[1]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1016/0014-5793(92)80169-H; PubMed=1547893 [NCBI, ExPASy, EBI, Israel, Japan]
Creemers J.W.M.,
Roebroek A.J.M.,
van de Ven W.J.M.;
"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).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=1605851 [NCBI, ExPASy, EBI, Israel, Japan]
Seidah N.G.,
Hamelin J.,
Gaspar A.M.,
Day R.,
Chretien M.;
"The cDNA sequence of the human pro-hormone and pro-protein convertase PC1.";
DNA Cell Biol. 11:283-289(1992).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLN-80 AND GLU-665.
PubMed=8666140 [NCBI, ExPASy, EBI, Israel, Japan]
Ohagi S.,
Sakaguchi H.,
Sanke T.,
Tatsuta H.,
Hanabusa T.,
Nanjo K.;
"Human prohormone convertase 3 gene: exon-intron organization and molecular scanning for mutations in Japanese subjects with NIDDM.";
Diabetes 45:897-901(1996).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-60.
DOI=10.1074/jbc.270.25.15391; PubMed=7797529 [NCBI, ExPASy, EBI, Israel, Japan]
Jansen E.;
"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).
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[5]
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VARIANT PC1 DEFICIENCY ARG-483.
DOI=10.1038/ng0797-303; PubMed=9207799 [NCBI, ExPASy, EBI, Israel, Japan]
Jackson R.S.,
Creemers J.W.,
Ohagi S.,
Raffin-Sanson M.-L.,
Sanders L.,
Montague C.T.,
Hutton J.C.,
O'Rahilly S.;
"Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.";
Nat. Genet. 16:303-306(1997).
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[6]
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VARIANTS ASP-221; GLU-665 AND THR-690.
DOI=10.1038/10290; PubMed=10391209 [NCBI, ExPASy, EBI, Israel, Japan]
Cargill M.,
Altshuler D.,
Ireland J.,
Sklar P.,
Ardlie K.,
Patil N.,
Shaw N.,
Lane C.R.,
Lim E.P.,
Kalyanaraman N.,
Nemesh J.,
Ziaugra L.,
Friedland L.,
Rolfe A.,
Warrington J.,
Lipshutz R.,
Daley G.Q.,
Lander E.S.;
"Characterization of single-nucleotide polymorphisms in coding regions of human genes.";
Nat. Genet. 22:231-238(1999).
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[7]
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ERRATUM.
Cargill M.,
Altshuler D.,
Ireland J.,
Sklar P.,
Ardlie K.,
Patil N.,
Shaw N.,
Lane C.R.,
Lim E.P.,
Kalyanaraman N.,
Nemesh J.,
Ziaugra L.,
Friedland L.,
Rolfe A.,
Warrington J.,
Lipshutz R.,
Daley G.Q.,
Lander E.S.;
Nat. Genet. 23:373-373(1999).
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[8]
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VARIANT PC1 DEFICIENCY ALA-213 DEL.
DOI=10.1172/JCI200318784; PubMed=14617756 [NCBI, ExPASy, EBI, Israel, Japan]
Jackson R.S.,
Creemers J.W.,
Farooqi I.S.,
Raffin-Sanson M.-L.,
Varro A.,
Dockray G.J.,
Holst J.J.,
Brubaker P.L.,
Corvol P.,
Polonsky K.S.,
Ostrega D.,
Becker K.L.,
Bertagna X.,
Hutton J.C.,
White A.,
Dattani M.T.,
Hussain K.,
Middleton S.J.,
Nicole T.M., ![]()
Milla P.J.,
Lindley K.J.,
O'Rahilly S.;
"Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.";
J. Clin. Invest. 112:1550-1560(2003).
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- 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 and insulin.
- CATALYTIC ACTIVITY: Release of protein hormones, neuropeptides and renin from their precursors, generally by hydrolysis of -Lys-Arg-|- bonds.
- COFACTOR: Calcium.
- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle. Note=Localized in the secretion granules.
- DISEASE: Defects in PCSK1 are the cause of proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]. PC1 deficiency is characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones.
- SIMILARITY: Belongs to the peptidase S8 family. Furin subfamily [view classification].
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