SERPINE1

Gene Information
 
Gene Symbol
SERPINE1
 
Aliases
PAI, PAI-1, PAI1, PLANH1
 
Entrez Gene ID
 
Gene Name
Serpin family E member 1
 
Chromosomal Location
7q22.1
 
HGNC ID
 
Summary
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0001300 Biological process Chronological cell aging IEP 18974388
GO:0001525 Biological process Angiogenesis IEP 11866539
GO:0010469 Biological process Regulation of signaling receptor activity IDA 8837777
GO:0010757 Biological process Negative regulation of plasminogen activation IDA 8508955
GO:0010757 Biological process Negative regulation of plasminogen activation IMP 18835034, 19855083
Protein Information
 
Protein Name
Plasminogen activator inhibitor 1, endothelial plasminogen activator inhibitor, serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1, serpin E1, serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
 
Function
Serine protease inhibitor. Inhibits TMPRSS7. Is a primary inhibitor of tissue-type plasminogen activator (PLAT) and urokinase-type plasminogen activator (PLAU). As PLAT inhibitor, it is required for fibrinolysis down-regulation and is responsible for the controlled degradation of blood clots. As PLAU inhibitor, it is involved in the regulation of cell adhesion and spreading (PubMed:9175705). Acts as a regulator of cell migration, independently of its role as protease inhibitor. It is required for stimulation of keratinocyte migration during cutaneous injury repair (PubMed:18386027). It is involved in cellular and replicative senescence. Plays a role in alveolar type 2 cells senescence in the lung (By similarity). Is involved in the regulation of cementogenic differentiation of periodontal ligament stem cells, and regulates odontoblast differentiation and dentin formation during odontogenesis
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00079 Serpin
Pathways
 
KEGG
 
Reactome
 

HIF-1 signaling pathway
p53 signaling pathway
Cellular senescence
Apelin signaling pathway
Hippo signaling pathway
Complement and coagulation cascades
AGE-RAGE signaling pathway in diabetic complications
Chagas disease (American trypanosomiasis)

 

Platelet degranulation
BMAL1:CLOCK,NPAS2 activates circadian gene expression
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
ECM proteoglycans
Dissolution of Fibrin Clot

Interactions
 
STRING MINT IntAct
ENSP00000358903 P05093 P05093
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Heart Failure
Hypertensive disease
Atherosclerosis
Myocardial Failure
Digestive System Diseases
Fatty Liver
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Obesity, hyperinsulinemia, PCOS and hypertriglyceridemia 
PAI-1 4G/5G gene polymorphisms 
 
Related 
101 ChinesePCOSpatients and 42 controls 
The PAI-1 gene 4G polymorphism is more common in women withPCOSthan in normal women and, in concert with obesity, hyperinsulinemia, and hypertriglyceridemia, contributes to treatable, hypofibrinolytic, miscarriage-promoting, high PAI-1 activity. 
 
Pregnanacy loss 
675 4G/5G 
 
Direct 
67 women with PCOS, 70 healthy controls 
The carriers of polymorphism 4G are at greater risk for early pregnancy loss than those with 5G (61.45% as compared to 36.8%), which confirms that carriage of the polymorphism 4G/5G 675 gene PAI-1 has a specific in multifactorial pathogenesis and expression ofPCOS. 
 
 
-675 4G/5G 
NIH-NIHCD criteria, Rotterdam criteria 
Direct 
2,079 cases, 1,556 controls 
The meta-analysis study suggests that PAI-1 -675 4G/5G polymorphism may contribute to increasing susceptibility to PCOS in Asians and might be a promising marker for the susceptibility of PCOS 
 
 
-675 4G/5G 
 
Related 
79 PCOS, 79 healthy women 
PAI-1 levels are positively correlated with proinflammatory factors in PCOS group 
sVCAM-1, sICAM-1 
 
 
 
Related 
14 overweight women with and 13 overweight women without PCOS 
Women with PCOS have elevated inflammatory markers, which are partially reduced by weight loss 

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