Xdh xanthine dehydrogenase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Xdhprovided by MGI
Official Full Name: xanthine dehydrogenaseprovided by MGI
Primary source: MGI:MGI:98973
See related: Ensembl:ENSMUSG00000024066 AllianceGenome:MGI:98973
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: XO; Xor; Xox1; Xox-1
Summary: This gene encodes a member of the xanthine dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein exists as two distinct enzymatic forms, either as xanthine dehydrogenase, or as xanthine oxidase, and functions in purine degradation. Additional studies also suggest a role in adipogenesis, and a function as a structural protein in milk fat droplets in the lactating mammary gland. [provided by RefSeq, Jan 2014]
Expression: Broad expression in duodenum adult (RPKM 55.7), small intestine adult (RPKM 47.7) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 E2; 17 45.25 cM

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (74190890..74257191, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (73883895..73950397, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Xanthine oxidase mediates chronic stress-induced cerebrovascular dysfunction and cognitive impairment.
Title: Xanthine oxidase mediates chronic stress-induced cerebrovascular dysfunction and cognitive impairment.
Release of hepatic xanthine oxidase (XO) to the circulation is protective in intravascular hemolytic crisis.
Title: Release of hepatic xanthine oxidase (XO) to the circulation is protective in intravascular hemolytic crisis.
Tissue xanthine oxidoreductase activity in a mouse model of aristolochic acid nephropathy.
Title: Tissue xanthine oxidoreductase activity in a mouse model of aristolochic acid nephropathy.
Xanthine oxidoreductase knockout mice with high HPRT activity were not rescued by NAD(+) replenishment.
Title: Xanthine oxidoreductase knockout mice with high HPRT activity were not rescued by NAD(+) replenishment.
Xanthine Oxidoreductase-Mediated Superoxide Production Is Not Involved in the Age-Related Pathologies in Sod1-Deficient Mice.
Title: Xanthine Oxidoreductase-Mediated Superoxide Production Is Not Involved in the Age-Related Pathologies in Sod1-Deficient Mice.
Hereditary hemochromatosis disrupts uric acid homeostasis and causes hyperuricemia via altered expression/activity of xanthine oxidase and ABCG2.
Title: Hereditary hemochromatosis disrupts uric acid homeostasis and causes hyperuricemia via altered expression/activity of xanthine oxidase and ABCG2.
The miR-218-xanthine oxidoreductase (XOR) pathway may provide a mechanism and treatment option for nonalcoholic steatohepatitis (NASH).
Title: MiR-218-XOR-ROS Pathway Regulates the Progression of Nonalcoholic Steatohepatitis.
After tumor transfer, XO ki mice show strongly increased tumor growth compared to wild type (WT) and XDH ki mice.
Title: Targeted knock-in mice expressing the oxidase-fixed form of xanthine oxidoreductase favor tumor growth.
Hepatocyte XOR activity is a critical determinant of systemic uric acid homeostasis. Deletion of hepatocyte Xdh is sufficient to prevent systemic hyperuricemia of obesity, and neither prevention nor correction of hyperuricemia improves insulin resistance/dyslipidemia in obesity.
Title: Hepatocyte-Specific Ablation or Whole-Body Inhibition of Xanthine Oxidoreductase in Mice Corrects Obesity-Induced Systemic Hyperuricemia Without Improving Metabolic Abnormalities.
the results identify Xdh gene as one of the major targets of DEHP in newborn ovaries and that the consequent increased level of ROS is possibly responsible for the increment of apoptosis and primordial follicle assembly impairment.
Title: Identification of oxidative stress-related Xdh gene as a di(2-ethylhexyl)phthalate (DEHP) target and the use of melatonin to alleviate the DEHP-induced impairments in newborn mouse ovaries.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

X62932 (e-PCR)
- UniSTS:181062

04.MMHAP91FLB1.seq (e-PCR)
- UniSTS:122793

Xdh (e-PCR), detects polymorphism
- UniSTS:186556

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 2 iron, 2 sulfur cluster binding	ISO Inferred from Sequence Orthology more info
enables FAD binding	IEA Inferred from Electronic Annotation more info
enables flavin adenine dinucleotide binding	ISO Inferred from Sequence Orthology more info
enables hypoxanthine dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables hypoxanthine dehydrogenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables hypoxanthine dehydrogenase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables hypoxanthine oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables hypoxanthine oxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables hypoxanthine oxidase activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables iron-sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molybdenum ion binding	IEA Inferred from Electronic Annotation more info
enables molybdopterin cofactor binding	ISO Inferred from Sequence Orthology more info
enables nitrite reductase (NO-forming) activity	ISO Inferred from Sequence Orthology more info
enables oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
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 dehydrogenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables xanthine dehydrogenase activity	ISO Inferred from Sequence Orthology more info
enables xanthine oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables xanthine oxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables xanthine oxidase activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in AMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in AMP catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in GMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in IMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in IMP catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in adenosine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in adenosine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adenosine catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in allantoin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in allantoin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in allantoin metabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in amide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in amide catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amide catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in dAMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dGMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in deoxyadenosine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in deoxyguanosine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in deoxyinosine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in deoxyinosine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in deoxyinosine catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in guanine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in guanine catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in hypoxanthine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in hypoxanthine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hypoxanthine catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in inosine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in inosine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inosine catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within iron-sulfur cluster assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within lactation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endothelial cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of vascular endothelial growth factor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of vasculogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of p38MAPK cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of reactive oxygen species metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to aluminum ion	ISO Inferred from Sequence Orthology more info
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
involved_in xanthine catabolic process	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in cytosol	ISO Inferred from Sequence Orthology more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
is_active_in peroxisome	ISO Inferred from Sequence Orthology more info	PubMed
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: xanthine dehydrogenase/oxidase

Names: xanthine oxidase; xanthine oxidoreductase

NP_035853.2

EC 1.17.1.4

EC 1.17.3.2

XP_011244683.1

EC 1.17.1.4

EC 1.17.3.2

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.

mRNA and Protein(s)

NM_011723.3 → NP_035853.2 xanthine dehydrogenase/oxidase

See identical proteins and their annotated locations for NP_035853.2

Status: REVIEWED

Source sequence(s)

AI323529, AK008517, AK034256, AK143412, AK161529, BY318674

Consensus CDS

CCDS28967.1

UniProtKB/Swiss-Prot

E9QLM9, Q00519

UniProtKB/TrEMBL

Q3UMS6

Related

ENSMUSP00000024866.5, ENSMUST00000024866.6

Conserved Domains (6) summary

PLN02906
Location:26 → 1321

PLN02906; xanthine dehydrogenase

pfam00941
Location:234 → 414

FAD_binding_5; FAD binding domain in molybdopterin dehydrogenase

pfam01315
Location:590 → 696

Ald_Xan_dh_C; Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain

pfam01799
Location:90 → 160

Fer2_2; [2Fe-2S] binding domain

pfam02738
Location:714 → 1239

Ald_Xan_dh_C2; Molybdopterin-binding domain of aldehyde dehydrogenase

pfam03450
Location:421 → 525

CO_deh_flav_C; CO dehydrogenase flavoprotein C-terminal domain

RNA

NR_189051.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC159187, CT025731

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

74190890..74257191 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011246381.2 → XP_011244683.1 xanthine dehydrogenase/oxidase isoform X1

Conserved Domains (1) summary

PLN02906
Location:5 → 785

PLN02906; xanthine dehydrogenase