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FLASH GENE
Symbol PCSK5 contributors: mct/npt - updated : 25-05-2018
HGNC name proprotein convertase subtilisin/kexin type 5
HGNC id 8747
Location 9q21.13      Physical location : 78.505.559 - 78.977.254
Synonym name
  • paired basic amino-acid residue cleaving enzyme 5
  • protease PC6
  • subtilisin/kexin-like protease PC5
    • Synonym symbol(s) NEC5, PC5, PC6, SPC6
    EC.number 3.4.21.-
    DNA
    TYPE functioning gene
    STRUCTURE 302.71 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence   other
    text structure 2 silent SNP
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text with multiple alternative forms (c) (Seidah), two alternatively spliced transcripts
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 3369 - 913 - 2018 29126984
    37 - 9538 - 1860 - 2018 29126984
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnervecranial nerveoptic nerve   Homo sapiens
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a preprodomain
  • a subtilisin-like catalytic, serine protease domain Ca2+ dependent, conserved P an (hemo B) domain
  • a furin cysteine-rich region
  • a transmembrane anchor and a cytoplasmic domain
  • a C-terminal cysteine-rich domain (CRD), functioning as a cell surface anchor favoring the processing of their cognate surface-anchored substrates, including endothelial lipase
    • isoforms Precursor autocatalytically activated
    HOMOLOGY
    Homologene
    FAMILY
  • proprotein convertase subtilisin kexin-like (SPC) subtilase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,granule
    text secreted
    basic FUNCTION
  • postranslational endoproteolytic processing for several integrin alpha-1 subunits
  • via GDF11, coordinately regulates the expression of caudal Hox paralogs, to control anteroposterior patterning, nephrogenesis, and limb and anorectal development (Szumska 2008)
  • expression of PCSK5 and GDF11, which plays a crucial role in the organogenesis of the hindgut, was disturbed in the hindgut region when retinoid-mediated signaling was disrupted
  • FURIN, PCSK5, and PCSK6 process two triglyceride lipase family members, endothelial lipase and lipoprotein lipase, which are important for HDL remodeling
  • may have an essential and early role in the cranio-cardiac mesoderm for heart development
    • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    cell-cell signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ANGPTL3 inhibits lipoprotein lipase activity through enhancing its cleavage by PCSK5
  • LTBP2, LTBP3 inhibit the proprotein convertase PCSK5
  • SPP1 is an abundant bone extracellular matrix protein with roles in mineralization, cell adhesion and cell migration, and it has putative consensus sequence sites for cleavage by PCSK5, which may modify its function in bone
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    downregulation of PCSK5 during cloaca development into the rectum and urethra might be related to the formation of anorectal malformations (ARM)
    constitutional germinal mutation      
    in a patient with the VACTERL association
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mouse mutation (Vcc) with a pleiotropic phenotype type VACTERL that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia, resulting from a C470R mutation in the proprotein convertase Pcsk5