LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Italian
Study Design
The 1-bp guanine deletion/insertion (4G/5G) polymorphism in the promoter region was examined in 124 healthy individuals >100 years old and 130 young, healthy individuals
Conclusions
In centenarians there was a significantly higher frequency of the 4G allele and of the homozygous 4G4G genotype associated with high PAI-1 (SERPINE1) levels
Identifier
1-bp guanine deletion/insertion (4G/5G)
In Other Studies (IDs)
44 46 54 144 188
Cytogenetic Location
7q22.1
UCSC Genome Browser
View 7q22.1 on the UCSC genome browser

Gene details

HGNC symbol
SERPINE1
Aliases
PAI; PAI1; PAI-1; PLANH1 
Common name
serpin family E member 1 
Description
This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Other longevity studies of this gene
6
OMIM
173360
Ensembl
ENSG00000106366
UniProt/Swiss-Prot
A0A024QYT5_HUMAN
Entrez Gene
5054
UniGene
414795
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
srp-3
Danio rerio
serpine1
Mus musculus
Serpine1
Rattus norvegicus
Serpine1

In other databases

GenAge human genes
CellAge

References

Mannucci et al. (1997)

Other variants which are also part of this study