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XDH xanthine dehydrogenase [ Homo sapiens (human) ]

Gene ID: 7498, updated on 22-May-2022

Summary

Official Symbol
XDHprovided by HGNC
Official Full Name
xanthine dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:12805
See related
Ensembl:ENSG00000158125 MIM:607633; AllianceGenome:HGNC:12805
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
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Genomic context

See XDH in Genome Data Viewer
Location:
2p23.1
Exon count:
37
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (31334321..31414742, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (31378697..31459436, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (31557187..31637608, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907751 Neighboring gene ribosomal protein L21 pseudogene 70 Neighboring gene steroid 5 alpha-reductase 2 Neighboring gene uncharacterized LOC107985862 Neighboring gene Sharpr-MPRA regulatory region 3493

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hereditary xanthinuria type 1
MedGen: C0268118 OMIM: 278300 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2 iron, 2 sulfur cluster binding IDA
Inferred from Direct Assay
more info
PubMed 
enables FAD binding IEA
Inferred from Electronic Annotation
more info
 
enables flavin adenine dinucleotide binding IDA
Inferred from Direct Assay
more info
PubMed 
enables hypoxanthine dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables hypoxanthine oxidase activity IEA
Inferred from Electronic Annotation
more info
 
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
 
enables molybdopterin cofactor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables xanthine dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables xanthine dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables xanthine oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in AMP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in GMP catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in IMP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in adenosine catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in allantoin metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in dAMP catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in dGMP catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in deoxyadenosine catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in deoxyguanosine catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in deoxyinosine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in guanine catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in hypoxanthine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in inosine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in iron-sulfur cluster assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in lactation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of endothelial cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of endothelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of protein kinase B signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of vascular endothelial growth factor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of vasculogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of p38MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of reactive oxygen species metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in xanthine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in xanthine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in peroxisome IEA
Inferred from Electronic Annotation
more info
 
located_in 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)

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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
    5004..85425
    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, ENST00000379416.4
    Conserved Domains (1) summary
    PLN02906
    Location:231319
    PLN02906; xanthine dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    31334321..31414742 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533095.3XP_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_011533096.3XP_011531398.1  xanthine dehydrogenase/oxidase isoform X2

    Conserved Domains (1) summary
    PLN02906
    Location:231049
    PLN02906; xanthine dehydrogenase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    31378697..31459436 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)