LongevityMap Gene

Gene details

HGNC symbol
ESR1 
Aliases
ER; ESR; Era; ESRA; ESTRR; NR3A1 
Common name
estrogen receptor 1 
Description
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]
Cytogenetic Location
6q25.1-q25.2
UCSC Genome Browser
View 6q25.1-q25.2 on the UCSC genome browser
OMIM
133430
Ensembl
ENSG00000091831
UniProt/Swiss-Prot
A0A125SXW3_HUMAN
Entrez Gene
2099
UniGene
208124
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
esr1
Mus musculus
Esr1
Rattus norvegicus
Esr1

In other databases

GenAge human genes
  • This gene is present as ESR1

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
Italian (Salerno)
Study Design
The association of ESR1 (PvuII and XbaI) and CYP19 (rs4646) polymorphisms with longevity was examined in a sample of 258 individuals (mean age = 83.1 ± 5.7 years). Based on mortality data over 9 years, the sample was divided into two groups of participants surviving more than 90 years or not.
Conclusions
ESR1 PP (odds ratio = 2.2) and CYP19 genotypes carrying the T allele (odds ratio = 1.9) were significantly associated with longevity (survival to age more than 90 years)
Indentifier
ESR1
Reference