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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
  • Candidate for QTL
    4 QTL
Location &
Maps
more
  • Sequence Map
    Chr10:89290096-89369447 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 44.98 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2343 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1352464
 protein coding gene Chr10:89290096-89369484 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017636
 protein coding gene Chr10:90621149-90710067 (-)
A/J MGP_AJ_G0017615
 protein coding gene Chr10:87524255-87603383 (-)
AKR/J MGP_AKRJ_G0017573
 protein coding gene Chr10:90018550-90099786 (-)
BALB/cJ MGP_BALBcJ_G0017578
 protein coding gene Chr10:87795866-87876217 (-)
C3H/HeJ MGP_C3HHeJ_G0017401
 protein coding gene Chr10:90027785-90113006 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018035
 protein coding gene Chr10:93660692-93744969 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015717
 protein coding gene Chr10:83247983-83332639 (-)
CAST/EiJ MGP_CASTEiJ_G0016966
 protein coding gene Chr10:89940494-90023787 (-)
CBA/J MGP_CBAJ_G0017370
 protein coding gene Chr10:97526769-97610129 (-)
DBA/2J MGP_DBA2J_G0017476
 protein coding gene Chr10:86661278-86741623 (-)
FVB/NJ MGP_FVBNJ_G0017468
 protein coding gene Chr10:85862231-85943925 (-)
LP/J MGP_LPJ_G0017550
 protein coding gene Chr10:91273256-91358138 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017499
 protein coding gene Chr10:99007384-99090182 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018072
 protein coding gene Chr10:89889455-89972793 (-)
PWK/PhJ MGP_PWKPhJ_G0016747
 protein coding gene Chr10:86684745-86764310 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016535
 protein coding gene Chr10:88668784-88748651 (-)
WSB/EiJ MGP_WSBEiJ_G0017025
 protein coding gene Chr10:89896210-89982359 (-)



Homology
more
  • Human Ortholog
    NR1H4, nuclear receptor subfamily 1 group H member 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NR1H4, nuclear receptor subfamily 1 group H member 4
  • Synonyms
    BAR, FXR, HRR-1, HRR1, PFIC5, RIP14
  • Links
    NCBI Gene ID: 9971
    neXtProt AC: NX_Q96RI1
    UniProt: Q96RI1

  • Chr Location
    12q23.1; chr12:100473708-100564414 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Nr1h4 mouse models; 3 with human NR1H4 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
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
    231 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    124
  • GO References
    24
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1052
  • Tissues
    234
  • cDNA Data
    39
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000047638 Ensembl Gene Model | MGI Sequence Detail 79352 C57BL/6J ±  kb
    transcript ENSMUST00000105296 Ensembl | MGI Sequence Detail 1985 Not Applicable  
    polypeptide ENSMUSP00000100933 Ensembl | MGI Sequence Detail 488 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000011396 bile acid receptor
      (term hierarchy)
    • InterPro Domains
      IPR044114 Bile acid receptor, ligand binding domain
      IPR001723 Nuclear hormone receptor
      IPR050234 Nuclear hormone receptor family NR1 subfamily
      IPR000536 Nuclear hormone receptor, ligand-binding domain
      IPR035500 Nuclear hormone receptor-like domain superfamily
      IPR001728 Thyroid hormone receptor
      IPR013088 Zinc finger, NHR/GATA-type
      IPR001628 Zinc finger, nuclear hormone receptor-type
    • GlyGen
      Q60641 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 45
      cDNA 40
      Primer pair 3
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-24051, MGD-MRK-33613, MGI:103183, MGI:105934, MGI:2143705
    References
    more
    • Summaries
      All 345
      Developmental Gene Expression 19
      Diseases 3
      Gene Ontology 24
      Phenotypes 231
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:350284 Liu Y, et al., Generation and characterization of mature hepatocyte organoids for liver metabolic studies. J Cell Sci. 2024 May 15;137(10)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory