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Nr1h4
Gene Detail
Symbol

Name
ID
Nr1h4
nuclear receptor subfamily 1, group H, member 4
MGI:1352464
Synonyms
Fxr, FXR, HRR1, RIP14, Rxrip14
Feature Type
protein coding gene
Genetic Map
Chromosome 10
44.98 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr10:89454234-89533585 bp, - strand
From VEGA annotation of GRCm38

  79352 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3760  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: NR1H4
Gene Tree: Nr1h4

Human
homologs
NR1H4, nuclear receptor subfamily 1, group H, member 4
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 9971
neXtProt AC: NX_Q96RI1

Human Synonyms: BAR, FXR, HRR1, HRR-1, RIP14

Human Chr (Location): 12q23.1; chr12:100473759-100563867 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Targeted(10)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for knock-out alleles exhibit increased bile salts and abnormal liver morphology and physiology. Mice homozygous for one knock-out allele also exhibit abnormal lipid homeostasis.
 
Human Diseases Modeled in Mice Using Nr1h4 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(2)
Interactions
Nr1h4 interacts with 75 markers (Mir10b, Mir18, Mir101a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (51 annotations)
Process bile acid metabolic process, bile acid signaling pathway, ...
Component nuclear euchromatin, nucleus
Function bile acid binding, bile acid receptor activity, ...
External Resources: FuncBase
Expression
Literature Summary: (14 records)
Data Summary: Results (319)    Tissues (213)    Images (6)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 319
cDNA source data(37)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN nr1h4    NEW 
Molecular
reagents
All nucleic(39) cDNA(38) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000022710 (Evidence)
Ensembl Gene Model ENSMUSG00000047638 (Evidence)
Entrez Gene 20186 (Evidence)
UniGene 3095
DFCI TC1608395, TC1582434, TC1659806, TC1656845
DoTS DT.91338634, DT.490919, DT.94201152
NIA Mouse Gene Index U032117
Consensus CDS Project CCDS24116.1, CCDS48668.1, CCDS48669.1
International Mouse Phenotyping Consortium Status Nr1h4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022710 VEGA Gene Model | MGI Sequence Detail 79352 C57BL/6J ±  kb
transcript OTTMUST00000054480 VEGA | MGI Sequence Detail 1964 Not Applicable 
polypeptide OTTMUSP00000026009 VEGA | MGI Sequence Detail 484 Not Applicable 

For the selected sequences
All sequences(41) RefSeq(10) UniProt(3)
Polymorphisms
RFLP(2) : SNPs within 2kb(507 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008946 Nuclear hormone receptor, ligand-binding
InterPro IPR000536 Nuclear hormone receptor, ligand-binding, core
InterPro IPR001723 Steroid hormone receptor
InterPro IPR001728 Thyroid hormone receptor
InterPro IPR013088 Zinc finger, NHR/GATA-type
InterPro IPR001628 Zinc finger, nuclear hormone receptor-type
Protein Ontology PR:000011396 bile acid receptor
References
(Earliest) J:23077 Seol W, et al., Isolation of proteins that interact specifically with the retinoid X receptor: two novel orphan receptors. Mol Endocrinol. 1995 Jan;9(1):72-85
(Latest) J:219776 de Aguiar Vallim TQ, et al., MAFG is a transcriptional repressor of bile acid synthesis and metabolism. Cell Metab. 2015 Feb 3;21(2):298-310
All references(175)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-24051, MGD-MRK-33613, MGI:103183, MGI:105934, MGI:2143705

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory