PLAUR

plasminogen activator, urokinase receptor

Summary

This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008]

Known Variants45 total

rsidPosition (GRCh37)AllelesClassClinVar
rs425192319:44,153,003C/A3 prime UTR variant—
rs76255815819:44,153,061C/A—uncertain significance
rs251374587919:44,153,088A/C—uncertain significance
rs53117963619:44,153,222G/A—likely benign
rs13849232119:44,153,248T/C—likely benign
rs425194619:44,156,378G/A—likely benign
rs425191219:44,156,387G/A—benign
rs75969769019:44,156,410T/C—uncertain significance
rs143004991019:44,156,491G/A—uncertain significance
rs77208133119:44,156,496T/C—uncertain significance
rs15087938919:44,156,520A/G—uncertain significance
rs75529690219:44,159,600C/T—uncertain significance
rs13830631519:44,159,662T/C—likely benign
rs14305393619:44,159,670C/T—likely benign
rs75342440919:44,159,699G/A—uncertain significance
rs75069953119:44,159,708G/A—uncertain significance
rs14001196419:44,159,722C/T—likely benign
rs425186419:44,162,233A/Gdownstream gene variant—
rs223937219:44,162,954A/Gdownstream gene variant—
rs56427225819:44,165,381C/T——
rs57252501919:44,167,503A/G——
rs15018220319:44,168,210T/Cregulatory region variant—
rs223937419:44,168,281C/Tregulatory region variant—
rs15098608919:44,169,497C/T—likely benign
rs196718478919:44,169,509T/C—uncertain significance
rs18493546519:44,169,510C/T—uncertain significance
rs14449406019:44,169,517G/T—uncertain significance
rs39914519:44,169,522T/Cmissense variant—
rs97763510119:44,169,539C/G—uncertain significance
rs75388453819:44,169,560G/T—uncertain significance
rs14693707319:44,169,602T/A—uncertain significance
rs128079970919:44,169,611T/A—uncertain significance
rs34478719:44,170,586A/G——
rs425182419:44,170,593C/G——
rs34478619:44,171,142T/A——
rs74597221919:44,171,778G/C—uncertain significance
rs77216912919:44,171,784A/C—uncertain significance
rs34478219:44,172,890A/Cregulatory region variant—
rs20043770319:44,174,212C/A—likely benign
rs6263932419:44,174,249C/T—likely benign
rs86701867819:44,174,250G/A—likely benign
rs142593868619:44,174,257G/C—uncertain significance
rs425180519:44,174,441C/Tregulatory region variant—
rs34478119:44,174,788C/Tupstream gene variant—
rs3622920419:44,175,982C/Tupstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.