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Gene id

7498

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (31414776: 31334319) Exons: 37 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 functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]

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

Tissue specificity: Detected in milk (at protein level). {ECO

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 IPR001041 IPR006058 IPR000674 IPR016208 IPR008274 IPR012675 IPR005107 IPR016169 IPR016166 IPR016167 IPR002346 IPR022407 IPR014307
Prosite:	PS00197 PS51085 PS51387 PS00559
Pfam:	PF01315 PF02738 PF03450 PF00941 PF00111 PF01799
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 pr otein phosphorylation	IDA	biological_process
GO:0001937	negative regulation of en dothelial cell proliferat ion	IDA	biological_process
GO:0004854	xanthine dehydrogenase ac tivity	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 catabol ic process	TAS	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IDA	biological_process
GO:0007595	lactation	IEA	biological_process
GO:0009055	electron carrier activity	IEA	molecular_function
GO:0009115	xanthine catabolic proces s	IDA	biological_process
GO:0009115	xanthine catabolic proces s	IDA	biological_process
GO:0010629	negative regulation of ge ne 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 bi nding	IDA	molecular_function
GO:0045602	negative regulation of en dothelial cell differenti ation	IDA	biological_process
GO:0050660	flavin adenine dinucleoti de binding	IDA	molecular_function
GO:0051537	2 iron, 2 sulfur cluster binding	IDA	molecular_function
GO:0051898	negative regulation of pr otein kinase B signaling	IDA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:1900745	positive regulation of p3 8MAPK cascade	IDA	biological_process
GO:1900747	negative regulation of va scular endothelial growth factor signaling pathway	IDA	biological_process
GO:2000379	positive regulation of re active oxygen species met abolic process	IDA	biological_process
GO:2001213	negative regulation of va sculogenesis	IDA	biological_process
GO:0001933	negative regulation of pr otein phosphorylation	IDA	biological_process
GO:0001937	negative regulation of en dothelial cell proliferat ion	IDA	biological_process
GO:0003824	catalytic activity	IEA	molecular_function
GO:0004854	xanthine dehydrogenase ac tivity	IEA	molecular_function
GO:0004854	xanthine dehydrogenase ac tivity	IEA	molecular_function
GO:0004854	xanthine dehydrogenase ac tivity	IEA	molecular_function
GO:0004854	xanthine dehydrogenase ac tivity	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 catabol ic process	TAS	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IDA	biological_process
GO:0007595	lactation	IEA	biological_process
GO:0009055	electron carrier activity	IEA	molecular_function
GO:0009115	xanthine catabolic proces s	IDA	biological_process
GO:0009115	xanthine catabolic proces s	IDA	biological_process
GO:0010629	negative regulation of ge ne 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 bi nding	IEA	molecular_function
GO:0043546	molybdopterin cofactor bi nding	IDA	molecular_function
GO:0045602	negative regulation of en dothelial cell differenti ation	IDA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0050660	flavin adenine dinucleoti de binding	IEA	molecular_function
GO:0050660	flavin adenine dinucleoti de binding	IDA	molecular_function
GO:0051536	iron-sulfur cluster bindi ng	IEA	molecular_function
GO:0051536	iron-sulfur cluster bindi ng	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 pr otein kinase B signaling	IDA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:1900745	positive regulation of p3 8MAPK cascade	IDA	biological_process
GO:1900747	negative regulation of va scular endothelial growth factor signaling pathway	IDA	biological_process
GO:2000379	positive regulation of re active oxygen species met abolic process	IDA	biological_process
GO:2001213	negative regulation of va sculogenesis	IDA	biological_process
GO:0001933	negative regulation of pr otein phosphorylation	IDA	biological_process
GO:0001937	negative regulation of en dothelial cell proliferat ion	IDA	biological_process
GO:0004854	xanthine dehydrogenase ac tivity	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 catabol ic process	TAS	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IDA	biological_process
GO:0009115	xanthine catabolic proces s	IDA	biological_process
GO:0009115	xanthine catabolic proces s	IDA	biological_process
GO:0010629	negative regulation of ge ne 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 bi nding	IDA	molecular_function
GO:0045602	negative regulation of en dothelial cell differenti ation	IDA	biological_process
GO:0050660	flavin adenine dinucleoti de binding	IDA	molecular_function
GO:0051537	2 iron, 2 sulfur cluster binding	IDA	molecular_function
GO:0051898	negative regulation of pr otein kinase B signaling	IDA	biological_process
GO:1900745	positive regulation of p3 8MAPK cascade	IDA	biological_process
GO:1900747	negative regulation of va scular endothelial growth factor signaling pathway	IDA	biological_process
GO:2000379	positive regulation of re active oxygen species met abolic process	IDA	biological_process
GO:2001213	negative regulation of va sculogenesis	IDA	biological_process

KEGG pathways

hsa01100  Metabolic pathways
hsa04146  Peroxisome
hsa00230  Purine metabolism
hsa00983  Drug metabolism - other enzymes
hsa00232  Caffeine metabolism

Diseases

Associated diseases	References
Blood pressure	PMID: 17622935
Endometriosis	PMID: 11287035
Adenomyosis	INFBASE11287035
Endometriosis	INFBASE11287035
Oligoasthenoteratospermia	PMID: 8671428
Oligoteratozoospermia	PMID: 8671428
Oligozoospermia	PMID: 8671428
Polycystic ovary syndrome (PCOS)	PMID: 22168506
Xanthinuria	KEGG: H00192, OMIM: 607633

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
11287035	Endometrio sis			112 (34 women w ith endometrios is, 34 women wi th adenomyosis, 44 fertile co ntrol women)		xanthine oxidase	Show abstract