LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Italian (Central)
Study Design
A cross-sectional population study of 1072 individuals (18–106 years old) was performed and TP53 variants were analyzed
Conclusions
The variant rs1042522 affects females longevity, showing significant associations with longevity in the comparison of individuals >91 years old with individuals aged 73-91 years old. The TP53 P72 allele is significantly underrepresented in the >91 years old women group.
Identifier
rs1042522
In Other Studies (IDs)
381 1979
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
Trp53
Rattus norvegicus
LOC100910954

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

Di Pietro et al. (2013)

Other variants which are also part of this study