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Literature summary for 3.4.21.93 extracted from

  • Wilschanski, M.; Abbasi, M.; Blanco, E.; Lindberg, I.; Yourshaw, M.; Zangen, D.; Berger, I.; Shteyer, E.; Pappo, O.; Bar-Oz, B.; Martin, M.G.; Elpeleg, O.
    A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity (2014), PLoS ONE, 9, e108878.
    View publication on PubMedView publication on EuropePMC
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Protein Variants

Protein Variants Comment Organism
N309K naturally occuring mutation identified in four siblings presenting with congenital diarrhea and various endocrinopathies. The mutation affects the oxyanion hole transition state-stabilizing amino acid within the active site, which is critical for appropriate proprotein maturation and enzyme activity. The N309K mutant protein exhibits normal, though slowed, prodomain removal and is secreted from both HEK-293 and Neuro-2A cells. The secreted enzyme shows no catalytic activity, and is not processed into the 66 kDa form Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
extracellular
-
 Homo sapiens
-
-

Organism

Organism UniProt Comment Textmining
Homo sapiens P29120
-
-

Synonyms

Synonyms Comment Organism
PCSK1
-
 Homo sapiens