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Gene: NR1H4 (nuclear receptor subfamily 1 group H member 4) Homo sapiens
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Symbol: NR1H4
Name: nuclear receptor subfamily 1 group H member 4
Description: Exhibits several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; bile acid receptor activity; and chenodeoxycholic acid binding activity. Involved in several processes, including cellular response to lipid; positive regulation of cellular biosynthetic process; and regulation of protein secretion. Localizes to nuclear euchromatin and receptor complex. Implicated in extrahepatic cholestasis; hepatocellular carcinoma; and progressive familial intrahepatic cholestasis 5. Biomarker of hepatocellular carcinoma; non-alcoholic steatohepatitis; and primary biliary cirrhosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BAR; bile acid receptor; farnesoid X nuclear receptor; farnesoid X receptor; farnesoid X-activated receptor; farnesol receptor HRR-1; FXR; HRR-1; HRR1; MGC163445; nuclear receptor subfamily 1, group H, member 4; PFIC5; retinoid X receptor-interacting protein 14; RIP14; RXR-interacting protein 14
Orthologs:
Mus musculus (house mouse) : Nr1h4 (nuclear receptor subfamily 1, group H, member 4)  MGI  Alliance
Rattus norvegicus (Norway rat) : Nr1h4 (nuclear receptor subfamily 1, group H, member 4)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Nr1h4 (nuclear receptor subfamily 1 group H member 4)
Pan paniscus (bonobo/pygmy chimpanzee) : NR1H4 (nuclear receptor subfamily 1 group H member 4)
Canis lupus familiaris (dog) : NR1H4 (nuclear receptor subfamily 1 group H member 4)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Nr1h4 (nuclear receptor subfamily 1 group H member 4)
Sus scrofa (pig) : NR1H4 (nuclear receptor subfamily 1 group H member 4)
Chlorocebus sabaeus (African green monkey) : NR1H4 (nuclear receptor subfamily 1 group H member 4)
Heterocephalus glaber (naked mole-rat) : Nr1h4 (nuclear receptor subfamily 1 group H member 4)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12100,473,708 - 100,564,414 (+)EnsemblGRCh38hg38GRCh38
GRCh3812100,473,866 - 100,564,414 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712100,867,486 - 100,957,645 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361299,391,810 - 99,481,774 (+)NCBINCBI36hg18NCBI36
Build 341299,370,146 - 99,460,111NCBI
Celera12100,532,992 - 100,622,995 (+)NCBI
Cytogenetic Map12q23.1NCBI
HuRef1297,928,334 - 98,018,410 (+)NCBIHuRef
CHM1_112100,833,597 - 100,923,679 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on NR1H4
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 734103
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.