PLAU Gene: Urokinase-Type Plasminogen Activator
A key serine protease involved in fibrinolysis, cell migration, and tissue remodeling, with implications in cancer and inflammatory diseases.
Gene Information Card
| Symbol | PLAU |
|---|---|
| Full Name | Plasminogen Activator, Urokinase |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 5328 ncbi.nlm.nih.gov/gene/5328 |
| Ensembl ID | ENSG00000122861 |
| UniProt ID | P00749 |
| OMIM ID | 191840 |
| HGNC ID | 9052 |
| Aliases | uPA, URK, ATF, U-PA |
Description
The PLAU gene encodes urokinase-type plasminogen activator (uPA), a serine protease that converts plasminogen to plasmin. uPA is involved in extracellular matrix degradation, cell migration, and tissue remodeling. It plays critical roles in fibrinolysis, wound healing, and cancer invasion/metastasis. Dysregulation of PLAU expression is associated with various malignancies and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of uPA enhances plasmin-mediated degradation of extracellular matrix, promoting tumor invasion and metastasis. | NCBI Gene, COSMIC |
| Alzheimer's disease | uPA-mediated plasmin generation may contribute to amyloid-beta clearance dysregulation. | NCBI Gene, OMIM |
| Inflammatory bowel disease | Elevated uPA activity correlates with tissue destruction and inflammation. | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Breast | 6.3 | Low |
| Liver | 4.1 | Low |
| Placenta | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 18.7 | High expression |
| MCF7 (breast cancer) | 7.2 | Moderate expression |
| HEK293 (embryonic kidney) | 5.4 | Low expression |
| HepG2 (hepatocellular carcinoma) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.422C>T (p.Thr141Met) | Missense | <0.01% | Reduced catalytic activity |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
| c.788G>A (p.Arg263Gln) | Missense | <0.01% | Altered substrate binding |
Mutation functional classification
Loss of Function (LOF)
Mutations such as start loss (p.Met1Val) lead to complete loss of uPA protein, impairing fibrinolysis and cell migration.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in PLAU.
Dominant Negative (DN)
No dominant-negative mutations described for PLAU.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • plasminogen activation |
| • extracellular matrix disassembly | • cell migration |
| • proteolysis |
Pathways
• Plasminogen activating cascade
• Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling
• Focal adhesion
• ECM-receptor interaction
Protein Summary
The uPA protein (UniProt P00749) is a 431-amino-acid serine protease secreted as a single-chain zymogen (pro-uPA). Proteolytic cleavage generates an active two-chain form. The A-chain contains an epidermal growth factor-like domain and a kringle domain; the B-chain carries the catalytic triad (His204, Asp255, Ser356). uPA binds to its receptor (uPAR) on cell surfaces, localizing plasminogen activation to the pericellular environment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLAUR Knockout HEK293 Cell Line | EDJ-KQ3817 | Human | 5329 | Details Get a Quote |
| PLAU Knockout HEK293 Cell Line | EDJ-KQ17699 | Human | 5328 | Details Get a Quote |
| PLAU Knockout A-549 Cell Line | EDJ-KQ18997 | Human | 5328 | Details Get a Quote |
| PLAU Knockout HCT 116 Cell Line | EDJ-KQ18998 | Human | 5328 | Details Get a Quote |
| PLAU Knockout HeLa Cell Line | EDJ-KQ18999 | Human | 5328 | Details Get a Quote |
| PLAUR Knockout A-549 Cell Line | EDJ-KQ25947 | Human | 5329 | Details Get a Quote |
| PLAUR Knockout HeLa Cell Line | EDJ-KQ25948 | Human | 5329 | Details Get a Quote |
| PLAUR Knockout HCT 116 Cell Line | EDJ-KQ24591 | Human | 5329 | Details Get a Quote |
| PLAUR Knockout HAP1 Cell Line | EDC07992 | Human | 5329 | Details Get a Quote |
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