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Esr1 estrogen receptor 1 (alpha) [ Mus musculus (house mouse) ]

Gene ID: 13982, updated on 3-May-2015
Official Symbol
Esr1provided by MGI
Official Full Name
estrogen receptor 1 (alpha)provided by MGI
Primary source
MGI:MGI:1352467
See related
Ensembl:ENSMUSG00000019768; Vega:OTTMUSG00000020886
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ER; ERa; ESR; Estr; Estra; Nr3a1; ERalpha; ER-alpha
Summary
This gene encodes an estrogen receptor, a member of the nuclear hormone family of intracellular receptors. The encoded protein, activated by the sex hormone estrogen, is a transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Similar genes in human have been implicated in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Orthologs
See Esr1 in MapViewer
Location:
10 A1; 10 2.03 cM
Exon count:
21
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 10 NC_000076.6 (4611989..5005633)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 10 NC_000076.5 (5342780..5734495, complement)

Chromosome 10 - NC_000076.6Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 170 Neighboring gene glutathione S-transferase, pi 1 pseudogene Neighboring gene spectrin repeat containing, nuclear envelope 1 Neighboring gene predicted gene, 40594 Neighboring gene myc target 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
ATPase binding ISO
Inferred from Sequence Orthology
more info
PubMed 
DNA binding ISO
Inferred from Sequence Orthology
more info
 
RNA polymerase II core promoter proximal region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ISO
Inferred from Sequence Orthology
more info
 
beta-catenin binding ISO
Inferred from Sequence Orthology
more info
 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding ISO
Inferred from Sequence Orthology
more info
 
core promoter sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
enzyme binding ISO
Inferred from Sequence Orthology
more info
 
estrogen receptor activity ISO
Inferred from Sequence Orthology
more info
 
estrogen response element binding ISO
Inferred from Sequence Orthology
more info
 
estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
hormone binding ISO
Inferred from Sequence Orthology
more info
 
identical protein binding ISO
Inferred from Sequence Orthology
more info
 
ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex binding ISO
Inferred from Sequence Orthology
more info
 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
steroid binding ISO
Inferred from Sequence Orthology
more info
 
steroid hormone receptor activity ISO
Inferred from Sequence Orthology
more info
 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
type 1 metabotropic glutamate receptor binding ISO
Inferred from Sequence Orthology
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Sertoli cell proliferation ISO
Inferred from Sequence Orthology
more info
 
androgen metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
antral ovarian follicle growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell growth NAS
Non-traceable Author Statement
more info
PubMed 
cellular response to estradiol stimulus ISO
Inferred from Sequence Orthology
more info
 
cellular response to estrogen stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial cell proliferation involved in mammary gland duct elongation IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular estrogen receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
intracellular receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
intracellular steroid hormone receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
male gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
mammary gland alveolus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
mammary gland branching involved in pregnancy IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of I-kappaB kinase/NF-kappaB signaling ISO
Inferred from Sequence Orthology
more info
 
negative regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
negative regulation of glucose import ISO
Inferred from Sequence Orthology
more info
 
negative regulation of mitotic nuclear division NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of neuron death ISO
Inferred from Sequence Orthology
more info
 
negative regulation of sequence-specific DNA binding transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
negative regulation of smooth muscle cell proliferation ISO
Inferred from Sequence Orthology
more info
 
negative regulation of triglyceride metabolic process ISO
Inferred from Sequence Orthology
more info
 
phospholipase C-activating G-protein coupled receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
positive regulation of ERK1 and ERK2 cascade ISO
Inferred from Sequence Orthology
more info
 
positive regulation of cytosolic calcium ion concentration ISO
Inferred from Sequence Orthology
more info
 
positive regulation of epidermal growth factor receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
positive regulation of fibroblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of nitric oxide biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
positive regulation of nitric-oxide synthase activity ISO
Inferred from Sequence Orthology
more info
 
positive regulation of phospholipase C activity ISO
Inferred from Sequence Orthology
more info
 
positive regulation of retinoic acid receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
positive regulation of sequence-specific DNA binding transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter ISO
Inferred from Sequence Orthology
more info
PubMed 
prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
prostate epithelial cord elongation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of branching involved in prostate gland morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of neuron apoptotic process ISO
Inferred from Sequence Orthology
more info
 
regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
response to estradiol ISO
Inferred from Sequence Orthology
more info
 
response to estrogen ISO
Inferred from Sequence Orthology
more info
 
steroid hormone mediated signaling pathway ISO
Inferred from Sequence Orthology
more info
 
transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
uterus development IGI
Inferred from Genetic Interaction
more info
PubMed 
vagina development IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
T-tubule ISO
Inferred from Sequence Orthology
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
cytosol ISO
Inferred from Sequence Orthology
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion ISO
Inferred from Sequence Orthology
more info
 
neuron projection ISO
Inferred from Sequence Orthology
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISO
Inferred from Sequence Orthology
more info
 
perikaryon ISO
Inferred from Sequence Orthology
more info
 
perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
plasma membrane ISO
Inferred from Sequence Orthology
more info
 
protein complex ISO
Inferred from Sequence Orthology
more info
 
terminal bouton ISO
Inferred from Sequence Orthology
more info
 
transcriptionally active chromatin ISO
Inferred from Sequence Orthology
more info
 
