LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
Italian (Southern)
Study Design
Two polymorphisms (A-3826G and C-3740A), falling in the upstream promoter region of UCP1, were analyzed in a sample of 910 unrelated subjects from southern Italy (475 women and 435 men; age range 40–109)
Conclusions
Haplotype specific survival functions show that the A-C haplotype favors survival in the elderly. The results indicate that the A-C haplotype has a recessive and beneficial effect, while the G-A haplotype has a dominant and deleterious effect on human aging and longevity.

Variants (2)

1.
Identifier
A-3826G
Cytogenetic Location
4q31.1
UCSC Genome Browser
View 4q31.1 on the UCSC genome browser
2.
Identifier
C-3740A
Cytogenetic Location
4q31.1
UCSC Genome Browser
View 4q31.1 on the UCSC genome browser

Gene details

HGNC symbol
UCP1
Aliases
UCP; SLC25A7 
Common name
uncoupling protein 1 
Description
Mitochondrial uncoupling proteins (UCP) are members of the 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. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
11
OMIM
113730
Ensembl
ENSG00000109424
UniProt/Swiss-Prot
Q4KMT7_HUMAN
Entrez Gene
7350
UniGene
249211
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Ucp1
Rattus norvegicus
Ucp1

In other databases

GenAge human genes
  • This gene is present as UCP1

References

Rose et al. (2011)

Other variants which are also part of this study