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Literature summary for 3.2.1.22 extracted from

  • Kase, R.; Bierfreund, U.; Klein, A.; Kolter, T.; Utsumi, K.; Itoh, K.; Sandhoff, K.; Sakuraba, H.
    Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of fabry disease (2000), Biochim. Biophys. Acta, 1501, 227-235.
    View publication on PubMed
Search for more literature for 3.2.1.22

Cloned(Commentary)

Cloned (Comment) Organism
mutant enzymes Q279E and R301Q are expressed in Sf9 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
Q279E mutation does not significantly affect the enzymatic activity, but mutant protein level is decreased in the ER of the cell. No difference in the degradative activity between the mutant and the wild-type enzyme with the natural substrate globotriaosylceramide.Mutant enzyme is almost completely inactivated after 30 min at 50°C, while the wild-type enzyme retains 43% of its original activity even after 60 min.The KM-value for 4-methylumbelliferyl alpha-D-galactoside is 1.3fold higher than the wild-type value Homo sapiens
R301Q mutation does not significantly affect the enzymatic activity, but mutant protein level is decreased in the ER of the cell. No difference in the degradative activity between the mutant and the wild-type enzyme with the natural substrate globotriaosylceramide. Mutant enzyme is almost completely inactivated after 30 min at 50°C, while the wild-type enzyme retains 43% of its original activity even after 60 min. The KM-value for 4-methylumbelliferyl alpha-D-galactoside is 1.3fold higher than the wild-type value Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
2.2
-
 4-methylumbelliferyl alpha-D-galactoside wild-type enzyme Homo sapiens
2.8
-
 4-methylumbelliferyl alpha-D-galactoside mutant enzyme Q279E and R301Q Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
endoplasmic reticulum
-
 Homo sapiens 5783
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
globotriaosylceramide + H2O Homo sapiens
-
 ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-methylumbelliferyl alpha-D-galactoside + H2O
-
 Homo sapiens 4-methylumbelliferone + D-galactose
-
 ?
globotriaosylceramide + H2O
-
 Homo sapiens ?
-
 ?

Temperature Stability [°C]

Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Comment Organism
50
-
 mutant enzymes Q279E and R301Q are almost completely inactivated after 30 min at 50°C, while the wild-type enzyme retains 43% of its original activity even after 60 min Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
4.6
-
 wild-type and mutant enzymes Q279E and R301Q Homo sapiens