SERPINE1 (PAI-1) Gene: Serpin Family E Member 1
Key regulator of fibrinolysis and extracellular matrix remodeling; associated with thrombophilia, fibrosis, and cancer progression.
Gene Information Card
| Symbol | SERPINE1 |
|---|---|
| Full Name | Serpin Family E Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 5054 ncbi.nlm.nih.gov/gene/5054 |
| Ensembl ID | ENSG00000106366 |
| UniProt ID | P05121 |
| OMIM ID | 173360 |
| HGNC ID | 8583 |
| Aliases | PAI-1, PAI1, PLANH1 |
Description
SERPINE1 (serpin family E member 1) encodes plasminogen activator inhibitor-1 (PAI-1), a serine protease inhibitor that regulates fibrinolysis by inhibiting tissue-type (tPA) and urokinase-type (uPA) plasminogen activators. PAI-1 is a key modulator of blood coagulation, extracellular matrix turnover, cell adhesion, and migration. Elevated PAI-1 levels are associated with thrombotic disorders, fibrosis, and poor prognosis in various cancers. The gene is located on chromosome 7q22.1 and is primarily expressed in adipose tissue, liver, and vascular endothelium.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Plasminogen activator inhibitor-1 deficiency (OMIM #613329) | Loss-of-function mutations in SERPINE1 lead to impaired fibrinolysis and bleeding diathesis due to unopposed plasmin generation. | ClinVar, OMIM |
| Venous thromboembolism | Elevated PAI-1 levels reduce fibrinolytic capacity, increasing risk of deep vein thrombosis and pulmonary embolism. | NCBI Gene, ClinVar |
| Myocardial infarction | Increased PAI-1 expression promotes atherothrombosis by inhibiting clot dissolution. | OMIM, NCBI Gene |
| Pulmonary fibrosis | PAI-1 overexpression in lung tissue suppresses uPA-mediated matrix degradation, leading to excessive collagen deposition. | NCBI Gene, UniProt |
| Cancer progression (e.g., breast, colorectal, lung) | PAI-1 promotes tumor invasion and metastasis by modulating pericellular proteolysis and angiogenesis. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 120.5 | High |
| Liver | 85.3 | High |
| Lung | 42.1 | Medium |
| Heart | 38.7 | Medium |
| Skeletal muscle | 15.2 | Low |
| Brain | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 95.4 | High expression; used for functional studies |
| A549 (lung) | 52.3 | Moderate expression; induced by TGF-β |
| MCF7 (breast) | 28.6 | Low baseline; upregulated in invasive lines |
| HUVEC (endothelial) | 78.9 | High; responsive to inflammatory cytokines |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1101G>A (p.Trp367*) | Nonsense | Rare | Loss of function; associated with PAI-1 deficiency and bleeding disorder |
| c.978G>A (p.Arg326Gln) | Missense | 0.1% in general population | Reduced inhibitory activity; linked to mild bleeding tendency |
| c.43G>A (p.Ala15Thr) | Missense | 0.5% in East Asian populations | Altered secretion; possible thrombotic risk modifier |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Trp367*) result in truncated, non-functional PAI-1, leading to hyperfibrinolysis and bleeding diathesis.
Gain of Function (GOF)
Promoter polymorphisms (e.g., -675 4G/5G) increase PAI-1 transcription, elevating plasma levels and thrombotic risk.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported for SERPINE1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Plasminogen activating cascade (Reactome: R-HSA-75205)
• uPA/uPAR-mediated signaling (KEGG: hsa05205 – Proteoglycans in cancer)
• TGF-β signaling pathway (KEGG: hsa04350)
• Complement and coagulation cascades (KEGG: hsa04610)
Protein Summary
Plasminogen activator inhibitor-1 (PAI-1) is a 45 kDa glycoprotein belonging to the serpin superfamily. It inhibits tPA and uPA by forming stable covalent complexes, thereby regulating plasmin generation and fibrinolysis. PAI-1 exists in active, latent, and substrate conformations. Its expression is induced by cytokines, growth factors, and hypoxia. Elevated PAI-1 levels are a biomarker for thrombotic risk and poor cancer prognosis. The protein is stored in platelets and secreted by endothelial cells, adipocytes, and hepatocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINE1 Knockout hCF Cell Line | EDJ-KQ19 | Human | 5054 | Details Get a Quote |
| SERPINE1 Knockout HEK293 Cell Line | EDJ-KQ944 | Human | 5054 | Details Get a Quote |
| SERPINE1 Knockout A-549 Cell Line | EDJ-KQ18160 | Human | 5054 | Details Get a Quote |
| SERPINE1 Knockout HCT 116 Cell Line | EDJ-KQ19929 | Human | 5054 | Details Get a Quote |
| SERPINE1 Knockout HeLa Cell Line | EDJ-KQ19930 | Human | 5054 | Details Get a Quote |
| SERPINE1 Knockout U-87MG ATCC Cell Line | EDJ-KZ449 | Human | 5054 | Details Get a Quote |
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