Cat. No.: GENE0013

ESR1

Description Estrogen Receptor 1
Category Protein Coding
GIFtS 51
GC id GC06P151656
Score 31.50
Entrez Gene Summary 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]
GeneCards Summary ESR1 (Estrogen Receptor 1) is a Protein Coding gene. Diseases associated with ESR1 include Estrogen Resistance and Breast Cancer. Among its related pathways are Signaling mediated by p38-alpha and p38-beta and Signaling by ERBB4. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and identical protein binding. An important paralog of this gene is ESR2.
Gene Database GeneCards: The Human Gene Database
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