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ESR1 estrogen receptor 1 [ Homo sapiens (human) ]

Gene ID: 2099, updated on 5-Jan-2025

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
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Genomic context

See ESR1 in Genome Data Viewer
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_000006.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 170 Neighboring gene uncharacterized LOC107986528 Neighboring gene uncharacterized LOC124901435 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151969745-151970311 Neighboring gene RNA, U6 small nuclear 813, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25284 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:152017738-152017865 Neighboring gene uncharacterized LOC107986529 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:152154278-152154778 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:152221566-152222765 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:152375213-152376412 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:152414054-152414235 Neighboring gene Sharpr-MPRA regulatory regions 5277 and 6602 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:152419735-152420236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17689 Neighboring gene MPRA-validated peak6220 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:152542272-152543471 Neighboring gene spectrin repeat containing nuclear envelope protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25288 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:152630775-152631974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17690 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:152706655-152707854 Neighboring gene uncharacterized LOC124901437 Neighboring gene SYNE1 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

EBI GWAS Catalog

Items 1 - 10 of 22
Description
A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
EBI GWAS Catalog
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
EBI GWAS Catalog
Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.
EBI GWAS Catalog
Genetic variants associated with breast size also influence breast cancer risk.
EBI GWAS Catalog
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
EBI GWAS Catalog
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
EBI GWAS Catalog
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.
EBI GWAS Catalog
Genome-wide association study identifies five new breast cancer susceptibility loci.
EBI GWAS Catalog
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
EBI GWAS Catalog
Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer.
EBI GWAS Catalog
Genome-wide association study of alcohol dependence.
EBI GWAS Catalog
Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
EBI GWAS Catalog
Multiple genetic loci for bone mineral density and fractures.
EBI GWAS Catalog
New sequence variants associated with bone mineral density.
EBI GWAS Catalog
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS Catalog
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
EBI GWAS Catalog
Items 1 - 10 of 22

