LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
Danish
Study Design
38 genes (311 SNPs) belonging to pro-antioxidant pathways were investigated for the association with physical and cognitive performances in a Cohort of 1089 Danish nonagenarians. For each gene analyzed in the pro-antioxidant pathway, the influence on longitudinal survival was tested.
Conclusions
NDUFS1, TXNRD1, SOD2 and UCP3 were found significantly associated with lifespan in the female cohort. This result is consistent with their associations with physical functioning and suggests that the variability of genes in the pro-antioxidant pathway can influence survival through an effect on physical performances, at least in the analyzed cohort.

Variants (4)

1.
Identifier
rs11235972
In Other Studies (IDs)
1334
Cytogenetic Location
11q13.4
UCSC Genome Browser
View 11q13.4 on the UCSC genome browser
2.
Identifier
rs1685354
In Other Studies (IDs)
2855
Cytogenetic Location
11q13.4
UCSC Genome Browser
View 11q13.4 on the UCSC genome browser
3.
Identifier
rs3781907
In Other Studies (IDs)
1337
Cytogenetic Location
11q13.4
UCSC Genome Browser
View 11q13.4 on the UCSC genome browser
4.
Identifier
s647126
Cytogenetic Location
11q13.4
UCSC Genome Browser
View 11q13.4 on the UCSC genome browser

Gene details

HGNC symbol
UCP3
Aliases
SLC25A9 
Common name
uncoupling protein 3 
Description
Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008]
Other longevity studies of this gene
9
OMIM
602044
Ensembl
ENSG00000175564
UniProt/Swiss-Prot
A0A0S2Z4G5_HUMAN
Entrez Gene
7352
UniGene
101337
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Ucp3
Rattus norvegicus
Ucp3

In other databases

GenAge human genes
  • This gene is present as UCP3

References

Dato et al. (2014)

Other variants which are also part of this study