info	PubMed
involved_in epithelial cell development	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell proliferation involved in mammary gland duct elongation	IEA Inferred from Electronic Annotation more info
involved_in estrogen receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in estrogen receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in mammary gland alveolus development	IEA Inferred from Electronic Annotation more info
involved_in mammary gland branching involved in pregnancy	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of miRNA transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of smooth muscle cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear receptor-mediated steroid hormone signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of nitric oxide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of nitric-oxide synthase activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in prostate epithelial cord elongation	IEA Inferred from Electronic Annotation more info
involved_in protein localization to chromatin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of branching involved in prostate gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of epithelial cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in regulation of toll-like receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to estradiol	IDA Inferred from Direct Assay more info	PubMed
involved_in response to estrogen	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in stem cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in steroid hormone receptor signaling pathway	IC Inferred by Curator more info	PubMed
involved_in steroid hormone receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in uterus development	IEA Inferred from Electronic Annotation more info
involved_in vagina development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in euchromatin	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: estrogen receptor

Names: E2 receptor alpha; 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; oestrogen receptor alpha

NCBI Reference Sequences (RefSeq)

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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

NG_008493.2 RefSeqGene

Range

155989..451584

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_992

mRNA and Protein(s)

NM_000125.4 → NP_000116.2 estrogen receptor isoform 1

See identical proteins and their annotated locations for NP_000116.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses the most proximal promoter, and encodes isoform 1. Variants 1-4 and 8-9 encode the same isoform (1).

Source sequence(s)

AL078582, AL356311, AL590993, BC128573, BE084831

Consensus CDS

CCDS5234.1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65

Related

ENSP00000206249.3, ENST00000206249.8

Conserved Domains (4) summary

cd06949
Location:310 → 547

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:556 → 595

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
NM_001122740.2 → NP_001116212.1 estrogen receptor isoform 1

See identical proteins and their annotated locations for 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 and 8-9 encode the same isoform (1).

Source sequence(s)

AL049821, AL078582, AL356311, AL590993

Consensus CDS

CCDS5234.1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65

Related

ENSP00000387500.1, ENST00000443427.5

Conserved Domains (4) summary

cd06949
Location:310 → 547

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:556 → 595

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
NM_001122741.2 → NP_001116213.1 estrogen receptor isoform 1

See identical proteins and their annotated locations for 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 and 8-9 encode the same isoform (1).

Source sequence(s)

AL049821, AL078582, AL356311, AL590993

Consensus CDS

CCDS5234.1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65

Related

ENSP00000342630.5, ENST00000338799.9

Conserved Domains (4) summary

cd06949
Location:310 → 547

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:556 → 595

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
NM_001122742.2 → NP_001116214.1 estrogen receptor isoform 1

See identical proteins and their annotated locations for 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 and 8-9 encode the same isoform (1).

Source sequence(s)

AL035695, AL049821, AL078582, AL356311, AL590993

Consensus CDS

CCDS5234.1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65

Related

ENSP00000405330.1, ENST00000440973.5

Conserved Domains (4) summary

cd06949
Location:310 → 547

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:556 → 595

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
NM_001291230.2 → NP_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 two additional amino acids in the N-terminal region, compared to isoform 1.

Source sequence(s)

AL049821, AL078582, AL356311, AL590993

UniProtKB/TrEMBL

B6ZGU3

Conserved Domains (4) summary

cd06949
Location:312 → 549

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 263

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:558 → 597

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
NM_001291241.2 → NP_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)

AL049821, AL078582, AL356311, AL590993

UniProtKB/TrEMBL

A8KAF4

Conserved Domains (4) summary

cd06949
Location:309 → 546

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 260

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:555 → 594

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
NM_001328100.2 → NP_001315029.1 estrogen receptor isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the both UTRs, has a shorter 5' coding region and differs in the 3' coding region compared to variant 1. The encoded isoform (4) is shorter at the N-terminus and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AL049821, AL078582, AL356311, AL590993

Consensus CDS

CCDS87457.1

UniProtKB/TrEMBL

H0Y4W6

Related

ENSP00000394721.2, ENST00000427531.6
NM_001385568.1 → NP_001372497.1 estrogen receptor isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR and uses a different promoter, compared to variant 1. Variants 1-4 and 8-9 encode the same isoform (1).

Source sequence(s)

AL035695, AL049821, AL078582, AL356311, AL590993

Consensus CDS

CCDS5234.1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65

Conserved Domains (4) summary

cd06949
Location:310 → 547

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:556 → 595

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
NM_001385569.1 → NP_001372498.1 estrogen receptor isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (9) differs in the 5' UTR and uses a different promoter, compared to variant 1. Variants 1-4 and 8-9 encode the same isoform (1).

Source sequence(s)

AL049821, AL078582, AL356311, AL590993

Consensus CDS

CCDS5234.1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65

Conserved Domains (4) summary

cd06949
Location:310 → 547

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:556 → 595

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
NM_001385570.1 → NP_001372499.1 estrogen receptor isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (10) differs in the 5' UTR, uses a different promoter and lacks an exon in the 3' coding region, compared to variant 1. It encodes isoform 5 which has a distinct C-terminus compared to isoform 1. Variants 10-12 encode the same isoform (5).

