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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 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, May 2020]
FURIN (Furin, Paired Basic Amino Acid Cleaving Enzyme) is a Protein Coding gene. Diseases associated with FURIN include Avian Influenza and Cerebral Amyloid Angiopathy, Itm2b-Related, 1. Among its related pathways are Lipoprotein metabolism and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type endopeptidase inhibitor activity. An important paralog of this gene is PCSK4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IPI | 14744861 |
GO:0004175 | endopeptidase activity | TAS | -- |
GO:0004252 | serine-type endopeptidase activity | TAS | -- |
GO:0004867 | serine-type endopeptidase inhibitor activity | IDA | 10567353 |
GO:0005515 | protein binding | IPI | 20608975 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | NOT extracellular space | IDA | 10567353 |
GO:0005768 | endosome | IEA | -- |
GO:0005783 | endoplasmic reticulum | IGI | 17938254 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | HIV Life Cycle |
.91
.65
|
.45
|
2 | Lipoprotein metabolism | ||
3 | Degradation of the extracellular matrix | ||
4 | Gamma carboxylation, hypusine formation and arylsulfatase activation | ||
5 | Notch Signaling Pathway (WikiPathways) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001825 | blastocyst formation | IEA | -- |
GO:0006465 | signal peptide processing | TAS | -- |
GO:0006508 | proteolysis | IEA | -- |
GO:0007179 | transforming growth factor beta receptor signaling pathway | TAS | -- |
GO:0009966 | regulation of signal transduction | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Pirfenidone | Approved, Investigational | Pharma | Target | TGF-β production inhibitor, Antifibrotic agent; regulates cytokine levels in vivo | 86 | |
Capric acid | Experimental | Pharma | Target | 0 | ||
Calcium | Nutra | 6556 | ||||
PHENYLACETYL-ARG-VAL-ARG-4-AMIDINOBENZYLAMIDE | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FURIN 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FURIN 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FURIN 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Furin 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Furin 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FURIN 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FURIN 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FURIN 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FURIN 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | furin 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | LOC397747 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | furina 30 31 |
|
OneToMany | |
furinb 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001330 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | kpc-1 30 |
|
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs16944971 | - | p.Ala43Val | |||
VAR_055343 | - | p.Trp547Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4706n54 | CNV | gain+loss | 21841781 |
dgv4707n54 | CNV | gain | 21841781 |
dgv4708n54 | CNV | gain+loss | 21841781 |
dgv4709n54 | CNV | gain | 21841781 |
dgv4710n54 | CNV | gain+loss | 21841781 |
dgv4711n54 | CNV | loss | 21841781 |
esv22296 | CNV | loss | 19812545 |
nsv1144744 | CNV | deletion | 24896259 |
nsv515661 | CNV | loss | 19592680 |
nsv570398 | CNV | loss | 21841781 |
nsv570405 | CNV | gain | 21841781 |
nsv570426 | CNV | gain | 21841781 |
nsv570428 | CNV | loss | 21841781 |
nsv570430 | CNV | loss | 21841781 |
nsv570431 | CNV | gain | 21841781 |
nsv570432 | CNV | gain+loss | 21841781 |
nsv570434 | CNV | loss | 21841781 |
nsv570436 | CNV | loss | 21841781 |
nsv833089 | CNV | loss | 17160897 |
nsv952028 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
avian influenza |
|
|
cerebral amyloid angiopathy, itm2b-related, 1 |
|
|
anthrax disease |
|
|
diphtheria |
|
|
borna disease |
|
|