PCSK1
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.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
O-glycosylated.
Sequence Similarities
Belongs to the peptidase S8 family. Furin subfamily.
Cellular localization
- Cytoplasmic vesicle
- Secretory vesicle
- Localized in the secretion granules.
Alternative names
NEC1, PCSK1, Neuroendocrine convertase 1, NEC 1, Prohormone convertase 1, Proprotein convertase 1, PC1