LongevityMap variant

Entry Details

Longevity Association
Significant
Population
European (Danish, Finnish, South Italian and Greek)
Study Design
mtDNA sequences were analyzed in 4239 European individuals. 1292 individuals (646 ultranonagenarians and 646 controls) were selected for complete sequencing. The mtDNA subhaplogroups were determined in remaining 2947 samples (1449 ultranonagenarians and 1498 controls) to verify possible haplogroup association with longevity and the distribution pattern among European counties.
Conclusions
The distribution of H2, T2 haplogroup in female and H1, J2 in male showed differences between older subjects and younger controls, but no association was detectable when corrected for multiple test. Mitochondrial DNA variation does affect human longevity, but its effect is heavily influenced by the interaction between mutations concomitantly occurring on different mtDNA genes.
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser

Gene details

HGNC symbol
TP53
Aliases
P53; BCC7; LFS1; TRP53 
Common name
tumor protein p53 
Description
This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
Other longevity studies of this gene
47
OMIM
191170
Ensembl
ENSG00000141510
UniProt/Swiss-Prot
A0A087WT22_HUMAN
Entrez Gene
7157
UniGene
437460
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tp53
Mus musculus
Tp53
Rattus norvegicus
Tp53

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Trp53
GenAge human genes
  • This gene is present as TP53
CellAge
  • This gene is present as TP53

References

Raule et al. (2014)

Other variants which are also part of this study