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
In other databases
- CellAge
- This gene is present as 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