LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Ashkenazi Jewish
Study Design
A comprehensive resequencing of SIRT1 gene in 16 centenarians and 16 controls identified 36 SNPs (5 of those were novel SNPs). 19 SNPs with MAF > 0.05 were tested in 312 centenarians and 169 controls for association with longevity. 5 tagSNPs from a total 19 SNPs were tested for association with lipid profiles.
Conclusions
No association was found between SIRT1 SNPs and longevity, although rs10997854 and rs142194353 were associated with lipid parameters.
Identifier
rs12778366
In Other Studies (IDs)
379 1468
Cytogenetic Location
10q21.3
UCSC Genome Browser
View 10q21.3 on the UCSC genome browser

Gene details

HGNC symbol
SIRT1
Aliases
SIR2; SIR2L1; SIR2alpha 
Common name
sirtuin 1 
Description
This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
Other longevity studies of this gene
33
OMIM
604479
Ensembl
ENSG00000096717
UniProt/Swiss-Prot
A0A024QZQ1_HUMAN
Entrez Gene
23411
UniGene
369779
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
sir-2.1
Danio rerio
sirt1
Drosophila melanogaster
Sir2
Mus musculus
Sirt1
Rattus norvegicus
Sirt1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as sir-2.1
  • A homolog of this gene for Drosophila melanogaster is present as Sir2
  • A homolog of this gene for Mus musculus is present as Sirt1
GenAge human genes
  • This gene is present as SIRT1
GenDR gene manipulations
  • A homolog of this gene for Drosophila melanogaster is present as Sir2
  • A homolog of this gene for Mus musculus is present as Sirt1
  • A homolog of this gene for Caenorhabditis elegans is present as sir-2.1
CellAge
  • This gene is present as SIRT1

References

Han et al. (2015)

Other variants which are also part of this study