Homo sapiens Gene: NR1H4
Summary
InnateDB Gene IDBG-52872.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NR1H4
Gene Name nuclear receptor subfamily 1, group H, member 4
Synonyms BAR; FXR; HRR-1; HRR1; RIP14;
Species Homo sapiens
Ensembl Gene ENSG00000012504
Encoded Proteins
nuclear receptor subfamily 1, group H, member 4
nuclear receptor subfamily 1, group H, member 4
nuclear receptor subfamily 1, group H, member 4
nuclear receptor subfamily 1, group H, member 4
nuclear receptor subfamily 1, group H, member 4
nuclear receptor subfamily 1, group H, member 4
nuclear receptor subfamily 1, group H, member 4
nuclear receptor subfamily 1, group H, member 4
nuclear receptor subfamily 1, group H, member 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
NR1H4 is an essential component of a network of nuclear receptors that regulate intestinal innate immunity and homeostasis.
InnateDB Annotation from Orthologs
Summary
[Mus musculus] The bile acid sensor Nr1h4 (FXR) Is required for immune-regulatory activities of TLR9 in intestinal inflammation.
Entrez Gene
Summary This gene encodes a ligand-activated transcription factor, which shares structural features in common with nuclear hormone receptor family, such as a DNA-binding domain that targets the receptor to specific DNA sequences, and a ligand-binding domain, which interacts directly with the ligand and contains a ligand-dependent transcriptional activation domain. This protein functions as a receptor for bile acids, and when bound to bile acids, regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:100473708-100564413
Strand Forward strand
Band q23.1
Transcripts
ENST00000321046 ENSP00000315442
ENST00000188403 ENSP00000188403
ENST00000392986 ENSP00000376712
ENST00000548884 ENSP00000448506
ENST00000549996 ENSP00000448978
ENST00000546380 ENSP00000446760
ENST00000548621 ENSP00000446584
ENST00000551379 ENSP00000447149
ENST00000551184 ENSP00000446861
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 35 [view]
Protein-Protein 33 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001190 RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003690 double-stranded DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0003707 steroid hormone receptor activity
GO:0003713 transcription coactivator activity
GO:0003714 transcription corepressor activity
GO:0004872 receptor activity
GO:0004879 ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
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:0042277 peptide binding
GO:0043565 sequence-specific DNA 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:0006109 regulation of carbohydrate metabolic 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:0007165 signal transduction
GO:0008206 bile acid metabolic process
GO:0009749 response to glucose
GO:0010467 gene expression
GO:0030522 intracellular receptor signaling pathway
GO:0032496 response to lipopolysaccharide
GO:0034255 regulation of urea metabolic process
GO:0038185 intracellular bile acid receptor signaling pathway
GO:0043401 steroid hormone mediated signaling pathway
GO:0045087 innate immune response (InnateDB)
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048565 digestive tract development
GO:0070857 regulation of bile acid biosynthetic process
GO:0070858 negative regulation of bile acid biosynthetic process
GO:0071229 cellular response to acid
GO:0071417 cellular response to organonitrogen compound
GO:0090181 regulation of cholesterol metabolic process
GO:2000213 positive regulation of glutamate metabolic process
GO:2001250 positive regulation of ammonia assimilation cycle
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005719 nuclear euchromatin
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Metabolism of lipids and lipoproteins pathway
Synthesis of bile acids and bile salts via 27-hydroxycholesterol pathway
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol pathway
Bile acid and bile salt metabolism pathway
Recycling of bile acids and salts pathway
PPARA activates gene expression pathway
Cytochrome P450 - arranged by substrate type pathway
Orphan transporters pathway
Endogenous sterols pathway
Synthesis of bile acids and bile salts pathway
Fatty acid, triacylglycerol, and ketone body metabolism pathway
Metabolism pathway
Biological oxidations pathway
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) pathway
Phase 1 - Functionalization of compounds pathway
KEGG
Bile secretion pathway
INOH
PID BIOCARTA
PID NCI
RXR and RAR heterodimerization with other nuclear receptor
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 9971
UniGene Hs.733865 Hs.734504
RefSeq NM_001206977 NM_001206978 NM_001206979 NM_001206992 NM_001206993 NM_005123 XM_006719719
HUGO HGNC:7967
OMIM 603826
CCDS CCDS55873 CCDS55874 CCDS55875 CCDS55876 CCDS9078
HPRD 04827
IMGT
EMBL
GenPept
RNA Seq Atlas 9971