| GENE NAME | ESR1 |
| CHROMOSOME | 6 |
| ENSEMBL ID | ENSG00000091831 |
| ENTREZ ID | 2099 |
| UNIPROT ACCESSION NUMBER | P03372 |
| GO MOLECULAR FUNCTION | transcription coactivator binding; steroid binding; enzyme binding; DNA-binding transcription activator activity, RNA polymerase II-specific; beta-catenin binding; transcription corepressor binding; protein binding; TBP-class protein binding; identical protein binding; chromatin binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; protein kinase binding; transcription coregulator binding; DNA-binding transcription factor activity, RNA polymerase II-specific; sequence-specific double-stranded DNA binding; DNA-binding transcription factor activity; nuclear receptor activity; estrogen response element binding; nitric-oxide synthase regulator activity; TFIIB-class transcription factor binding; estrogen receptor binding; estrogen receptor activity; ATPase binding; zinc ion binding |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa05224; R-HSA-5688426; R-HSA-73857; R-HSA-383280; R-HSA-8939256; R-HSA-8878171; hsa04919; R-HSA-8939211; R-HSA-2219528; R-HSA-392499; hsa04917; hsa01522; R-HSA-2990846; R-HSA-3108232; hsa05205; R-HSA-212436; R-HSA-6811558; R-HSA-9006931; hsa05205; R-HSA-5689896; hsa01522; hsa04961; R-HSA-9009391; hsa04917; R-HSA-1257604; R-HSA-4090294; R-HSA-162582; R-HSA-8866910; R-HSA-8939902; R-HSA-9006925; hsa04915; R-HSA-8864260; hsa05200; R-HSA-1236394; hsa05200; R-HSA-597592; hsa04915; R-HSA-1251985; R-HSA-8878166; R-HSA-5663202; R-HSA-74160; R-HSA-199418; R-HSA-9006934; hsa05224; R-HSA-8931987; hsa04919; R-HSA-2219530; R-HSA-1643685; R-HSA-9018519; hsa04961 |
| 1 combination linked to ESR1 | OLI1001 |
| 1 variant linked to ESR1 | ESR1:c.437C>A, p.Pro146Gln |
| 2 diseases linked to ESR1 | Androgen insensitivity syndrome; 46,XY disorder of sex development |