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FLASH GENE

Symbol

NR1H4

contributors: mct/npt/pgu - updated : 21-03-2018

HGNC name	nuclear receptor subfamily 1, group H, member 4
HGNC id	7967

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PFIC5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in the liver in PFIC1 with severe cholestasis constitutional     --low   GPBAR1 and NR1H4 expression levels are decreased in the aging kidney and that caloric restriction prevents these age-related decreases constitutional     --over   of NR1H4, NR0B2, SLC10A1 and ABCB11 was significantly up-regulated in the non-alcoholic steatohepatitis (NASH) in comparison with simple steatosis (SS) patients

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	Src-mediated NR1H4 phosphorylation is a potential biomarker for Bile-acid-related enterohepatic diseases
Therapy target
	System Type Disorder Pubmed digestive     NR1H4 agonists may increase gallbladder fluid secretion through transcriptional activation of VIPR1, which may contribute to the regulation of bile secretion by bile salts and to a protective effect of NR1H4 pharmacological agonists in gallstone disease diabete     emerging role of NR1H4 agonists as therapeutic treatment of diabetes and certain liver diseases cardiovascular atheroma   NR1H4-NR0B2 way may be a novel therapeutic target for vascular inflammation, remodeling, and atherosclerotic plaque stability cardiovascular     in smooth muscle cells may serve as a novel molecular target for modulating AGTR2 signalling in the vasculature diabete     activation of both NR1H4 and GPBAR1 may represent an effective therapy for diabetes digestive liver steatosis activation of both NR1H4 and GPBAR1 may represent an effective therapy for managing hepatic steatosis miscelleaneous urinary   NR1H4 and GPBAR1 agonists play an important role in preventing progression of kidney disease, atherosclerosis, and vascular calcification neurology acquired   NR1H4 agonists, such as GW4064, represent a potential therapeutic approach for multiple sclerosis (MS) which specifically targets peripheral immune cells including macrophages but not brain-resident cells, such as oligodendrocytes, astrocytes or microglia immunology infectious   may represent a therapeutic strategy for cholestasis-associated sepsis miscelleaneous vascular ischemic injury is a potential target for the prevention of atherothrombotic disease cancer digestive liver NR1H4-SOCS3 signaling may serve as a new potential target for the prevention/treatment of hepatocellular carcinoma digestive     Src-mediated NR1H4 phosphorylation is a potential therapeutic target for Bile-acid-related enterohepatic diseases

ANIMAL & CELL MODELS

mice lacking expression of Fxr in the intestine were resistant to high-fat diet (HFD)-induced obesity, insulin resistance, and nonalcoholic fatty liver disease, thus confirming that intestinal Fxr is involved in the potentiation of metabolic disease