ESR1
Summary: This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The protein localizes to the nucleus where it may form a homodimer or a heterodimer with estrogen receptor 2. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Estrogen receptors are also involved in pathological processes including breast cancer, endometrial cancer, and osteoporosis. 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. [provided by RefSeq, Mar 2014].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:133430 Ensembl IDEnsembl:ENSG00000091831 HGNC IDHGNC:HGNC:3467 PHARMGKB IDPA156 Map Location6q25.1-q25.2 | |||||
GO terms in ESR1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IDA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IPI | GO:0001093 | TFIIB-class transcription factor binding |
Gene expression in normal tissue: ESR1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ESR1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | carmerpathway | carm1 and regulation of the estrogen receptor |
| biocarta | efppathway | estrogen responsive protein efp controls cell cycle and breast tumors growth |
| biocarta | her2pathway | role of erbb2 in signal transduction and oncology |
| biocarta | mta3pathway | downregulated of mta-3 in er-negative breast tumors |
| biocarta | pelp1pathway | pelp1 modulation of estrogen receptor activity |
| biocarta | tertpathway | overview of telomerase protein component gene htert transcriptional regulation |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ESR1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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