Literature summary for 3.1.3.9 extracted from

Shieh, J.J.; Terzioglu, M.; Hiraiwa, H.; Marsh, J.; Pan, C.J.; Chen, L.Y.; Chou, J.Y.
The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase (2002), J. Biol. Chem., 277, 5047-5053.

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Application

Application	Comment	Organism
medicine	deficiency in enzyme causes glycogen storage disease type 1a	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	structure and function studies of the 48 missence mutations and the F327 codon deletion mutation: the 5 active site mutations and 22 of 31 helical mutations completely abolish enzyme activity, but only 5 of the 13 nonhelical mutants are devoid of activity, a data base of residual enzymatic activity retained by enzyme mutants is obtained	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
endoplasmic reticulum	enzyme is anchored by nine transmembrane helices	Homo sapiens	5783	-

Molecular Weight [Da]

Molecular Weight [Da]	Molecular Weight Maximum [Da]	Comment	Organism
41000	-	Western blot analysis	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
D-glucose 6-phosphate + H2O	Homo sapiens	-	D-glucose + phosphate	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
D-glucose 6-phosphate + H2O	-	Homo sapiens	D-glucose + phosphate	-	?

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Release 2023.1 (January 2023)