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UniProt functional annotation for P29120 | ||
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| UniProt code: P29120. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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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, insulin and AGRP. {ECO:0000250|UniProtKB:P63239}. |
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| Catalytic activity: | |
Reaction=Release of protein hormones, neuropeptides and renin from their precursors, generally by hydrolysis of -Lys-Arg-|- bonds.; EC=3.4.21.93; |
| Cofactor: | |
Name=Ca(2+); Xref=ChEBI:CHEBI:29108; |
| Subcellular location: | |
Cytoplasmic vesicle, secretory vesicle. Note=Localized in the secretion granules. |
| Ptm: | |
O-glycosylated. {ECO:0000269|PubMed:23234360}. |
| Polymorphism: | |
Genetic variations in PCSK1 define the body mass index quantitative trait locus 12 (BMIQ12) [MIM:612362]. Variance in body mass index is a susceptibility factor for obesity. {ECO:0000269|PubMed:18604207}. |
| Disease: | |
Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]: Characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones. {ECO:0000269|PubMed:14617756, ECO:0000269|PubMed:17595246, ECO:0000269|PubMed:9207799}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the peptidase S8 family. Furin subfamily. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.