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Aliases for XDH Gene

Aliases for XDH Gene

  • Xanthine Dehydrogenase 2 3
  • Xanthine Dehydrogenase/Oxidase 3
  • Xanthine Oxidoreductase 3
  • Xanthene Dehydrogenase 2
  • EC 1.17.1.4 63
  • EC 1.7.2.2 63
  • XDHA 4
  • XOR 3
  • XO 3

External Ids for XDH Gene

Previous GeneCards Identifiers for XDH Gene

  • GC02M031482
  • GC02M031665
  • GC02M031533
  • GC02M031470
  • GC02M031410

Summaries for XDH Gene

Entrez Gene Summary for XDH Gene

  • 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]

GeneCards Summary for XDH Gene

XDH (Xanthine Dehydrogenase) is a Protein Coding gene. Diseases associated with XDH include xanthinuria, type i and hereditary xanthinuria. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and iron ion binding. An important paralog of this gene is AOX1.

UniProtKB/Swiss-Prot for XDH Gene

  • 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).

Tocris Summary for XDH Gene

Gene Wiki entry for XDH Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XDH Gene

Genomics for XDH Gene

Regulatory Elements for XDH Gene

Genomic Location for XDH Gene

Start:
31,334,321 bp from pter
End:
31,414,745 bp from pter
Size:
80,425 bases
Orientation:
Minus strand

Genomic View for XDH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for XDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XDH Gene

Proteins for XDH Gene

  • Protein details for XDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P47989-XDH_HUMAN
    Recommended name:
    Xanthine dehydrogenase/oxidase
    Protein Accession:
    P47989
    Secondary Accessions:
    • Q16681
    • Q16712
    • Q4PJ16

    Protein attributes for XDH Gene

    Size:
    1333 amino acids
    Molecular mass:
    146424 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Cofactor:
    Name=Mo-molybdopterin; Xref=ChEBI:CHEBI:71302; Note=Binds 1 Mo-molybdopterin (Mo-MPT) cofactor per subunit.;
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601; Note=Binds 2 [2Fe-2S] clusters.;
    Quaternary structure:
    • Homodimer. Interacts with BTN1A1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for XDH Gene

neXtProt entry for XDH Gene

Proteomics data for XDH Gene at MOPED

Selected DME Specific Peptides for XDH Gene

Post-translational modifications for XDH Gene

  • Contains sulfhydryl groups that are easily oxidized (in vitro); this alters the enzyme from the dehydrogenase form (D) to the oxidase form (O).
  • Subject to partial proteolysis; this alters the enzyme from the dehydrogenase form (D) to the oxidase form (O).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for XDH Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for XDH Gene

Suggested Antigen Peptide Sequences for XDH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P47989

UniProtKB/Swiss-Prot:

XDH_HUMAN :
  • P47989
Domain:
  • Contains 1 2Fe-2S ferredoxin-type domain.
  • Contains 1 FAD-binding PCMH-type domain.
Family:
  • Belongs to the xanthine dehydrogenase family.
genes like me logo Genes that share domains with XDH: view

No data available for Gene Families for XDH Gene

Function for XDH Gene

Molecular function for XDH Gene

GENATLAS Biochemistry: xanthine oxidase (dehydrogenase),catalyzing the oxidation of hypoxanthine to purine and purine to uric acid,adenine nucleotide catalytic pathway
UniProtKB/Swiss-Prot CatalyticActivity: Hypoxanthine + NAD(+) + H(2)O = xanthine + NADH
UniProtKB/Swiss-Prot CatalyticActivity: Xanthine + H(2)O + O(2) = urate + H(2)O(2)
UniProtKB/Swiss-Prot EnzymeRegulation: Can be converted from the dehydrogenase form (D) to the oxidase form (O) irreversibly by proteolysis or reversibly through the oxidation of sulfhydryl groups.
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for XDH Gene

Gene Ontology (GO) - Molecular Function for XDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004854 xanthine dehydrogenase activity IDA 8670112
GO:0004855 xanthine oxidase activity IDA 17301077
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with XDH: view
genes like me logo Genes that share phenotypes with XDH: view

Animal Models for XDH Gene

MGI Knock Outs for XDH:

miRNA for XDH Gene

miRTarBase miRNAs that target XDH

No data available for Transcription Factor Targeting and HOMER Transcription for XDH Gene

Localization for XDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for XDH Gene

Cytoplasm. Peroxisome. Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for XDH Gene COMPARTMENTS Subcellular localization image for XDH gene
Compartment Confidence
extracellular 5
cytosol 4
mitochondrion 2
nucleus 2
peroxisome 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for XDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 16502470
GO:0005777 peroxisome IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with XDH: view

Pathways for XDH Gene

genes like me logo Genes that share pathways with XDH: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Cellular Stress Responses in human,mouse,rat
    • Drug Metabolism in human,mouse,rat
    • Drug Metabolism: Phase I Enzymes in human,mouse,rat
    • Drug Metabolism: Phase II Enzymes in human,mouse,rat
    • Endothelial Cell Biology in human,mouse,rat

Gene Ontology (GO) - Biological Process for XDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IDA 18386220
GO:0001937 negative regulation of endothelial cell proliferation IDA 18386220
GO:0006144 purine nucleobase metabolic process TAS --
GO:0006195 purine nucleotide catabolic process TAS --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 18386220
genes like me logo Genes that share ontologies with XDH: view

Compounds for XDH Gene

(4) Tocris Compounds for XDH Gene

Compound Action Cas Number
680C91 Potent and selective inhibitor of tryptophan 2,3-dioxygenase [163239-22-3]
Carbazeran citrate Aldehyde oxidase substrate; PDE inhibitor [153473-94-0]
Febuxostat Xanthine oxidase inhibitor [144060-53-7]
MDL 72527 Polyamine oxidase (PAO) inhibitor [93565-01-6]

(24) HMDB Compounds for XDH Gene

Compound Synonyms Cas Number PubMed IDs
1,7-Dimethyluric acid
Not Available
1-Methyluric acid
  • 1-Methylurate
708-79-2
1-Methylxanthine
Not Available
3,7-Dimethyluric acid
  • 3,7-Dimethyl-2,6,8-trihydroxypurine
13087-49-5
5-Hydroxypyrazinamide
  • 2-Carboxamido-5-hydroxypyrazine
13924-96-4

(24) Drugbank Compounds for XDH Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
4-[5-Pyridin-4-Yl-1h-[1,2,4]Triazol-3-Yl]-Pyridine-2-Carbonitrile
target
Aldesleukin
  • IL-2
85898-30-2 enzyme inducer
Allopurinol
  • Allopurinol Sodium
315-30-0 target inhibitor
Allopurinol
  • Allopurinol Sodium
315-30-0 enzyme substrate
Azathioprine
  • Azathioprin
446-86-6 enzyme substrate

(155) Novoseek inferred chemical compound relationships for XDH Gene

Compound -log(P) Hits PubMed IDs
xanthine 99.2 551
hypoxanthine 94 156
allopurinol 94 142
superoxide 91.6 195
oxypurinol 90.8 74

(2) PharmGKB related drug/compound annotations for XDH Gene

Drug/compound Annotation
azathioprine
didanosine CA
genes like me logo Genes that share compounds with XDH: view

Transcripts for XDH Gene

mRNA/cDNA for XDH Gene

Unigene Clusters for XDH Gene

Xanthine dehydrogenase:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for XDH

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for XDH

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for XDH Gene

No ASD Table

Relevant External Links for XDH Gene

GeneLoc Exon Structure for
XDH
ECgene alternative splicing isoforms for
XDH

Expression for XDH Gene

mRNA expression in normal human tissues for XDH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for XDH Gene

This gene is overexpressed in Liver (20.8), Small Intestine - Terminal Ileum (7.1), Esophagus - Mucosa (6.6), and Colon - Transverse (6.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for XDH Gene

SOURCE GeneReport for Unigene cluster for XDH Gene Hs.250

mRNA Expression by UniProt/SwissProt for XDH Gene

P47989-XDH_HUMAN
Tissue specificity: Detected in milk (at protein level).
genes like me logo Genes that share expressions with XDH: view

In Situ Assay Products

Orthologs for XDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for XDH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia XDH 35
  • 99.42 (n)
  • 99.47 (a)
XDH 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia XDH 35
  • 88.64 (n)
  • 89.64 (a)
XDH 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XDH 35
  • 88.79 (n)
  • 90.62 (a)
XDH 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xdh 35
  • 85.52 (n)
  • 89.41 (a)
Xdh 16
Xdh 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia XDH 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Xdh 35
  • 86.23 (n)
  • 90.46 (a)
chicken
(Gallus gallus)
Aves XDH 35
  • 71.62 (n)
  • 73.55 (a)
XDH 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XDH 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497499 35
  • 67.03 (n)
  • 69.35 (a)
zebrafish
(Danio rerio)
Actinopterygii xdh 35
  • 66.77 (n)
  • 69.03 (a)
xdh 36
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007918 35
  • 33.08 (n)
  • 17.25 (a)
fruit fly
(Drosophila melanogaster)
Insecta ry 35
  • 57.05 (n)
  • 52.84 (a)
ry 36
  • 52 (a)
OneToOne
CG18516 37
  • 29 (a)
CG6045 37
  • 29 (a)
CG18522 37
  • 29 (a)
CG18519 37
  • 31 (a)
ry 37
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea F55B11.1 35
  • 51.63 (n)
  • 48.78 (a)
F55B11.1 36
  • 46 (a)
OneToOne
B0222.9 37
  • 33 (a)
F15E6.6 37
  • 36 (a)
F55B11.1 37
  • 47 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6666 35
thale cress
(Arabidopsis thaliana)
eudicotyledons XDH1 35
  • 52.78 (n)
  • 49.31 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1130 35
corn
(Zea mays)
Liliopsida Zm.3935 35
rice
(Oryza sativa)
Liliopsida Os.10786 35
Os03g0429800 35
  • 53.05 (n)
  • 49.34 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.27265 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03350 35
  • 54.75 (n)
  • 50.89 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13332 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
CSA.924 36
  • 49 (a)
OneToMany
Species with no ortholog for XDH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for XDH Gene

ENSEMBL:
Gene Tree for XDH (if available)
TreeFam:
Gene Tree for XDH (if available)

Paralogs for XDH Gene

Paralogs for XDH Gene

Selected SIMAP similar genes for XDH Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with XDH: view

Variants for XDH Gene

Sequence variations from dbSNP and Humsavar for XDH Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs169596 -- 31,343,258(-) GCTTT(C/T)TAGGT intron-variant
rs185925 -- 31,387,127(-) CAGTT(C/T)GATTT intron-variant
rs206797 -- 31,403,228(-) GCTCT(G/T)CCCAC intron-variant
rs206798 -- 31,403,770(-) AGATG(A/G)TCTTT intron-variant
rs206799 -- 31,404,240(-) GAAAA(C/G)CTTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for XDH Gene

Variant ID Type Subtype PubMed ID
esv2544812 CNV Insertion 19546169
esv271536 CNV Insertion 20981092
esv273424 CNV Insertion 20981092
esv2719874 CNV Deletion 23290073
nsv456030 CNV Gain 19166990

Relevant External Links for XDH Gene

HapMap Linkage Disequilibrium report
XDH
Human Gene Mutation Database (HGMD)
XDH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XDH Gene

Disorders for XDH Gene

(1) OMIM Diseases for XDH Gene (607633)

UniProtKB/Swiss-Prot

XDH_HUMAN
  • 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: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.

(3) University of Copenhagen DISEASES for XDH Gene

(94) Novoseek inferred disease relationships for XDH Gene

Disease -log(P) Hits PubMed IDs
xanthinuria, type i 90.4 23
xanthinuria 89.2 27
molybdenum cofactor deficiency 84.8 16
hyperuricemia 79.2 29
gout 75.6 37

Genatlas disease for XDH Gene

xanthinuria type I

Relevant External Links for XDH

Genetic Association Database (GAD)
XDH
Human Genome Epidemiology (HuGE) Navigator
XDH
genes like me logo Genes that share disorders with XDH: view

Publications for XDH Gene

  1. Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. (PMID: 9153281) Ichida K. … Sakai O. (J. Clin. Invest. 1997) 3 4 23
  2. 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. (PMID: 17301077) Yamaguchi Y. … Nishino T. (J. Biochem. 2007) 3 4 23
  3. Associations of hypertension and its complications with variations in the xanthine dehydrogenase gene. (PMID: 18712049) Yang J. … Kawano Y. (Hypertens. Res. 2008) 3 23 48
  4. Cloning of the cDNA encoding human xanthine dehydrogenase (oxidase): structural analysis of the protein and chromosomal location of the gene. (PMID: 8224915) Ichida K. … Nishino T. (Gene 1993) 2 3 4
  5. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PMID: 19898482) Ross C.J. … Hayden M.R. (Nat. Genet. 2009) 3 48

Products for XDH Gene

  • Addgene plasmids for XDH

Sources for XDH Gene

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