ENSG00000158125


Homo sapiens

Features
Gene ID: ENSG00000158125
  
Biological name :XDH
  
Synonyms : P47989 / xanthine dehydrogenase / XDH
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: p23.1
Gene start: 31334321
Gene end: 31414715
  
Corresponding Affymetrix probe sets: 210301_at (Human Genome U133 Plus 2.0 Array)   241994_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000368727
NCBI entrez gene - 7498     See in Manteia.
OMIM - 607633
RefSeq - XM_011533096
RefSeq - NM_000379
RefSeq - XM_011533095
RefSeq Peptide - NP_000370
swissprot - P47989
Ensembl - ENSG00000158125
  
Related genetic diseases (OMIM): 278300 - Xanthinuria, type I, 278300
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 xdhENSDARG00000055240Danio rerio
 XDHENSGALG00000008701Gallus gallus
 XdhENSMUSG00000024066Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AOX1 / Q06278 / aldehyde oxidase 1ENSG0000013835650


Protein motifs (from Interpro)
Interpro ID Name
 IPR000674  Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead
 IPR001041  2Fe-2S ferredoxin-type iron-sulfur binding domain
 IPR002346  Molybdopterin dehydrogenase, FAD-binding
 IPR002888  [2Fe-2S]-binding
 IPR005107  CO dehydrogenase flavoprotein, C-terminal
 IPR006058  2Fe-2S ferredoxin, iron-sulphur binding site
 IPR008274  Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding
 IPR012675  Beta-grasp domain superfamily
 IPR014307  Xanthine dehydrogenase, small subunit
 IPR016166  FAD-binding, type 2
 IPR016167  FAD-binding, type 2, subdomain 1
 IPR016208  Aldehyde oxidase/xanthine dehydrogenase
 IPR022407  Oxidoreductase, molybdopterin binding site
 IPR036010  2Fe-2S ferredoxin-like superfamily
 IPR036318  FAD-binding, type 2-like superfamily
 IPR036683  CO dehydrogenase flavoprotein, C-terminal domain superfamily
 IPR036856  Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead superfamily
 IPR036884  [2Fe-2S]-binding domain superfamily
 IPR037165  Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001933 negative regulation of protein phosphorylation IDA
 biological_processGO:0001937 negative regulation of endothelial cell proliferation IDA
 biological_processGO:0006195 purine nucleotide catabolic process TAS
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
 biological_processGO:0007595 lactation IEA
 biological_processGO:0009115 xanthine catabolic process IDA
 biological_processGO:0010629 negative regulation of gene expression IDA
 biological_processGO:0022900 electron transport chain IEA
 biological_processGO:0030856 regulation of epithelial cell differentiation IEA
 biological_processGO:0045602 negative regulation of endothelial cell differentiation IDA
 biological_processGO:0051898 negative regulation of protein kinase B signaling IDA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:1900745 positive regulation of p38MAPK cascade IDA
 biological_processGO:1900747 negative regulation of vascular endothelial growth factor signaling pathway IDA
 biological_processGO:2000379 positive regulation of reactive oxygen species metabolic process IDA
 biological_processGO:2001213 negative regulation of vasculogenesis IDA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005777 peroxisome IEA
 cellular_componentGO:0005829 cytosol IBA
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004854 xanthine dehydrogenase activity IDA
 molecular_functionGO:0004855 xanthine oxidase activity EXP
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0009055 electron transfer activity IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016614 oxidoreductase activity, acting on CH-OH group of donors IEA
 molecular_functionGO:0016903 oxidoreductase activity, acting on the aldehyde or oxo group of donors IBA
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0043546 molybdopterin cofactor binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0050660 flavin adenine dinucleotide binding IDA
 molecular_functionGO:0051536 iron-sulfur cluster binding IEA
 molecular_functionGO:0051537 2 iron, 2 sulfur cluster binding IDA


Pathways (from Reactome)
Pathway description
Purine catabolism
Butyrophilin (BTN) family interactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000126 Hydronephrosis 
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 HP:0000804 Urinary xanthine stones 
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 HP:0001939 Metabolism abnormality 
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 HP:0003198 Myopathy 
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 HP:0003534 Xanthine dehydrogenase deficiency 
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 HP:0010934 Xanthinuria "An increased concentration of `xanthine` (CHEBI:15318) in the `urine` (FMA:12274)." [HPO:gcarletti]
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 HP:0012330 Pyelonephritis "An inflammation of the `kidney` (FMA:7203) involving the `parenchyma of kidney` (FMA:15574), the renal pelvis (FMA:15575) and the kidney calices." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000124557 BTN1A1 / Q13410 / butyrophilin subfamily 1 member A1  / reaction / complex
 ENSG00000158125 XDH / P47989 / xanthine dehydrogenase  / complex






 

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