XDH Gene Summary [Human]
Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]
Details
| Type | Protein Coding |
| Official Symbol | XDH |
| Official Name | xanthine dehydrogenase [Source:HGNC Symbol;Acc:HGNC:12805] |
| Ensembl ID | ENSG00000158125 |
| Bio databases IDs | |
| Aliases | xanthine dehydrogenase |
| Synonyms | XAN1, Xanthine Dehydrogenase, Xanthine Oxidase, XO, XOR, Xox-1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human XDH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- flavin adenine dinucleotide binding
- CH2 group:oxygen oxidoreductase
- xanthine dehydrogenase, molybdopterin binding subunit
- xanthine dehydrogenase
- oxidoreductase
- aldehyde oxidase
- enzyme
- protein binding
- xanthine dehydrogenase E subunit
- Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain
- identical protein binding
- CH2 group:NAD or NADP oxidoreductase
- 4-hydroxybenzoyl-CoA reductase, gamma subunit
- nitrite reductase
- FAD binding domain in molybdopterin dehydrogenase
- binding protein
- xanthine oxidase
- [2Fe-2S] binding domain
- protein homodimerization
- Molybdopterin cofactor-binding domain
- CO dehydrogenase flavoprotein C-terminal domain
- xanthine dehydrogenase, small subunit
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- HIV infection
- obesity
- cancer
- schizophrenia
- schizoaffective disorder
- interstitial nephritis
- non-Hodgkin lymphoma
- urolithiasis
- solid tumor
- xanthinuria type II
role in cell
- cell death
- cell viability
- apoptosis
- production in
- transmembrane potential
- expression in
- proliferation
- synthesis in
- phosphorylation in
- survival
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- Extracellular Space
- Plasma Membrane
- sarcoplasmic reticulum
- cytosol
- apical cell surfaces
- peroxisomes
- exosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human XDH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular amide catabolic process
- deoxyguanosine catabolic process
- xanthine catabolic process
- lactation
- hypoxanthine catabolic process
- dAMP catabolic process
- GMP catabolic process
- deoxyinosine catabolic process
- IMP catabolic process
- guanine catabolic process
- inosine catabolic process
- allantoin metabolic process
- negative regulation of endothelial cell differentiation
- negative regulation of vascular endothelial growth factor signaling pathway
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- positive regulation of reactive oxygen species metabolic process
- AMP catabolic process
- deoxyadenosine catabolic process
- adenosine catabolic process
- positive regulation of p38MAPK cascade
- negative regulation of gene expression
- dGMP catabolic process
- negative regulation of protein phosphorylation
- negative regulation of endothelial cell proliferation
- negative regulation of protein kinase B signaling cascade
- iron-sulfur cluster assembly
- negative regulation of vasculogenesis
Cellular Component
Where in the cell the gene product is active
- peroxisome
- extracellular space
- sarcoplasmic reticulum
- cytosol
Molecular Function
What the gene product does at the molecular level
- FAD binding
- xanthine dehydrogenase activity
- xanthine oxidase activity
- protein binding
- protein homodimerization activity
- flavin adenine dinucleotide binding
- iron ion binding
- hypoxanthine dehydrogenase activity
- hypoxanthine oxidase activity
- 2 iron, 2 sulfur cluster binding
- molybdopterin cofactor binding