Xanthine dehydrogenase/oxidase

UniProt P47989 Organism Homo sapiens Gene XDH, XDHA EC 1.17.1.4, 1.17.3.2

Also known as: XDH, XDHA

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).

Classification

Family (Pfam): PF01315 Ald_Xan_dh_C, PF03450 CO_deh_flav_C, PF00941 FAD_binding_5, PF00111 Fer2, PF01799 Fer2_2, PF02738 MoCoBD_1, PF20256 MoCoBD_2
InterPro: 2Fe-2S-bd, 2Fe-2S-bd_dom_sf, 2Fe-2S_ferredoxin-like_sf, 2Fe-2S_ferredoxin-type, 2Fe2S_fd_BS, Ald_Oxase/Xan_DH_a/b, Ald_Oxase/Xan_DH_a/b_sf, Ald_Oxase/xanthine_DH-like, AldOxase/xan_DH_MoCoBD1, AldOxase/xan_DH_MoCoBD2, AldOxase/xan_DH_Mopterin-bd_sf, Beta-grasp_dom_sf, CO_DH_flav_C, CO_DH_flav_C_dom_sf, FAD-bd_PCMH, FAD-bd_PCMH-like_sf, FAD-bd_PCMH_sub1, FAD-bd_PCMH_sub2, Mopterin_DH_FAD-bd, OxRdtase_Mopterin_BS, Xanthine_DH_ssu
Functional cluster: Tubulins & Mitochondrial Metabolic Enzymes

Experimental structures · PDB · 2

2CKJ X-ray 3.59A
2E1Q X-ray 2.60A

A predicted model is available from AlphaFold.

Gene Ontology · 28

Disease associations

xanthinuria type I MONDO:0010209

Drugs targeting this protein · 6

TOPIROXOSTAT inhibitor
BENDAZAC inhibitor
FEBUXOSTAT inhibitor
ALLOPURINOL SODIUM inhibitor
ALLOPURINOL inhibitor
OXYPURINOL inhibitor

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Molybdenum cofactor sulfurase 1 shared papers
Butyrophilin subfamily 1 member A1 1 shared papers
Leucine-rich alpha-2-glycoprotein 1 shared papers
Lactadherin 1 shared papers
Macrophage mannose receptor 1 1 shared papers
Mucin-4 1 shared papers
Alpha-lactalbumin 1 shared papers
Chordin-like protein 2 1 shared papers
CD59 glycoprotein 1 shared papers
Protein Wnt-2b 1 shared papers
Kallikrein-12 1 shared papers
Lactoperoxidase 1 shared papers

Literature · 13 cited papers

Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects. Biomedicines · 2021
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J. Proteomics · 2014
Identification of N-linked glycoproteins in human milk by hydrophilic interaction liquid chromatography and mass spectrometry. Proteomics · 2008
Human xanthine oxidase changes its substrate specificity to aldehyde oxidase type upon mutation of amino acid residues in the active site: roles of active site residues in binding and activation of purine substrate. J. Biochem. · 2007
The consensus coding sequences of human breast and colorectal cancers. Science · 2006
Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. Nephrol. Dial. Transplant. · 2003
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria. Hum. Genet. · 2001
XDH gene mutation is the underlying cause of classical xanthinuria: a second report. Kidney Int. · 2000
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. J. Clin. Invest. · 1997
Cloning and expression in vitro of human xanthine dehydrogenase/oxidase. Biochem. J. · 1996
Cloning of the cDNA encoding human xanthine dehydrogenase (oxidase): structural analysis of the protein and chromosomal location of the gene. Gene · 1993
Molecular cloning, tissue expression of human xanthine dehydrogenase. Biochem. Biophys. Res. Commun. · 1994
… and 1 more in the literature graph

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