Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10062
Gene name Gene Name - the full gene name approved by the HGNC.	Nuclear receptor subfamily 1 group H member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NR1H3
Synonyms (NCBI Gene) Gene synonyms aliases	LXR-a, LXRA, RLD-1
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006068	hsa-miR-613	ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot	21310851
MIRT006068	hsa-miR-613	ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot	21310851
MIRT006068	hsa-miR-613	ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot	21310851
MIRT006068	hsa-miR-613	Luciferase reporter assay	23496987
MIRT006068	hsa-miR-613	Luciferase reporter assay	23496987
MIRT054618	hsa-miR-206	Luciferase reporter assay, qRT-PCR, Western blot	24603323
MIRT006068	hsa-miR-613	qRT-PCR, Luciferase reporter assay, Western blot	24751522
MIRT006068	hsa-miR-613	qRT-PCR, Luciferase reporter assay, Western blot	24751522

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
PPARG	Unknown	11604492

Show/Hide all(61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA	21873635
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	IDA	18511497
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	19229075
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	18511497
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	TAS	7744246
GO:0004879	Function	Nuclear receptor activity	IBA	21873635
GO:0004879	Function	Nuclear receptor activity	IDA	19481530
GO:0004879	Function	Nuclear receptor activity	TAS	7744246
GO:0005515	Function	Protein binding	IPI	12040021, 15722453, 19481530, 20219900, 20682316, 21516116, 23455924, 24713062, 25416956, 25661920, 25962847, 26120082, 31515488
GO:0005634	Component	Nucleus	IDA	25661920
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IDA
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0008270	Function	Zinc ion binding	IEA
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	IC	17693624
GO:0010867	Process	Positive regulation of triglyceride biosynthetic process	IMP	17693624
GO:0010875	Process	Positive regulation of cholesterol efflux	IDA	16141411, 19481530
GO:0010875	Process	Positive regulation of cholesterol efflux	IMP	17186944
GO:0010887	Process	Negative regulation of cholesterol storage	IMP	17693624
GO:0015485	Function	Cholesterol binding	TAS	11090131
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0032270	Process	Positive regulation of cellular protein metabolic process	IMP	17186944
GO:0032369	Process	Negative regulation of lipid transport	IMP	17693624
GO:0032376	Process	Positive regulation of cholesterol transport	IDA	16141411
GO:0032570	Process	Response to progesterone	IDA	16141411
GO:0032810	Function	Sterol response element binding	IDA	19628791
GO:0034145	Process	Positive regulation of toll-like receptor 4 signaling pathway	IDA	18511497
GO:0036151	Process	Phosphatidylcholine acyl-chain remodeling	ISS
GO:0042632	Process	Cholesterol homeostasis	IDA	18511497
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0042752	Process	Regulation of circadian rhythm	TAS	18511497
GO:0043031	Process	Negative regulation of macrophage activation	ISS
GO:0043235	Component	Receptor complex	IDA	18511497
GO:0043277	Process	Apoptotic cell clearance	IMP	19628791
GO:0045723	Process	Positive regulation of fatty acid biosynthetic process	IMP	17186944
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	25661920
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	19628791
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16141411, 18511497, 19481530, 20219900, 20837115
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	17186944, 19229075
GO:0048550	Process	Negative regulation of pinocytosis	IMP	17693624
GO:0050728	Process	Negative regulation of inflammatory response	IBA	21873635
GO:0050728	Process	Negative regulation of inflammatory response	ISS
GO:0051006	Process	Positive regulation of lipoprotein lipase activity	IMP	17186944
GO:0055088	Process	Lipid homeostasis	ISS
GO:0055092	Process	Sterol homeostasis	ISS
GO:0060336	Process	Negative regulation of interferon-gamma-mediated signaling pathway	NAS	21268089
GO:0070328	Process	Triglyceride homeostasis	ISS
GO:0071222	Process	Cellular response to lipopolysaccharide	IDA	18511497
GO:0090188	Process	Negative regulation of pancreatic juice secretion	ISS
GO:0090341	Process	Negative regulation of secretion of lysosomal enzymes	ISS
GO:0090575	Component	RNA polymerase II transcription regulator complex	IDA	18511497
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	21173252
GO:1903573	Process	Negative regulation of response to endoplasmic reticulum stress	ISS

MIM	HGNC	e!Ensembl
602423	7966	ENSG00000025434

Protein

UniProt ID

Q13133

Protein name

Oxysterols receptor LXR-alpha (Liver X receptor alpha) (Nuclear receptor subfamily 1 group H member 3)

Protein function

Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:19481530, PubMed:25661920, PubMed:37478846). Interaction with retinoic acid receptor (RXR) shifts RXR from its role as a silent DNA-binding partner to

PDB

1UHL , 3IPQ , 3IPS , 3IPU , 5AVI , 5AVL , 5HJS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00105	zf-C4	96 → 165	Zinc finger, C4 type (two domains)	Domain
PF00104	Hormone_recep	243 → 431	Ligand-binding domain of nuclear hormone receptor	Domain

Tissue specificity

TISSUE SPECIFICITY: Visceral organs specific expression. Strong expression was found in liver, kidney and intestine followed by spleen and to a lesser extent the adrenals.

