Human Gene FURIN (ENST00000268171.8_4) from GENCODE V47lift37
  Description: furin, paired basic amino acid cleaving enzyme, transcript variant 1 (from RefSeq NM_002569.4)
Gencode Transcript: ENST00000268171.8_4
Gencode Gene: ENSG00000140564.13_11
Transcript (Including UTRs)
   Position: hg19 chr15:91,411,818-91,426,687 Size: 14,870 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr15:91,418,971-91,425,108 Size: 6,138 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:91,411,818-91,426,687)mRNA (may differ from genome)Protein (794 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FURIN_HUMAN
DESCRIPTION: RecName: Full=Furin; EC=3.4.21.75; AltName: Full=Dibasic-processing enzyme; AltName: Full=Paired basic amino acid residue-cleaving enzyme; Short=PACE; Flags: Precursor;
FUNCTION: 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.
CATALYTIC ACTIVITY: Release of mature proteins from their proproteins by cleavage of -Arg-Xaa-Yaa-Arg-|-Zaa- bonds, where Xaa can be any amino acid and Yaa is Arg or Lys. Releases albumin, complement component C3 and vWF from their respective precursors.
COFACTOR: Calcium.
ENZYME REGULATION: Could be inhibited by the not secondly cleaved propeptide.
SUBUNIT: Interacts with FLNA (By similarity). Binds to PACS1 which mediates TGN localization and connection to clathrin adapters.
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Cell membrane; Single-pass type I membrane protein. Note=Shuttles between the trans-Golgi network and the cell surface. Propeptide cleavage is a prerequisite for exit of furin molecules out of the endoplasmic reticulum (ER). A second cleavage within the propeptide occurs in the trans Golgi network (TGN), followed by the release of the propeptide and the activation of furin.
TISSUE SPECIFICITY: Seems to be expressed ubiquitously.
DOMAIN: Contains a cytoplasmic domain responsible for its TGN localization and recycling from the cell surface.
PTM: The inhibition peptide, which plays the role of an intramolecular chaperone, is autocatalytically removed in the endoplasmic reticulum (ER) and remains non-covalently bound to furin as a potent autoinhibitor. Following transport to the trans Golgi, a second cleavage within the inhibition propeptide results in propeptide dissociation and furin activation.
PTM: Phosphorylation is required for TGN localization of the endoprotease. In vivo, exists as di-, mono- and non-phosphorylated forms.
SIMILARITY: Belongs to the peptidase S8 family. Furin subfamily.
SIMILARITY: Contains 1 homo B/P domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FURIN
Diseases sorted by gene-association score: avian influenza (25), influenza (17), diphtheria (15), dementia, familial british (14), anthrax disease (13), hereditary amyloidosis (10), smith-mccort dysplasia (9), ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive (9), schwartz-jampel syndrome, type 1 (7), borna disease (6), mental retardation, x-linked, syndromic, hedera type (6), corneal dystrophy, subepithelial mucinous (5), persistent mullerian duct syndrome (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 111.99 RPKM in Liver
Total median expression: 1375.24 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -128.10283-0.453 Picture PostScript Text
3' UTR -659.401579-0.418 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006212 - Furin_repeat
IPR008979 - Galactose-bd-like
IPR009030 - Growth_fac_rcpt
IPR000209 - Peptidase_S8/S53
IPR023827 - Peptidase_S8_Asp-AS
IPR022398 - Peptidase_S8_His-AS
IPR023828 - Peptidase_S8_Ser-AS
IPR015500 - Peptidase_S8_subtilisin-rel
IPR009020 - Prot_inh_propept
IPR002884 - PrprotnconvertsP

Pfam Domains:
PF00082 - Subtilase family
PF01483 - Proprotein convertase P-domain
PF16470 - Peptidase S8 pro-domain

SCOP Domains:
48695 - Multiheme cytochromes
49785 - Galactose-binding domain-like
52743 - Subtilisin-like
54897 - Protease propeptides/inhibitors
57586 - TNF receptor-like
57184 - Growth factor receptor domain

ModBase Predicted Comparative 3D Structure on P09958
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0004175 endopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity
GO:0042277 peptide binding
GO:0046872 metal ion binding
GO:0048406 nerve growth factor binding

Biological Process:
GO:0006465 signal peptide processing
GO:0006508 proteolysis
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0008283 cell proliferation
GO:0009966 regulation of signal transduction
GO:0010951 negative regulation of endopeptidase activity
GO:0016485 protein processing
GO:0016486 peptide hormone processing
GO:0019058 viral life cycle
GO:0019082 viral protein processing
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030574 collagen catabolic process
GO:0031638 zymogen activation
GO:0032804 negative regulation of low-density lipoprotein particle receptor catabolic process
GO:0032902 nerve growth factor production
GO:0032911 negative regulation of transforming growth factor beta1 production
GO:0032940 secretion by cell
GO:0042176 regulation of protein catabolic process
GO:0043043 peptide biosynthetic process
GO:0044267 cellular protein metabolic process
GO:0045714 regulation of low-density lipoprotein particle receptor biosynthetic process
GO:0051004 regulation of lipoprotein lipase activity
GO:0051044 positive regulation of membrane protein ectodomain proteolysis
GO:0052548 regulation of endopeptidase activity
GO:0070268 cornification
GO:0090472 dibasic protein processing
GO:0097341 zymogen inhibition
GO:0032904 negative regulation of nerve growth factor production

Cellular Component:
GO:0000139 Golgi membrane
GO:0005576 extracellular region
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005796 Golgi lumen
GO:0005802 trans-Golgi network
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030140 trans-Golgi network transport vesicle
GO:0045121 membrane raft
GO:0070062 extracellular exosome
GO:0005615 extracellular space


