XDH - xanthine dehydrogenase Gene

Also Known as XO; XOR; XAN1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7498

About XDH

Cytogenetic location: 2p23.1 Genomic coordinates (GRCh38): 2:31,334,321-31,414,742 (from NCBI)

This gene has 3 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in small intestine (RPKM 24.3), duodenum (RPKM 21.4) and 6 other tissues.

Summary

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]

XDH Products (3)

mRNA	Protein	Name
XM_011533095.3	XP_011531397.1	xanthine dehydrogenase/oxidase isoform X1
XM_011533096.3	XP_011531398.1	xanthine dehydrogenase/oxidase isoform X2
NM_000379.4	NP_000370.2	xanthine dehydrogenase/oxidase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 2 iron, 2 sulfur cluster binding	IDA IDA: Inferred from direct assay	17301077	GOA
enables flavin adenine dinucleotide binding	IDA IDA: Inferred from direct assay	17301077	GOA
enables hypoxanthine dehydrogenase activity	IDA IDA: Inferred from direct assay	1619276	GOA
enables molybdopterin cofactor binding	IDA IDA: Inferred from direct assay	17301077	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	17301077	GOA
enables xanthine dehydrogenase activity	IDA IDA: Inferred from direct assay	8670112	GOA
enables xanthine oxidase activity	IDA IDA: Inferred from direct assay	8670112	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in AMP catabolic process	IDA IDA: Inferred from direct assay	1619276	GOA
involved in IMP catabolic process	IDA IDA: Inferred from direct assay	1619276	GOA
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA IDA: Inferred from direct assay	18386220	GOA
involved in allantoin metabolic process	IDA IDA: Inferred from direct assay	1619276	GOA
involved in deoxyinosine catabolic process	IDA IDA: Inferred from direct assay	1619276	GOA
involved in hypoxanthine catabolic process	IDA IDA: Inferred from direct assay	1619276	GOA
involved in inosine catabolic process	IDA IDA: Inferred from direct assay	1619276	GOA
involved in negative regulation of endothelial cell differentiation	IDA IDA: Inferred from direct assay	18386220	GOA
involved in negative regulation of endothelial cell proliferation	IDA IDA: Inferred from direct assay	18386220	GOA
involved in negative regulation of gene expression	IDA IDA: Inferred from direct assay	18386220	GOA
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	18386220	GOA
involved in negative regulation of protein phosphorylation	IDA IDA: Inferred from direct assay	18386220	GOA
involved in negative regulation of vascular endothelial growth factor signaling pathway	IDA IDA: Inferred from direct assay	18386220	GOA
involved in negative regulation of vasculogenesis	IDA IDA: Inferred from direct assay	18386220	GOA
involved in positive regulation of p38MAPK cascade	IDA IDA: Inferred from direct assay	18386220	GOA
involved in positive regulation of reactive oxygen species metabolic process	IDA IDA: Inferred from direct assay	18386220	GOA
involved in xanthine catabolic process	IDA IDA: Inferred from direct assay	8670112	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in cytosol	IDA IDA: Inferred from direct assay	1619276	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

XDH Protein Structure

Fer2

Fer2_2

FAD_binding_5

CO_deh_flav_C

Ald_Xan_dh_C

Ald_Xan_dh_C2

0
300
600
900
1200
1333 a.a.

Protein Preferred Names	Protein Names
xanthine dehydrogenase/oxidase	xanthine oxidoreductase

XDH Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	XDH	P47989	GRIP1	Homo sapiens	Q9Y3R0-3	Y2H Array	32296183
Intra	XDH	P47989	GRIP1	Homo sapiens	Q9Y3R0-3	Y2H Prey Pooling	32296183
Intra	XDH	P47989	GRIP1	Homo sapiens	Q9Y3R0-3	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

XDH Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82212	Xanthine Oxidase Antibody (YA1957)	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Cardiovascular System Disease	Abnormality Of The Cardiovascular System Disease Of Subdivision Of Hemolymphoid System Disorder Of Cardiovascular System Cardiovascular Diseases Cardiovascular Disease
Lesch-Nyhan Syndrome	Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency LNS Hprt Deficiency Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency X-Linked Hyperuricemia Choreoathetosis Self-Mutilation Syndrome Hprt1 Deficiency Hprt Deficiency, Complete Deficiency Of Imp Pyrophosphorylase Hgprt Deficiency Lesch-Nyhan Disease Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency Hg-Prt Deficiency Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency Lesch - Nyhan Syndrome Hprt1 Disorders Lesch Nyhan Syndrome Complete Hprt Deficiency Complete Lesch Nyhan Disease Complete Hprt Deficiency Deficiency Of Guanine Phosphoribosyltransferase Deficiency Of Hypoxanthine Phosphoribosyltransferase Hypoxanthine Phosphoribosyltransferase Deficiency Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome Juvenile Hyperuricemia Syndrome Lnd Primary Hyperuricemia Syndrome Total Hprt Deficiency Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency X-Linked Primary Hyperuricemia X-Linked Uric Aciduria Enzyme Defect Hprt Complete Deficiency Hprt Deficiency Grade Iv Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
Purine-Pyrimidine Metabolic Disorder	Inborn Errors Of Purine-Pyrimidine Metabolism Disorder Of Purine Or Pyrimidine Metabolism
Xanthinuria	Xanthine Dehydrogenase Deficiency Xanthine Oxidase Deficiency Hereditary Xanthinuria Xanthic Urolithiasis Xanthine Stone Disease Xanthinuria, Type I Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase Xdh Deficiency Classic Xanthinuria Xanthinuria, Type Ii Classical Xanthinuria Xanthine Calculus
Ischemia	Acute Coronary Syndrome
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Xanthinuria, Type Ii	Xanthinuria Type Ii XAN2 Xdh And Aox Dual Deficiency Xanthine Dehydrogenase And Aldehyde Oxidase, Combined Deficiency Of Xanthinuria Type 2 Type 2 Xanthinuria Type Ii Xanthinuria Xanthine Dehydrogenase And Aldehyde Oxidase Combined Deficiency Of Xanthine Dehydrogenase And Xanthine Aldehyde Oxidase Dual Deficiency Xanthinuria 2 Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase Xanthic Urolithiasis
Vascular Disease	Vascular Diseases Aneurysm Spinal Cord Ischemia Spinal Cord Vascular Diseases Vascular Tissue Disease Vascular Anomaly
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Molybdenum Cofactor Deficiency	Combined Molybdoflavoprotein Enzyme Deficiency Mocod Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency Deficiency Of Molybdenum Cofactor Deficiency, Molybdenum Cofactor
Xanthinuria, Type I	Xanthine Dehydrogenase Deficiency Xdh Deficiency Xanthine Oxidase Deficiency XAN1 Xanthinuria Type 1 Type 1 Xanthinuria Xanthinuria Type I Xo Deficiency Xor Deficiency Xanthine Oxidoreductase Deficiency Xanthinuria 1 Xanthic Urolithiasis Urolithiasis
Gout	Gouty Arthritis Articular Gout Gouty Arthropathy Arthritis, Gouty Arthritis Gouty Idiopathic Gout Idiopathic Gout, Unspecified Site Gouty Bursitis Uratic Arthritis Gout Nos Gouty Gouty Diathesis
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Adenine Phosphoribosyltransferase Deficiency	Aprt Deficiency 2,8-Dihydroxyadenine Urolithiasis APRTD 2,8-Dihydroxyadeninuria Dihydroxyadeninuria Urolithiasis, 2,8-Dihydroxyadenine Urolithiasis, Dha Nephrolithiasis, Dha Dha Crystalline Nephropathy Nephrolithiasis Dha Urolithiasis Dha
Alzheimer Disease 17	AD17 Alzheimer'S Disease 17 Alzheimer Disease 17, Late-Onset Alzheimer Disease 17, Late Onset
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
Molybdenum Cofactor Deficiency, Complementation Group B	MOCODB Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type B Molybdenum Cofactor Deficiency B Molybdenum Cofactor Deficiency Type B Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type B Mocod Type B Molybdenum Cofactor Deficiency Complementation Group B Deficiency, Molybdenum Cofactor, Complementation Group B
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Mediastinal Lipomatosis
Urolithiasis
Hyperuricemia	Blood Urate Raized Uricacidemia
Nephrolithiasis, Uric Acid	Nephrolithiasis, Uric Acid, Susceptibility To Uric Acid Urolithiasis Uric Acid Nephrolithiasis UAN Acute Urate Nephropathy Urolithiasis, Uric Acid Urolithiasis, Uric Acid, Susceptibility To Uric Acid Renal Calculus
Familial Thyroid Dyshormonogenesis	Thyroid Dyshormonogenesis Familial Dyshormonogenetic Goiter
Pre-Eclampsia	Preeclampsia Gestational Hypertension Hypertension Induced By Pregnancy Pre-Eclamptic Toxaemia Pregnancy Associated Hypertension Proteinuric Hypertension Of Pregnancy Hypertension, Pregnancy-Induced, Susceptibility To Preeclampsia/Eclampsia Pregnancy Toxemia Toxaemia Of Pregnancy Gestational Proteinuric Hypertension Pregnancy-Induced Hypertension Toxemia Of Pregnancy Preeclampsia, Susceptibility To Transient Hypertension Of Pregnancy Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria Gestational Hypertension Nos Mild Proteinuric Hypertension Of Pregnancy Pih - [Pregnancy-Induced Hypertension] Pregnancy-Induced Hypertension Nos Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria Pe - [Pre-Eclampsia] Pre-Eclampsia Nos Pre-Eclamptic Nos Pregnancy Pre-Eclampsia Puerperal Pre-Eclampsia Pre-Eclampsia Toxaemia Toxaemia In Pregnancy Pet - [Pre-Eclamptic Toxaemia] Maternal Toxaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W012658	2-Methylacetophenone	Inhibitor	99.60%	Unkown
HY-RS15869	XDH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS15870	Xdh Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-106300	AA 193	Inhibitor	/	Unkown
HY-RS13573	SORD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS15871	Xdh Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W012658R	2-Methylacetophenone (Standard)	Inhibitor	/	Unkown
HY-RS18973	Sord Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25462	Sord Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	XDH	VGNC	VGNC:48448
Mus musculus	XDH	MGD	MGI:98973
Rattus norvegicus	XDH	RGD	RGD:62043
Macaca mulatta	XDH	VGNC	VGNC:78807
Bos taurus	XDH	VGNC	VGNC:36984