NR1H3 - nuclear receptor subfamily 1 group H member 3 Gene

Homo sapiens

Also known as LXRA; LXR-a; RLD-1

Gene ID: 10062 | Gene type: protein coding

About NR1H3

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:47,248,300-47,269,033 (from NCBI)

This gene has 35 transcripts (splice variants), 392 orthologues and 18 paralogues. Ubiquitous expression in fat (RPKM 25.1), spleen (RPKM 16.7) and 23 other tissues.

Summary

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]

NR1H3 Products(6)

mRNA	Protein	Name
NM_001130101.3	NP_001123573.1	oxysterols receptor LXR-alpha isoform 2
NM_001130102.3	NP_001123574.1	oxysterols receptor LXR-alpha isoform 3
NM_001251934.2	NP_001238863.1	oxysterols receptor LXR-alpha isoform 4
NM_001251935.2	NP_001238864.1	oxysterols receptor LXR-alpha isoform 4
NM_001363595.2	NP_001350524.1	oxysterols receptor LXR-alpha isoform 5
NM_005693.4	NP_005684.2	oxysterols receptor LXR-alpha isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables nuclear receptor activity	IDA IDA: Inferred from direct assay	19481530	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12040021	GOA
enables sterol response element binding	IDA IDA: Inferred from direct assay	19628791	GOA
contributes to transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	18511497	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	19229075	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in apoptotic cell clearance	IMP IMP: Inferred from mutant phenotype	19628791	GOA
involved in cellular response to lipopolysaccharide	IDA IDA: Inferred from direct assay	18511497	GOA
involved in cholesterol homeostasis	IDA IDA: Inferred from direct assay	18511497	GOA
involved in hormone-mediated signaling pathway	IDA IDA: Inferred from direct assay	7744246	GOA
involved in mRNA transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	7744246	GOA
involved in negative regulation of cholesterol storage	IMP IMP: Inferred from mutant phenotype	17693624	GOA
involved in negative regulation of lipid transport	IMP IMP: Inferred from mutant phenotype	17693624	GOA
involved in negative regulation of pinocytosis	IMP IMP: Inferred from mutant phenotype	17693624	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	25661920	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	19628791	GOA
involved in positive regulation of cholesterol efflux	IDA IDA: Inferred from direct assay	16141411	GOA
involved in positive regulation of cholesterol efflux	IMP IMP: Inferred from mutant phenotype	17186944	GOA
involved in positive regulation of cholesterol transport	IDA IDA: Inferred from direct assay	16141411	GOA
involved in positive regulation of fatty acid biosynthetic process	IMP IMP: Inferred from mutant phenotype	17186944	GOA
involved in positive regulation of lipid biosynthetic process	IDA IDA: Inferred from direct assay	23499676	GOA
involved in positive regulation of lipoprotein lipase activity	IMP IMP: Inferred from mutant phenotype	17186944	GOA
involved in positive regulation of protein metabolic process	IMP IMP: Inferred from mutant phenotype	17186944	GOA
involved in positive regulation of toll-like receptor 4 signaling pathway	IDA IDA: Inferred from direct assay	18511497	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	7744246	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	17186944	GOA
involved in positive regulation of triglyceride biosynthetic process	IMP IMP: Inferred from mutant phenotype	17693624	GOA
involved in response to progesterone	IDA IDA: Inferred from direct assay	16141411	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of RNA polymerase II transcription regulator complex	EXP EXP: Inferred from Experiment	19167885	GOA
part of RNA polymerase II transcription regulator complex	IDA IDA: Inferred from direct assay	18511497	GOA
part of RNA polymerase II transcription regulator complex	IPI IPI: Inferred from physical interaction	25416956	GOA
located in chromatin	IDA IDA: Inferred from direct assay	18511497	GOA
located in nucleus	IDA IDA: Inferred from direct assay	25661920	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	18511497	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NR1H3 Protein Structure

zf-C4

Hormone_recep

0
100
200
300
400
447 a.a.

