LongevityMap Gene

Gene details

HGNC symbol
NRF1 
Aliases
ALPHA-PAL 
Common name
nuclear respiratory factor 1 
Description
This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]
Cytogenetic Location
7q32.2
UCSC Genome Browser
View 7q32.2 on the UCSC genome browser
OMIM
600879
Ensembl
ENSG00000106459
UniProt/Swiss-Prot
A0A024R770_HUMAN
Entrez Gene
4899
UniGene
654363
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
nrf1
Drosophila melanogaster
ewg
Mus musculus
Nrf1

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Spanish
Study Design
The association between five common polymorphisms in genes of this pathway and extreme longevity were examined using a case (107 centenarian, 100–111 years, 89 female)-control (284 young adults, ≤50 years, 150 female) design
Conclusions
The studied genetic variants of the PPARD-PPARGC1A-NRF-TFAM pathway were not associated with extreme longevity. A marginal association could exist for rs1937 in TFAM (p=0.003).
Indentifier
rs6949152
Reference