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Protein Coding Gene : Esr1 estrogen receptor 1 (alpha)

Primary Identifier  MGI:1352467 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  13982
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables chromatin binding activity; nuclear receptor activity; and sequence-specific DNA binding activity. Involved in cellular response to estradiol stimulus and stem cell differentiation. Acts upstream of or within several processes, including mammary gland development; regulation of defense response; and reproductive structure development. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; sensory organ; and skeleton. Used to study breast cancer. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); bone disease (multiple); breast cancer (multiple); type 2 diabetes mellitus; and vitiligo. Orthologous to human ESR1 (estrogen receptor 1).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • Esr1,
  • Nr3a1,
  • MGI:2143478,
  • estrogen receptor 1 (alpha),
  • MGI:109348,
  • MGD-MRK-38393,
  • expressed sequence AA420328,
  • MGI:3034239,
  • AU041214,
  • Estra,
  • ER-alpha,
  • ER[a],
  • estrogen receptor,
  • ESR,
  • estrogen receptor alpha,
  • expressed sequence AU041214,
  • Estr,
  • ERalpha,
  • AA420328,
  • ERa,
  • MGD-MRK-9655

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

2 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

30 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

6 Driver For