LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Japanese
- Study Design
- The correlation between mitochondrial polymorphisms and the longevity phenotype was analyzed in 112 Japanese semi-supercentenarians and 672 previous published sequences from individuals with non-disease phenotypes
- Conclusions
- mtSNP 14979C (Cytb: Ile78Thr) in D4a was identified to be correlated with extreme longevity
- Identifier
- 14979C
- 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