NR1H4 Gene Summary [Human]
This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
Details
| Type | Protein Coding |
| Official Symbol | NR1H4 |
| Official Name | nuclear receptor subfamily 1 group H member 4 [Source:HGNC Symbol;Acc:HGNC:7967] |
| Ensembl ID | ENSG00000012504 |
| Bio databases IDs | |
| Aliases | nuclear receptor subfamily 1 group H member 4, farnesoid X receptor, bile acid receptor |
| Synonyms | BAR, Farnesol Receptor, FXR, FXR alpha, FXR α, HRR-1, nuclear receptor subfamily 1 group H member 4, nuclear receptor subfamily 1, group H, member 4, PFIC5, RIP14, Rxrip14 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NR1H4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- peptide binding
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- transcription factor binding
- AF-2 transcription activation domain
- nuclear receptor ligand binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- ligand-binding domain
- ligand-dependent nuclear receptor
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- ligand-dependent nuclear receptor interactor
- dimerization domain
- DNA binding domain
- nucleic acid binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- steroid binding
- binding protein
- double-stranded DNA binding
- hinge domain
- heterodimerization domain
- retinoid X receptor binding
- zinc finger domain
- Ligand-binding domain of nuclear hormone receptor
- transcription factor activity
Pathways
Biological processes and signaling networks where the NR1H4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- atopic dermatitis
- Crohn disease
- cancer
- neoplasia
- glomerulosclerosis
- tubulo-interstitial fibrosis
- impaired glucose tolerance
- insulin resistance
- nonalcoholic steatohepatitis
role in cell
- cell death
- necrosis
- proliferation
- apoptosis
- growth
- number
- expression in
- migration
- invasion by
- activation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- perinuclear region
- cytosol
- nucleoplasm
- nuclear speckles
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NR1H4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of ammonia assimilation cycle
- regulation of insulin secretion involved in cellular response to glucose stimulus
- negative regulation of interleukin-1 production
- regulation of urea metabolic process
- transcription from RNA polymerase II promoter
- negative regulation of I-kappaB kinase/NF-kappaB cascade
- positive regulation of transcription from RNA polymerase II promoter
- bile acid metabolic process
- cholesterol homeostasis
- negative regulation of transcription from RNA polymerase II promoter
- inflammatory response
- negative regulation of interleukin-2 production
- cellular response to fatty acid
- positive regulation of transcription, DNA-dependent
- positive regulation of interleukin-17 production
- cellular response to organic nitrogen
- negative regulation of interferon-gamma production
- cellular triglyceride homeostasis
- positive regulation of insulin secretion involved in cellular response to glucose stimulus
- negative regulation of monocyte chemotactic protein-1 production
- negative regulation of tumor necrosis factor production
- positive regulation of glutamate metabolic process
- intracellular receptor mediated signaling pathway
- toll-like receptor 9 signaling pathway
- positive regulation of insulin receptor signaling pathway
- cell-cell junction assembly
- negative regulation of inflammatory response
- fatty acid homeostasis
- defense response to bacterium
- regulation of cholesterol metabolic process
- regulation of transcription from RNA polymerase II promoter
- negative regulation of interleukin-6 production
- Notch signaling pathway
- cellular response to lipopolysaccharide
- cellular glucose homeostasis
- regulation of low-density lipoprotein particle clearance
- negative regulation of apoptotic process
- negative regulation of very-low-density lipoprotein particle remodeling
- negative regulation of tumor necrosis factor-mediated signaling pathway
- innate immune response
- cell differentiation
- nitrogen catabolite activation of transcription from RNA polymerase II promoter
- regulation of bile acid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- euchromatin
- receptor complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ligand-dependent nuclear receptor binding
- zinc ion binding
- bile acid binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- retinoid X receptor binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- transcription cofactor binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity