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    FURIN furin, paired basic amino acid cleaving enzyme [ Homo sapiens (human) ]

    Gene ID: 5045, updated on 19-Sep-2021

    Summary

    Official Symbol
    FURINprovided by HGNC
    Official Full Name
    furin, paired basic amino acid cleaving enzymeprovided by HGNC
    Primary source
    HGNC:HGNC:8568
    See related
    Ensembl:ENSG00000140564 MIM:136950
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FUR; PACE; SPC1; PCSK3
    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]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
    Expression
    Ubiquitous expression in salivary gland (RPKM 50.5), liver (RPKM 36.0) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FURIN in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (90868588..90883457)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (91411818..91426687)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370969 Neighboring gene Sharpr-MPRA regulatory region 4312 Neighboring gene RNA, 7SL, cytoplasmic 363, pseudogene Neighboring gene Sharpr-MPRA regulatory regions 3826 and 8172 Neighboring gene FES proto-oncogene, tyrosine kinase Neighboring gene mannosidase alpha class 2A member 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available
    Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of furin (paired basic amino acid cleaving enzyme) in human B cells PubMed
    Envelope surface glycoprotein gp160, precursor env PAR1 inhibits the cleavage of HIV-1 gp160 to gp41 by furin PubMed
    env Furin, a subtilisin-like eukaryotic endoprotease, is able to process HIV-1 gp160/gp140 to the cleavage products gp120 and gp41 at the cleavage site with the consensus amino acid sequence Arg-X-Lys/Arg-Arg PubMed
    env Interaction between gp120 C5 region and gp41 disulfide loop in unprocessed HIV-1 Env glycoprotein is required for Env processing by furin PubMed
    env V38M + N43T-N44K mutations impairs gPr160 cleavage by furin PubMed
    Tat tat Furin cleaves HIV-1 Tat at amino acid residue 56, resulting in greatly reduced Tat transactivation activity PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nerve growth factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables serine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables serine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in amyloid fibril formation TAS
    Traceable Author Statement
    more info
     
    involved_in blastocyst formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collagen catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in dibasic protein processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    involved_in extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of inflammatory response to antigenic stimulus TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of low-density lipoprotein particle receptor catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in negative regulation of nerve growth factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transforming growth factor beta1 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nerve growth factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptide hormone processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in peptide hormone processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of membrane protein ectodomain proteolysis IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of transforming growth factor beta1 activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within protein processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cholesterol transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of lipoprotein lipase activity TAS
    Traceable Author Statement
    more info
     
    involved_in regulation of protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in secretion by cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal peptide processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal peptide processing TAS
    Traceable Author Statement
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in viral life cycle IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in viral protein processing TAS
    Traceable Author Statement
    more info
     
    involved_in zymogen activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
     
    located_in Golgi membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    NOT located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in integral component of Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in trans-Golgi network transport vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    furin
    Names
    FES upstream region
    dibasic processing enzyme
    furin, membrane associated receptor protein
    paired basic amino acid residue-cleaving enzyme
    proprotein convertase subtilisin/kexin 3
    proprotein convertase subtilisin/kexin type 3
    subtilisin-like proprotein convertase 1
    NP_001276752.1
    NP_001276753.1
    NP_001369548.1
    NP_001369549.1
    NP_001369550.1
    NP_001369551.1
    NP_002560.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001289823.2NP_001276752.1  furin isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001276752.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC124248
      Consensus CDS
      CCDS10364.1
      UniProtKB/Swiss-Prot
      P09958
      UniProtKB/TrEMBL
      A0A024RC70
      Related
      ENSP00000484952.1, ENST00000610579.4
      Conserved Domains (4) summary
      cd04059
      Location:113402
      Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases
      smart00261
      Location:638675
      FU; Furin-like repeats
      pfam01483
      Location:484570
      P_proprotein; Proprotein convertase P-domain
      pfam16470
      Location:33107
      S8_pro-domain; Peptidase S8 pro-domain
    2. NM_001289824.2NP_001276753.1  furin isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001276753.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC124248
      Consensus CDS
      CCDS10364.1
      UniProtKB/Swiss-Prot
      P09958
      UniProtKB/TrEMBL
      A0A024RC70
      Related
      ENSP00000483552.1, ENST00000618099.4
      Conserved Domains (4) summary
      cd04059
      Location:113402
      Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases
      smart00261
      Location:638675
      FU; Furin-like repeats
      pfam01483
      Location:484570
      P_proprotein; Proprotein convertase P-domain
      pfam16470
      Location:33107
      S8_pro-domain; Peptidase S8 pro-domain
    3. NM_001382619.1NP_001369548.1  furin isoform 1 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC124248
      Conserved Domains (4) summary
      cd04059
      Location:113402
      Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases
      smart00261
      Location:638675
      FU; Furin-like repeats
      pfam01483
      Location:484570
      P_proprotein; Proprotein convertase P-domain
      pfam16470
      Location:33107
      S8_pro-domain; Peptidase S8 pro-domain
    4. NM_001382620.1NP_001369549.1  furin isoform 1 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC124248
      Related
      ENSP00000506143.1, ENST00000680053.1
      Conserved Domains (4) summary
      cd04059
      Location:113402
      Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases
      smart00261
      Location:638675
      FU; Furin-like repeats
      pfam01483
      Location:484570
      P_proprotein; Proprotein convertase P-domain
      pfam16470
      Location:33107
      S8_pro-domain; Peptidase S8 pro-domain
    5. NM_001382621.1NP_001369550.1  furin isoform 1 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC124248
      Conserved Domains (4) summary
      cd04059
      Location:113402
      Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases
      smart00261
      Location:638675
      FU; Furin-like repeats
      pfam01483
      Location:484570
      P_proprotein; Proprotein convertase P-domain
      pfam16470
      Location:33107
      S8_pro-domain; Peptidase S8 pro-domain
    6. NM_001382622.1NP_001369551.1  furin isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC124248
      Conserved Domains (3) summary
      cd04059
      Location:113402
      Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases
      pfam01483
      Location:484570
      P_proprotein; Proprotein convertase P-domain
      pfam16470
      Location:33107
      S8_pro-domain; Peptidase S8 pro-domain
    7. NM_002569.4NP_002560.1  furin isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_002560.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC124248, BC012181, BM043834, BP283962, X17094
      Consensus CDS
      CCDS10364.1
      UniProtKB/Swiss-Prot
      P09958
      UniProtKB/TrEMBL
      A0A024RC70
      Related
      ENSP00000268171.2, ENST00000268171.8
      Conserved Domains (4) summary
      cd04059
      Location:113402
      Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases
      smart00261
      Location:638675
      FU; Furin-like repeats
      pfam01483
      Location:484570
      P_proprotein; Proprotein convertase P-domain
      pfam16470
      Location:33107
      S8_pro-domain; Peptidase S8 pro-domain

    RNA

    1. NR_168464.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC124248
      Related
      ENST00000681804.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      90868588..90883457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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