Homo sapiens Protein: XDH
Summary
InnateDB Protein IDBP-42780.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol XDH
Protein Name xanthine dehydrogenase
Synonyms XO; XOR;
Species Homo sapiens
Ensembl Protein ENSP00000368727
InnateDB Gene IDBG-42778 (XDH)
Protein Structure
UniProt Annotation
Function Key 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:0000269PubMed:17301077}.
Subcellular Localization Cytoplasm {ECO:0000250}. Peroxisome {ECO:0000250}. Secreted.
Disease Associations Xanthinuria 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:0000269PubMed:10844591, ECO:0000269PubMed:11379872, ECO:0000269PubMed:14551354, ECO:0000269PubMed:9153281}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Detected in milk (at protein level). {ECO:0000269Ref.11}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 4 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004854 xanthine dehydrogenase activity
GO:0004855 xanthine oxidase activity
GO:0005506 iron ion binding
GO:0005515 protein binding
GO:0008762 UDP-N-acetylmuramate dehydrogenase activity
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
GO:0016614 oxidoreductase activity, acting on CH-OH group of donors
GO:0042803 protein homodimerization activity
GO:0043546 molybdopterin cofactor binding
GO:0046872 metal ion binding
GO:0050660 flavin adenine dinucleotide binding
GO:0051536 iron-sulfur cluster binding
GO:0051537 2 iron, 2 sulfur cluster binding
Biological Process
GO:0001933 negative regulation of protein phosphorylation
GO:0001937 negative regulation of endothelial cell proliferation
GO:0006144 purine nucleobase metabolic process
GO:0006195 purine nucleotide catabolic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0007595 lactation
GO:0009115 xanthine catabolic process
GO:0010629 negative regulation of gene expression
GO:0030856 regulation of epithelial cell differentiation
GO:0044281 small molecule metabolic process
GO:0045087 innate immune response (InnateDB)
GO:0045602 negative regulation of endothelial cell differentiation
GO:0051898 negative regulation of protein kinase B signaling
GO:0055086 nucleobase-containing small molecule metabolic process
GO:0055114 oxidation-reduction process
GO:1900745 positive regulation of p38MAPK cascade
GO:1900747 negative regulation of vascular endothelial growth factor signaling pathway
GO:2000379 positive regulation of reactive oxygen species metabolic process
GO:2001213 negative regulation of vasculogenesis
Cellular Component
GO:0005615 extracellular space
GO:0005777 peroxisome
GO:0005829 cytosol
Protein Structure and Domains
PDB ID
InterPro IPR000674 Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead
IPR001041 2Fe-2S ferredoxin-type domain
IPR002346 Molybdopterin dehydrogenase, FAD-binding
IPR002888 [2Fe-2S]-binding
IPR005107 CO dehydrogenase flavoprotein, C-terminal
IPR008274 Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding
IPR014307 Xanthine dehydrogenase, small subunit
IPR016166 FAD-binding, type 2
IPR016208 Aldehyde oxidase/xanthine dehydrogenase
PFAM PF01315
PF00111
PF00941
PF01799
PF03450
PF02738
PRINTS
PIRSF PIRSF000127
SMART SM01008
SM01092
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P47989
PhosphoSite PhosphoSite-P47989
TrEMBL Q585T6
UniProt Splice Variant
Entrez Gene 7498
UniGene Hs.250
RefSeq NP_000370
HUGO HGNC:12805
OMIM 607633
CCDS CCDS1775
HPRD 06363
IMGT
EMBL AC010743 D11456 DQ089481 U06117 U39487
GenPept AAA75287 AAB08399 AAX76512 AAY68219 BAA02013