Preferred Names
estrogen receptor
Names
estrogen receptor
estradiol receptor
nuclear receptor subfamily 3 group A member 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

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

mRNA and Protein(s)

  1. NM_001302531.1NP_001289460.1  estrogen receptor isoform 1

    See identical proteins and their annotated locations for NP_001289460.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AB560752, AC156393, AK036627, BB632250, CK334721, DV662355
    UniProtKB/TrEMBL
    E7FJU2
    UniProtKB/Swiss-Prot
    P19785
    Conserved Domains (4) summary
    cd06949
    Location:314551
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:184265
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:556599
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42185
    Oest_recep; Oestrogen receptor
  2. NM_001302532.1NP_001289461.1  estrogen receptor isoform 1

    See identical proteins and their annotated locations for NP_001289461.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC156393, AC158617, AI386103, AK033270, AK036627, AK041525
    UniProtKB/TrEMBL
    E7FJU2
    UniProtKB/Swiss-Prot
    P19785
    Related
    ENSMUSP00000101215, OTTMUSP00000022868, ENSMUST00000105590, OTTMUST00000049380
    Conserved Domains (4) summary
    cd06949
    Location:314551
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:184265
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:556599
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42185
    Oest_recep; Oestrogen receptor
  3. NM_001302533.1NP_001289462.1  estrogen receptor isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, contains an alternate exon in the 3' coding region and uses an upstream alternate 3' terminal exon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB560752, AK054182
    UniProtKB/TrEMBL
    E7FJU2
    Related
    ENSMUSP00000101213, OTTMUSP00000022871, ENSMUST00000105588, OTTMUST00000049386
    Conserved Domains (3) summary
    cd07171
    Location:184265
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam02159
    Location:42185
    Oest_recep; Oestrogen receptor
    cl11397
    Location:314416
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
  4. NM_007956.5NP_031982.1  estrogen receptor isoform 1

    See identical proteins and their annotated locations for NP_031982.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC156393, AC158617, AK033270, AK036627, DV662355
    Consensus CDS
    CCDS56678.1
    UniProtKB/TrEMBL
    E7FJU2
    UniProtKB/Swiss-Prot
    P19785
    Conserved Domains (4) summary
    cd06949
    Location:314551
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:184265
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:556599
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42185
    Oest_recep; Oestrogen receptor

RNA

  1. NR_126357.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon in the 5' region, contains an alternate internal exon and uses an upstream alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC158617, AK033270, AK036627, AK139745

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105

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

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000076.6 Reference GRCm38.p3 C57BL/6J

    Range
    4611989..5005633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011243067.1XP_011241369.1  

    See identical proteins and their annotated locations for XP_011241369.1

    Conserved Domains (4) summary
    cd06949
    Location:314551
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:184265
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:556599
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42185
    Oest_recep; Oestrogen receptor
  2. XM_011243069.1XP_011241371.1  

    Conserved Domains (3) summary
    cd07171
    Location:184265
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam02159
    Location:42185
    Oest_recep; Oestrogen receptor
    cl11397
    Location:314416
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
  3. XM_011243066.1XP_011241368.1  

    See identical proteins and their annotated locations for XP_011241368.1

    Conserved Domains (4) summary
    cd06949
    Location:314551
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:184265
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:556599
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42185
    Oest_recep; Oestrogen receptor
  4. XM_011243068.1XP_011241370.1  

    See identical proteins and their annotated locations for XP_011241370.1

    Conserved Domains (4) summary
    cd06949
    Location:314551
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:184265
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:556599
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42185
    Oest_recep; Oestrogen receptor
  5. XM_006512435.1XP_006512498.1  

    See identical proteins and their annotated locations for XP_006512498.1

    UniProtKB/TrEMBL
    E7FJU2
    UniProtKB/Swiss-Prot
    P19785
    Conserved Domains (4) summary
    cd06949
    Location:314551
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:184265
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:556599
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42185
    Oest_recep; Oestrogen receptor
  6. XM_006512434.2XP_006512497.1  

    See identical proteins and their annotated locations for XP_006512497.1

    UniProtKB/TrEMBL
    E7FJU2
    UniProtKB/Swiss-Prot
    P19785
    Conserved Domains (4) summary
    cd06949
    Location:314551
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:184265
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:556599
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42185
    Oest_recep; Oestrogen receptor
  7. XM_006512433.2XP_006512496.1  

    See identical proteins and their annotated locations for XP_006512496.1

    UniProtKB/TrEMBL
    E7FJU2
    UniProtKB/Swiss-Prot
    P19785
    Conserved Domains (4) summary
    cd06949
    Location:314551
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:184265
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12743
    Location:556599
    ESR1_C; Oestrogen-type nuclear receptor final C-terminal
    pfam02159
    Location:42185
    Oest_recep; Oestrogen receptor

Alternate Mm_Celera

Genomic

  1. AC_000032.1 Alternate Mm_Celera

    Range
    4553645..4950922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)