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Literature summary for 3.2.1.76 extracted from

  • Yogalingam, G.; Guo, X.H.; Muller, V.J.; Brooks, D.A.; Clements, P.R.; Kakkis, E.D.; Hopwood, J.J.
    Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy (2004), Hum. Mutat., 24, 199-207.
    View publication on PubMed

Application

Application Comment Organism
medicine the enzyme is a target for enzyme replacement therapy of mucopolysaccharidosis type I patients Homo sapiens

Cloned(Commentary)

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

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 [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 [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/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens P35475
-
-

Purification (Commentary)

Purification (Comment) Organism
native and recombinant wild-type and mutant enzymes partially by immunoprecipitation Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
skin fibroblast from healthy humans and mucopolysaccharidosis type I patients Homo sapiens
-

Specific Activity [micromol/min/mg]

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 and Products (Substrate)

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

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

Synonyms Comment Organism
alpha-L-iduronidase
-
Homo sapiens
IDUA
-
Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
32
-
assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
4.2
-
assay at Homo sapiens