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Gene: ESR1 (estrogen receptor 1) Homo sapiens
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Symbol: ESR1
Name: estrogen receptor 1
Description: Exhibits several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; enzyme binding activity; and transcription factor binding activity. Involved in several processes, including cellular response to lipid; positive regulation of nitric oxide biosynthetic process; and regulation of RNA metabolic process. Localizes to several cellular components, including the chromatin; plasma membrane; and transcriptional preinitiation complex. Implicated in several diseases, including artery disease (multiple); autoimmune hypersensitivity disease (multiple); bone disease (multiple); breast cancer (multiple); and type 2 diabetes mellitus. Biomarker of several diseases, including breast cancer (multiple); lymphangioleiomyomatosis; male reproductive organ cancer (multiple); osteoporosis; and pulmonary hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp686N23123; E2 receptor alpha; ER; ER-alpha; Era; ESR; ESRA; estradiol receptor; estrogen nuclear receptor alpha; estrogen receptor; estrogen receptor alpha 3*,4,5,6,7*/822 isoform; estrogen receptor alpha delta 3*,4,5,6,7*,8*/941 isoform; estrogen receptor alpha delta 3*,4,5,6,7*/819-2 isoform; estrogen receptor alpha delta 4 +49 isoform; estrogen receptor alpha delta 4*,5,6,7*/654 isoform; estrogen receptor alpha delta 4*,5,6,7,8*/901 isoform; estrogen receptor alpha E1-E2-1-2; estrogen receptor alpha E1-N2-E2-1-2; estrogen receptor alpha splice variant, CTERP-1; estrogen receptor alpha splice variant, ERalphaDup5; estrogen receptor alpha splice variant, ERalphai45a; estrogen receptor alpha splice variant, ERalphai45bL; estrogen receptor alpha splice variant, ERalphai45bS; estrogen receptor alpha splice variant, ERalphai45c; estrogen receptor alpha splice variant, ERalphai56; estrogen receptor alpha splice variant, ERalphai67; ESTRR; NR3A1; nuclear receptor subfamily 3 group A member 1; oestrogen receptor alpha
Orthologs:
Mus musculus (house mouse) : Esr1 (estrogen receptor 1 (alpha))  MGI  Alliance
Rattus norvegicus (Norway rat) : Esr1 (estrogen receptor 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Esr1 (estrogen receptor 1)
Pan paniscus (bonobo/pygmy chimpanzee) : ESR1 (estrogen receptor 1)
Canis lupus familiaris (dog) : ESR1 (estrogen receptor 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Esr1 (estrogen receptor 1)
Sus scrofa (pig) : ESR1 (estrogen receptor 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386151,654,148 - 152,129,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376152,011,631 - 152,424,409 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366152,170,379 - 152,466,099 (+)NCBINCBI36hg18NCBI36
Build 346152,220,799 - 152,516,520NCBI
Celera6152,745,469 - 153,158,143 (+)NCBI
Cytogenetic Map6q25.1-q25.2NCBI
HuRef6149,573,851 - 149,986,188 (+)NCBIHuRef
CHM1_16152,275,698 - 152,688,511 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model