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)

GABPB1

1.
Identifier
rs12594956
Cytogenetic Location
15q21.2
UCSC Genome Browser
View 15q21.2 on the UCSC genome browser

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
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Homologs in model organisms

Danio rerio
gabpb2a
Mus musculus
Gabpb1
Rattus norvegicus
Gabpb1l

NRF1

1.
Identifier
rs6949152
Cytogenetic Location
7q32.2
UCSC Genome Browser
View 7q32.2 on the UCSC genome browser

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

Danio rerio
nrf1
Drosophila melanogaster
ewg
Mus musculus
Nrf1

PPARD

1.
Identifier
rs2267668
Cytogenetic Location
6p21.31
UCSC Genome Browser
View 6p21.31 on the UCSC genome browser

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
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Homologs in model organisms

Caenorhabditis elegans
nhr-85
Danio rerio
pparda
Mus musculus
Ppard
Rattus norvegicus
Ppard

PPARGC1A

1.
Identifier
rs8192678
In Other Studies (IDs)
2284
Cytogenetic Location
4p15.2
UCSC Genome Browser
View 4p15.2 on the UCSC genome browser

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

Homologs in model organisms

Danio rerio
ppargc1a
Mus musculus
Ppargc1a
Rattus norvegicus
Ppargc1a

In other databases

GenAge human genes

References

Santiago et al. (2013)

Other variants which are also part of this study