FURIN

furin, paired basic amino acid cleaving enzyme

Summary

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. Like other members of this convertase family, the product of this gene specifically cleaves substrates at single or paired basic residues. Some of its substrates include proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140, and may play a role in tumor progression. Unlike SARS-CoV and other coronaviruses, the spike protein of SARS-CoV-2 is thought to be uniquely cleaved by this protease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]

Known Variants52 total

rsidPosition (GRCh37)AllelesClassClinVar
rs493217815:91,411,656C/Tregulatory region variant—
rs1751484615:91,416,550C/Aregulatory region variantbenign
rs802745015:91,418,394C/Tintron variant—
rs14386509115:91,419,118C/T—uncertain significance
rs76862610015:91,419,525C/T—uncertain significance
rs14811034215:91,419,548C/T—likely benign
rs76045853715:91,419,549G/A—uncertain significance
rs20028878015:91,419,765A/C—uncertain significance
rs75027793915:91,420,160C/T—uncertain significance
rs13893964415:91,420,169C/T—uncertain significance
rs37039001215:91,420,186C/T—uncertain significance
rs14924275415:91,420,188C/T—likely benign
rs14842342415:91,420,368C/A—uncertain significance
rs250564066915:91,420,797A/C—uncertain significance
rs207141015:91,420,940C/A——
rs125034550015:91,421,521G/A—uncertain significance
rs156708393115:91,422,072G/A—uncertain significance
rs97914583815:91,422,085G/T—uncertain significance
rs75396605115:91,422,105A/G—uncertain significance
rs77369628615:91,422,160C/T—uncertain significance
rs203183628515:91,422,938G/T—uncertain significance
rs203183729615:91,422,953C/T—uncertain significance
rs14790450315:91,422,966A/G—uncertain significance
rs250564837415:91,422,980G/T—uncertain significance
rs77176062215:91,423,180C/T—uncertain significance
rs77716429015:91,423,195G/A—uncertain significance
rs75620353715:91,423,318G/T—likely benign
rs77243284015:91,423,364G/A—uncertain significance
rs78084906215:91,423,379C/T—uncertain significance
rs26760438415:91,423,436C/T—uncertain significance
rs75575676215:91,423,454A/G—uncertain significance
rs37614533715:91,423,466A/T—uncertain significance
rs20024060415:91,423,481C/A—uncertain significance
rs74730459015:91,423,482G/A—uncertain significance
rs622415:91,423,543G/Tupstream gene variant—
rs250565154515:91,423,966G/A—uncertain significance
rs14295871015:91,423,970A/T—uncertain significance
rs77973005715:91,424,018G/C—uncertain significance
rs78028294715:91,424,030G/A—uncertain significance
rs14462743115:91,424,186C/T—uncertain significance
rs622615:91,424,574G/Csynonymous variant—
rs78066900715:91,424,597C/T—uncertain significance
rs14358781415:91,424,739G/A—likely benign
rs159608003415:91,424,798C/T—uncertain significance
rs75554462215:91,424,801G/A—uncertain significance
rs37330959415:91,424,836C/T—uncertain significance
rs74722589715:91,424,983C/T—uncertain significance
rs20157299515:91,424,984G/A—uncertain significance
rs14621892815:91,425,038C/T—uncertain significance
rs74708176215:91,425,065G/A—uncertain significance
rs14961606315:91,425,100G/A—uncertain significance
rs622715:91,425,232C/Tupstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.