Entity Details

Primary name PCSK1
Entity type gene
Source Source Link

Details

PrimaryID5122
RefseqGeneNG_021161
SymbolPCSK1
Nameproprotein convertase subtilisin/kexin type 1
Chromosome5
Location5q15
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNEC1_HUMAN

GO terms

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GOName
GO:0004252 serine-type endopeptidase activity
GO:0005615 extracellular space
GO:0006508 proteolysis
GO:0007267 cell-cell signaling
GO:0016020 membrane
GO:0016485 protein processing
GO:0016486 peptide hormone processing
GO:0030133 transport vesicle
GO:0034774 secretory granule lumen
GO:0042802 identical protein binding
GO:0043005 neuron projection
GO:0043043 peptide biosynthetic process

Diseases

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Disease IDSourceNameDescription
600955 OMIMProprotein convertase 1 deficiency (PC1 deficiency)Characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones. The disease is caused by variants affecting the gene represented in this entry.