LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Dutch
Study Design
Two independent cohorts of respectively 730 and 563 subjects aged 85 and over were tested for the association of Met(410)Val SNP with longevity using a prospective follow-up design
Conclusions
In the first cohort, increasing Val allele frequency was found with increasing age at death. Compared to Met/Met carriers, mortality rate was reduced in Met/Val carriers in the combined cohorts. These results were not statistically significant, however.
Identifier
Met(410)Val
Cytogenetic Location
1q21.3
UCSC Genome Browser
View 1q21.3 on the UCSC genome browser

Gene details

HGNC symbol
SHC1
Aliases
SHC; SHCA 
Common name
SHC adaptor protein 1 
Description
This gene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in signal transduction pathways, the longest (p66Shc) may be involved in regulating life span and the effects of reactive oxygen species. The other two isoforms, p52Shc and p46Shc, link activated receptor tyrosine kinases to the Ras pathway by recruitment of the GRB2/SOS complex. p66Shc is not involved in Ras activation. Unlike the other two isoforms, p46Shc is targeted to the mitochondrial matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Other longevity studies of this gene
4
OMIM
600560
Ensembl
ENSG00000160691
UniProt/Swiss-Prot
SHC1_HUMAN
Entrez Gene
6464
UniGene
433795
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
si:dkey-246i14.4
Mus musculus
Shc1
Rattus norvegicus
Shc1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Shc1
GenAge human genes
  • This gene is present as SHC1

References

Mooijaart et al. (2004)

Other variants which are also part of this study