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FLASH GENE

Symbol

XDH

contributors: mct - updated : 10-05-2017

HGNC name	xanthine dehydrogenase
HGNC id	12805

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	XDH1 xanthinuria type I
Location	2p23.1      Physical location : 31.557.187 - 31.637.611
Synonym name	xanthine oxidase
	xanthine oxidoreductase
	xanthine dehydrogenase/oxidase
Synonym symbol(s)	XO, XOR, XDHA, XAN1, XOD
EC.number	1.17.1.4, 1.17.3.2

DNA

TYPE	functioning gene
STRUCTURE	80.46 kb     36 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	NF-Y binding site considerably increases the promoter activity (important functional role for NF-Y in the transcriptional activation)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000379 36 - 5717 NP_000370 - 1333 - 2017 28299863

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon       intestine small intestine         liver         Endocrine neuroendocrine pituitary       Respiratory respiratory tract larynx

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

xanthine dehydrogenase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,peroxisome
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic
text	expressed primarily in hepatocytes, but is also present in bile duct epithelial cells and is secreted into bile

basic FUNCTION	xanthine oxidase (dehydrogenase), catalyzing the oxidation of hypoxanthine to purine and purine to uric acid
	plays a physiological role in milk (e.g. in secretion) equal in importance to its catalytic function as an enzyme
	synergistic action with ALOXE3, group of oxidized fatty acids which can function as PPAR{gamma} activators
	required for functional differentiation of mammary epithelial cells
	XDH activity and/or its expression level to contribute to macrophage foam cell formation
	activity creates both oxidant and anti-oxidant products that are implicated in the development of hypertension, smoking vascular injury, dyslipidemia and diabetes, which are the main risk factors of atherosclerosis
	is abundant in wounds and participates in normal wound healing through effects on ROS production
	catalyzes the formation of uric acid (UA) from hypoxanthine and xanthine, which in turn are products of purine metabolism starting from ribose-5-phosphate
	XDH activity may be potentially involved in adiposity and subclinical inflammation in humans

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

noncanonical molecular pathway in which, after the inhibition of CTSS, autophagy induces early ROS production for oxidative DNA damage and cell death through XDH

a component

INTERACTION

DNA

RNA

small molecule

protein	HGF prevents XDH activation following hypoxia/reoxygenation (H/R) primarily by inhibiting the JAK2 signaling pathway and in turn, inhibiting the increase in cytosolic Ca2+
	DKK3 promotes cell survival during oxidative stress by suppressing the expression of the superoxide-producing enzyme XDH

cell & other

REGULATION

activated by

is not only activated by pro-inflammatory stimuli or stem cell growth factor (SCF) but also plays an important role in maintaining MTOR-dependent translational control during the biological responses of human myeloid cells

ASSOCIATED DISORDERS

corresponding disease(s)

XDH1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in liver disease (cirrhosis)

Susceptibility

to hypertension

Variant & Polymorphism other	XDH gene polymorphisms rs1042039, rs1054889, and rs2073316 may be associated with hypertension

Candidate gene
Marker	is a breast cancer biomarker
Therapy target
	System Type Disorder Pubmed diabete metabolic syndrom   XDH inhibitors may be useful for preventing atherosclerosis cancer reproductive breast target for pharmacologic activation in therapeutic management of aggressive breast cancer

ANIMAL & CELL MODELS