Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.
ESR1 - estrogen receptor 1
Function
Isoform 3Involved in activation of NOS3 and endothelial nitric oxide production (PubMed:21937726). Isoforms lacking one or several functional domains are thought to modulate transcriptional activity by competitive ligand or DNA binding and/or heterodimerization with the full-length receptor (PubMed:10970861). Binds to ERE and inhibits isoform 1 (PubMed:10970861).
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 2099 | ENSG00000091831 | ESR1 | P03372 |
Causal Flows are statistically significant links between putative causal events (somatic mutations, copy number variations, chromosomal translocations, etc.) and the activity levels of regulators and regulons. In the causal flow, a mutation may causally activate or deactivate a downstream regulator which then might up- down-regulates a regulonthat contains genes with similar expression profiles and binding sites.
Causal Mechanistic Flows with ENSG00000091831 as Regulator
| ID | Mutation | Role | Regulator | Role | Regulon | # downstream regulons | # diffexp regulons | Drugs |
|---|---|---|---|---|---|---|---|---|
| CMF-03843 | DSP | down-regulates | ESR1 | represses | R-1188 | 7 | 2 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-10952 | BMP5 | down-regulates | ESR1 | represses | R-1188 | 7 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-11314 | RPTN | down-regulates | ESR1 | represses | R-1188 | 7 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-12874 | ATP11C | down-regulates | ESR1 | represses | R-1188 | 7 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-14916 | SDHAP3 | down-regulates | ESR1 | represses | R-1188 | 7 | 4 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-20018 | ATCAY | down-regulates | ESR1 | represses | R-1188 | 7 | 2 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-23225 | RNF17 | down-regulates | ESR1 | represses | R-1188 | 7 | 2 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-24163 | HEATR5A | down-regulates | ESR1 | represses | R-1188 | 7 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-25933 | PRKG2 | down-regulates | ESR1 | represses | R-1188 | 7 | 2 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |