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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NR1H3
nuclear receptor subfamily 1 group H member 3
Chromosome 11 · 11p11.2
NCBI Gene: 10062Ensembl: ENSG00000025434.19HGNC: HGNC:7966UniProt: B4DXU5
340PubMed Papers
20Diseases
6Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTranscription Factor
RESEARCH IMPACT
Highly Studied
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of lipid transportpositive regulation of cholesterol transportresponse to progesteronepositive regulation of toll-like receptor 4 signaling pathwaykidney failureclear cell renal carcinomamultiple sclerosisglaucoma
✦AI Summary

NR1H3 encodes liver X receptor alpha (LXRα), a nuclear receptor that functions as a ligand-dependent transcriptional activator critical for lipid metabolism and immune regulation 1. The receptor heterodimerizes with retinoid X receptor (RXR) to regulate target genes through LXRE response elements, playing essential roles in cholesterol homeostasis by controlling cholesterol uptake and transport 1. NR1H3 exhibits tissue-specific expression patterns and regulates osteogenic differentiation through endoplasmic reticulum stress pathways, as demonstrated in calcific aortic valve disease where reduced NR1H3 expression exacerbates calcification 2. The receptor shows functional cross-talk with RORα in regulating metabolic genes, with mutual suppression affecting hepatic triglyceride accumulation 3. In immune contexts, NR1H3 is highly expressed in pro-inflammatory M1-like macrophages and serves as a prognostic biomarker in diffuse large B-cell lymphoma, where high expression correlates with improved survival 4. Disease associations include multiple sclerosis risk through genetic variants that regulate NR1H3 expression 5, vitiligo susceptibility 6, and tuberculosis pathogenesis where decreased expression affects cholesterol homeostasis critical for mycobacterial survival 7. Therapeutically, NR1H3 pathway activation shows protective effects in septic myocardial injury 8.

Sources cited
1
NR1H3 encodes LXRα, a ligand-dependent transcriptional activator that heterodimerizes with RXR and regulates cholesterol homeostasis
PMID: 27253448
2
NR1H3 regulates osteogenic differentiation through ER stress pathways and is downregulated in calcific aortic valve disease
PMID: 40088465
3
NR1H3 shows functional cross-talk with RORα in regulating metabolic genes and hepatic triglyceride accumulation
PMID: 18055760
4
NR1H3 is highly expressed in pro-inflammatory M1-like macrophages and serves as a prognostic biomarker in DLBCL
PMID: 35850118
5
Genetic variants in NR1H3 are associated with multiple sclerosis risk and regulate NR1H3 expression
PMID: 29801879
6
NR1H3 polymorphisms are associated with vitiligo susceptibility in Chinese Han population
PMID: 36854764
7
Decreased NR1H3 expression in tuberculosis patients affects cholesterol homeostasis critical for mycobacterial survival
PMID: 38740636
8
NR1H3 pathway activation shows protective effects against septic myocardial injury
PMID: 35640818
Disease Associationsⓘ20
kidney failureOpen Targets
0.39Weak
clear cell renal carcinomaOpen Targets
0.35Weak
multiple sclerosisOpen Targets
0.34Weak
glaucomaOpen Targets
0.34Weak
metabolic syndromeOpen Targets
0.30Weak
neuroinflammatory disorderOpen Targets
0.26Weak
hypertensionOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.24Weak
physical activityOpen Targets
0.23Weak
venous thromboembolismOpen Targets
0.20Weak
health study participationOpen Targets
0.15Weak
chronic kidney diseaseOpen Targets
0.13Weak
COVID-19Open Targets
0.12Weak
MenorrhagiaOpen Targets
0.11Weak
small intestine neoplasmOpen Targets
0.11Weak
atopic eczemaOpen Targets
0.10Weak
essential hypertensionOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
mathematical abilityOpen Targets
0.10Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
Pathogenic Variants1
NM_005693.4(NR1H3):c.1244G>A (p.Arg415Gln)Pathogenic
Multiple sclerosis
☆☆☆☆2015→ Residue 415
View on ClinVar ↗
Drug Targets6
ABEQUOLIXRONPhase I/II
Liver X receptor agonist
non-small cell lung carcinoma
BMS-852927Phase I
LXR-alpha modulator
arteriosclerosis
CS-8080Phase I
LXR-alpha agonist
arteriosclerosis
HYODEOXYCHOLIC_ACIDPhase I
LXR-beta agonist
Hypercholesterolemia
LXR-623Phase I
LXR-alpha agonist
arteriosclerosis
ROVAZOLACPhase II
Liver X receptor agonist
atopic eczema
Related Genes
NCOA2Protein interaction100%APOEProtein interaction97%CYP7A1Protein interaction94%FABP6Protein interaction94%NR0B2Protein interaction94%MED1Protein interaction92%
Tissue Expression6 tissues
Liver
100%
Lung
25%
Ovary
19%
Heart
14%
Bone Marrow
6%
Brain
4%
Gene Interaction Network
Click a node to explore
NR1H3NCOA2APOECYP7A1FABP6NR0B2MED1
PROTEIN STRUCTURE
Preparing viewer…
PDB5HJS · 1.72 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.76Intermediate
Observed/Expected LoF0.38 [0.26–0.56]
RankingsWhere NR1H3 stands among ~20K protein-coding genes
  • #946of 20,598
    Most Researched340 · top 5%
  • #4,653of 5,498
    Most Pathogenic Variants1
  • #3,590of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedNR1H3
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Genetic variants regulate NR1H3 expression and contribute to multiple sclerosis risk.
PMID: 29801879
J Neurol Sci · 2018
1.00
2
Silibinin protects against sepsis and septic myocardial injury in an NR1H3-dependent pathway.
PMID: 35640818
Free Radic Biol Med · 2022
0.90
3
Nuclear Receptor NR1H3 in Familial Multiple Sclerosis.
PMID: 27253448
Neuron · 2016
0.80
4
Contributions of NR1H3 genetic polymorphisms to susceptibility and effects of narrowband UVB phototherapy to nonsegmental vitiligo.
PMID: 36854764
Sci Rep · 2023
0.70
5
The pharmacology of LXR.
PMID: 16101409
Mini Rev Med Chem · 2005
0.64