NR1H3 - nuclear receptor subfamily 1 group H member 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10062

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

zf-C4: Zinc finger, C4 type (two domains) (97 - 164)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (244 - 427)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 447 a.a.
Protein Preferred Names Protein Names

oxysterols receptor LXR-alpha

NR1H3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NR1H3 Q13133 PPARA Homo sapiens Q07869-1
SPR
15722453
Intra
NR1H3 Q13133 NCOR1 Homo sapiens O75376 26120082
Intra
NR1H3 Q13133 NCOR1 Homo sapiens O75376 33961781
Intra
NR1H3 Q13133 SUV39H1 Homo sapiens O43463
Y2H
23455924
Intra
NR1H3 Q13133 SUV39H1 Homo sapiens O43463 23455924
Intra
NR1H3 Q13133 NCOA1 Homo sapiens Q15788 25962847
Intra
NR1H3 Q13133 NCOA1 Homo sapiens Q15788 20682316
Intra
NR1H3 Q13133 PPARD Homo sapiens Q03181
SPR
15722453
Intra
NR1H3 Q13133 KDM1A Homo sapiens O60341 23455924
Intra
NR1H3 Q13133 RXRG Homo sapiens P48443 31515488
Intra
NR1H3 Q13133 RXRG Homo sapiens P48443 25416956
Intra
NR1H3 Q13133 RXRG Homo sapiens P48443 25416956
Intra
NR1H3 Q13133 RXRG Homo sapiens P48443 25416956
Intra
NR1H3 Q13133 RXRG Homo sapiens P48443
Y2H
21516116
Intra
NR1H3 Q13133 MDFI Homo sapiens Q99750 25416956
Intra
NR1H3 Q13133 RXRB Homo sapiens P28702 25416956
Intra
NR1H3 Q13133 RXRB Homo sapiens P28702 25416956
Intra
NR1H3 Q13133 RXRB Homo sapiens P28702 33961781
Intra
NR1H3 Q13133 PPARG Homo sapiens P37231
SPR
15722453
Intra
NR1H3 Q13133 RXRA Homo sapiens P19793 20682316
Cross: Cross-species interaction Intra: Intraspecies interaction

NR1H3 Antibodies

Cat. No. 상품명 신청 Reactivity
HY-P80423 LXR alpha Antibody (YA305) WB, ICC/IF, IHC-P, FC Human, Mouse, Rat

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

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