NR1H3 Gene Summary [Human]
The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Details
| Type | Processed Transcript |
| Official Symbol | NR1H3 |
| Official Name | nuclear receptor subfamily 1 group H member 3 [Source:HGNC Symbol;Acc:HGNC:7966] |
| Ensembl ID | ENSG00000025434 |
| Bio databases IDs | |
| Aliases | nuclear receptor subfamily 1 group H member 3, liver X receptor-alpha |
| Synonyms | CHOP, LXR, LXR-a, LXRalpha, Lxr α, nuclear receptor subfamily 1 group H member 3, nuclear receptor subfamily 1, group H, member 3, RLD-1, Unr1 |
| 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 NR1H3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- cholesterol binding
- steroid hormone receptor
- DNA binding domain
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- nucleic acid binding
- alpha helix
- AF-2 transcription activation domain
- chromatin binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- nuclear receptor ligand binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- binding protein
- AF-1 domain
- ligand-binding domain
- double-stranded DNA binding
- ligand-dependent nuclear receptor
- retinoid X receptor binding
- Ligand-binding domain of nuclear hormone receptor
- transcription factor activity
Pathways
Biological processes and signaling networks where the NR1H3 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
- weight gain
- plasma cell myeloma
- cancer
- non-small cell lung cancer
- epithelial cancer
- epithelial neoplasia
- nutritionally induced type 2 diabetes
- organismal death
- familial multiple sclerosis
- androgenic alopecia
role in cell
- phosphorylation in
- proliferation
- size
- quantity
- apoptosis
- expression in
- activation in
- accumulation in
- migration
- recruitment 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
- cytosol
- nucleoplasm
- nucleoli
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NR1H3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phosphatidylcholine acyl-chain remodeling
- response to progesterone stimulus
- negative regulation of proteolysis
- positive regulation of transcription from RNA polymerase II promoter
- regulation of circadian rhythm
- cholesterol homeostasis
- sterol homeostasis
- positive regulation of fatty acid biosynthetic process
- hormone-mediated signaling pathway
- negative regulation of transcription from RNA polymerase II promoter
- positive regulation of protein metabolic process
- negative regulation of macrophage activation
- positive regulation of transcription, DNA-dependent
- positive regulation of cholesterol efflux
- triglyceride homeostasis
- positive regulation of lipoprotein lipase activity
- intracellular receptor mediated signaling pathway
- negative regulation of lipid transport
- mRNA transcription from RNA polymerase II promoter
- positive regulation of toll-like receptor 4 signaling pathway
- negative regulation of inflammatory response
- negative regulation of pancreatic juice secretion
- lipid homeostasis
- apoptotic cell clearance
- negative regulation of secretion of lysosomal enzymes
- negative regulation of interferon-gamma-mediated signaling pathway
- positive regulation of lipid biosynthetic process
- negative regulation of pinocytosis
- cellular response to lipopolysaccharide
- positive regulation of triglyceride biosynthetic process
- cell differentiation
- positive regulation of transporter activity
- negative regulation of macrophage derived foam cell differentiation
- negative regulation of cholesterol storage
- positive regulation of cholesterol transport
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- receptor complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- chromatin DNA binding
- zinc ion binding
- protein binding
- cholesterol binding
- ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription 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
- sterol response element binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity