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Aliases for NR1H4 Gene

Aliases for NR1H4 Gene

  • Nuclear Receptor Subfamily 1, Group H, Member 4 2 3
  • 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
  • RIP14 3 4
  • HRR1 3 4
  • BAR 3 4
  • FXR 3 4
  • Nuclear Receptor Subfamily 1 Group H Member 4 4
  • Farnesoid X Nuclear Receptor 3
  • Farnesoid X Receptor 2
  • HRR-1 3

External Ids for NR1H4 Gene

Previous GeneCards Identifiers for NR1H4 Gene

  • GC12P100078
  • GC12P100850
  • GC12P099370
  • GC12P097928
  • GC12P100867

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 intrahepatic cholestasis and atp8b1 deficiency. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and receptor 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; alpha and beta.

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

Regulatory Elements for NR1H4 Gene

Genomic Location for NR1H4 Gene

Chromosome:
12
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

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

Antibody Products

No data available for DME Specific Peptides for NR1H4 Gene

Domains & Families for NR1H4 Gene

Gene Families for NR1H4 Gene

Graphical View of Domain Structure for InterPro Entry

Q96RI1

UniProtKB/Swiss-Prot:

NR1H4_HUMAN :
  • Contains 1 nuclear receptor DNA-binding domain.
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
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:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA 21757002
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 24211198
GO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding IDA 21757002
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 9223286
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA 21757002
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:

Animal Model Products

CRISPR Products

miRNA for NR1H4 Gene

miRTarBase miRNAs that target NR1H4
Targeted 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) and Transcription Factor Targets 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
extracellular 2
peroxisome 2
plasma membrane 2
cytosol 1
endoplasmic reticulum 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 & Interactions for NR1H4 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for NR1H4 Gene

Is activated by:

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:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter --
genes like me logo Genes that share ontologies with NR1H4: view

Drugs & Compounds for NR1H4 Gene

(27) Drugs for NR1H4 Gene - From: NovoSeek, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
chenodeoxycholic acid Approved Pharma Antagonist, Target, other 23
deoxycholic acid Approved Pharma Antagonist 40
cholic acid Approved Pharma Full agonist, Agonist 0
Dexamethasone Approved, Investigational Pharma Agonist 1806
Progesterone Approved Pharma Inhibition, Pore Blocker Endogenous progesterone receptor agonist 473

(24) Additional Compounds for NR1H4 Gene - From: NovoSeek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ECDCA
Agonist
GW 3965 hydrochloride
405911-17-3
6-Ethylchenodeoxycholic acid
androstane
Apomine
genes like me logo Genes that share compounds with NR1H4: view

Drug Products

Transcripts for NR1H4 Gene

Unigene Clusters for NR1H4 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NR1H4

Flow Cytometry Products

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 (x25.2), Adrenal Gland (x7.1), Small Intestine - Terminal Ileum (x6.8), and Kidney - Cortex (x5.5).

Protein differential expression in normal tissues from HIPED for NR1H4 Gene

This gene is overexpressed in Bone marrow stromal cell (67.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NR1H4: view

Protein tissue co-expression partners for NR1H4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NR1H4 Gene

Orthologs for NR1H4 Gene

This gene was present in the common ancestor of animals.

Orthologs for NR1H4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NR1H4 35
  • 91.36 (n)
  • 93.57 (a)
NR1H4 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR1H4 35
  • 91.04 (n)
  • 94.67 (a)
NR1H4 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr1h4 35
  • 86.21 (n)
  • 92.8 (a)
Nr1h4 16
Nr1h4 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NR1H4 35
  • 99.59 (n)
  • 99.79 (a)
NR1H4 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nr1h4 35
  • 85.8 (n)
  • 93.5 (a)
oppossum
(Monodelphis domestica)
Mammalia NR1H4 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR1H4 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves NR1H4 35
  • 77.9 (n)
  • 82.47 (a)
FXR 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NR1H4 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nr1h4 35
  • 70.34 (n)
  • 70.42 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68693 35
zebrafish
(Danio rerio)
Actinopterygii nr1h4 35
  • 65.94 (n)
  • 67.03 (a)
nr1h4 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta EcR 37
  • 36 (a)
EcR 36
  • 18 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8564 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

Variation tolerance for NR1H4 Gene

Residual Variation Intolerance Score: 58.08% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NR1H4 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR1H4 Gene

Disorders for NR1H4 Gene

MalaCards: The human disease database

(22) MalaCards diseases for NR1H4 Gene - From: Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
intrahepatic cholestasis
  • intrahepatic cholestasis of pregnancy
atp8b1 deficiency
  • fic1 deficiency
vertebral artery insufficiency
  • vertebral artery syndrome
enterocele
  • vaginal enterocele, congenital
functional diarrhea
- elite association
Search NR1H4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NR1H4

Genetic Association Database (GAD)
NR1H4
Human Genome Epidemiology (HuGE) Navigator
NR1H4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NR1H4
genes like me logo Genes that share disorders with NR1H4: view

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

Publications for NR1H4 Gene

  1. Identification of a nuclear receptor for bile acids. (PMID: 10334992) Makishima M. … Shan B. (Science 1999) 23 25 67
  2. Targetting farnesoid-X-receptor: from medicinal chemistry to disease treatment. (PMID: 19941473) Fiorucci S. … Cipriani S. (Curr. Med. Chem. 2010) 23 67
  3. Farnesoid X receptor alleviates age-related proliferation defects in regenerating mouse livers by activating forkhead box m1b transcription. (PMID: 19998409) Chen W.D. … Huang W. (Hepatology 2010) 23 67
  4. Regulation of the human bile acid UDP-glucuronosyltransferase 1A3 by the farnesoid X receptor and bile acids. (PMID: 20189675) Erichsen T.J. … Strassburg C.P. (J. Hepatol. 2010) 23 67
  5. Molecular pathways and agents for lowering LDL-cholesterol in addition to statins. (PMID: 20227438) Costet P. (Pharmacol. Ther. 2010) 23 67

Products for NR1H4 Gene

Sources for NR1H4 Gene

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