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/Tuncertain significance
rs76862610015:91,419,525C/Tuncertain significance
rs14811034215:91,419,548C/Tlikely benign
rs76045853715:91,419,549G/Auncertain significance
rs20028878015:91,419,765A/Cuncertain significance
rs75027793915:91,420,160C/Tuncertain significance
rs13893964415:91,420,169C/Tuncertain significance
rs37039001215:91,420,186C/Tuncertain significance
rs14924275415:91,420,188C/Tlikely benign
rs14842342415:91,420,368C/Auncertain significance
rs250564066915:91,420,797A/Cuncertain significance
rs207141015:91,420,940C/A
rs125034550015:91,421,521G/Auncertain significance
rs156708393115:91,422,072G/Auncertain significance
rs97914583815:91,422,085G/Tuncertain significance
rs75396605115:91,422,105A/Guncertain significance
rs77369628615:91,422,160C/Tuncertain significance
rs203183628515:91,422,938G/Tuncertain significance
rs203183729615:91,422,953C/Tuncertain significance
rs14790450315:91,422,966A/Guncertain significance
rs250564837415:91,422,980G/Tuncertain significance
rs77176062215:91,423,180C/Tuncertain significance
rs77716429015:91,423,195G/Auncertain significance
rs75620353715:91,423,318G/Tlikely benign
rs77243284015:91,423,364G/Auncertain significance
rs78084906215:91,423,379C/Tuncertain significance
rs26760438415:91,423,436C/Tuncertain significance
rs75575676215:91,423,454A/Guncertain significance
rs37614533715:91,423,466A/Tuncertain significance
rs20024060415:91,423,481C/Auncertain significance
rs74730459015:91,423,482G/Auncertain significance
rs622415:91,423,543G/Tupstream gene variant
rs250565154515:91,423,966G/Auncertain significance
rs14295871015:91,423,970A/Tuncertain significance
rs77973005715:91,424,018G/Cuncertain significance
rs78028294715:91,424,030G/Auncertain significance
rs14462743115:91,424,186C/Tuncertain significance
rs622615:91,424,574G/Csynonymous variant
rs78066900715:91,424,597C/Tuncertain significance
rs14358781415:91,424,739G/Alikely benign
rs159608003415:91,424,798C/Tuncertain significance
rs75554462215:91,424,801G/Auncertain significance
rs37330959415:91,424,836C/Tuncertain significance
rs74722589715:91,424,983C/Tuncertain significance
rs20157299515:91,424,984G/Auncertain significance
rs14621892815:91,425,038C/Tuncertain significance
rs74708176215:91,425,065G/Auncertain significance
rs14961606315:91,425,100G/Auncertain significance
rs622715:91,425,232C/Tupstream gene variant

Gene information from NCBI Gene. Variant classifications from ClinVar.