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ESR1 estrogen receptor 1 [ Homo sapiens (human) ]

Gene ID: 2099, updated on 2-Aug-2021

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
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
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Genomic context

See ESR1 in Genome Data Viewer
Location:
6q25.1-q25.2
Exon count:
23
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (151654148..152129619)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (151977807..152450754)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene acidic residue methyltransferase 1 Neighboring gene coiled-coil domain containing 170 Neighboring gene uncharacterized LOC107986528 Neighboring gene RNA, U6 small nuclear 813, pseudogene Neighboring gene uncharacterized LOC107986529 Neighboring gene Sharpr-MPRA regulatory regions 5277 and 6602 Neighboring gene spectrin repeat containing nuclear envelope protein 1 Neighboring gene SYNE1 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 223

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
GeneReviews: Not available
Estrogen resistance
MedGen: C3809250 OMIM: 615363 GeneReviews: Not available
Compare labs
Familial cancer of breast Compare labs
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
GeneReviews: Not available
Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.
GeneReviews: Not available
Genetic variants associated with breast size also influence breast cancer risk.
GeneReviews: Not available
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
GeneReviews: Not available
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
GeneReviews: Not available
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.
GeneReviews: Not available
Genome-wide association study identifies five new breast cancer susceptibility loci.
GeneReviews: Not available
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
GeneReviews: Not available
Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer.
GeneReviews: Not available
Genome-wide association study of alcohol dependence.
GeneReviews: Not available
Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available
Migraine
MedGen: C0149931 OMIM: 157300 GeneReviews: Not available
Compare labs
Multiple genetic loci for bone mineral density and fractures.
GeneReviews: Not available
Myocardial infarction 1
MedGen: C1832662 OMIM: 608446 GeneReviews: Not available
Compare labs
New sequence variants associated with bone mineral density.
GeneReviews: Not available
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
GeneReviews: Not available

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
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 chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables estrogen receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables estrogen receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
enables estrogen receptor activity TAS
Traceable Author Statement
more info
PubMed 
enables estrogen receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 corepressor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription factor 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 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 IEA
Inferred from Electronic Annotation
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 intracellular estrogen receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intracellular estrogen receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
involved_in intracellular steroid hormone receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in intracellular steroid hormone receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
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 I-kappaB kinase/NF-kappaB signaling 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 production of miRNAs involved in gene silencing by miRNA IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 RNA polymerase II transcription preinitiation complex assembly 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 phospholipase C activity ISS
Inferred from Sequence or Structural Similarity
more info
 
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 positive regulation of transcription, DNA-templated 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 apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of branching involved in prostate gland morphogenesis 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
PubMed 
involved_in regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
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 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 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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
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 preinitiation complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in transcriptionally active chromatin IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

NEW Try the new Transcript table

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_008493.2 RefSeqGene

    Range
    155989..451584
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_992

mRNA and Protein(s)

  1. NM_000125.4NP_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
    UniProtKB/TrEMBL
    G4XH65
    Related
    ENSP00000206249.3, ENST00000206249.8
    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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:556595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  2. NM_001122740.2NP_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
    UniProtKB/TrEMBL
    G4XH65, Q9UBT1
    Related
    ENSP00000387500.1, ENST00000443427.5
    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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:556595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  3. NM_001122741.2NP_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
    UniProtKB/TrEMBL
    G4XH65
    Related
    ENSP00000342630.5, ENST00000338799.9
    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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:556595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  4. NM_001122742.2NP_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
    UniProtKB/TrEMBL
    G4XH65
    Related
    ENSP00000405330.1, ENST00000440973.5
    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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:556595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  5. NM_001291230.2NP_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/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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:558597
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  6. NM_001291241.2NP_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/Swiss-Prot
    P03372
    UniProtKB/TrEMBL
    A8KAF4
    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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:555594
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  7. NM_001328100.2NP_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/Swiss-Prot
    P03372
    UniProtKB/TrEMBL
    H0Y4W6
    Related
    ENSP00000394721.2, ENST00000427531.6
  8. NM_001385568.1NP_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
    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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:556595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  9. NM_001385569.1NP_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
    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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:556595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  10. NM_001385570.1NP_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
    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
  11. NM_001385571.1NP_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
    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
  12. NM_001385572.1NP_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
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    151654148..152129619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010377.1XP_016865866.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372
    UniProtKB/TrEMBL
    G4XH65
    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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:556595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  2. XM_017010380.1XP_016865869.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372
    UniProtKB/TrEMBL
    G4XH65
    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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:556595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  3. XM_011535543.2XP_011533845.1  estrogen receptor isoform X1

    See identical proteins and their annotated locations for XP_011533845.1

    UniProtKB/Swiss-Prot
    P03372
    UniProtKB/TrEMBL
    G4XH65
    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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:556595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  4. XM_011535547.2XP_011533849.1  estrogen receptor isoform X2

    UniProtKB/TrEMBL
    A0A125SXW3
    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:310461
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
  5. XM_017010378.1XP_016865867.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372
    UniProtKB/TrEMBL
    G4XH65
    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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:556595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  6. XM_017010379.1XP_016865868.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372
    UniProtKB/TrEMBL
    G4XH65
    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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:556595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  7. XM_011535545.2XP_011533847.1  estrogen receptor isoform X1

    See identical proteins and their annotated locations for XP_011533847.1

    UniProtKB/Swiss-Prot
    P03372
    UniProtKB/TrEMBL
    G4XH65
    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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:556595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  8. XM_017010381.1XP_016865870.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372
    UniProtKB/TrEMBL
    G4XH65
    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
    pfam02159
    Location:42181
    Oest_recep; Oestrogen receptor
    pfam12743
    Location:556595
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  9. XM_017010382.2XP_016865871.1  estrogen receptor isoform X7

  10. XM_006715375.3XP_006715438.1  estrogen receptor isoform X4

    See identical proteins and their annotated locations for XP_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:383422
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  11. XM_011535549.2XP_011533851.1  estrogen receptor isoform X5

    Conserved Domains (2) summary
    cd06949
    Location:67304
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    pfam12743
    Location:313352
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
  12. XM_017010383.1XP_016865872.1  estrogen receptor isoform X6

RNA

  1. XR_001743223.2 RNA Sequence

  2. XR_002956266.1 RNA Sequence

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