LongevityMap variant group
Entry Details
- 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).
Variants (4)
- Gene summary:
- GABPB1 (1)
- NRF1 (1)
- PPARD (1)
- PPARGC1A (1)
GABPB1
Gene details
- HGNC symbol
- GABPB1
- Aliases
- E4TF1; GABPB; BABPB2; E4TF1B; GABPB2; NRF2B1; NRF2B2; GABPB-1; E4TF1-47; E4TF1-53
- Common name
- GA binding protein transcription factor beta subunit 1
- Description
- This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
- OMIM
- 600610
- Ensembl
- ENSG00000104064
- UniProt/Swiss-Prot
- A0A024R5R5_HUMAN
- Entrez Gene
- 2553
- UniGene
- 654350
- HapMap
- View on HapMap
Homologs in model organisms
NRF1
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]
- OMIM
- 600879
- Ensembl
- ENSG00000106459
- UniProt/Swiss-Prot
- A0A024R770_HUMAN
- Entrez Gene
- 4899
- UniGene
- 654363
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as NRF1
PPARD
Gene details
- HGNC symbol
- PPARD
- Aliases
- FAAR; NUC1; NUCI; NR1C2; NUCII; PPARB
- Common name
- peroxisome proliferator activated receptor delta
- Description
- This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. PPARs are nuclear hormone receptors that bind peroxisome proliferators and control the size and number of peroxisomes produced by cells. PPARs mediate a variety of biological processes, and may be involved in the development of several chronic diseases, including diabetes, obesity, atherosclerosis, and cancer. This protein is a potent inhibitor of ligand-induced transcription activity of PPAR alpha and PPAR gamma. It may function as an integrator of transcription repression and nuclear receptor signaling. The expression of this gene is found to be elevated in colorectal cancer cells. The elevated expression can be repressed by adenomatosis polyposis coli (APC), a tumor suppressor protein related to APC/beta-catenin signaling pathway. Knockout studies in mice suggested the role of this protein in myelination of the corpus callosum, lipid metabolism, and epidermal cell proliferation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
- OMIM
- 600409
- Ensembl
- ENSG00000112033
- UniProt/Swiss-Prot
- A0A024RCW6_HUMAN
- Entrez Gene
- 5467
- UniGene
- 696032
- HapMap
- View on HapMap
Homologs in model organisms
PPARGC1A
Gene details
- HGNC symbol
- PPARGC1A
- Aliases
- LEM6; PGC1; PGC1A; PGC-1v; PPARGC1; PGC-1alpha; PGC-1(alpha)
- Common name
- PPARG coactivator 1 alpha
- Description
- The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 7
- OMIM
- 604517
- Ensembl
- ENSG00000109819
- UniProt/Swiss-Prot
- A0A024R9Q9_HUMAN
- Entrez Gene
- 10891
- UniGene
- 527078
- HapMap
- View on HapMap