LongevityMap Gene
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]
- Cytogenetic Location
- 7q22.1
- UCSC Genome Browser
- View 7q22.1 on the UCSC genome browser
- OMIM
- 173360
- Ensembl
- ENSG00000106366
- UniProt/Swiss-Prot
- A0A024QYT5_HUMAN
- Entrez Gene
- 5054
- UniGene
- 414795
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- srp-3
- Caenorhabditis elegans
- srp-2
- Caenorhabditis elegans
- srp-1
- Caenorhabditis elegans
- srp-7
- Caenorhabditis elegans
- srp-6
- Caenorhabditis elegans
- srp-8
- Danio rerio
- serpine1
- Drosophila melanogaster
- Spn38F
- Drosophila melanogaster
- Spn28F
- Drosophila melanogaster
- Spn42Dd
- Drosophila melanogaster
- Spn42Da
- Drosophila melanogaster
- Spn28Db
- Drosophila melanogaster
- Spn55B
- Drosophila melanogaster
- Spn42Db
- Drosophila melanogaster
- Spn28Da
- Drosophila melanogaster
- Spn28B
- Drosophila melanogaster
- Spn42Dc
- Drosophila melanogaster
- Spn42De
- Drosophila melanogaster
- nec
- Drosophila melanogaster
- Spn43Aa
- Drosophila melanogaster
- Spn43Ab
- Drosophila melanogaster
- Spn47C
- Mus musculus
- Serpine1
- Rattus norvegicus
- Serpine1
In other databases
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as Serpine1
- GenAge human genes
- This gene is present as SERPINE1
- CellAge
- This gene is present as SERPINE1
Studies (7)
Significant/Non-significant: 2/5
Study 1
- 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
- Indentifier
- 1-bp guanine deletion/insertion (4G/5G)
- Reference
Study 2
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- The 1-bp guanine deletion/insertion (4G/5G) polymorphism was examined in 187 centenarians and 201 healthy controls aged 20-64 years (mean age 42 years)
- Conclusions
- No significant differences relative to longevity were found
- Indentifier
- 1-bp guanine deletion/insertion (4G/5G)
- Reference
Study 3
- Longevity Association
- Non-significant
- Population
- Dutch
- Study Design
- The 1-bp guanine deletion/insertion (4G/5G) polymorphism in the promoter region was examined in 648 subjects >85 years old
- Conclusions
- In the cross-sectional analysis, the genotype distributions were similar in elderly and young subjects
- Indentifier
- 1-bp guanine deletion/insertion (4G/5G)
- Reference
Study 4
- Longevity Association
- Non-significant
- Population
- German
- Study Design
- 205 donors (147 women, 58 men; aged 80-98 years, mean 86.1) were examined for the 1-bp guanine deletion/insertion (4G/5G) polymorphism in the promoter region
- Conclusions
- The 4G/5G polymorphism was not found to be associated with longevity
- Indentifier
- 1-bp guanine deletion/insertion (4G/5G)
- Reference
Study 5
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- The 1-bp guanine deletion/insertion (4G/5G) polymorphism was examined in the promoter region in 187 centenarians (47 males and 140 females) and 201 controls (20-64 years)
- Conclusions
- No significant differences relative to longevity were found
- Indentifier
- 1-bp guanine deletion/insertion (4G/5G)
- Reference
Study 6
- Longevity Association
- Non-significant
- Population
- American (Caucasian)
- Study Design
- Genotypes for -675 4G/5G were studied in 2224 men and women aged 65 years and older at baseline
- Conclusions
- 4G/4G genotype appeared to be associated with lower non-cardiovascular mortality in men, but with greater cardiovascular mortality in women
- Indentifier
- 1-bp guanine deletion/insertion (4G/5G)
- Reference
Study 7
- Longevity Association
- Significant
- Population
- Italian (Sicily)
- Study Design
- The distribution of AAT allele variants was examined in 127 young patients affected by acute myocardial infarction (AMI), 255 young controls and 143 centenarians
- Conclusions
- The Z allele frequency was most frequent in centenarians, intermediate in healthy young controls and less frequent in AMI patients. The heterozygous MZ genotype was significantly over-represented in centenarians and under represented in AMI patients with intermediate values in young controls (16/255).
- Indentifier
- SERPINE1
- Reference