Protein Preferred Names

Protein Names

oxysterols receptor LXR-alpha

Related Diseases

Diseases

Alias

Multiple Sclerosis

MS	Multiple Sclerosis, Susceptibility To
Disseminated Sclerosis	Multiple Sclerosis, Disease Progression, Modifier Of
Insular Sclerosis	Multiple Sclerosis Modifier Of Disease Progression
Multiple Sclerosis, Susceptibility To 1	Multiple Sclerosis, Susceptibility To, 1
Multiple Sclerosis 1	Generalized Multiple Sclerosis
Multiple Sclerosis Variant	Multiple Sclerosis Susceptibility To
Cerebrospinal Sclerosis	Generalised Multiple Sclerosis
Ms - [Multiple Sclerosis]	Disseminated Cerebrospinal Sclerosis
Disseminated Multiple Sclerosis	Disseminated Nervous System Myelosclerosis
Multiple Cerebrospinal Sclerosis	Multiple Combined Sclerosis
Multiple Sclerosis Generalised	Disseminated Brain Sclerosis
Disseminated Spinal Sclerosis	Insular Brain Sclerosis
Miliary Brain Sclerosis	Multiple Combined Sclerosis Of Spinal Cord
Multiple Ascending Sclerosis	Multiple Brain Sclerosis
Multiple Sclerosis Of Brain Stem	Multiple Sclerosis Of The Brain Stem
Multiple Sclerosis Of Cord	Sclérose En Plaques
Plaque Sclerosis	Multiple Sclerosis Of The Spinal Cord

Fatty Liver Disease

Alcoholic Fatty Liver	Fatty Liver
Fatty Liver, Alcoholic	Fatty Change Of Liver
Hepatic Lipidosis	Steatosis Of Liver
Fatty Liver Alcoholic	Steatohepatitis
Etoh Fatty Liver	Etoh Fatty Liver Metamorphosis
Fatty Etoh Liver Necrosis

Cerebrotendinous Xanthomatosis

CTX	Cerebral Cholesterinosis
Cholestanol Storage Disease	Xanthomatosis, Cerebrotendinous
Sterol 27-Hydroxylase Deficiency	Xanthomatosis Cerebrotendinous
Cerebrotendinous Cholesterinosis	Cholestanolosis
Van Bogaert-Scherer-Epstein Disease

Xanthomatosis

Xanthomatosis, Susceptibility To

Xanthelasmatosis

Liver Disease

Liver Failure	Liver Diseases
Abnormality Of The Liver	Liver Dysfunction
Disorder Of Liver	Hepatic Disorder
Hepatic Disease	Disease Of Bilirubin Metabolism
Disorder Of Bilirubin Metabolism	Liver Decompensation
Liver Function Failure	Hepatic Failure Nos
Liver Failure Nos	End Stage Liver Disease
Decompensated Liver Failure	Decompensation Of Liver Function
Hepatic Decompensation	Hepatic Insufficiency
Liver Cell Necrosis With Hepatic Failure	Liver Insufficiency
Decompensated Liver Disease	End Stage Liver Failure
Liver Necrosis With Hepatic Failure

Pulmonary Alveolar Proteinosis

Non-Alcoholic Fatty Liver Disease

Fatty Liver	Non-Alcoholic Fatty Liver
Nafld	Nonalcoholic Fatty Liver Disease
Nonalcoholic Steatohepatitis	Steatosis
Nafl	Nash
Non-Alcoholic Steatohepatitis	Susceptibility To Nonalcoholic Fatty Liver Disease
Steatohepatitis	Fatty Degeneration
Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis	Nafld Without Nash
Nafld Without Mention Of Nash

Myxoid Liposarcoma

Myxoid/Round Cell Liposarcoma	Liposarcoma, Myxoid
Mrcls	Myxoliposarcoma
MXLIPO	Liposarcoma Myxoid
Liposarcoma

Diabetes Mellitus

Diabetes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09530	NR1H3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NR1H3	RGD	RGD:61909
Bos taurus	NR1H3	VGNC	VGNC:32231
Canis familiaris	NR1H3	VGNC	VGNC:43943
Macaca mulatta	NR1H3	VGNC	VGNC:75505
Felis catus	NR1H3	VGNC	VGNC:68545
Mus musculus	NR1H3	MGD	MGI:1352462
Others	NR1H3	NCBI

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