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MGP002219

UniProt Annotations

Entry Information
Gene Nameproprotein convertase subtilisin/kexin type 1
Protein EntryNEC1_HUMAN
UniProt IDP29120
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P29120-1; Sequence=Displayed; Name=2; IsoId=P29120-2; Sequence=VSP_046100; Note=No experimental confirmation available.;
Catalytic ActivityRelease of protein hormones, neuropeptides and renin from their precursors, generally by hydrolysis of -Lys- Arg-|- bonds.
CofactorName=Ca(2+); Xref=ChEBI:CHEBI:29108;
DiseaseProprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]: Characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small- intestinal absorptive dysfunction It is due to impaired processing of prohormones. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin and insulin.
PolymorphismGenetic variations in PCSK1 define the body mass index quantitative trait locus 12 (BMIQ12) [MIM:612362]. Variance in body mass index is a susceptibility factor for obesity.
PtmO-glycosylated. {ECO:0000269|PubMed:23234360}.
SimilarityBelongs to the peptidase S8 family. Furin subfamily. {ECO:0000305}.
SimilarityContains 1 peptidase S8 domain. {ECO:0000305}.
Subcellular LocationCytoplasmic vesicle, secretory vesicle. Note=Localized in the secretion granules.
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