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Esr1 Gene Detail
Summary
  • Symbol
    Esr1
  • Name
    estrogen receptor 1 (alpha)
  • Synonyms
    ERa, ER[a], ERalpha, ER-alpha, ESR, Estr, Estra, Nr3a1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1352467
    NCBI Gene: 13982
  • Gene Overview
    MyGene.info: ESR1
  • Alliance
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:4611989-5005633 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 2.03 cM
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1943 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1352467
protein coding gene Chr10:4611593-5005633 (.)
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
    10
  • Human Ortholog
    ESR1, estrogen receptor 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ER, Era, ESR, ESRA, ESTRR, NR3A1
  • Links
    NCBI Gene ID: 2099
    neXtProt AC: NX_P03372
    UniProt: P03372

  • Chr Location
    6q25.1-q25.2; chr6:151654148-152103274 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Esr1 mouse models; 3 with human ESR1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
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
    254 phenotypes from 24 alleles in 32 genetic backgrounds
    90 phenotypes from multigenic genotypes
    5 images
    455 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13982 NCBI Gene Model | MGI Sequence Detail 393645 C57BL/6J ±  kb
    transcript NM_001302532 RefSeq | MGI Sequence Detail 6358 C57BL/6  
    polypeptide P19785 UniProt | EBI | MGI Sequence Detail 599 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 47
      Genomic 5
      cDNA 32
      Primer pair 8
      Other 2

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-38393, MGD-MRK-9655, MGI:109348, MGI:2143478, MGI:3034239
    References
    more
    • Summaries
      All 784
      Developmental Gene Expression 85
      Diseases 2
      Gene Ontology 37
      Phenotypes 455
    • 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:267054 Keller JA, et al., Voluntary urination control by brainstem neurons that relax the urethral sphincter. Nat Neurosci. 2018 Sep;21(9):1229-1238

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory