ENSG00000158125
Homo sapiens xanthine dehydrogenase binding XDH regulation activity superfamily aldehyde oxidase fe- s domain molybdopterin process fad-binding oxidoreductase b type protein endothelial cell hammerhead iron-sulfur -binding co flavoprotein c-terminal site purine catabolic electron
Features Gene ID: ENSG00000158125 Biological name :XDH Synonyms : P47989 / / 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 - ENSP000003687277498
See in Manteia .
607633 XM_011533096 NM_000379 XM_011533095 NP_000370 P47989 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 )Paralog prediction (from Ensembl )Protein motifs (from Interpro ) 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 ) nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process epithelial cell proliferation biosynthetic process catabolic process small molecule metabolic process regulation of molecular function cell death establishment of localization regulation of biological quality anatomical structure development oxidation-reduction process cellular developmental process cell communication cellular response to stimulus response to stress response to chemical nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process epithelial cell proliferation biosynthetic process catabolic process small molecule metabolic process regulation of molecular function cell death establishment of localization regulation of biological quality anatomical structure development oxidation-reduction process cellular developmental process cell communication cellular response to stimulus response to stress response to chemical nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process epithelial cell proliferation biosynthetic process catabolic process small molecule metabolic process regulation of molecular function cell death establishment of localization regulation of biological quality anatomical structure development oxidation-reduction process cellular developmental process cell communication cellular response to stimulus response to stress response to chemical nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process epithelial cell proliferation biosynthetic process catabolic process small molecule metabolic process regulation of molecular function cell death establishment of localization regulation of biological quality anatomical structure development oxidation-reduction process cellular developmental process cell communication cellular response to stimulus response to stress response to chemical nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process epithelial cell proliferation biosynthetic process catabolic process small molecule metabolic process regulation of molecular function cell death establishment of localization regulation of biological quality anatomical structure development oxidation-reduction process cellular developmental process cell communication cellular response to stimulus response to stress response to chemical nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process epithelial cell proliferation biosynthetic process catabolic process small molecule metabolic process regulation of molecular function cell death establishment of localization regulation of biological quality anatomical structure development oxidation-reduction process cellular developmental process cell communication cellular response to stimulus response to stress response to chemical nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process epithelial cell proliferation biosynthetic process catabolic process small molecule metabolic process regulation of molecular function cell death establishment of localization regulation of biological quality anatomical structure development oxidation-reduction process cellular developmental process cell communication cellular response to stimulus response to stress response to chemical nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process epithelial cell proliferation biosynthetic process catabolic process small molecule metabolic process regulation of molecular function cell death establishment of localization regulation of biological quality anatomical structure development oxidation-reduction process cellular developmental process cell communication cellular response to stimulus response to stress response to chemical nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process epithelial cell proliferation biosynthetic process catabolic process small molecule metabolic process regulation of molecular function cell death establishment of localization regulation of biological quality anatomical structure development oxidation-reduction process cellular developmental process cell communication cellular response to stimulus response to stress response to chemical nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process epithelial cell proliferation biosynthetic process catabolic process small molecule metabolic process regulation of molecular function cell death establishment of localization regulation of biological quality anatomical structure development oxidation-reduction process cellular developmental process cell communication cellular response to stimulus response to stress response to chemical nitrogenitrogen compound metabolic process cellulacellular metabolic process primaryprimary metabolic process organicorganic substance metabolic process epithelepithelial cell proliferation biosyntbiosynthetic process catabolcatabolic process small msmall molecule metabolic process regulatregulation of molecular function cell decell death establiestablishment of localization regulatregulation of biological quality anatomianatomical structure development oxidatioxidation-reduction process cellulacellular developmental process cell cocell communication cellulacellular response to stimulus responsresponse to stress responsresponse to chemical oxidoreductase activity ion binding protein binding organic cyclic compound binding heterocyclic compound binding cofactor binding small molecule binding metal cluster binding oxidoreductase activity ion binding protein binding organic cyclic compound binding heterocyclic compound binding cofactor binding small molecule binding metal cluster binding oxidoreductase activity ion binding protein binding organic cyclic compound binding heterocyclic compound binding cofactor binding small molecule binding metal cluster binding oxidoreductase activity ion binding protein binding organic cyclic compound binding heterocyclic compound binding cofactor binding small molecule binding metal cluster binding oxidoreductase activity ion binding protein binding organic cyclic compound binding heterocyclic compound binding cofactor binding small molecule binding metal cluster binding oxidoreductase activity ion binding protein binding organic cyclic compound binding heterocyclic compound binding cofactor binding small molecule binding metal cluster binding oxidoreductase activity ion binding protein binding organic cyclic compound binding heterocyclic compound binding cofactor binding small molecule binding metal cluster binding oxidoreductase activity ion binding protein binding organic cyclic compound binding heterocyclic compound binding cofactor binding small molecule binding metal cluster binding oxidoreductase activity ion binding protein binding organic cyclic compound binding heterocyclic compound binding cofactor binding small molecule binding metal cluster binding oxidoreductase activity ion binding protein binding organic cyclic compound binding heterocyclic compound binding cofactor binding small molecule binding metal cluster binding oxidoreductase acoxidoreductase activity ion bindingion binding protein bindingprotein binding organic cyclic coorganic cyclic compound binding heterocyclic compheterocyclic compound binding cofactor bindingcofactor binding small molecule bismall molecule binding metal cluster binmetal cluster binding extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular regionextracellular region cellcell organelleorganelle
Pathways (from Reactome )Phenotype (from MGI , Zfin or HPO ) Autosomal recessive inheritance Genitourinary abnormality Metabolism abnormality Abnormality of musculature Immunological abnormality Autosomal recessive inheritance Genitourinary abnormality Metabolism abnormality Abnormality of musculature Immunological abnormality Autosomal recessive inheritance Genitourinary abnormality Metabolism abnormality Abnormality of musculature Immunological abnormality Autosomal recessive inheritance Genitourinary abnormality Metabolism abnormality Abnormality of musculature Immunological abnormality Autosomal recessive inheritance Genitourinary abnormality Metabolism abnormality Abnormality of musculature Immunological abnormality Autosomal recessive inheritance Genitourinary abnormality Metabolism abnormality Abnormality of musculature Immunological abnormality Autosomal recessive inheritance Genitourinary abnormality Metabolism abnormality Abnormality of musculature Immunological abnormality Autosomal recessive inheritance Genitourinary abnormality Metabolism abnormality Abnormality of musculature Immunological abnormality Autosomal recessive inheritance Genitourinary abnormality Metabolism abnormality Abnormality of musculature Immunological abnormality Autosomal recessive inheritance Genitourinary abnormality Metabolism abnormality Abnormality of musculature Immunological abnormality Autosomal recessive inheritaAutosomal recessive inheritance Genitourinary abnormalityGenitourinary abnormality Metabolism abnormalityMetabolism abnormality Abnormality of musculatureAbnormality of musculature Immunological abnormalityImmunological abnormality 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]
Show HP:0000126 Hydronephrosis
Show HP:0000804 Urinary xanthine stones
Show HP:0001939 Metabolism abnormality
Show HP:0003198 Myopathy
Show HP:0003534 Xanthine dehydrogenase deficiency
Show HP:0010934 Xanthinuria "An increased concentration of `xanthine` (CHEBI:15318) in the `urine` (FMA:12274)." [HPO:gcarletti]
Show 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 ) ENSG00000124557 BTN1A1 / Q13410 / butyrophilin subfamily 1 member A1 / complex / reaction ENSG00000158125 XDH / P47989 / xanthine dehydrogenase / complex
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