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
In other databases
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