Source sequence(s)

AL035695, AL049821, AL078582, AL356311, AL590993

UniProtKB/TrEMBL

A0A125SXW2

Conserved Domains (3) summary

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

cl11397
Location:310 → 456

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
NM_001385571.1 → NP_001372500.1 estrogen receptor isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (11) differs in the 5' UTR, uses a different promoter and lacks an exon in the 3' coding region, compared to variant 1. It encodes isoform 5 which has a distinct C-terminus compared to isoform 1. Variants 10-12 encode the same isoform (5).

Source sequence(s)

AL049821, AL078582, AL356311, AL590993

UniProtKB/TrEMBL

A0A125SXW2

Conserved Domains (3) summary

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

cl11397
Location:310 → 456

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
NM_001385572.1 → NP_001372501.1 estrogen receptor isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (12) lacks an exon in the 3' coding region, compared to variant 1. It encodes isoform 5 which has a distinct C-terminus compared to isoform 1. Variants 10-12 encode the same isoform (5).

Source sequence(s)

AL049821, AL078582, AL356311, AL590993

UniProtKB/TrEMBL

A0A125SXW2

Conserved Domains (3) summary

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

cl11397
Location:310 → 456

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

151656672..152129619

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047418290.1 → XP_047274246.1 estrogen receptor isoform X1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65
XM_017010377.2 → XP_016865866.1 estrogen receptor isoform X1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65

Conserved Domains (4) summary

cd06949
Location:310 → 547

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:556 → 595

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
XM_017010380.2 → XP_016865869.1 estrogen receptor isoform X1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65

Conserved Domains (4) summary

cd06949
Location:310 → 547

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:556 → 595

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
XM_017010378.2 → XP_016865867.1 estrogen receptor isoform X1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65

Conserved Domains (4) summary

cd06949
Location:310 → 547

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:556 → 595

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
XM_047418295.1 → XP_047274251.1 estrogen receptor isoform X3

UniProtKB/TrEMBL

A0A125SXW2
XM_011535543.3 → XP_011533845.1 estrogen receptor isoform X1

See identical proteins and their annotated locations for XP_011533845.1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65

Conserved Domains (4) summary

cd06949
Location:310 → 547

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:556 → 595

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
XM_011535547.3 → XP_011533849.1 estrogen receptor isoform X2

UniProtKB/TrEMBL

A0A125SXW2, A0A125SXW3

Conserved Domains (3) summary

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

cl11397
Location:310 → 461

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
XM_047418297.1 → XP_047274253.1 estrogen receptor isoform X4

UniProtKB/TrEMBL

A0A125SXV6
XM_017010379.2 → XP_016865868.1 estrogen receptor isoform X1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65

Conserved Domains (4) summary

cd06949
Location:310 → 547

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:556 → 595

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
XM_011535545.3 → XP_011533847.1 estrogen receptor isoform X1

See identical proteins and their annotated locations for XP_011533847.1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65

Conserved Domains (4) summary

cd06949
Location:310 → 547

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:556 → 595

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
XM_047418291.1 → XP_047274247.1 estrogen receptor isoform X2

UniProtKB/TrEMBL

A0A125SXW2, A0A125SXW3
XM_017010381.2 → XP_016865870.1 estrogen receptor isoform X1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65

Conserved Domains (4) summary

cd06949
Location:310 → 547

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:180 → 261

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam02159
Location:42 → 181

Oest_recep; Oestrogen receptor

pfam12743
Location:556 → 595

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
XM_047418296.1 → XP_047274252.1 estrogen receptor isoform X3

UniProtKB/TrEMBL

A0A125SXW2
XM_047418292.1 → XP_047274248.1 estrogen receptor isoform X2

UniProtKB/TrEMBL

A0A125SXW2, A0A125SXW3
XM_047418293.1 → XP_047274249.1 estrogen receptor isoform X2

UniProtKB/TrEMBL

A0A125SXW2, A0A125SXW3
XM_047418299.1 → XP_047274255.1 estrogen receptor isoform X4

UniProtKB/TrEMBL

A0A125SXV6
XM_047418289.1 → XP_047274245.1 estrogen receptor isoform X1

UniProtKB/Swiss-Prot

P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7

UniProtKB/TrEMBL

B6ZGU3, G4XH65
XM_047418294.1 → XP_047274250.1 estrogen receptor isoform X2

UniProtKB/TrEMBL

A0A125SXW2, A0A125SXW3
XM_047418298.1 → XP_047274254.1 estrogen receptor isoform X4

UniProtKB/TrEMBL

A0A125SXV6
XM_011535549.3 → XP_011533851.1 estrogen receptor isoform X5

Conserved Domains (2) summary

cd06949
Location:67 → 304

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

pfam12743
Location:313 → 352

ESR1_C; Oestrogen-type nuclear receptor final C-terminal
XM_017010383.2 → XP_016865872.1 estrogen receptor isoform X6