LongevityMap variant group
Entry Details
- Longevity Association
- Significant
- Population
- Chinese (Han)
- Study Design
- 482 healthy individuals (246 subjects (60 to 91 years old, 71.2 ± 7.1 years; 49.2% male); 236 controls (35 to 59 years old, mean ± SD: 47.3 ± 7.2 years; 45.3% male)) were examined for the association of SIRT1 polymorphisms with healthy aging
- Conclusions
- rs3758391/C and rs4746720/C were more common in case group. Genotype distributions and allele frequencies showed no differences in different genders. The haplotype CC of rs3758391 and rs4746720 was significantly higher in the case group compared to the young control group. The polymorphisms of SIRT1 was associated with healthy aging.
Variants (2)
1.
- Identifier
- rs3758391
- In Other Studies (IDs)
- 1478 2252
- Cytogenetic Location
- 10q21.3
- UCSC Genome Browser
- View 10q21.3 on the UCSC genome browser
2.
- Identifier
- rs4746720
- 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
- Saccharomyces cerevisiae
- HST1
- Saccharomyces cerevisiae
- SIR2
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 Saccharomyces cerevisiae is present as SIR2
- A homolog of this gene for Mus musculus is present as Sirt1
- A homolog of this gene for Saccharomyces cerevisiae is present as HST1
- 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
- A homolog of this gene for Saccharomyces cerevisiae is present as SIR2
- A homolog of this gene for Saccharomyces cerevisiae is present as HST1
- CellAge
- This gene is present as SIRT1