Xdh
Gene Detail

Symbol Name ID

Xdh xanthine dehydrogenase MGI:98973

Synonyms

xanthine oxidase, XO, Xor, Xox1, Xox-1

Feature Type

protein coding gene

Genetic Map

Chromosome 17

45.25 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)

Sequence Map

Chr17:73883908-73950182 bp, - strand From NCBI annotation of GRCm38   66275 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:324  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: xanthine dehydrogenase
Gene Tree: Xdh

Human homologs

Human Homolog		XDH, xanthine dehydrogenase
NCBI Gene ID		7498
neXtProt AC		NX_P47989
Human Synonyms		XO, XOR
Human Chr (Location)		2p23.1; chr2:31557188-31637611 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human XDH

Alleles and phenotypes

All alleles(4) : Targeted(3) Chemically induced(1)
 

Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress.

 

Gene Ontology (GO) classifications

All GO classifications: (45 annotations)

Process	activation of cysteine-type endopeptidase activity involved in apoptotic process, bone resorption, ...
Component	cytoplasm, cytosol, ...
Function	2 iron, 2 sulfur cluster binding, catalytic activity, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (103)    Tissues (99)    Images (7)
Theiler Stages: 9, 11, 13, 15, 22, 23

Assay Type	Results
RNA in situ	99
RT-PCR	4

cDNA source data(106)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(122) Genomic(11) cDNA(108) Primer pair(2) Other(1)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000024066 (Evidence)
Entrez Gene	22436 (Evidence)
UniGene	11223
DFCI	TC1581763, TC1597502
DoTS	DT.101735203, DT.50316624, DT.99853960
NIA Mouse Gene Index	U038047
EC	1.17.1.4, 1.17.3.2
Consensus CDS Project	CCDS28967.1
International Mouse Knockout Project Status	Xdh

Sequences

Length	Strain/Species
genomic	22436	NCBI Gene Model | MGI Sequence Detail	66275	C57BL/6J
transcript	NM_011723	RefSeq | MGI Sequence Detail	4587	Not Specified
polypeptide	Q00519	UniProt | EBI | MGI Sequence Detail	1335	Not Applicable

All sequences(72) RefSeq(2) UniProt(7)

Polymorphisms

RFLP(5) : SNPs(360 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002888	[2Fe-2S]-binding
InterPro	IPR006058	2Fe-2S ferredoxin, iron-sulphur binding site
InterPro	IPR001041	2Fe-2S ferredoxin-type domain
InterPro	IPR016208	Aldehyde oxidase/xanthine dehydrogenase
InterPro	IPR000674	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead
InterPro	IPR008274	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding
InterPro	IPR012675	Beta-grasp domain
InterPro	IPR005107	CO dehydrogenase flavoprotein, C-terminal
InterPro	IPR016169	CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2
InterPro	IPR016166	FAD-binding, type 2
InterPro	IPR016167	FAD-binding, type 2, subdomain 1
InterPro	IPR002346	Molybdopterin dehydrogenase, FAD-binding
InterPro	IPR022407	Oxidoreductase, molybdopterin binding site
InterPro	IPR014309	Xanthine dehydrogenase, molybdopterin binding subunit
InterPro	IPR014307	Xanthine dehydrogenase, small subunit
Protein Ontology	PR:000017477	xanthine dehydrogenase/oxidase
Protein Ontology	PR:000027788	xanthine dehydrogenase/oxidase (mouse)

Graphical View of Protein Domain Structure

References

(Earliest) J:6662 Holmes RS, et al., Liver aldehyde oxidase and xanthine oxidase genetics in the mouse. Anim Blood Groups Biochem Genet. 1981;12(3):193-9
(Latest) J:191877 Piret SE, et al., A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation. PLoS One. 2012;7(9):e45217
All references(57)

Other accession IDs

MGD-MRK-15471, MGD-MRK-15798, MGD-MRK-15799