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Literature summary for 1.17.3.2 extracted from

  • Kudo, M.; Moteki, T.; Sasaki, T.; Konno, Y.; Ujiie, S.; Onose, A.; Mizugaki, M.; Ishikawa, M.; Hiratsuka, M.
    Functional characterization of human xanthine oxidase allelic variants (2008), Pharmacogenet. Genomics, 18, 243-251.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene XO, DNA and amino acid sequence determination and analysis of wild-type and mutant enzymes, genotyping, expression in COS-7 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
C1318Y naturally occuring single nucleotide polymorphism, the mutant variant shows reduced activity compared to the wild-type enzyme Homo sapiens
D1109T naturally occuring nonsynonymous single nucleotide polymorphism Homo sapiens
G172R naturally occuring nonsynonymous single nucleotide polymorphism Homo sapiens
H1221R naturally occuring nonsynonymous single nucleotide polymorphism, the mutant variant shows about twofold increased activity compared to the wild-type enzyme Homo sapiens
I703V naturally occuring single nucleotide polymorphism, the mutant variant shows abput twofold increased activity compared to the wild-type enzyme Homo sapiens
additional information enzyme mutantions can lead to xanthinuria Homo sapiens
N909K naturally occuring single nucleotide polymorphism, the mutant variant shows reduced activity compared to the wild-type enzyme Homo sapiens
P1150R naturally occuring single nucleotide polymorphism, the mutant variant shows reduced activity compared to the wild-type enzyme Homo sapiens
P555S naturally occuring single nucleotide polymorphism, the mutant variant shows reduced activity compared to the wild-type enzyme Homo sapiens
R149C naturally occuring single nucleotide polymorphism, inactive mutant Homo sapiens
R607Q naturally occuring single nucleotide polymorphism, the mutant variant shows reduced activity compared to the wild-type enzyme Homo sapiens
T109K naturally occuring single nucleotide polymorphism, inactive mutant Homo sapiens
T623I naturally occuring single nucleotide polymorphism, the mutant variant shows reduced activity compared to the wild-type enzyme Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
additional information
-
additional information detailed kinetics of wild-type in comparison to mutant enzymes, overview Homo sapiens
0.0017
-
xanthine pH 8.1, 37°C, average value, wild-type enzyme 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 catalyzes the oxidation of endogenous and exogenous purines and pyrimidines ?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
gene XO
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
activities of wild-type in comparison to mutant enzymes, overview Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information the enzyme catalyzes the oxidation of endogenous and exogenous purines and pyrimidines Homo sapiens ?
-
?
additional information single nucleotide polymorphisms alter the substrate specificity of the enzyme, overview Homo sapiens ?
-
?
xanthine + H2O + O2
-
Homo sapiens urate + H2O2
-
?

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
8.1
-
assay at Homo sapiens