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    ESR1 estrogen receptor 1 [ Homo sapiens (human) ]

    Gene ID: 2099, updated on 13-May-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ESR1 in Genome Data Viewer
    Location:
    6q25.1-q25.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (151656672..152129619)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (152857871..153330911)
    105.20220307 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: 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

    EBI GWAS Catalog

    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

    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

    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 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 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 fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular estrogen receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    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 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 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 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 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 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 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
     
    part_of chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of 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
     
    part_of 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 
    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

    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, 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_2023_10

    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
      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

    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

    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
      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

    14. XM_047418292.1XP_047274248.1  estrogen receptor isoform X2

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

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

    17. XM_047418289.1XP_047274245.1  estrogen receptor isoform X1

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

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

    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
      G4XH65
    2. XM_054354476.1XP_054210451.1  estrogen receptor isoform X1

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

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

    5. XM_054354472.1XP_054210447.1  estrogen receptor isoform X1

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

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

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

    9. XM_054354478.1XP_054210453.1  estrogen receptor isoform X1

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

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

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

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

    14. XM_054354484.1XP_054210459.1  estrogen receptor isoform X2

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

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

    17. XM_054354486.1XP_054210461.1  estrogen receptor isoform X2

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

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

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

    21. XM_054354492.1XP_054210467.1  estrogen receptor isoform X5

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