LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- European
- Study Design
- The chromosomal region 11p.15.5 was investigated in 1321 centenarians and 1140 younger subjects from European samples
- Conclusions
- No significant results were observed for genes previously associated with longevity, except for SIRT3. A replication study in a French population did not confirm earlier findings for SIRT3, however. A meta-analysis approach of SIRT3 SNPs did not reveal robust signals.
Variants (10)
- Gene summary:
- PSMD13 (2)
- RIC8A (1)
- SIRT3 (7)
PSMD13
Gene details
- HGNC symbol
- PSMD13
- Aliases
- S11; Rpn9; p40.5; HSPC027
- Common name
- proteasome 26S subunit, non-ATPase 13
- Description
- The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 603481
- Ensembl
- ENSG00000185627
- UniProt/Swiss-Prot
- PSD13_HUMAN
- Entrez Gene
- 5719
- UniGene
- 134688
- HapMap
- View on HapMap
Homologs in model organisms
RIC8A
Gene details
- HGNC symbol
- RIC8A
- Aliases
- RIC8
- Common name
- RIC8 guanine nucleotide exchange factor A
- Description
- OMIM
- 609146
- Ensembl
- ENSG00000177963
- UniProt/Swiss-Prot
- RIC8A_HUMAN
- Entrez Gene
- 60626
- UniGene
- 592292
- HapMap
- View on HapMap
Homologs in model organisms
SIRT3
Gene details
- HGNC symbol
- SIRT3
- Aliases
- SIR2L3
- Common name
- sirtuin 3
- 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. Two alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 24
- OMIM
- 604481
- Ensembl
- ENSG00000142082
- UniProt/Swiss-Prot
- SIR3_HUMAN
- Entrez Gene
- 23410
- UniGene
- 716456
- HapMap
- View on HapMap