FXR Gene

http://www.ncbi.nlm.nih.gov/gene/9971

Official Symbol

NR1H4provided by HGNC

Official Full Name

nuclear receptor subfamily 1 group H member 4provided by HGNC

Primary source

HGNC:HGNC:7967

See related

Ensembl:ENSG00000012504; HPRD:04827; MIM:603826; Vega:OTTHUMG00000170359

Gene type

protein coding

RefSeq status

REVIEWED

Organism

Homo sapiens

Lineage

Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Also known as

BAR; FXR; HRR1; HRR-1; RIP14

Summary

This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]

Orthologs Hiiri

Bibliography

Related articles in PubMed

1. Association of FXR gene variants with cholelithiasis. Hirobe-Jahn S, et al. Clin Res Hepatol Gastroenterol, 2015 Feb. PMID 25242139
2. Genome-wide binding and transcriptome analysis of human farnesoid X receptor in primary human hepatocytes. Zhan L, et al. PLoS One, 2014. PMID 25198545, Free PMC Article
3. A farnesoid X receptor polymorphism predisposes to spontaneous bacterial peritonitis. Lutz P, et al. Dig Liver Dis, 2014 Nov. PMID 25086996
4. Promoter DNA methylation of farnesoid X receptor and pregnane X receptor modulates the intrahepatic cholestasis of pregnancy phenotype. Cabrerizo R, et al. PLoS One, 2014. PMID 24498169, Free PMC Article
5. Differential activation of the human farnesoid X receptor depends on the pattern of expressed isoforms and the bile acid pool composition. Vaquero J, et al. Biochem Pharmacol, 2013 Oct 1. PMID 23928191

See all (184) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

1. Three FXR gene variants (rs35724, rs11110385, rs11110386) were identified as potential susceptibility factors for cholelithiasis in a German cohort in gender- and weight-dependent manners
2. these data demonstrate that copper-mediated nuclear receptor dysfunction disrupts liver function in WD and potentially in other disorders associated with increased hepatic copper levels.
3. FXR agonist, GW4064, upregulates adipokine expression in preadipocytes and HepG2 cells.
4. NHR1H4 genotype increases the risk for spontaneous bacterial peritonitis in live cirrhosis patients.
5. Results show that HRG is a novel transcriptional target gene of FXR in human hepatoma cells, human upcyteVR primary hepatocytes and 3D human liver microtissues in vitro and in mouse liver in vivo.
6. established genome-wide human FXR binding and transcriptome profiles. These results will aid in determining the human FXR functions, as well as judging to what level the mouse models could be used to study human FXR functions
7. our data showed that bile acid-activated FXR stimulates miR-22-silenced CCNA2, a novel pathway for FXR to exert its protective effect in the gastrointestinal tract.
8. AB23A produces protective effect against ANIT-induced hepatotoxity and cholestasis, due to FXR-mediated regulation of transporters and enzymes.
9. Low FXR expression is significantly associated with gastric cancer cell proliferation and invasion.
10. Compared with normal gallbladder tissues, FXR expression was decreased and MCL1 expression was increased in GBC, during progression of tumor node metastasis (TNM) stage

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