Literature summary for 3.4.21.93 extracted from

Farooqi, I.S.; Volders, K.; Stanhope, R.; Heuschkel, R.; White, A.; Lank, E.; Keogh, J.; ORahilly, S.; Creemers, J.W.
Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3 (2007), J. Clin. Endocrinol. Metab., 92, 3369-3373.

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Application

Application	Comment	Organism
medicine	extension of the clinical and molecular spectrum of human congenital PC1/3 deficiency	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
mutant expressed in HEK-293 an betaTC3 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
S307L	naturally occurring mutation (patient homozygous for the mutation). Markedly impairs catalytic activity, intracellular trafficking appears normal. Retains some autocatalytic activity, even though it is completely inactive on other substrates. Patient has obesity and persistent diarrhea, but no history of reactive hypoglycemia. Hyperphagia makes a major contribution to the obesity in this syndrome	Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da]	Molecular Weight Maximum [Da]	Comment	Organism
94000	-	wild-type, intact propeptide, immunoprecipitation	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	6 year old boy of Libyan origin	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
pGlu-Arg-Thr-Arg-Arg-7-amido-4-methylcoumarin + H2O	-	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
PC1/3	-	Homo sapiens
prohormone convertase 1/3	-	Homo sapiens

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Release 2023.1 (January 2023)