NR1H3 (nuclear receptor subfamily 1 group H member 3)

2007-04-01  

Identity

HGNC
LOCATION
11p11.2
LOCUSID
ALIAS
LXR-a,LXRA,RLD-1

Other Information

Locus ID:

NCBI: 10062
MIM: 602423
HGNC: 7966
Ensembl: ENSG00000025434

Variants:

dbSNP: 10062
ClinVar: 10062
TCGA: ENSG00000025434
COSMIC: NR1H3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000025434ENST00000395397Q13133
ENSG00000025434ENST00000405576B5MBY7
ENSG00000025434ENST00000405853Q13133
ENSG00000025434ENST00000407404Q13133
ENSG00000025434ENST00000412937C9J2C8
ENSG00000025434ENST00000419652F8WEY6
ENSG00000025434ENST00000420369F8WC63
ENSG00000025434ENST00000436029C9JBS2
ENSG00000025434ENST00000436778C9JJ16
ENSG00000025434ENST00000437276C9JEC2
ENSG00000025434ENST00000441012Q13133
ENSG00000025434ENST00000441012F1D8N1
ENSG00000025434ENST00000444396C9J4R0
ENSG00000025434ENST00000449369C9JCS0
ENSG00000025434ENST00000457932C9JTS4
ENSG00000025434ENST00000467728Q13133
ENSG00000025434ENST00000467728F1D8N1
ENSG00000025434ENST00000481889E9PLL4
ENSG00000025434ENST00000527949E9PID2
ENSG00000025434ENST00000531660E9PPA1
ENSG00000025434ENST00000616973B4DXU5

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
PPAR signaling pathwayKEGGko03320
PPAR signaling pathwayKEGGhsa03320
Hepatitis CKEGGko05160
Hepatitis CKEGGhsa05160
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Nuclear Receptor transcription pathwayREACTOMER-HSA-383280
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
Insulin resistanceKEGGhsa04931
VLDL interactionsREACTOMER-HSA-8855121
VLDLR internalisation and degradationREACTOMER-HSA-8866427

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA346SULT2A1GeneMultilinkAnnotationassociated26555224
PA443796Coronary Artery DiseaseDiseaseClinicalAnnotationassociatedPD21562465
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD21562465
PA448499atenololChemicalClinicalAnnotationassociatedPD21562465
PA451868verapamilChemicalClinicalAnnotationassociatedPD21562465

References

Pubmed IDYearTitleCitations
190609102009Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.337
172182712007Parallel SUMOylation-dependent pathways mediate gene- and signal-specific transrepression by LXRs and PPARgamma.205
213502152011Human atherosclerotic plaque alternative macrophages display low cholesterol handling but high phagocytosis because of distinct activities of the PPARγ and LXRα pathways.111
198377212010Liver X receptor in cholesterol metabolism.102
212667762011Liver X receptor (LXR) mediates negative regulation of mouse and human Th17 differentiation.87
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
200375952010Tumor-mediated liver X receptor-alpha activation inhibits CC chemokine receptor-7 expression on dendritic cells and dampens antitumor responses.72
181826822008Thematic review series: skin lipids. Peroxisome proliferator-activated receptors and liver X receptors in epidermal biology.71
120321512002Regulated expression of the apolipoprotein E/C-I/C-IV/C-II gene cluster in murine and human macrophages. A critical role for nuclear liver X receptors alpha and beta.58
201908112010Liver X Receptor activation downregulates AKT survival signaling in lipid rafts and induces apoptosis of prostate cancer cells.55

Citation

Dessen P

NR1H3 (nuclear receptor subfamily 1 group H member 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47418/nr1h3