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

General gene information

Clone Names

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

Gene Ontology Provided by GOA

Items 1 - 25 of 33
Function Evidence Code Pubs
enables 14-3-3 protein binding PubMed 
enables ATPase binding PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific PubMed 
enables DNA-binding transcription factor activity PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific  
enables G protein-coupled estrogen receptor activity PubMed 
enables G protein-coupled estrogen receptor activity PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding PubMed 
enables TBP-class protein binding PubMed 
enables TFIIB-class transcription factor binding PubMed 
enables beta-catenin binding PubMed 
enables calmodulin binding PubMed 
enables chromatin binding PubMed 
enables enzyme binding PubMed 
enables estrogen response element binding  
enables estrogen response element binding PubMed 
enables identical protein binding PubMed 
enables nitric-oxide synthase regulator activity PubMed 
enables nuclear estrogen receptor activity PubMed 
enables nuclear estrogen receptor activity PubMed 
enables nuclear estrogen receptor activity PubMed 
enables nuclear estrogen receptor binding PubMed 
enables nuclear receptor activity  
enables nuclear receptor activity PubMed 
enables nuclear receptor activity PubMed 
enables protein binding PubMed 
enables protein kinase binding PubMed 
enables sequence-specific double-stranded DNA binding PubMed 
enables steroid binding  
enables transcription coactivator binding PubMed 
enables transcription coregulator binding PubMed 
enables transcription corepressor binding PubMed 
enables zinc ion binding  
Items 1 - 25 of 33
Items 1 - 25 of 50
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway  
involved_in RNA polymerase II preinitiation complex assembly PubMed 
involved_in androgen metabolic process  
involved_in antral ovarian follicle growth  
involved_in cellular response to estradiol stimulus PubMed 
involved_in cellular response to estradiol stimulus  
involved_in cellular response to estrogen stimulus  
involved_in chromatin remodeling PubMed 
involved_in epithelial cell development  
involved_in epithelial cell proliferation involved in mammary gland duct elongation  
involved_in estrogen receptor signaling pathway  
involved_in estrogen receptor signaling pathway PubMed 
involved_in estrogen receptor signaling pathway PubMed 
involved_in fibroblast proliferation  
involved_in male gonad development  
involved_in mammary gland alveolus development  
involved_in mammary gland branching involved in pregnancy  
involved_in negative regulation of DNA-binding transcription factor activity PubMed 
involved_in negative regulation of canonical NF-kappaB signal transduction PubMed 
involved_in negative regulation of gene expression PubMed 
involved_in negative regulation of miRNA transcription PubMed 
involved_in negative regulation of smooth muscle cell apoptotic process  
involved_in negative regulation of transcription by RNA polymerase II PubMed 
involved_in nuclear receptor-mediated steroid hormone signaling pathway  
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway  
involved_in positive regulation of DNA-binding transcription factor activity PubMed 
involved_in positive regulation of DNA-templated transcription PubMed 
involved_in positive regulation of cytosolic calcium ion concentration  
involved_in positive regulation of fibroblast proliferation  
involved_in positive regulation of nitric oxide biosynthetic process PubMed 
involved_in positive regulation of nitric-oxide synthase activity PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis  
involved_in prostate epithelial cord elongation  
involved_in protein localization to chromatin PubMed 
involved_in regulation of DNA-templated transcription PubMed 
involved_in regulation of branching involved in prostate gland morphogenesis  
involved_in regulation of epithelial cell apoptotic process  
involved_in regulation of inflammatory response  
involved_in regulation of toll-like receptor signaling pathway  
involved_in regulation of transcription by RNA polymerase II  
involved_in response to estradiol PubMed 
involved_in response to estrogen PubMed 
involved_in signal transduction PubMed 
involved_in stem cell differentiation  
involved_in steroid hormone receptor signaling pathway PubMed 
involved_in steroid hormone receptor signaling pathway PubMed 
involved_in uterus development  
involved_in vagina development  
Items 1 - 25 of 50
Component Evidence Code Pubs
located_in Golgi apparatus  
located_in chromatin  
located_in chromatin PubMed 
located_in chromatin  
located_in cytoplasm PubMed 
located_in cytosol  
located_in euchromatin PubMed 
located_in membrane PubMed 
located_in nucleoplasm  
is_active_in nucleus  
located_in nucleus PubMed 
located_in nucleus PubMed 
located_in plasma membrane PubMed 
is_active_in plasma membrane PubMed 
located_in plasma membrane  
part_of protein-containing complex PubMed 
part_of protein-containing complex PubMed 
part_of transcription regulator complex 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)

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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

  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, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, 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, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, G4XH65
    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, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, 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, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, 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/TrEMBL
    B6ZGU3
    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/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/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
    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: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
    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: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
    UniProtKB/TrEMBL
    A0A125SXW2
    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
    UniProtKB/TrEMBL
    A0A125SXW2
    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
    UniProtKB/TrEMBL
    A0A125SXW2
    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: 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

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    151656672..152129619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418290.1XP_047274246.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, G4XH65
  2. XM_017010377.2XP_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: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_017010380.2XP_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: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_017010378.2XP_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: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. XM_047418295.1XP_047274251.1  estrogen receptor isoform X3

    UniProtKB/TrEMBL
    A0A125SXW2
  6. XM_011535543.3XP_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: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_011535547.3XP_011533849.1  estrogen receptor isoform X2

    UniProtKB/TrEMBL
    A0A125SXW2, 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
  8. XM_047418297.1XP_047274253.1  estrogen receptor isoform X4

    UniProtKB/TrEMBL
    A0A125SXV6
  9. XM_017010379.2XP_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: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. XM_011535545.3XP_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: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
  11. XM_047418291.1XP_047274247.1  estrogen receptor isoform X2

    UniProtKB/TrEMBL
    A0A125SXW2, A0A125SXW3
  12. XM_017010381.2XP_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: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
  13. XM_047418296.1XP_047274252.1  estrogen receptor isoform X3

