Cloned (Comment) | Organism |
---|---|
expression of N314D mutants in human lymphoblasts | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
E203K | native heterozygous mutant, reduced activity by about 50% in erythrocytes | Homo sapiens |
N314D | native missense mutant Duarte D, homozygous, characteristic isoform, partial impairment of enzyme activity in human erythrocytes, fibroblasts, and transformed lymphoblasts, reduced Vmax, increased thermal lability | Homo sapiens |
N314D/E203K | homozygous N314D mutant with introduced cis mutation E203K does no longer show the reduced, but the full activity and increased thermolablity of mutant without E203K | Homo sapiens |
Inhibitors | Comment | Organism | Structure |
---|---|---|---|
cycloheximide | i.e. 3-[2-(3,5-dimethyl-2-oxocyclohexyl)-2-hydroxyethyl]glutarimide; inhibition of de novo enzyme synthesis; mutant N314D is more sensitive than the wild-type | Homo sapiens |
KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|
0.13 | - |
UDP-glucose | wild-type from lymphoblasts, 37°C | Homo sapiens | |
0.14 | - |
UDP-glucose | N314D homozygous mutant from lymphoblasts, 37°C | Homo sapiens | |
0.2 | - |
UDP-glucose | wild-type from erythrocytes, 37°C | Homo sapiens |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
86000 | - |
nondenaturing PAGE | 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 | - |
missense mutant N314D, Duarte allele | - |
Purification (Comment) | Organism |
---|---|
70600fold from erythrocytes | 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 | reaction mechanism of Duarte mutant N314D | Homo sapiens |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
erythrocyte | - |
Homo sapiens | - |
fibroblast | - |
Homo sapiens | - |
lymphoblast | - |
Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
additional information | - |
activity in different genotypes | Homo sapiens |
16.8 | - |
purified 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 |
---|---|---|---|
37 | - |
assay at | Homo sapiens |
Temperature Stability Minimum [°C] | Temperature Stability Maximum [°C] | Comment | Organism |
---|---|---|---|
additional information | - |
increased thermal lability of the mutant N314D compared to the wild-type | Homo sapiens |
50 | - |
15 min, 30% loss of activity for the wild-type enzyme, over 55% loss of activity for the homozygous N314D mutant | Homo sapiens |