PLAU gene

plasminogen activator, urokinase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer's disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

From UniProt:

Specifically cleaves the zymogen plasminogen to form the active enzyme plasmin.

From NCBI Gene:

  • Alzheimer's disease
  • Quebec platelet disorder

From UniProt:

Quebec platelet disorder (QPD): An autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. [MIM:601709]

Cytogenetic Location: 10q22.2, which is the long (q) arm of chromosome 10 at position 22.2

Molecular Location: base pairs 73,909,182 to 73,917,501 on chromosome 10 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 10q22.2, which is the long (q) arm of chromosome 10 at position 22.2
  • ATF
  • BDPLT5
  • QPD
  • u-PA
  • UPA
  • URK