Format

Send to:

Choose Destination

XDH xanthine dehydrogenase [ Homo sapiens (human) ]

Gene ID: 7498, updated on 27-Dec-2018

Summary

Official Symbol
XDHprovided by HGNC
Official Full Name
xanthine dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:12805
See related
Ensembl:ENSG00000158125 MIM:607633
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
XO; XOR; XAN1
Summary
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]
Expression
Biased expression in small intestine (RPKM 24.3), duodenum (RPKM 21.4) and 6 other tissues See more
Orthologs

Genomic context

See XDH in Genome Data Viewer
Location:
2p23.1
Exon count:
37
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (31334320..31414777, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (31557188..31637611, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene EH domain containing 3 Neighboring gene ribosomal protein L21 pseudogene 70 Neighboring gene steroid 5 alpha-reductase 2 Neighboring gene uncharacterized LOC107985862 Neighboring gene uncharacterized LOC107985863

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Deficiency of xanthine oxidase
MedGen: C0268118 OMIM: 278300 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2 iron, 2 sulfur cluster binding IDA
Inferred from Direct Assay
more info
PubMed 
FAD binding IEA
Inferred from Electronic Annotation
more info
 
electron transfer activity IEA
Inferred from Electronic Annotation
more info
 
flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flavin adenine dinucleotide binding IDA
Inferred from Direct Assay
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
molybdopterin cofactor binding IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
xanthine dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
xanthine dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
xanthine oxidase activity EXP
Inferred from Experiment
more info
PubMed 
xanthine oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome IEA
Inferred from Electronic Annotation
more info
 
sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
xanthine dehydrogenase/oxidase
Names
xanthine oxidoreductase
NP_000370.2
XP_011531397.1
XP_011531398.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008871.2 RefSeqGene

    Range
    5001..85424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000379.4NP_000370.2  xanthine dehydrogenase/oxidase

    See identical proteins and their annotated locations for NP_000370.2

    Status: REVIEWED

    Source sequence(s)
    AL121654, AL121657, CV574002, D11456
    Consensus CDS
    CCDS1775.1
    UniProtKB/Swiss-Prot
    P47989
    Related
    ENSP00000368727.3, ENST00000379416.3
    Conserved Domains (6) summary
    PLN02906
    Location:231319
    PLN02906; xanthine dehydrogenase
    pfam00941
    Location:232412
    FAD_binding_5; FAD binding domain in molybdopterin dehydrogenase
    pfam01315
    Location:588694
    Ald_Xan_dh_C; Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain
    pfam01799
    Location:87158
    Fer2_2; [2Fe-2S] binding domain
    pfam02738
    Location:7141237
    Ald_Xan_dh_C2; Molybdopterin-binding domain of aldehyde dehydrogenase
    pfam03450
    Location:419523
    CO_deh_flav_C; CO dehydrogenase flavoprotein C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    31334320..31414777 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533095.2XP_011531397.1  xanthine dehydrogenase/oxidase isoform X1

    Conserved Domains (6) summary
    PLN02906
    Location:231318
    PLN02906; xanthine dehydrogenase
    pfam00941
    Location:232412
    FAD_binding_5; FAD binding domain in molybdopterin dehydrogenase
    pfam01315
    Location:587693
    Ald_Xan_dh_C; Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain
    pfam01799
    Location:87158
    Fer2_2; [2Fe-2S] binding domain
    pfam02738
    Location:7131236
    Ald_Xan_dh_C2; Molybdopterin-binding domain of aldehyde dehydrogenase
    pfam03450
    Location:419523
    CO_deh_flav_C; CO dehydrogenase flavoprotein C-terminal domain
  2. XM_011533096.2XP_011531398.1  xanthine dehydrogenase/oxidase isoform X2

    Conserved Domains (6) summary
    TIGR02963
    Location:6523
    xanthine_xdhA; xanthine dehydrogenase, small subunit
    pfam00941
    Location:232412
    FAD_binding_5; FAD binding domain in molybdopterin dehydrogenase
    pfam01315
    Location:588694
    Ald_Xan_dh_C; Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain
    pfam01799
    Location:87158
    Fer2_2; [2Fe-2S] binding domain
    pfam02738
    Location:7141049
    Ald_Xan_dh_C2; Molybdopterin-binding domain of aldehyde dehydrogenase
    pfam03450
    Location:419523
    CO_deh_flav_C; CO dehydrogenase flavoprotein C-terminal domain
Support Center