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Literature summary for 2.7.7.12 extracted from
- Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia (1997), J. Inherit. Metab. Dis., 20, 633-642.
Cloned(Commentary)
| 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
| 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 [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/ Products (Substrates)
| 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
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Purification (Commentary)
| Purification (Comment) | Organism |
|---|---|
| recombinant His-tagged wild-type and mutant S135L from yeast, to near homogeneity | 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 | active site nucleophil H166 | Homo sapiens |
Specific Activity [micromol/min/mg]
| 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 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 | |
| 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
| Synonyms | Comment | Organism |
|---|---|---|
| GALT | - |
Homo sapiens |
Temperature Optimum [°C]
| Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
|---|---|---|---|
| 42 | 48 | recombinant wild-type and mutant S135L | Homo sapiens |
Temperature Range [°C]
| Temperature Minimum [°C] | Temperature Maximum [°C] | Comment | Organism |
|---|---|---|---|
| additional information | - |
activation energy, temperature profile | Homo sapiens |
pH Optimum
| pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
|---|---|---|---|
| 8.7 | - |
assay at | Homo sapiens |
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