• Gene id: 10062

Gene Summary

• Gene Symbol: NR1H3   Gene   UCSC   Ensembl
• Aliases: LXR-a, LXRA, RLD-1
• Gene name: nuclear receptor subfamily 1 group H member 3
• Alternate names: oxysterols receptor LXR-alpha, liver X nuclear receptor alpha variant 1,
• Gene location: 11p11.2 (47248299: 47269032)     Exons: 16     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 602423

Protein Summary

• Protein general information: Q13133  
  • Name: Oxysterols receptor LXR alpha (Liver X receptor alpha) (Nuclear receptor subfamily 1 group H member 3)
  • Length: 447  
  • Mass: 50,396
• Sequence:

  MSLWLGAPVPDIPPDSAVELWKPGAQDASSQAQGGSSCILREEARMPHSAGGTAGVGLEAAEPTALLTRAEPPSE
  PTEIRPQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRSVIKGAHYICHSGGHCPMDTYMRRKC
  QECRLRKCRQAGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQLSPEQLGMIEKLVAAQQQCN
  RRSFSDRLRVTPWPMAPDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSREDQIALLKTSAIEVMLL
  ETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIFSADRPNVQDQ
  LQVERLQHTYVEALHAYVSIHHPHDRLMFPRMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE

• Structural information:
  • Protein Domains: NR (209-447)
  • Interpro: IPR023257  IPR035500  IPR000536  IPR001723  IPR001628   IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1UHL 3IPQ 3IPS 3IPU 5AVI 5AVL 5HJS
  • PDBsum: 1UHL 3IPQ 3IPS 3IPU 5AVI 5AVL 5HJS
  • STRING: ENSP00000387946
• Other Databases: GeneCards:  NR1H3  Malacards:  NR1H3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0010745	negative regulation of macrophage derived foam cell differentiation	IC	biological process
GO:0010867	positive regulation of triglyceride biosynthetic process	IMP	biological process
GO:0010870	positive regulation of receptor biosynthetic process	IDA	biological process
GO:0010875	positive regulation of cholesterol efflux	IDA	biological process
GO:0010875	positive regulation of cholesterol efflux	IMP	biological process
GO:0010887	negative regulation of cholesterol storage	IMP	biological process
GO:0015485	cholesterol binding	TAS	molecular function
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0032270	positive regulation of cellular protein metabolic process	IMP	biological process
GO:0032369	negative regulation of lipid transport	IMP	biological process
GO:0032376	positive regulation of cholesterol transport	IDA	biological process
GO:0032570	response to progesterone	IDA	biological process
GO:0032810	sterol response element binding	IDA	molecular function
GO:0034145	positive regulation of toll-like receptor 4 signaling pathway	IDA	biological process
GO:0042632	cholesterol homeostasis	ISS	biological process
GO:0042752	regulation of circadian rhythm	TAS	biological process
GO:0043031	negative regulation of macrophage activation	ISS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0043277	apoptotic cell clearance	IMP	biological process
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045723	positive regulation of fatty acid biosynthetic process	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048550	negative regulation of pinocytosis	IMP	biological process
GO:0050728	negative regulation of inflammatory response	ISS	biological process
GO:0051006	positive regulation of lipoprotein lipase activity	IMP	biological process
GO:0055088	lipid homeostasis	ISS	biological process
GO:0055092	sterol homeostasis	ISS	biological process
GO:0060336	negative regulation of interferon-gamma-mediated signaling pathway	NAS	biological process
GO:0070328	triglyceride homeostasis	ISS	biological process
GO:0071222	cellular response to lipopolysaccharide	IDA	biological process
GO:0090188	negative regulation of pancreatic juice secretion	ISS	biological process
GO:0090341	negative regulation of secretion of lysosomal enzymes	ISS	biological process
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:2000188	regulation of cholesterol homeostasis	ISS	biological process
GO:2000189	positive regulation of cholesterol homeostasis	IDA	biological process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0010745	negative regulation of macrophage derived foam cell differentiation	IC	biological process
GO:0010867	positive regulation of triglyceride biosynthetic process	IMP	biological process
GO:0010870	positive regulation of receptor biosynthetic process	IDA	biological process
GO:0010875	positive regulation of cholesterol efflux	IDA	biological process
GO:0010875	positive regulation of cholesterol efflux	IMP	biological process
GO:0010887	negative regulation of cholesterol storage	IMP	biological process
GO:0015485	cholesterol binding	TAS	molecular function
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0032270	positive regulation of cellular protein metabolic process	IMP	biological process
GO:0032369	negative regulation of lipid transport	IMP	biological process
GO:0032376	positive regulation of cholesterol transport	IDA	biological process
GO:0032570	response to progesterone	IDA	biological process
GO:0032810	sterol response element binding	IDA	molecular function
GO:0034145	positive regulation of toll-like receptor 4 signaling pathway	IDA	biological process
GO:0042632	cholesterol homeostasis	ISS	biological process
GO:0042752	regulation of circadian rhythm	TAS	biological process
GO:0043031	negative regulation of macrophage activation	ISS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0043277	apoptotic cell clearance	IMP	biological process
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045723	positive regulation of fatty acid biosynthetic process	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048550	negative regulation of pinocytosis	IMP	biological process
GO:0050728	negative regulation of inflammatory response	ISS	biological process
GO:0051006	positive regulation of lipoprotein lipase activity	IMP	biological process
GO:0055088	lipid homeostasis	ISS	biological process
GO:0055092	sterol homeostasis	ISS	biological process
GO:0060336	negative regulation of interferon-gamma-mediated signaling pathway	NAS	biological process
GO:0070328	triglyceride homeostasis	ISS	biological process
GO:0071222	cellular response to lipopolysaccharide	IDA	biological process
GO:0090188	negative regulation of pancreatic juice secretion	ISS	biological process
GO:0090341	negative regulation of secretion of lysosomal enzymes	ISS	biological process
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:2000188	regulation of cholesterol homeostasis	ISS	biological process
GO:2000189	positive regulation of cholesterol homeostasis	IDA	biological process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0010745	negative regulation of macrophage derived foam cell differentiation	IC	biological process
GO:0010867	positive regulation of triglyceride biosynthetic process	IMP	biological process
GO:0010870	positive regulation of receptor biosynthetic process	IDA	biological process
GO:0010875	positive regulation of cholesterol efflux	IDA	biological process
GO:0010875	positive regulation of cholesterol efflux	IMP	biological process
GO:0010887	negative regulation of cholesterol storage	IMP	biological process
GO:0015485	cholesterol binding	TAS	molecular function
GO:0032270	positive regulation of cellular protein metabolic process	IMP	biological process
GO:0032369	negative regulation of lipid transport	IMP	biological process
GO:0032376	positive regulation of cholesterol transport	IDA	biological process
GO:0032570	response to progesterone	IDA	biological process
GO:0032810	sterol response element binding	IDA	molecular function
GO:0034145	positive regulation of toll-like receptor 4 signaling pathway	IDA	biological process
GO:0042632	cholesterol homeostasis	ISS	biological process
GO:0042752	regulation of circadian rhythm	TAS	biological process
GO:0043031	negative regulation of macrophage activation	ISS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0043277	apoptotic cell clearance	IMP	biological process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045723	positive regulation of fatty acid biosynthetic process	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048550	negative regulation of pinocytosis	IMP	biological process
GO:0050728	negative regulation of inflammatory response	ISS	biological process
GO:0051006	positive regulation of lipoprotein lipase activity	IMP	biological process
GO:0055088	lipid homeostasis	ISS	biological process
GO:0055092	sterol homeostasis	ISS	biological process
GO:0060336	negative regulation of interferon-gamma-mediated signaling pathway	NAS	biological process
GO:0070328	triglyceride homeostasis	ISS	biological process
GO:0071222	cellular response to lipopolysaccharide	IDA	biological process
GO:0090188	negative regulation of pancreatic juice secretion	ISS	biological process
GO:0090341	negative regulation of secretion of lysosomal enzymes	ISS	biological process
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:2000188	regulation of cholesterol homeostasis	ISS	biological process
GO:2000189	positive regulation of cholesterol homeostasis	IDA	biological process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03320	PPAR signaling pathway
hsa04932	Non-alcoholic fatty liver disease
hsa04931	Insulin resistance
hsa05160	Hepatitis C

Diseases

Associated diseases	References
Cancer	GAD: 18636124
Cancer (colorectal)	GAD: 20836841
Cancer (lymphoma)	GAD: 18636124
Atherosclerosis	GAD: 17272748
Cardiovascular disease	GAD: 20855565
Metabolic syndrome	GAD: 18209740
Cholelithiasis	GAD: 16941683
Diabetes	GAD: 19292929
Chronic renal failure	GAD: 21085059
Polycystic ovary syndrome (PCOS)	INFBASE: 25005769
Azoospermia	MIK: 24842676
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 24842676
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24842676	Azoospermia			27 (22 NOA, 5 OA)	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray