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Esr1 Gene Detail
Summary
  • Symbol
    Esr1
  • Name
    estrogen receptor 1 (alpha)
  • Synonyms
    ER[a], ERa, ER-alpha, ERalpha, ESR, Estr, Estra, Nr3a1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1352467
    NCBI Gene: 13982
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:4561989-4955633 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 2.03 cM
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    10224 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1352467
 protein coding gene Chr10:4561593-4955633 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016981
 protein coding gene Chr10:1642184-2065710 (+)
A/J MGP_AJ_G0016959
 protein coding gene Chr10:1544205-1933222 (+)
AKR/J MGP_AKRJ_G0016924
 protein coding gene Chr10:1543628-1937978 (+)
BALB/cJ MGP_BALBcJ_G0016917
 protein coding gene Chr10:1507424-1901789 (+)
C3H/HeJ MGP_C3HHeJ_G0016742
 protein coding gene Chr10:1630001-2034933 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017380
 protein coding gene Chr10:1664905-2067624 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015086
 protein coding gene Chr10:1360444-1727110 (+)
CAST/EiJ MGP_CASTEiJ_G0016324
 protein coding gene Chr10:1686626-2096011 (+)
CBA/J MGP_CBAJ_G0016714
 protein coding gene Chr10:1731821-2167974 (+)
DBA/2J MGP_DBA2J_G0016822
 protein coding gene Chr10:1540708-1923563 (+)
FVB/NJ MGP_FVBNJ_G0016817
 protein coding gene Chr10:1504071-1878661 (+)
LP/J MGP_LPJ_G0016897
 protein coding gene Chr10:1605100-1986935 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016848
 protein coding gene Chr10:1632405-2069771 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017417
 protein coding gene Chr10:1563681-1960062 (+)
PWK/PhJ MGP_PWKPhJ_G0016110
 protein coding gene Chr10:1548497-1936520 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015891
 protein coding gene Chr10:1743983-2169441 (+)
WSB/EiJ MGP_WSBEiJ_G0016385
 protein coding gene Chr10:1629088-2023133 (+)



Homology
more
  • Human Ortholog
    ESR1, estrogen receptor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ESR1, estrogen receptor 1
  • Synonyms
    ER, Era, ESR, ESRA, ESTRR, NR3A1
  • Links
    NCBI Gene ID: 2099
    neXtProt AC: NX_P03372
    UniProt: P03372

  • Chr Location
    6q25.1-q25.2; chr6:151656672-152129619 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Esr1 mouse models; 17 with human ESR1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    259 phenotypes from 24 alleles in 32 genetic backgrounds
    99 phenotypes from multigenic genotypes
    5 images
    630 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for targeted null mutations have reduced skeletal growth and are infertile. Females exhibit hypoplastic uteri and nonovulatory ovaries, while males produce few sperm of low motility and fertilizing capacity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    158
  • GO References
    40
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1441
  • Tissues
    464
  • cDNA Data
    29
  • Literature Summary
    117
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13982 NCBI Gene Model | MGI Sequence Detail 393645 C57BL/6J ±  kb
    transcript NM_001428459 RefSeq | MGI Sequence Detail 6340 C57BL/6  
    polypeptide P19785 UniProt | EBI | MGI Sequence Detail 599 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      12 Sequences
    • Protein Ontology
      PR:000007204 estrogen receptor
      (term hierarchy)
    • InterPro Domains
      IPR001292 Estrogen receptor
      IPR046944 Estrogen receptor, N-terminal
      IPR024178 Estrogen receptor/oestrogen-related receptor
      IPR001723 Nuclear hormone receptor
      IPR050200 Nuclear hormone receptor family NR3 subfamily
      IPR000536 Nuclear hormone receptor, ligand-binding domain
      IPR035500 Nuclear hormone receptor-like domain superfamily
      IPR024736 Oestrogen-type nuclear receptor final C-terminal domain
      IPR013088 Zinc finger, NHR/GATA-type
      IPR001628 Zinc finger, nuclear hormone receptor-type
    • GlyGen
      P19785 3 sites, 1 O-linked glycan (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 63
      Genomic 5
      cDNA 34
      Primer pair 17
      Other 7

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-38393, MGD-MRK-9655, MGI:109348, MGI:2143478, MGI:3034239
    References
    more
    • Summaries
      All 1022
      Developmental Gene Expression 117
      Diseases 2
      Gene Ontology 40
      Phenotypes 630
    • Earliest
      J:113710 Greene GL, et al., Sequence and expression of human estrogen receptor complementary DNA. Science. 1986 Mar 7;231(4742):1150-4
    • Latest
      J:352591 Babey ME, et al., A maternal brain hormone that builds bone. Nature. 2024 Aug;632(8024):357-365
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory