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    XDH xanthine dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 7498, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See XDH in Genome Data Viewer
    Location:
    2p23.1
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (31334321..31414742, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (31378697..31459436, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 11330 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:31605893-31606434 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:31623181-31623381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15553 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:31652502-31653701 Neighboring gene NANOG hESC enhancer GRCh37_chr2:31712186-31712687 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:31718948-31719564 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:31719565-31720180 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

    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 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
     
    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 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 amide catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 phosphatidylinositol 3-kinase/protein kinase B signal transduction 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 cysteine-type endopeptidase activity 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
     
    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
     
    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
    XP_054199746.1
    XP_054199747.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q16681, Q16712, Q4PJ16
      UniProtKB/TrEMBL
      A0AA96C912
      Related
      ENSP00000368727.3, ENST00000379416.4
      Conserved Domains (1) summary
      PLN02906
      Location:231319
      PLN02906; xanthine dehydrogenase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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

      UniProtKB/TrEMBL
      A0AA96C912
      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)

    mRNA and Protein(s)

    1. XM_054343771.1XP_054199746.1  xanthine dehydrogenase/oxidase isoform X1

      UniProtKB/TrEMBL
      A0AA96C912
    2. XM_054343772.1XP_054199747.1  xanthine dehydrogenase/oxidase isoform X2