Application | Comment | Organism |
---|---|---|
medicine | the enzyme is a target for enzyme replacement therapy of mucopolysaccharidosis type I patients | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
IDUA gene, determination of mutant sequences from mucopolysaccharidosis type I enzymes, genotyping, expression of wild-type and mutant enzymes in CHO cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A79V | naturally occurring mutation in the IDUA gene of a mucopolysaccharidosis type I patient, construction by site-directed mutagenesis for expression in CHO cells, the recombinant mutant shows about 2fold increased activity in CHO cell lysate and altered subcellular localization compared to the recombinant wild-type enzyme | Homo sapiens |
F602I | naturally occurring mutation in the IDUA gene of a mucopolysaccharidosis type I patient, construction by site-directed mutagenesis for expression in CHO cells, the recombinant mutant shows about 5fold increased activity in CHO cell lysate and altered subcellular localization compared to the recombinant wild-type enzyme | Homo sapiens |
G265R | naturally occurring mutation in the IDUA gene of a mucopolysaccharidosis type I patient, construction by site-directed mutagenesis for expression in CHO cells, the recombinant mutant shows reduced activity in CHO cell lysate and altered subcellular localization compared to the recombinant wild-type enzyme | Homo sapiens |
H82Q | naturally occurring mutation in the IDUA gene of a mucopolysaccharidosis type I patient, construction by site-directed mutagenesis for expression in CHO cells, the recombinant mutant shows 8fold increased activity in CHO cell lysate and altered subcellular localization compared to the recombinant wild-type enzyme | Homo sapiens |
L238Q | naturally occurring mutation in the IDUA gene of a mucopolysaccharidosis type I patient, construction by site-directed mutagenesis for expression in CHO cells, the recombinant mutant shows about 3.5fold increased activity in CHO cell lysate and altered subcellular localization compared to the recombinant wild-type enzyme | Homo sapiens |
additional information | identification and molecular characterization of 14 different enzyme mutations and 13 different polymorphic changes present in 10 mucopolysaccharidosis type I patients undergoing enzyme replacement therapy | Homo sapiens |
R363C | naturally occurring mutation in the IDUA gene of a mucopolysaccharidosis type I patient, construction by site-directed mutagenesis for expression in CHO cells, inactive recombinant mutant | Homo sapiens |
S423R | naturally occurring mutation in the IDUA gene of a mucopolysaccharidosis type I patient, construction by site-directed mutagenesis for expression in CHO cells, the recombinant mutant shows 11fold increased activity in CHO cell lysate and altered subcellular localization compared to the recombinant wild-type enzyme | Homo sapiens |
KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|
additional information | - |
additional information | kinetics of wild-type and mutant enzymes, overview | Homo sapiens | |
0.031 | - |
4-methylumbelliferyl alpha-L-iduronide | pH 4.2, 32°C, recombinant wild-type enzyme | Homo sapiens |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
49000 | - |
x * 77000, recombinant wild-tyype enzyme, extracellular secreted precursor enzyme form, SDS-PAGE, x * 74000, recombinant wild-type enzyme, intracellular precursor enzyme form, SDS-PAGE, x * 69000, recombinant wild-type enzyme, intracellular processed enzyme form 1, SDS-PAGE, x * 65000, recombinant wild-type enzyme, intracellular processed enzyme form 2, SDS-PAGE, x * 49000, recombinant wild-type enzyme, intracellular processed enzyme form 3, SDS-PAGE | Homo sapiens |
65000 | - |
x * 77000, recombinant wild-tyype enzyme, extracellular secreted precursor enzyme form, SDS-PAGE, x * 74000, recombinant wild-type enzyme, intracellular precursor enzyme form, SDS-PAGE, x * 69000, recombinant wild-type enzyme, intracellular processed enzyme form 1, SDS-PAGE, x * 65000, recombinant wild-type enzyme, intracellular processed enzyme form 2, SDS-PAGE, x * 49000, recombinant wild-type enzyme, intracellular processed enzyme form 3, SDS-PAGE | Homo sapiens |
69000 | - |
x * 77000, recombinant wild-tyype enzyme, extracellular secreted precursor enzyme form, SDS-PAGE, x * 74000, recombinant wild-type enzyme, intracellular precursor enzyme form, SDS-PAGE, x * 69000, recombinant wild-type enzyme, intracellular processed enzyme form 1, SDS-PAGE, x * 65000, recombinant wild-type enzyme, intracellular processed enzyme form 2, SDS-PAGE, x * 49000, recombinant wild-type enzyme, intracellular processed enzyme form 3, SDS-PAGE | Homo sapiens |
74000 | - |
x * 77000, recombinant wild-tyype enzyme, extracellular secreted precursor enzyme form, SDS-PAGE, x * 74000, recombinant wild-type enzyme, intracellular precursor enzyme form, SDS-PAGE, x * 69000, recombinant wild-type enzyme, intracellular processed enzyme form 1, SDS-PAGE, x * 65000, recombinant wild-type enzyme, intracellular processed enzyme form 2, SDS-PAGE, x * 49000, recombinant wild-type enzyme, intracellular processed enzyme form 3, SDS-PAGE | Homo sapiens |
77000 | - |
x * 77000, recombinant wild-tyype enzyme, extracellular secreted precursor enzyme form, SDS-PAGE, x * 74000, recombinant wild-type enzyme, intracellular precursor enzyme form, SDS-PAGE, x * 69000, recombinant wild-type enzyme, intracellular processed enzyme form 1, SDS-PAGE, x * 65000, recombinant wild-type enzyme, intracellular processed enzyme form 2, SDS-PAGE, x * 49000, recombinant wild-type enzyme, intracellular processed enzyme form 3, SDS-PAGE | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | the enzyme is involved in mucopolysaccharidosis type I | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P35475 | - |
- |
Purification (Comment) | Organism |
---|---|
native and recombinant wild-type and mutant enzymes partially by immunoprecipitation | Homo sapiens |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
skin fibroblast | from healthy humans and mucopolysaccharidosis type I patients | Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
0.0000014 | 0.000027 | mucopolysaccharidosis type I mutant enzymes, immunocapture-enriched from skin fibroblast | Homo sapiens |
0.00003 | 0.000093 | wild-type enzyme, immunocapture-enriched from skin fibroblast | Homo sapiens |
0.0006 | - |
recombinant wild-type enzyme, CHO cells | Homo sapiens |
0.3 | - |
recombinant mutant G265R, CHO cells | Homo sapiens |
0.6 | - |
recombinant wild-type enzyme, CHO cells | Homo sapiens |
1.5 | - |
recombinant mutant A79V, CHO cells | Homo sapiens |
2.1 | - |
recombinant mutant L238Q, CHO cells | Homo sapiens |
2.9 | - |
recombinant mutant F602I, CHO cells | Homo sapiens |
4.8 | - |
recombinant mutant H82Q, CHO cells | Homo sapiens |
6.7 | - |
recombinant mutant S423R, CHO cells | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4-methylumbelliferyl-alpha-L-iduronide + H2O | - |
Homo sapiens | 4-methylumbelliferone + alpha-L-iduronic acid | - |
? | |
alpha-L-iduronosyl(1-4)anhydromannitol-6-sulfate + H2O | - |
Homo sapiens | ? | - |
? | |
additional information | the enzyme is involved in mucopolysaccharidosis type I | Homo sapiens | ? | - |
? |
Subunits | Comment | Organism |
---|---|---|
? | x * 77000, recombinant wild-tyype enzyme, extracellular secreted precursor enzyme form, SDS-PAGE, x * 74000, recombinant wild-type enzyme, intracellular precursor enzyme form, SDS-PAGE, x * 69000, recombinant wild-type enzyme, intracellular processed enzyme form 1, SDS-PAGE, x * 65000, recombinant wild-type enzyme, intracellular processed enzyme form 2, SDS-PAGE, x * 49000, recombinant wild-type enzyme, intracellular processed enzyme form 3, SDS-PAGE | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
alpha-L-iduronidase | - |
Homo sapiens |
IDUA | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
32 | - |
assay at | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
4.2 | - |
assay at | Homo sapiens |