    UniProtKB/TrEMBL
    A0A125SXW2
  14. XM_047418292.1XP_047274248.1  estrogen receptor isoform X2

    UniProtKB/TrEMBL
    A0A125SXW2, A0A125SXW3
  15. XM_047418293.1XP_047274249.1  estrogen receptor isoform X2

    UniProtKB/TrEMBL
    A0A125SXW2, A0A125SXW3
  16. XM_047418299.1XP_047274255.1  estrogen receptor isoform X4

    UniProtKB/TrEMBL
    A0A125SXV6
  17. XM_047418289.1XP_047274245.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, G4XH65
  18. XM_047418294.1XP_047274250.1  estrogen receptor isoform X2

    UniProtKB/TrEMBL
    A0A125SXW2, A0A125SXW3
  19. XM_047418298.1XP_047274254.1  estrogen receptor isoform X4

    UniProtKB/TrEMBL
    A0A125SXV6
  20. XM_011535549.3XP_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
  21. XM_017010383.2XP_016865872.1  estrogen receptor isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    152857871..153330911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354473.1XP_054210448.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, G4XH65
  2. XM_054354476.1XP_054210451.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, G4XH65
  3. XM_054354477.1XP_054210452.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, G4XH65
  4. XM_054354487.1XP_054210462.1  estrogen receptor isoform X3

    UniProtKB/TrEMBL
    A0A125SXW2
  5. XM_054354472.1XP_054210447.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, G4XH65
  6. XM_054354475.1XP_054210450.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, G4XH65
  7. XM_054354481.1XP_054210456.1  estrogen receptor isoform X2

    UniProtKB/TrEMBL
    A0A125SXW2, A0A125SXW3
  8. XM_054354489.1XP_054210464.1  estrogen receptor isoform X4

    UniProtKB/TrEMBL
    A0A125SXV6
  9. XM_054354478.1XP_054210453.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, G4XH65
  10. XM_054354480.1XP_054210455.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, G4XH65
  11. XM_054354483.1XP_054210458.1  estrogen receptor isoform X2

    UniProtKB/TrEMBL
    A0A125SXW2, A0A125SXW3
  12. XM_054354479.1XP_054210454.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, G4XH65
  13. XM_054354488.1XP_054210463.1  estrogen receptor isoform X3

    UniProtKB/TrEMBL
    A0A125SXW2
  14. XM_054354484.1XP_054210459.1  estrogen receptor isoform X2

    UniProtKB/TrEMBL
    A0A125SXW2, A0A125SXW3
  15. XM_054354485.1XP_054210460.1  estrogen receptor isoform X2

    UniProtKB/TrEMBL
    A0A125SXW2, A0A125SXW3
  16. XM_054354491.1XP_054210466.1  estrogen receptor isoform X4

    UniProtKB/TrEMBL
    A0A125SXV6
  17. XM_054354486.1XP_054210461.1  estrogen receptor isoform X2

    UniProtKB/TrEMBL
    A0A125SXW2, A0A125SXW3
  18. XM_054354474.1XP_054210449.1  estrogen receptor isoform X1

    UniProtKB/Swiss-Prot
    P03372, Q13511, Q14276, Q5T5H7, Q6MZQ9, Q9NU51, Q9UDZ7, Q9UIS7
    UniProtKB/TrEMBL
    B6ZGU3, G4XH65
  19. XM_054354482.1XP_054210457.1  estrogen receptor isoform X2

    UniProtKB/TrEMBL
    A0A125SXW2, A0A125SXW3
  20. XM_054354490.1XP_054210465.1  estrogen receptor isoform X4

    UniProtKB/TrEMBL
    A0A125SXV6
  21. XM_054354492.1XP_054210467.1  estrogen receptor isoform X5

  22. XM_054354493.1XP_054210468.1  estrogen receptor isoform X6

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