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FURIN (Furin)
FEATURES
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FAMILY
DESCRIPTION
Also known as FURIN_HUMAN, FURIN, FUR, PACE, PCSK3. Ubiquitous endoprotease within constitutive secretory pathways capable of cleavage at the RX(K/R)R consensus motif (PubMed:11799113, PubMed:1629222, PubMed:1713771, PubMed:2251280, PubMed:24666235, PubMed:25974265, PubMed:7592877, PubMed:7690548, PubMed:9130696). Mediates processing of TGFB1, an essential step in TGF-beta-1 activation (PubMed:7737999)., (Microbial infection) Probably cleaves and activates anthrax and diphtheria toxins., (Microbial infection) Required for H7N1 and H5N1 influenza virus infection probably by cleaving hemagglutinin., (Microbial infection) Able to cleave S.pneumoniae serine-rich repeat protein PsrP. Interacts with FLNA (By similarity). Binds to PACS1 which mediates TGN localization and connection to clathrin adapters (PubMed:11331585).
Also known as FURIN_HUMAN, FURIN, FUR, PACE, PCSK3. Ubiquitous endoprotease within constitutive secretory pathways capable of cleavage at the RX(K/R)R consensus motif (PubMed:11799113, PubMed:1629222, PubMed:1713771, PubMed:2251280, PubMed:24666235, PubMed:25974265, PubMed:7592877, PubMed:7690548, PubMed:9130696). Mediates processing of TGFB1, an e ...

Germline Genetics

Summary of germline evidence for FURIN and cancer

  • Ensembl Gene ID: ENSG00000140564
  • Ensembl Transcript ID/s: ENST00000268171; ENST00000610579; ENST00000618099
  • Entrez Gene ID: 5045
  • HGNC Gene Symbol: FURIN

Genome-wide association studies

FURIN maps to cancer-SNP associations according to the following annotations:

SNPLocusPosition (b37)Risk alleleRAFP-valueEffect sizeCICancerPMIDCatalogTADLSDEPICT
2213_rs77554484 15q26.1 91509215 rs77554484-A 0.1319 1E-15 0.0741 [0.056-0.092] unit decrease Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs77554484 15:90740000-91500000 - -
2634_rs77554484 15q26.1 91509215 rs77554484-A 0.1319 1E-15 0.0741 [0.056-0.092] unit decrease Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs77554484 15:90740000-91500000 - -
728_rs2290203 15q26.1 91512067 rs2290203-G 0.79 8E-10 1.0638298 [1.04-1.09] (Oncoarray) Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs2290203 15:90740000-91500000 - -
2300_rs2290203 15q26.1 91512067 rs2290203-G 0.79 8E-10 1.0638298 [1.04-1.09] (Oncoarray) Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs2290203 15:90740000-91500000 - -
769_rs2290203 15q26.1 91512067 rs2290203-G 0.504 4E-8 1.08 [1.05-1.11] Breast cancer 25038754 https://www.ebi.ac.uk/gwas/search?query=rs2290203 15:90740000-91500000 - -