Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1)

PC1, PC3, SPC3; NEC1; Prohormone Convertase 3; Prohormone Convertase 1; Neuroendocrine Convertase 1; Proprotein Convertase 1

SPN	S595
HGNC	8743
MGI	97511
PubMed	21805247
RGD	3272
UniProt	P29120
Wiki	PCSK1

Proprotein Convertase Subtilisin/Kexin Type 1 is aprotein 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.

Reference

"Expression in human lung tumor cells of the proprotein processing enzyme PC1/PC3. Cloning and primary sequence of a 5 kb cDNA."
FEBS Lett. 300:82-88(1992) [PubMed] [Europe PMC] [Abstract]

"The cDNA sequence of the human pro-hormone and pro-protein convertase PC1."
DNA Cell Biol. 11:283-289(1992) [PubMed] [Europe PMC] [Abstract]

"Human prohormone convertase 3 gene: exon-intron organization and molecular scanning for mutations in Japanese subjects with NIDDM."
Diabetes 45:897-901(1996) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and comparative analysis of human chromosome 5."
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]

"Neuroendocrine-specific expression of the human prohormone convertase 1 gene. Hormonal regulation of transcription through distinct cAMP response elements."
J. Biol. Chem. 270:15391-15397(1995) [PubMed] [Europe PMC] [Abstract]

"LC-MS/MS characterization of O-glycosylation sites and glycan structures of human cerebrospinal fluid glycoproteins."
J. Proteome Res. 12:573-584(2013) [PubMed] [Europe PMC] [Abstract]

"Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene."
Nat. Genet. 16:303-306(1997) [PubMed] [Europe PMC] [Abstract]

"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
Nat. Genet. 22:231-238(1999) [PubMed] [Europe PMC] [Abstract]

Erratum
Nat. Genet. 23:373-373(1999)

"Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency."
J. Clin. Invest. 112:1550-1560(2003) [PubMed] [Europe PMC] [Abstract]

"Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3."
J. Clin. Endocrinol. Metab. 92:3369-3373(2007) [PubMed] [Europe PMC] [Abstract]

"Common nonsynonymous variants in PCSK1 confer risk of obesity."
Nat. Genet. 40:943-945(2008) [PubMed] [Europe PMC] [Abstract]