-  Descriptions from all associated GenBank mRNAs
  LF207740 - JP 2014500723-A/15243: Polycomb-Associated Non-Coding RNAs.
LP858654 - Sequence 5 from Patent WO2017141032.
X17094 - Human fur mRNA for furin.
JD448989 - Sequence 430013 from Patent EP1572962.
LF368521 - JP 2014500723-A/176024: Polycomb-Associated Non-Coding RNAs.
JD373685 - Sequence 354709 from Patent EP1572962.
BC012181 - Homo sapiens furin (paired basic amino acid cleaving enzyme), mRNA (cDNA clone MGC:20463 IMAGE:4550620), complete cds.
AB527780 - Synthetic construct DNA, clone: pF1KB5733, Homo sapiens FURIN gene for furin, without stop codon, in Flexi system.
KJ897289 - Synthetic construct Homo sapiens clone ccsbBroadEn_06683 FURIN gene, encodes complete protein.
LF368520 - JP 2014500723-A/176023: Polycomb-Associated Non-Coding RNAs.
LF368519 - JP 2014500723-A/176022: Polycomb-Associated Non-Coding RNAs.
LF368518 - JP 2014500723-A/176021: Polycomb-Associated Non-Coding RNAs.
AL110107 - Homo sapiens EST from clone 69738, 5' end.
LF368516 - JP 2014500723-A/176019: Polycomb-Associated Non-Coding RNAs.
LF368515 - JP 2014500723-A/176018: Polycomb-Associated Non-Coding RNAs.
S65442 - furin [human, LoVo cells, mRNA Partial Mutant, 224 nt].
LF368514 - JP 2014500723-A/176017: Polycomb-Associated Non-Coding RNAs.
KY966273 - Homo sapiens cell line 93T449 FURIN/ADAMTS1 fusion mRNA, partial sequence.
KY966294 - Homo sapiens cell line 94T778 FURIN/ADAMTS1 fusion mRNA, partial sequence.
LF368513 - JP 2014500723-A/176016: Polycomb-Associated Non-Coding RNAs.
JD086337 - Sequence 67361 from Patent EP1572962.
BC008295 - Homo sapiens, clone IMAGE:4025492, mRNA.
JD251677 - Sequence 232701 from Patent EP1572962.
JD044531 - Sequence 25555 from Patent EP1572962.
JD125324 - Sequence 106348 from Patent EP1572962.
JD104820 - Sequence 85844 from Patent EP1572962.
JD313264 - Sequence 294288 from Patent EP1572962.
JD205210 - Sequence 186234 from Patent EP1572962.
JD209186 - Sequence 190210 from Patent EP1572962.
JD148784 - Sequence 129808 from Patent EP1572962.
JD381108 - Sequence 362132 from Patent EP1572962.
JD155696 - Sequence 136720 from Patent EP1572962.
JD534551 - Sequence 515575 from Patent EP1572962.
JD055486 - Sequence 36510 from Patent EP1572962.
JD058354 - Sequence 39378 from Patent EP1572962.
JD252777 - Sequence 233801 from Patent EP1572962.
JD464632 - Sequence 445656 from Patent EP1572962.
JD460039 - Sequence 441063 from Patent EP1572962.
JD132175 - Sequence 113199 from Patent EP1572962.
JD148870 - Sequence 129894 from Patent EP1572962.
JD338338 - Sequence 319362 from Patent EP1572962.
JD416105 - Sequence 397129 from Patent EP1572962.
JD537203 - Sequence 518227 from Patent EP1572962.
JD141990 - Sequence 123014 from Patent EP1572962.
LF368512 - JP 2014500723-A/176015: Polycomb-Associated Non-Coding RNAs.
JD157979 - Sequence 139003 from Patent EP1572962.
JD205774 - Sequence 186798 from Patent EP1572962.
JD142499 - Sequence 123523 from Patent EP1572962.
JD376166 - Sequence 357190 from Patent EP1572962.
JD369048 - Sequence 350072 from Patent EP1572962.
JD376959 - Sequence 357983 from Patent EP1572962.
JD390633 - Sequence 371657 from Patent EP1572962.
JD525402 - Sequence 506426 from Patent EP1572962.
JD385955 - Sequence 366979 from Patent EP1572962.
MA604098 - JP 2018138019-A/176024: Polycomb-Associated Non-Coding RNAs.
MA604097 - JP 2018138019-A/176023: Polycomb-Associated Non-Coding RNAs.
MA604096 - JP 2018138019-A/176022: Polycomb-Associated Non-Coding RNAs.
MA604095 - JP 2018138019-A/176021: Polycomb-Associated Non-Coding RNAs.
MA604093 - JP 2018138019-A/176019: Polycomb-Associated Non-Coding RNAs.
MA604092 - JP 2018138019-A/176018: Polycomb-Associated Non-Coding RNAs.
MA604091 - JP 2018138019-A/176017: Polycomb-Associated Non-Coding RNAs.
MA604090 - JP 2018138019-A/176016: Polycomb-Associated Non-Coding RNAs.
MA604089 - JP 2018138019-A/176015: Polycomb-Associated Non-Coding RNAs.
MA443317 - JP 2018138019-A/15243: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_notchpathway - Proteolysis and Signaling Pathway of Notch

Reactome (by CSHL, EBI, and GO)

Protein P09958 (Reactome details) participates in the following event(s):

