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MGP003329

UniProt Annotations

Entry Information
Gene Namexanthine dehydrogenase
Protein EntryXDH_HUMAN
UniProt IDP47989
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityHypoxanthine + NAD(+) + H(2)O = xanthine + NADH.
Catalytic ActivityXanthine + H(2)O + O(2) = urate + H(2)O(2).
CofactorName=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601; Evidence={ECO:0000269|PubMed:17301077}; Note=Binds 2 [2Fe-2S] clusters. {ECO:0000269|PubMed:17301077};
CofactorName=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269|PubMed:17301077};
CofactorName=Mo-molybdopterin; Xref=ChEBI:CHEBI:71302; Evidence={ECO:0000269|PubMed:17301077}; Note=Binds 1 Mo-molybdopterin (Mo-MPT) cofactor per subunit. {ECO:0000269|PubMed:17301077};
DiseaseXanthinuria 1 (XU1) [MIM:278300]: A disorder characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. Xanthinuria 1 is due to isolated xanthine dehydrogenase deficiency. Patients can metabolize allopurinol. {ECO:0000269|PubMed:10844591, ECO:0000269|PubMed:11379872, ECO:0000269|PubMed:14551354, ECO:0000269|PubMed:9153281}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationCan be converted from the dehydrogenase form (D) to the oxidase form (O) irreversibly by proteolysis or reversibly through the oxidation of sulfhydryl groups. {ECO:0000250}.
FunctionKey enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase activity towards aldehydes (in vitro). {ECO:0000269|PubMed:17301077}.
PtmContains sulfhydryl groups that are easily oxidized (in vitro); this alters the enzyme from the dehydrogenase form (D) to the oxidase form (O). {ECO:0000250}.
PtmSubject to partial proteolysis; this alters the enzyme from the dehydrogenase form (D) to the oxidase form (O). {ECO:0000250}.
SimilarityBelongs to the xanthine dehydrogenase family. {ECO:0000305}.
SimilarityContains 1 2Fe-2S ferredoxin-type domain. {ECO:0000255|PROSITE-ProRule:PRU00465}.
SimilarityContains 1 FAD-binding PCMH-type domain. {ECO:0000255|PROSITE-ProRule:PRU00718}.
Subcellular LocationCytoplasm {ECO:0000250}. Peroxisome {ECO:0000250}. Secreted.
SubunitHomodimer. Interacts with BTN1A1 (By similarity). {ECO:0000250}.
Tissue SpecificityDetected in milk (at protein level). {ECO:0000269|Ref.11}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/xdh/";
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