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Nr1h4 Gene Detail
Summary
  • Symbol
    Nr1h4
  • Name
    nuclear receptor subfamily 1, group H, member 4
  • Synonyms
    Fxr, FXR, HRR1, RIP14, Rxrip14
  • Feature Type
    protein coding gene
  • IDs
    MGI:1352464
    NCBI Gene: 20186
  • Gene Overview
    MyGene.info: NR1H4
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr10:89454234-89533585 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      79352 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 44.98 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    NR1H4, nuclear receptor subfamily 1 group H member 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NR1H4, nuclear receptor subfamily 1 group H member 4
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BAR, FXR, HRR1, HRR-1, PFIC5, RIP14
  • Links
    NCBI Gene ID: 9971
    neXtProt AC: NX_Q96RI1
    UniProt: Q96RI1

  • Chr Location
    12q23.1; chr12:100473773-100563867 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 3760
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: NR1H4
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Nr1h4 mouse models

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    56 phenotypes from 5 alleles in 9 genetic backgrounds
    2 images
    136 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      503 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 42
      cDNA 40
      Primer pair 1
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-24051, MGD-MRK-33613, MGI:103183, MGI:105934, MGI:2143705
    References
    more
    • Summaries
      All 226
      Developmental Gene Expression 17
      Diseases 3
      Gene Ontology 21
      Phenotypes 136
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:262945 Kim KH, et al., Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis. Endocrinology. 2018 Jun 1;159(6):2435-2446

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory