Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NR1H4 Gene

Aliases for NR1H4 Gene

  • Nuclear Receptor Subfamily 1, Group H, Member 4 2 3
  • RIP14 3 4 6
  • FXR 3 4 6
  • Retinoid X Receptor-Interacting Protein 14 3 4
  • Farnesoid X-Activated Receptor 3 4
  • RXR-Interacting Protein 14 3 4
  • Farnesol Receptor HRR-1 3 4
  • HRR1 3 4
  • BAR 3 4
  • Nuclear Receptor Subfamily 1 Group H Member 4 4
  • Farnesoid X Nuclear Receptor 3
  • Farnesoid X Receptor 2
  • Bile Acid Receptor 3
  • HRR-1 3

External Ids for NR1H4 Gene

Summaries for NR1H4 Gene

Entrez Gene Summary for NR1H4 Gene

  • 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]

GeneCards Summary for NR1H4 Gene

NR1H4 (Nuclear Receptor Subfamily 1, Group H, Member 4) is a Protein Coding gene. Diseases associated with NR1H4 include atp8b1 deficiency and xanthomatosis. Among its related pathways are Gene Expression and Gene Expression. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription coactivator activity. An important paralog of this gene is NR1I2.

UniProtKB/Swiss-Prot for NR1H4 Gene

  • 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.

Tocris Summary for NR1H4 Gene

  • Liver X receptors (LXRs) and farnesoid X receptors (FXRs) are members of the steroid analog-activated nuclear receptor subfamily, which form heterodimers with members of the retinoid X receptor family. There are two closely related isoforms of each of these enzymes; LXRalpha and LXRbeta, and FXRalpha and FXRbeta (pseudogene in man). LXRalpha and FXRalpha expression is restricted to the liver, small intestine, kidney and adrenal gland, whilst LXRbeta and FXRbeta are ubiquitously expressed. Despite acting on some of the same target genes, including cholesterol 7alpha-hydroxylase (CYP7A1) and SREBP-1c, LXRs and FXRs have different physiological roles. LXRs are involved in cholesterol homeostasis, inhibition of proinflammatory gene expression in atherosclerosis and activation of innate immunity, whilst FXRs have a vital function in bile acid homeostasis.

Gene Wiki entry for NR1H4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NR1H4 Gene

Genomics for NR1H4 Gene

Genomic Location for NR1H4 Gene

Start:
100,473,708 bp from pter
End:
100,564,413 bp from pter
Size:
90,706 bases
Orientation:
Plus strand

Genomic View for NR1H4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NR1H4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR1H4 Gene

Regulatory Elements for NR1H4 Gene

Proteins for NR1H4 Gene

  • Protein details for NR1H4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RI1-NR1H4_HUMAN
    Recommended name:
    Bile acid receptor
    Protein Accession:
    Q96RI1
    Secondary Accessions:
    • A1L4K5
    • B7Z412
    • B7ZM06
    • F8VYG8
    • Q8NFP5
    • Q8NFP6
    • Q92943

    Protein attributes for NR1H4 Gene

    Size:
    486 amino acids
    Molecular mass:
    55914 Da
    Quaternary structure:
    • Heterodimer of NR1H4 and RXR. After activation by agonist binding, interacts with a coactivator, NCOA1 or NCOA2 (By similarity). Interacts with CARM1 and SMARD1.
    SequenceCaution:
    • Sequence=BC144183; Type=Frameshift; Positions=156; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NR1H4 Gene

    Alternative splice isoforms for NR1H4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR1H4 Gene

Proteomics data for NR1H4 Gene at MOPED

Post-translational modifications for NR1H4 Gene

No data available for DME Specific Peptides for NR1H4 Gene

Domains for NR1H4 Gene

Gene Families for NR1H4 Gene

HGNC:
  • NR :Nuclear hormone receptors
IUPHAR :

UniProtKB/Swiss-Prot:

NR1H4_HUMAN
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.:
    • Q96RI1
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.:
    • Q96RI1
genes like me logo Genes that share domains with NR1H4: view

Function for NR1H4 Gene

Molecular function for NR1H4 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for NR1H4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA 21757002
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0001190 RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription IDA 21757002
GO:0003677 DNA binding --
genes like me logo Genes that share ontologies with NR1H4: view
genes like me logo Genes that share phenotypes with NR1H4: view

Animal Models for NR1H4 Gene

MGI Knock Outs for NR1H4:
Targeting motifs for NR1H4 Gene
HOMER Transcription Factor Regulatory Elements motif NR1H4
  • Consensus sequence: AGGTCANTGACCTN Submotif: IR1 Cell Type: Liver

No data available for Enzyme Numbers (IUBMB) , miRNA and Transcription Factor Targeting for NR1H4 Gene

Localization for NR1H4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR1H4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NR1H4 Gene COMPARTMENTS Subcellular localization image for NR1H4 gene
Compartment Confidence
nucleus 4
peroxisome 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NR1H4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005719 nuclear euchromatin IDA 21757002
genes like me logo Genes that share ontologies with NR1H4: view

Pathways for NR1H4 Gene

genes like me logo Genes that share pathways with NR1H4: view

Gene Ontology (GO) - Biological Process for NR1H4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS 21757002
GO:0001080 nitrogen catabolite activation of transcription from RNA polymerase II promoter IC 21757002
GO:0006109 regulation of carbohydrate metabolic process IEA --
GO:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated --
genes like me logo Genes that share ontologies with NR1H4: view

Compounds for NR1H4 Gene

(4) Tocris Compounds for NR1H4 Gene

Compound Action Cas Number
Fexaramine Potent, selective farnesoid X receptor (FXR) agonist [574013-66-4]
GW 3965 hydrochloride Orally active liver X receptor (LXR) agonist [405911-09-3]
GW 4064 Selective farnesoid X receptor (FXR) agonist [278779-30-9]
T 0901317 Potent liver X receptor (LXR) agonist; also CAR inverse agonist [293754-55-9]

(2) HMDB Compounds for NR1H4 Gene

Compound Synonyms Cas Number PubMed IDs
Deoxycholic acid
  • 5b-Cholanic acid-3a,12a-diol
83-44-3
Lithocholic acid
  • (3a,5b)-3-hydroxy-cholan-24-oate
434-13-9

(3) Drugbank Compounds for NR1H4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
(8alpha,10alpha,13alpha,17beta)-17-[(4-hydroxyphenyl)carbonyl]androsta-3,5-diene-3-carboxylic acid
target
Chenodeoxycholic acid
  • Chenocholic acid
474-25-9 target other
Fexaramine
574013-66-4 target

(5) IUPHAR Ligand for NR1H4 Gene

Ligand Type Action Affinity Pubmed IDs
GW4064 Agonist Agonist 7.82
ECDCA Agonist Agonist 7
fexaramine Agonist Agonist 6.6
guggulsterone Antagonist Antagonist 6
22R-hydroxycholesterol Agonist Agonist 5.52

(43) Novoseek inferred chemical compound relationships for NR1H4 Gene

Compound -log(P) Hits PubMed IDs
gw 4064 97.3 38
chenodeoxycholic acid 94 63
guggulsterone 92.3 27
6-ethylchenodeoxycholic acid 89.6 5
androstane 88.6 25
genes like me logo Genes that share compounds with NR1H4: view

Transcripts for NR1H4 Gene

Unigene Clusters for NR1H4 Gene

Nuclear receptor subfamily 1, group H, member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NR1H4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - - -
SP2: - -
SP3: - -
SP4: -
SP5:
SP6: - - -
SP7: -

Relevant External Links for NR1H4 Gene

GeneLoc Exon Structure for
NR1H4
ECgene alternative splicing isoforms for
NR1H4

Expression for NR1H4 Gene

mRNA expression in normal human tissues for NR1H4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NR1H4 Gene

This gene is overexpressed in Liver (25.2), Adrenal Gland (7.1), Small Intestine - Terminal Ileum (6.8), and Kidney - Cortex (5.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NR1H4 Gene

SOURCE GeneReport for Unigene cluster for NR1H4 Gene Hs.282735

genes like me logo Genes that share expressions with NR1H4: view

Orthologs for NR1H4 Gene

This gene was present in the common ancestor of animals.

Orthologs for NR1H4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NR1H4 36
  • 99.59 (n)
  • 99.79 (a)
NR1H4 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NR1H4 36
  • 91.36 (n)
  • 93.57 (a)
NR1H4 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR1H4 36
  • 91.04 (n)
  • 94.67 (a)
NR1H4 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr1h4 36
  • 86.21 (n)
  • 92.8 (a)
Nr1h4 16
Nr1h4 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NR1H4 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR1H4 37
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nr1h4 36
  • 85.8 (n)
  • 93.5 (a)
chicken
(Gallus gallus)
Aves FXR 37
  • 78 (a)
OneToOne
NR1H4 36
  • 77.9 (n)
  • 82.47 (a)
lizard
(Anolis carolinensis)
Reptilia NR1H4 37
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68693 36
tropical clawed frog
(Silurana tropicalis)
Amphibia nr1h4 36
  • 70.34 (n)
  • 70.42 (a)
zebrafish
(Danio rerio)
Actinopterygii nr1h4 36
  • 65.94 (n)
  • 67.03 (a)
nr1h4 37
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta EcR 37
  • 18 (a)
OneToMany
EcR 38
  • 36 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8564 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 38 (a)
OneToOne
Species with no ortholog for NR1H4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NR1H4 Gene

ENSEMBL:
Gene Tree for NR1H4 (if available)
TreeFam:
Gene Tree for NR1H4 (if available)

Paralogs for NR1H4 Gene

Pseudogenes.org Pseudogenes for NR1H4 Gene

genes like me logo Genes that share paralogs with NR1H4: view

Variants for NR1H4 Gene

Sequence variations from dbSNP and Humsavar for NR1H4 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs35724 -- 100,561,600(-) CTCTT(C/G)AATTG intron-variant
rs35725 -- 100,561,343(-) tcggc(C/T)tacag intron-variant
rs35726 -- 100,560,633(-) cggtg(G/T)tacag intron-variant
rs35727 -- 100,560,227(-) ctgat(G/T)ggtag intron-variant
rs35728 -- 100,559,789(-) agctg(C/T)ctgcc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NR1H4 Gene

Variant ID Type Subtype PubMed ID
nsv455700 CNV Loss 19166990
dgv1484n71 CNV Gain 21882294
nsv899470 CNV Gain 21882294
esv2673448 CNV Deletion 23128226
nsv442285 CNV CNV 18776908

Relevant External Links for NR1H4 Gene

HapMap Linkage Disequilibrium report
NR1H4
Human Gene Mutation Database (HGMD)
NR1H4

Disorders for NR1H4 Gene

(4) University of Copenhagen DISEASES for NR1H4 Gene

(28) Novoseek inferred disease relationships for NR1H4 Gene

Disease -log(P) Hits PubMed IDs
byler disease 80.9 8
cholestasis 76.7 16
cholestasis intrahepatic 73.5 9
dyslipidemia 54.8 5
liver diseases 50.4 6

Relevant External Links for NR1H4

Genetic Association Database (GAD)
NR1H4
Human Genome Epidemiology (HuGE) Navigator
NR1H4
genes like me logo Genes that share disorders with NR1H4: view

No data available for UniProtKB/Swiss-Prot for NR1H4 Gene

Publications for NR1H4 Gene

  1. Identification of a nuclear receptor for bile acids. (PMID: 10334992) Makishima M. … Shan B. (Science 1999) 3 4 23 25
  2. Bile acids: natural ligands for an orphan nuclear receptor. (PMID: 10334993) Parks D.J. … Lehmann J.M. (Science 1999) 3 4 23
  3. Definition of a novel growth factor-dependent signal cascade for the suppression of bile acid biosynthesis. (PMID: 12815072) Holt J.A. … Jones S.A. (Genes Dev. 2003) 3 4 23
  4. Ligand-dependent activation of the farnesoid X-receptor directs arginine methylation of histone H3 by CARM1. (PMID: 15471871) Ananthanarayanan M. … Walsh M.J. (J. Biol. Chem. 2004) 3 4 23
  5. Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy. (PMID: 17681172) Van Mil S.W. … Williamson C. (Gastroenterology 2007) 3 23 49

Products for NR1H4 Gene

Sources for NR1H4 Gene

Back to Top

Content