R-HSA-159728 Furin cleaves pro-prothrombin to prothrombin
R-HSA-159733 Furin cleaves pro-factor X to factor X
R-HSA-159771 Furin cleaves pro-protein C to protein C
R-HSA-159773 Furin cleaves pro-protein S to protein S
R-HSA-159796 Furin cleaves pro-factor IX to factor IX
R-HSA-159868 Furin cleaves pro-factor VII to factor VII
R-HSA-163798 Furin cleaves pro-protein Z to protein Z
R-HSA-163843 Furin cleaves pro-GAS6 to GAS6
R-HSA-170844 Latent TGF-beta-1 is cleaved by furin
R-HSA-171288 Cleavage of the viral Env gp160 precursor polyprotein
R-HSA-186785 PDGF-AA clevage by Furin
R-HSA-1602466 Activation of MT-MMPs by FURIN
R-HSA-1602484 Activation of proMMP11 by FURIN
R-HSA-1912369 NOTCH precursor cleaved to form mature NOTCH
R-HSA-1912372 Fringe-modified Pre-NOTCH is cleaved by FURIN
R-HSA-6807224 Furin cleaves pro-BGLAP to BGLAP
R-HSA-8865275 PDGF-BB clevage by Furin
R-HSA-8865276 PDGF-AB clevage by Furin
R-HSA-2129357 Fibrillin C-terminal processing
R-HSA-2172405 Collagen type XXIII ectodomain shedding
R-HSA-2471842 Collagen type XXV ectomain shedding
R-HSA-5210912 Furin cleaves ANTXR2-bound PA83 to yield PA63
R-HSA-5210935 Furin cleaves ANTXR1-bound PA83 to yield PA63
R-HSA-1181152 Cleavage of NODAL proprotein
R-HSA-6784628 PCSK6,FURIN mediate dissociation of 2 x LPL from GPIHBP1:HSPG:LPL dimer
R-HSA-8849797 Membrane proteases cleave Profilaggrin producing Filaggrin
R-HSA-187020 Part of pro-beta-NGF is processed to mature beta-NGF
R-HSA-159782 Removal of aminoterminal propeptides from gamma-carboxylated proteins
R-HSA-2173789 TGF-beta receptor signaling activates SMADs
R-HSA-171286 Synthesis and processing of ENV and VPU
R-HSA-186797 Signaling by PDGF
R-HSA-1592389 Activation of Matrix Metalloproteinases
R-HSA-1912420 Pre-NOTCH Processing in Golgi
R-HSA-977225 Amyloid fiber formation
R-HSA-1566948 Elastic fibre formation
R-HSA-1442490 Collagen degradation
R-HSA-5210891 Uptake and function of anthrax toxins
R-HSA-159854 Gamma-carboxylation, transport, and amino-terminal cleavage of proteins
R-HSA-170834 Signaling by TGF-beta Receptor Complex
R-HSA-175474 Assembly Of The HIV Virion
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1912422 Pre-NOTCH Expression and Processing
R-HSA-392499 Metabolism of proteins
R-HSA-1181150 Signaling by NODAL
R-HSA-8963889 Assembly of active LPL and LIPC lipase complexes
R-HSA-6809371 Formation of the cornified envelope
R-HSA-1474244 Extracellular matrix organization
R-HSA-5339562 Uptake and actions of bacterial toxins
R-HSA-163841 Gamma carboxylation, hypusine formation and arylsulfatase activation
R-HSA-9006936 Signaling by TGF-beta family members
R-HSA-162599 Late Phase of HIV Life Cycle
R-HSA-162582 Signal Transduction
R-HSA-157118 Signaling by NOTCH
R-HSA-167060 NGF processing
R-HSA-1266738 Developmental Biology
R-HSA-8963899 Plasma lipoprotein remodeling
R-HSA-6805567 Keratinization
R-HSA-5663205 Infectious disease
R-HSA-597592 Post-translational protein modification
R-HSA-162587 HIV Life Cycle
R-HSA-9036866 Expression and Processing of Neurotrophins
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-1643685 Disease
R-HSA-162906 HIV Infection
R-HSA-166520 Signaling by NTRKs
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000268171.1, ENST00000268171.2, ENST00000268171.3, ENST00000268171.4, ENST00000268171.5, ENST00000268171.6, ENST00000268171.7, FUR , FURIN , FURIN_HUMAN, NM_002569, P09958, PACE, PCSK3, Q14336, Q6LBS3, Q9UCZ5, uc317inc.1, uc317inc.2
UCSC ID: ENST00000268171.8_4
RefSeq Accession: NM_002569.4
Protein: P09958 (aka FURIN_HUMAN or FURI_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.