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Literature summary for 2.7.7.12 extracted from

  • Lai, K.; Willis, A.C.; Elsas, L.J.
    The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase (1999), J. Biol. Chem., 274, 6559-6566.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
expression of wild-type and mutants as His-tagged proteins in Escherichia coli Bl21(DE3) Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information
-
Homo sapiens
additional information introduction of Asn and Arg at residue 188, normally Gln, in a three-dimensional model of the Escherichia coli enzyme-UMP-crystal Escherichia coli
Q188N site-directed mutagenesis, reduced activity Homo sapiens
Q188R most common native mutation causing galactosemia in the white population Homo sapiens
Q188R site-directed mutagenesis for expression of the mutant in Escherichia coli, nearly no activity in vitro Homo sapiens
Q188R native mutant, no enzyme activity in vivo, galactosemia phenotype Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
additional information
-
additional information kinetics Homo sapiens
additional information
-
additional information wild-type and mutants in the 2-step reaction Homo sapiens

Organism

Organism UniProt Comment Textmining
Escherichia coli P09148 Protein Data Base: 1HXQ, three-dimensional model of the Escherichia coli enzyme-UMP-crystal
-
Homo sapiens
-
native galactosemic Q188R mutant
-

Purification (Commentary)

Purification (Comment) Organism
recombinant His-tagged wild-type, partial 67fold, and mutants from Escherichia coli Bl21(DE3) Homo sapiens

Reaction

Reaction Comment Organism Reaction ID
UDP-alpha-D-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-alpha-D-galactose mechanism, modeling Homo sapiens

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
0.0006
-
partially purified recombinant mutant Q188R Homo sapiens
0.03
-
partially purified recombinant mutant Q188N Homo sapiens
0.08
-
partially purified recombinant wild-type enzyme Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
UDP-glucose + alpha-D-galactose 1-phosphate 2-step mechanism Homo sapiens alpha-D-glucose 1-phosphate + UDP-galactose
-
r

Synonyms

Synonyms Comment Organism
GALT
-
Homo sapiens