PLAU

Chr 10

plasminogen activator, urokinase

Also known as: ATF, BDPLT5, QPD, UPA, URK, u-PA

NCBI Gene: 5328ENSG00000122861UniProt: P00749

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtQuebec platelet disorder

Clinical highlights

Gene-disease validity (ClinGen)
Quebec platelet disorder · ADModerateconsider for supplementary testing
3
Active trials
148
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.85
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.85LOEUF
pLI 0.000
Z-score 2.11
OE 0.54 (0.35–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.66Z-score
OE missense 0.88 (0.79–0.99)
227 obs / 257.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.35–0.85)
0≤0.351.4
Missense OE?0.88 (0.79–0.99)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 13 / 24.2Missense obs/exp: 227 / 257.0Syn Z: 0.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PLAU · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients