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CLICK IMAGE FOR MORE INFORMATIONThe ESR1 gene encodes an estrogen receptor, which is a ligand-activated transcription factor composed of hormone binding domain, DNA binding domain, and transcription activation domain. The protein localizes to the nucleus, where it forms homodimers, or heterodimerizes with ESR2. Transactivation in the nucleus involves either direct homodimer binding to an estrogen response element (ERE) sequence, or association with other DNA-binding transcription factors such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3 to mediate ERE-independent signaling. Mutual trans-repression occurs between the ESR and NF-kapa-B in a cell-type specific manner. Alternative promoter usage and alternative splicing result in dozens of transcript variants, but the full length nature of many of these variants has not been determined. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone.
Sources: Ref Sequence Mar 2014; NCBI Gene; UniProt;
The ESR1 gene encodes an estrogen receptor, which is a ligand-activated transcription factor composed of hormone binding domain, DNA binding domain, and transcription activation domain. The protein localizes to the nucleus, where it forms homodimers, or heterodimerizes with ESR2. Transactivation in the nucleus involves either direct homodimer binding to an estrogen response element (ERE) sequence, or association with other DNA-binding transcription factors such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3 to mediate ERE-independent signaling. Mutual trans-repression occurs between the ESR and NF-kapa-B in a cell-type specific manner. Alternative promoter usage and alternative splicing result in dozens of transcript variants, but the full length nature of many of these variants has not been determined. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone.
Sources: Ref Sequence Mar 2014; NCBI Gene; UniProt;
PubMed ID's
24217577,
12496244,
24398047,
24583794Mutations are a change in the segment of the DNA that contains the ESR1 genetic code. Mutations can be changes in a single nucleotide of the DNA that result in an altered amino acid sequence in the ER protein, which affects normal function. Mutations in the ESR1 gene have been found in a subset of breast cancers.
Mutations are a change in the segment of the DNA that contains the ESR1 genetic code. Mutations can be changes in a single nucleotide of the DNA that result in an altered amino acid sequence in the ER protein, which affects normal function. Mutations in the ESR1 gene have been found in a subset of breast cancers.