PCSK1

The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a type I proinsulin-processing enzyme that plays a key role in regulating insulin biosynthesis. It is also known to cleave proopiomelanocortin, prorenin, proenkephalin, prodynorphin, prosomatostatin and progastrin. Mutations in this gene are thought to cause obesity. This encoded protein is associated with carcinoid tumors. The use of alternate polyadenylation sites has been found for this gene. Multiple alternatively spliced transcript variants have been described for this gene but their full length nature is not known. [provided by RefSeq]

Full Name

proprotein convertase subtilisin/kexin type 1

Function

Involved 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, insulin and AGRP.

Biological Process

Cell-cell signalingManual Assertion Based On ExperimentTAS:ProtInc
NeurogenesisIEA:Ensembl
Pancreas developmentIEA:Ensembl
Peptide biosynthetic processISS:BHF-UCL
Peptide hormone processingManual Assertion Based On ExperimentIBA:GO_Central
Pituitary gland developmentIEA:Ensembl
Positive regulation of protein secretionIEA:Ensembl
Protein autoprocessingIEA:Ensembl
Protein processingManual Assertion Based On ExperimentIBA:GO_Central
ProteolysisManual Assertion Based On ExperimentTAS:ProtInc
Response to axon injuryIEA:Ensembl
Response to calcium ionIEA:Ensembl
Response to chlorateIEA:Ensembl
Response to fatty acidIEA:Ensembl
Response to glucocorticoidIEA:Ensembl
Response to glucoseIEA:Ensembl
Response to interleukin-1IEA:Ensembl
Response to lipopolysaccharideIEA:Ensembl
Response to morphineIEA:Ensembl
Response to nutrient levelsIEA:Ensembl
Response to peptide hormoneIEA:Ensembl
Response to xenobiotic stimulusIEA:Ensembl

Cellular Location

Cytoplasmic vesicle, secretory vesicle
Localized in the secretion granules.

Involvement in disease

Proprotein 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.

PTM

O-glycosylated.