Literature summary for 2.7.7.12 extracted from

Elsevier, J.P.; Wells, L.; Quimby, B.B.; Fridovich-Keil, J.L.
Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase (1996), Proc. Natl. Acad. Sci. USA, 93, 7166-7171.

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Cloned(Commentary)

Cloned (Comment)	Organism
expression of His- and 12CA5 epitope-tagged subunits of mutants R333W and Q188R in yeast, analysis of homo- and heterodimer formation of wild-type and mutant subunits	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
Q188R	20-30% activity of wild-type activity as heterodimer with wild-type subunit, no activity as homodimer	Homo sapiens
Q188R	native mutant, no enzyme activity in vivo, galactosemia phenotype	Homo sapiens
R333W	native mutant, catalytically inactive, galactosemic phenotype	Homo sapiens
R333W	20-30% activity of wild-type activity as heterodimer with wild-type subunit, no activity as homodimer	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	native galactosemic R333W mutant	-
Homo sapiens	-	native galactosemic Q188R mutant	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
UDP-glucose + alpha-D-galactose 1-phosphate	-	Homo sapiens	alpha-D-glucose 1-phosphate + UDP-galactose	-	r

Subunits

Subunits	Comment	Organism
More	catalytically inactive subunits of mutants R333W and Q188R form normal homo- and heterodimers	Homo sapiens

Synonyms

Synonyms	Comment	Organism
GALT	-	Homo sapiens

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Release 2023.1 (January 2023)