Cloned (Comment) | Organism |
---|---|
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 | Comment | Organism |
---|---|---|
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] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|
0.12 | - |
UDP-glucose | recombinant mutant S135L, pH 8.7, 42-48°C | Homo sapiens | |
0.21 | - |
UDP-glucose | recombinant wild-type, pH 8.7, 42-48°C | Homo sapiens | |
0.57 | - |
alpha-D-galactose 1-phosphate | recombinant wild-type, pH 8.7, 42-48°C | Homo sapiens | |
0.64 | - |
alpha-D-galactose 1-phosphate | recombinant mutant S135L, pH 8.7, 42-48°C | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Purification (Comment) | Organism |
---|---|
recombinant His-tagged wild-type and mutant S135L from yeast, to near homogeneity | Homo sapiens |
Reaction | Comment | Organism | Reaction ID |
---|---|---|---|
UDP-alpha-D-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-alpha-D-galactose | active site nucleophil H166 | Homo sapiens |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
12 | - |
purified recombinant enzyme mutant S135L | Homo sapiens |
122 | - |
purified recombinant wild-type enzyme | Homo sapiens |
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 | |
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 | Comment | Organism |
---|---|---|
GALT | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
42 | 48 | recombinant wild-type and mutant S135L | Homo sapiens |
Temperature Minimum [°C] | Temperature Maximum [°C] | Comment | Organism |
---|---|---|---|
additional information | - |
activation energy, temperature profile | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
8.7 | - |
assay at | Homo sapiens |