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]

  • Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • Enables DNA-binding transcription factor activity, RNA polymerase II-specific
  • Enables TFIIB-class transcription factor binding
  • Enables transcription coregulator binding
  • Enables transcription corepressor binding
  • Located in chromatin
  • located in euchromatin
  • Located in nucleus
  • Located in nucleoplasm
  • Part of transcription regulator complex
  • Involved in negative regulation of transcription by RNA polymerase II
  • Involved in antral ovarian follicle growth
  • Involved in epithelial cell development
  • Involved in chromatin remodeling
  • Involved in regulation of transcription, DNA-templated
  • Abnormality of body height
  • Autosomal recessive inheritance
  • Abnormal morphology of female internal genitalia
  • Hypoplasia of the uterus
  • Abnormality of the genital system
  • Abnormality of reproductive system physiology
  • Tall stature
  • Abnormality of the genitourinary system
  • Abnormality of the uterus
  • Abnormality of the ovary
  • Ovarian cyst
  • Abnormality of the menstrual cycle
  • Amenorrhea
  • Polycystic ovaries
  • Abnormality of the musculoskeletal system
  • Abnormality of the eye
  • Abnormality of vision
  • Abnormal blood vessel morphology
  • Photophobia
  • Abnormality of the nervous system
  • Behavioral abnormality
  • Abnormality of the breast
  • Primary amenorrhea

ESR1 Localizations – Subcellular Localization Database

EmwStructure of the ESR1 protein. Based on PyMOL rendering of PDB 1a52.

Gene Location