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Literature summary extracted from

  • Wells, L.; Fridovich-Keil, J.L.
    Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia (1997), J. Inherit. Metab. Dis., 20, 633-642.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.7.12 overexpression of wild-type and mutant S135L as His-tagged proteins, 2fold lower expression than the wild-type, in a null-background yeast Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.7.12 S135L native mutant, can be found in about 50% of galactosemia patients of African-American descent, 10fold reduced enzyme activity compared to wild-type, no steric or electrochemical changes sufficiently close to the active site to result in partial impairment of the reaction Homo sapiens

KM Value [mM]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
2.7.7.12 0.12
-
 UDP-glucose recombinant mutant S135L, pH 8.7, 42-48°C Homo sapiens
2.7.7.12 0.21
-
 UDP-glucose recombinant wild-type, pH 8.7, 42-48°C Homo sapiens
2.7.7.12 0.57
-
 alpha-D-galactose 1-phosphate recombinant wild-type, pH 8.7, 42-48°C Homo sapiens
2.7.7.12 0.64
-
 alpha-D-galactose 1-phosphate recombinant mutant S135L, pH 8.7, 42-48°C Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.7.7.12 UDP-glucose + alpha-D-galactose 1-phosphate Homo sapiens essential enzyme in galactose metabolism, deficiency causes genetic disorder galactosemia, e.g. mutant Duarte variant alpha-D-glucose 1-phosphate + UDP-galactose
-
 r

Organism

EC Number Organism UniProt Comment Textmining
2.7.7.12 Homo sapiens
-
-
-

Purification (Commentary)

EC Number Purification (Comment) Organism
2.7.7.12 recombinant His-tagged wild-type and mutant S135L from yeast, to near homogeneity Homo sapiens

Reaction

EC Number Reaction Comment Organism Reaction ID
2.7.7.12 UDP-alpha-D-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-alpha-D-galactose active site nucleophil H166 Homo sapiens
a

Specific Activity [micromol/min/mg]

EC Number Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
2.7.7.12 12
-
 purified recombinant enzyme mutant S135L Homo sapiens
2.7.7.12 122
-
 purified recombinant wild-type enzyme Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.7.12 UDP-glucose + alpha-D-galactose 1-phosphate
-
 Homo sapiens alpha-D-glucose 1-phosphate + UDP-galactose
-
 r
2.7.7.12 UDP-glucose + alpha-D-galactose 1-phosphate essential enzyme in galactose metabolism, deficiency causes genetic disorder galactosemia, e.g. mutant Duarte variant Homo sapiens alpha-D-glucose 1-phosphate + UDP-galactose
-
 r

Synonyms

EC Number Synonyms Comment Organism
2.7.7.12 GALT
-
 Homo sapiens

Temperature Optimum [°C]

EC Number Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
2.7.7.12 42 48 recombinant wild-type and mutant S135L Homo sapiens

Temperature Range [°C]

EC Number Temperature Minimum [°C] Temperature Maximum [°C] Comment Organism
2.7.7.12 additional information
-
 activation energy, temperature profile Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
2.7.7.12 8.7
-
 assay at Homo sapiens