Sequence

MSLWLGAPVPDIPPDSAVELWKPGAQDASSQAQGGSSCILREEARMPHSAGGTAGVGLEA
AEPTALLTRAEPPSEPTEIRPQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKG
FFRRSVIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQAGMREECVLSEEQIRLKKLK
RQEEEQAHATSLPPRASSPPQILPQLSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTPWPM
APDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSREDQIALLKTSAIEVMLL
ETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLI
AISIFSADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHDRLMFPRMLMKLVSLRTLSSV
HSEQVFALRLQDKKLPPLLSEIWDVHE

Sequence length

447

Interactions

View interactions

	KEGG		Reactome
	PPAR signaling pathway Efferocytosis Insulin resistance Non-alcoholic fatty liver disease Hepatitis C		PPARA activates gene expression Nuclear Receptor transcription pathway SUMOylation of intracellular receptors VLDLR internalisation and degradation NR1H2 & NR1H3 regulate gene expression linked to lipogenesis NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux NR1H2 & NR1H3 regulate gene expression to limit cholesterol uptake NR1H2 & NR1H3 regulate gene expression linked to triglyceride lipolysis in adipose NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis NR1H2 & NR1H3 regulate gene expression linked to gluconeogenesis

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	17256725
Metabolic syndrome	Metabolic Syndrome X	rs367643250, rs587777380, rs777736953	22399527
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039 View all (4 more)	27253448

Show/Hide Unknown Diseases (4)

Disease term	Disease name	References	Source
Unknown
Coronary heart disease	Coronary heart disease	21347282	ClinVar
Mental depression	Major Depressive Disorder	29942085	ClinVar
Metabolic Syndrome	Metabolic Syndrome		GWAS
Hypertension	Hypertension		GWAS

Show/Hide Text Mining Associations (62)

Disease Name	Relationship Type	References
Associations from Text Mining
Abruptio Placentae	Associate	30194050
Acne Vulgaris	Associate	17960176
Adenocarcinoma of Lung	Associate	29573196
Adrenocortical Carcinoma	Associate	32276262
Alzheimer Disease	Inhibit	24278306
Alzheimer Disease	Associate	24278306
Anorexia Nervosa	Associate	35703085
Anti N Methyl D Aspartate Receptor Encephalitis	Associate	34584012
Ascites	Associate	30526541
Atherosclerosis	Associate	16311343, 21625070, 23393188, 23451202, 25833686, 27896567, 36211824
Atherosclerosis	Inhibit	29420090
Carcinoma Hepatocellular	Associate	29230000, 33941198
Cerebral Amyloid Angiopathy	Associate	38016947
Cerebral Infarction	Associate	25729942, 27070640
Chronobiology Disorders	Associate	21562465
Coronary Artery Disease	Associate	21562465
Coronary Disease	Associate	21562465, 23840567, 27070640
Cytokine Release Syndrome	Associate	30944547
Dementia Vascular	Associate	31932555
Dermatitis Seborrheic	Associate	17960176
Diabetes Mellitus Type 2	Associate	33426085, 33788629, 40691909
Diabetic Nephropathies	Associate	33426085
Diabetic Retinopathy	Associate	40691909
Drug Related Side Effects and Adverse Reactions	Associate	32276262
Dyslipidemias	Associate	21562465
Endometrial Neoplasms	Associate	29371332
Fatty Liver	Associate	22641099, 25474087, 37385614
Gallstones	Stimulate	18007013
Glaucoma	Associate	29617998
Hypertrophy	Associate	34854353
Hypoxia	Stimulate	35151242
Hypoxia	Associate	38016947
Hypoxia Brain	Associate	38016947
Inflammation	Associate	17960176, 20939869, 21145308, 21562465, 23115616, 23185273, 23393188, 23965158, 26379423, 30944547, 35682840, 35850118, 36768382, 40691909
Inflammation	Inhibit	19944411, 29420090
Iron Overload	Stimulate	21114893
Kidney Neoplasms	Associate	36189312
Leukemia Myeloid Acute	Associate	16647568
Liver Diseases	Associate	35246921
Lupus Erythematosus Systemic	Associate	24886807, 30944547
Lymphoma Large B Cell Diffuse	Associate	35850118
Metabolic Syndrome	Associate	31670283
Multiple Sclerosis	Associate	27253441, 27253448, 27764668, 27764669
Myocardial Infarction	Associate	21562465, 30413149, 33667626
Neoplasms	Inhibit	23867395
Neoplasms	Associate	26493292, 33637015, 35850118
Obesity	Associate	26449484, 30813326, 31670283
Osteoarthritis	Associate	19217805, 33415161, 34899727
Osteosarcoma	Inhibit	23867395
Ovarian Neoplasms	Associate	30526541
Pancreatic Neoplasms	Associate	21445555
Plaque Atherosclerotic	Associate	21350215, 24036496
Pre Eclampsia	Associate	37458649
Prostatic Neoplasms	Associate	38031260
Sarcoma	Associate	33316779
Stomach Neoplasms	Associate	33637015, 35151242, 38062450
Stroke	Associate	21562465, 25729942
Systemic Inflammatory Response Syndrome	Associate	26379423
Tuberculosis	Associate	24788534
Tuberculosis	Inhibit	24788534
Urinary Bladder Neoplasms	Associate	38216619
Vitiligo	Associate	36854764

NR1H3 (nuclear receptor subfamily 1 group H member 3)