• Gene id: 7498

Gene Summary

• Gene Symbol: XDH   Gene   UCSC   Ensembl
• Aliases: XAN1, XO, XOR
• Gene name: xanthine dehydrogenase
• Alternate names: xanthine dehydrogenase/oxidase, xanthine oxidoreductase,
• Gene location: 2p23.1 (241858907: 241849880)     Exons: 6     NC_000002.12
• Gene summary(Entrez): 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 f
• OMIM: 607633

Protein Summary

• Protein general information: P47989  
  • Name: Xanthine dehydrogenase/oxidase [Includes: Xanthine dehydrogenase (XD) (EC 1.17.1.4); Xanthine oxidase (XO) (EC 1.17.3.2) (Xanthine oxidoreductase) (XOR)]
  • Length: 1333  
  • Mass: 146,424
• Sequence:

  MTADKLVFFVNGRKVVEKNADPETTLLAYLRRKLGLSGTKLGCGEGGCGACTVMLSKYDRLQNKIVHFSANACLA
  PICSLHHVAVTTVEGIGSTKTRLHPVQERIAKSHGSQCGFCTPGIVMSMYTLLRNQPEPTMEEIENAFQGNLCRC
  TGYRPILQGFRTFARDGGCCGGDGNNPNCCMNQKKDHSVSLSPSLFKPEEFTPLDPTQEPIFPPELLRLKDTPRK
  QLRFEGERVTWIQASTLKELLDLKAQHPDAKLVVGNTEIGIEMKFKNMLFPMIVCPAWIPELNSVEHGPDGISFG
  AACPLSIVEKTLVDAVAKLPAQKTEVFRGVLEQLRWFAGKQVKSVASVGGNIITASPISDLNPVFMASGAKLTLV
  SRGTRRTVQMDHTFFPGYRKTLLSPEEILLSIEIPYSREGEYFSAFKQASRREDDIAKVTSGMRVLFKPGTTEVQ
  ELALCYGGMANRTISALKTTQRQLSKLWKEELLQDVCAGLAEELHLPPDAPGGMVDFRCTLTLSFFFKFYLTVLQ
  KLGQENLEDKCGKLDPTFASATLLFQKDPPADVQLFQEVPKGQSEEDMVGRPLPHLAADMQASGEAVYCDDIPRY
  ENELSLRLVTSTRAHAKIKSIDTSEAKKVPGFVCFISADDVPGSNITGICNDETVFAKDKVTCVGHIIGAVVADT
  PEHTQRAAQGVKITYEELPAIITIEDAIKNNSFYGPELKIEKGDLKKGFSEADNVVSGEIYIGGQEHFYLETHCT
  IAVPKGEAGEMELFVSTQNTMKTQSFVAKMLGVPANRIVVRVKRMGGGFGGKETRSTVVSTAVALAAYKTGRPVR
  CMLDRDEDMLITGGRHPFLARYKVGFMKTGTVVALEVDHFSNVGNTQDLSQSIMERALFHMDNCYKIPNIRGTGR
  LCKTNLPSNTAFRGFGGPQGMLIAECWMSEVAVTCGMPAEEVRRKNLYKEGDLTHFNQKLEGFTLPRCWEECLAS
  SQYHARKSEVDKFNKENCWKKRGLCIIPTKFGISFTVPFLNQAGALLHVYTDGSVLLTHGGTEMGQGLHTKMVQV
  ASRALKIPTSKIYISETSTNTVPNTSPTAASVSADLNGQAVYAACQTILKRLEPYKKKNPSGSWEDWVTAAYMDT
  VSLSATGFYRTPNLGYSFETNSGNPFHYFSYGVACSEVEIDCLTGDHKNLRTDIVMDVGSSLNPAIDIGQVEGAF
  VQGLGLFTLEELHYSPEGSLHTRGPSTYKIPAFGSIPIEFRVSLLRDCPNKKAIYASKAVGEPPLFLAASIFFAI
  KDAIRAARAQHTGNNVKELFRLDSPATPEKIRNACVDKFTTLCVTGVPENCKPWSVRV

• Structural information:
  • Protein Domains: 2Fe-2S (4-91)
    FAD-binding (229-414)
  • Interpro: IPR002888  IPR036884  IPR036010  IPR001041  IPR006058   IPR000674  IPR036856  IPR016208  IPR008274  IPR037165  IPR005107  IPR036683  IPR016166  IPR036318  IPR002346  IPR022407  IPR014307  
  • Prosite: PS00197 PS51085 PS51387 PS00559
  • PDB: 2CKJ 2E1Q
  • PDBsum: 2CKJ 2E1Q
  • STRING: ENSP00000368727
• Other Databases: GeneCards:  XDH  Malacards:  XDH

Gene ontology

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

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04146	Peroxisome

Diseases

Associated diseases	References
Cancer (meningeal)	GAD: 20406964
Cancer (Squamous cell)	GAD: 18649358
Cancer (brain)	GAD: 19505917
Carotid artery diseases	GAD: 18712049
Inflammatory bowel disease	GAD: 19500084
Chronic renal failure	GAD: 21085059
Adenomyosis	INFBASE: 11287035
Polycystic ovary syndrome (PCOS)	INFBASE: 22168506
Oligoasthenoteratospermia	MIK: 8671428
Oligozoospermia	MIK: 8671428
Oligoteratospermia	MIK: 8671428
Endometriosis	INFBASE: 11287035
Xanthinuria	KEGG: H00192
Oligozoospermia	MIK: 8671428
Oligoasthenoteratospermia	MIK: 8671428
Oligoteratospermia	MIK: 8671428
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
8671428	Oligospermic, oligoasthenoteratospermia, oligoteratospermic			73 (10 healthy, fertile volunteers and 63 infertile males)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)