Aliases for FURIN Gene
External Ids for FURIN Gene
Previous HGNC Symbols for FURIN Gene
Previous GeneCards Identifiers for FURIN Gene
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. The product of this gene is one of the seven basic amino acid-specific members which cleave their 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 also 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. This gene is located in close proximity to family member proprotein convertase subtilisin/kexin type 6 and upstream of the FES oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
GeneCards Summary for FURIN Gene
FURIN (Furin (Paired Basic Amino Acid Cleaving Enzyme)) is a Protein Coding gene. Diseases associated with FURIN include dementia, familial british and plague. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include serine-type endopeptidase activity and peptidase activity. An important paralog of this gene is PCSK1.
UniProtKB/Swiss-Prot for FURIN Gene
Furin is likely to represent the ubiquitous endoprotease activity within constitutive secretory pathways and capable of cleavage at the RX(K/R)R consensus motif.