ID:NR1H4_HUMAN DESCRIPTION: RecName: Full=Bile acid receptor; AltName: Full=Farnesoid X-activated receptor; AltName: Full=Farnesol receptor HRR-1; AltName: Full=Nuclear receptor subfamily 1 group H member 4; AltName: Full=Retinoid X receptor-interacting protein 14; Short=RXR-interacting protein 14; FUNCTION: Ligand-activated transcription factor. Receptor for bile acids such as chenodeoxycholic acid, lithocholic acid and deoxycholic acid. Represses the transcription of the cholesterol 7-alpha-hydroxylase gene (CYP7A1) through the induction of NR0B2 or FGF19 expression, via two distinct mechanisms. Activates the intestinal bile acid-binding protein (IBABP). Activates the transcription of bile salt export pump ABCB11 by directly recruiting histone methyltransferase CARM1 to this locus. SUBUNIT: Heterodimer of NR1H4 and RXR. After activation by agonist binding, interacts with a coactivator, NCOA1 or NCOA2 (By similarity). Interacts with CARM1 and SMARD1. SUBCELLULAR LOCATION: Nucleus (Probable). SIMILARITY: Belongs to the nuclear hormone receptor family. NR1 subfamily. SIMILARITY: Contains 1 nuclear receptor DNA-binding domain. WEB RESOURCE: Name=Wikipedia; Note=Farnesoid X receptor entry; URL="http://en.wikipedia.org/wiki/Farnesoid_X_receptor";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96RI1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000976 transcription regulatory region sequence-specific DNA binding GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003707 steroid hormone receptor activity GO:0003713 transcription coactivator activity GO:0003714 transcription corepressor activity GO:0004879 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004887 thyroid hormone receptor activity GO:0005515 protein binding GO:0008270 zinc ion binding GO:0016922 ligand-dependent nuclear receptor binding GO:0032052 bile acid binding GO:0038181 bile acid receptor activity GO:0043565 sequence-specific DNA binding GO:0046872 metal ion binding GO:0046965 retinoid X receptor binding GO:1902122 chenodeoxycholic acid binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001080 nitrogen catabolite activation of transcription from RNA polymerase II promoter GO:0002376 immune system process GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006367 transcription initiation from RNA polymerase II promoter GO:0006954 inflammatory response GO:0007043 cell-cell junction assembly GO:0007165 signal transduction GO:0007219 Notch signaling pathway GO:0008206 bile acid metabolic process GO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway GO:0010988 regulation of low-density lipoprotein particle clearance GO:0015721 bile acid and bile salt transport GO:0030522 intracellular receptor signaling pathway GO:0032088 negative regulation of NF-kappaB transcription factor activity GO:0032689 negative regulation of interferon-gamma production GO:0032692 negative regulation of interleukin-1 production GO:0032703 negative regulation of interleukin-2 production GO:0032715 negative regulation of interleukin-6 production GO:0032720 negative regulation of tumor necrosis factor production GO:0034142 toll-like receptor 4 signaling pathway GO:0034162 toll-like receptor 9 signaling pathway GO:0034255 regulation of urea metabolic process GO:0034971 histone H3-R17 methylation GO:0035356 cellular triglyceride homeostasis GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0038183 bile acid signaling pathway GO:0038185 intracellular bile acid receptor signaling pathway GO:0042593 glucose homeostasis GO:0042632 cholesterol homeostasis GO:0042742 defense response to bacterium GO:0043066 negative regulation of apoptotic process GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling GO:0043401 steroid hormone mediated signaling pathway GO:0045087 innate immune response GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0046628 positive regulation of insulin receptor signaling pathway GO:0050728 negative regulation of inflammatory response GO:0055089 fatty acid homeostasis GO:0061178 regulation of insulin secretion involved in cellular response to glucose stimulus GO:0070328 triglyceride homeostasis GO:0070857 regulation of bile acid biosynthetic process GO:0070858 negative regulation of bile acid biosynthetic process GO:0071222 cellular response to lipopolysaccharide GO:0071398 cellular response to fatty acid GO:0071417 cellular response to organonitrogen compound GO:0071638 negative regulation of monocyte chemotactic protein-1 production GO:0072615 interleukin-17 secretion GO:0090181 regulation of cholesterol metabolic process GO:1902714 negative regulation of interferon-gamma secretion GO:1904179 positive regulation of adipose tissue development GO:1904468 negative regulation of tumor necrosis factor secretion GO:1905695 positive regulation of phosphatidic acid biosynthetic process GO:2000213 positive regulation of glutamate metabolic process GO:2001250 positive regulation of ammonia assimilation cycle GO:2001275 positive regulation of glucose import in response to insulin stimulus
AK312959 - Homo sapiens cDNA, FLJ93416, highly similar to Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), mRNA. U68233 - Human farnesol receptor HRR-1 (HRR-1) mRNA, complete cds. BC130573 - Homo sapiens nuclear receptor subfamily 1, group H, member 4, mRNA (cDNA clone MGC:163445 IMAGE:40146604), complete cds. BC144183 - Homo sapiens cDNA clone IMAGE:9052703. BC144184 - Homo sapiens nuclear receptor subfamily 1, group H, member 4, mRNA (cDNA clone MGC:177721 IMAGE:9052704), complete cds. BC144187 - Homo sapiens cDNA clone IMAGE:9052707, containing frame-shift errors. BC035654 - Homo sapiens cDNA clone IMAGE:5588144, containing frame-shift errors. HQ258257 - Synthetic construct Homo sapiens clone IMAGE:100072566 Unknown protein gene, encodes complete protein. KJ902045 - Synthetic construct Homo sapiens clone ccsbBroadEn_11439 NR1H4 gene, encodes complete protein. KR711714 - Synthetic construct Homo sapiens clone CCSBHm_00028857 NR1H4 (NR1H4) mRNA, encodes complete protein. KR711715 - Synthetic construct Homo sapiens clone CCSBHm_00028858 NR1H4 (NR1H4) mRNA, encodes complete protein. AB307699 - Homo sapiens NR1H4 mRNA for farnesoid X receptor, complete cds. AF384555 - Homo sapiens farnesol receptor (NR1H4) mRNA, complete cds, alternatively spliced. HQ709175 - Homo sapiens farnesoid X nuclear receptor (NR1H4) mRNA, complete cds. AF478445 - Homo sapiens farnesoid-X-receptor beta splice variant 1 (NR1H4) mRNA, complete cds; alternatively spliced. AF478446 - Homo sapiens farnesoid-X-receptor beta splice variant 2 (NR1H4) mRNA, complete cds; alternatively spliced. AK296612 - Homo sapiens cDNA FLJ52315 complete cds, highly similar to Bile acid receptor. BX571749 - Homo sapiens mRNA; cDNA DKFZp686P04237 (from clone DKFZp686P04237). AB463943 - Synthetic construct DNA, clone: pF1KB7740, Homo sapiens NR1H4 gene for nuclear receptor subfamily 1, group H, member 4, without stop codon, in Flexi system. BC071778 - Homo sapiens nuclear receptor subfamily 1, group H, member 4, mRNA (cDNA clone IMAGE:4606016), partial cds. AK296647 - Homo sapiens cDNA FLJ50792 complete cds, highly similar to Bile acid receptor. JD138064 - Sequence 119088 from Patent EP1572962. JD174302 - Sequence 155326 from Patent EP1572962. JD302822 - Sequence 283846 from Patent EP1572962. JD252562 - Sequence 233586 from Patent EP1572962. JD351969 - Sequence 332993 from Patent EP1572962. JD340552 - Sequence 321576 from Patent EP1572962. JD042621 - Sequence 23645 from Patent EP1572962. JD043404 - Sequence 24428 from Patent EP1572962. JD400759 - Sequence 381783 from Patent EP1572962. JD043091 - Sequence 24115 from Patent EP1572962. JD277007 - Sequence 258031 from Patent EP1572962. JD561878 - Sequence 542902 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_fxrPathway - FXR and LXR Regulation of Cholesterol Metabolism h_nuclearRsPathway - Nuclear Receptors in Lipid Metabolism and Toxicity
Reactome (by CSHL, EBI, and GO)
Protein Q96RI1 (Reactome details) participates in the following event(s):
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
