Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PCSK1 contributors: mct - updated : 23/09/2008
HGNC name proprotein convertase subtilisin/kexin type 1
HGNC id 8743
Corresponding disease
OBS10 extreme obesity with a defective prohormone processing
Location 5q15-q21      Physical location : 95.726.039 - 95.768.985
Synonym name neuroendocrine convertase 1,protein convertase 1/3
Synonym symbol(s) NEC1, PC1, PC3, SKI1
EC.number 3.4.21.93
DNA
TYPE functioning gene
STRUCTURE 42.83 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
LOC391811 5 similar to DNA polymerase delta subunit 2 NR2F1 5q14 nuclear receptor subfamily 2, group F, member 1 LOC389309 5 LOC389309 DKFZP564D172 5q15 hypothetical protein DKFZp564D172 FLJ25680 5q15 hypothetical protein FLJ25680 FLJ12078 5q15 hypothetical protein FLJ12078 KIAA0825 5q15 KIAA0825 protein MGC34713 5q15 hypothetical protein MGC34713 DKFZp761C121 5q15 hypothetical protein DKFZp761C121 FLJ22344 5q15 hypothetical protein FLJ22344 LOC389310 5 LOC389310 FLJ25333 5q15 hypothetical protein FLJ25333 KIAA0372 5q13-q15 hypothetical protein FLJ25333 DKFZp313G1735 5q15 hypothetical protein DKFZp313G1735 LOC285601 5q15 seven transmembrane helix receptor LOC285601 LOC317671 5q15 LOC317671 SPATA9 5q15 spermatogenesis associated 9 RHOBTB3 5q21.2 Rho-related BTB domain containing 3 GLRX 5q14 glutaredoxin (thioltransferase) FIS 5q15 FIS ELL2 1q21-q25 elongation factor, RNA polymerase II, 2 PCSK1 5q15-q21 proprotein convertase subtilisin/kexin type 1 LOC389311 5 LOC389311 CAST 5q15-q21 calpastatin ARTS-1 5q15 type 1 tumor necrosis factor receptor shedding aminopeptidase regulator LRAP 16 leukocyte-derived arginine aminopeptidase FLJ39485 5q15 hypothetical protein FLJ39485 LNPEP 5q21 leucyl/cystinyl aminopeptidase FLJ25534 5q15 hypothetical protein FLJ25534 RIOK2 5q14 RIO kinase 2 (yeast) LOC391812 5 similar to Dermatomyositis associated with cancer putative autoantigen-1 (DACA-1) LOC391813 5 similar to Zinc finger DHHC domain containing protein 3 (Zinc finger protein 373) (DHHC1 protein) LOC389312 5 similar to Proteasome activator complex subunit 2 (Proteasome activator 28-beta subunit) (PA28beta) (PA28b) (Activator of multicatalytic protease subunit 2) (11S regulator complex beta subunit) (REG-beta) LOC391814 5 similar to cytoplasmic beta-actin MRPS35P2 5q15 mitochondrial ribosomal protein S35 pseudogene 2 LOC285703 5q21.1 similar to C-terminal binding protein 2 isoform 2; ribeye LOC391815 5 similar to ATP-dependent RNA helicase DDX18 (DEAD-box protein 18) (Myc-regulated DEAD-box protein) (MrDb) FLJ90406 CHD1 5q15-q21 chromodomain helicase DNA binding protein 1 LOC389313 5 LOC389313 LOC256055 5q21.1 similar to Beta-glucuronidase precursor (Beta-G1)
RNA
TRANSCRIPTS type messenger
text multiple alternatively spliced transcript variants
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 5054 - 753 - Benzinou (2008)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary  highly
 pancreas   highly
nervousbraindiencephalon   
Nervousnervespinal nervesciatic  
Visualeyeretina   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Epithelialsecretoryglandularendocrine 
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
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(hemo B) domain,
  • a furin cysteine-rich region,
  • a transmembrane anchor and a cytoplasmic domain
  • C-terminus translocated across the endoplasmic reticulum membrane
  • isoforms Precursor autocatalytically activated
    HOMOLOGY
    Homologene
    FAMILY proprotein convertase subtilisin kexin-like (SPC) subtilase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    text secretory granules
    basic FUNCTION
  • endopeptidase involved in proteolytic processing of peptide hormone precursors in granules of the regulated secretory pathway of endocrine cells
  • specifically cleaving BDNF, processing of hormones and other proteins
  • type I proinsulin-processing enzyme that plays a key role in regulating insulin biosynthesis
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    cell-cell signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PAX6 directly bound to and activated the prohormone convertase 1/3 (PCSK1, PCSK2, FURIN) gene promoter and subsequently regulated proinsulin processing
  • cell & other
    REGULATION
    activated by upregulated during early phase of liver regeneration
    ASSOCIATED DISORDERS
    corresponding disease(s) OBS10
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    decreased hypothalamic PCSK1, PCSK2, FURIN in huntington disease patients
    Susceptibility
  • to non insulin dependent diabetes (type II) and coronary artery disease
  • to obesity
  • Variant & Polymorphism other N221D, and Q665E-S690T pair, associated with obesity in adults and children
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS