Aliases for NR1H3 Gene
Aliases for NR1H3 Gene
External Ids for NR1H3 Gene
- HGNC: 7966
- Entrez Gene: 10062
- Ensembl: ENSG00000025434
- OMIM: 602423
- UniProtKB: Q13133
Previous GeneCards Identifiers for NR1H3 Gene
- GC11P049220
- GC11P048157
- GC11P047302
- GC11P047245
- GC11P047243
- GC11P047236
- GC11P046969
Summaries for NR1H3 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 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]
GeneCards Summary for NR1H3 Gene
NR1H3 (Nuclear Receptor Subfamily 1 Group H Member 3) is a Protein Coding gene. Diseases associated with NR1H3 include Multiple Sclerosis and Cerebrotendinous Xanthomatosis. Among its related pathways are Gene Expression and PPAR Alpha Pathway. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcription coactivator activity. An important paralog of this gene is NR1H2.
UniProtKB/Swiss-Prot for NR1H3 Gene
-
Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:19481530, PubMed:25661920). Interaction with retinoic acid receptor (RXR) shifts RXR from its role as a silent DNA-binding partner to an active ligand-binding subunit in mediating retinoid responses through target genes defined by LXRES (By similarity). LXRES are DR4-type response elements characterized by direct repeats of two similar hexanuclotide half-sites spaced by four nucleotides (By similarity). Plays an important role in the regulation of cholesterol homeostasis, regulating cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8 (PubMed:19481530). Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity).
-
Liver X receptors (LXRs) and farnesoid X receptors (FXRs) are members of the steroid analog-activated nuclear receptor subfamily, which form heterodimers with members of the retinoid X receptor family. There are two closely related isoforms of each of these enzymes; alpha and beta.
Additional gene information for NR1H3 Gene
- Monarch Initiative
- Search for NR1H3 at DataMed
- Search for NR1H3 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NR1H3 Gene
Genomics for NR1H3 Gene
GeneHancer (GH) Regulatory Elements for NR1H3 Gene
Promoters and enhancers for NR1H3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around NR1H3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the NR1H3 gene promoter:
-
- COUP-TF
- COUP
- HNF-4alpha2
- COUP-TF1
- HNF-4alpha1
Regulatory Element Products
Genomic Locations for NR1H3 Gene
Genomic Locations for NR1H3 Gene
- chr11:47,248,300-47,269,033
- (GRCh38/hg38)
- Size:
- 20,734 bases
- Orientation:
- Plus strand
- chr11:47,269,851-47,290,401
- (GRCh37/hg19)
- Size:
- 20,551 bases
- Orientation:
- Plus strand
Genomic View for NR1H3 Gene
Genes around NR1H3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p11.2 by Entrez Gene
- 11p11.2 by HGNC
- 11p11.2 by Ensembl
NR1H3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NR1H3 Gene
Proteins for NR1H3 Gene
-
Protein details for NR1H3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13133-NR1H3_HUMAN
- Recommended name:
- Oxysterols receptor LXR-alpha
- Protein Accession:
- Q13133
- A8K3J9
- D3DQR1
- Q8IW13
- Q96H87
Protein attributes for NR1H3 Gene
- Size:
- 447 amino acids
- Molecular mass:
- 50396 Da
- Quaternary structure:
-
- Heterodimer of NR1H3 and RXR (retinoic acid receptor). Interacts with CCAR2 (via N-terminus) in a ligand-independent manner. Interacts with SIRT1 and this interaction is inhibited by CCAR2 (PubMed:25661920). Interacts with GPS2 (PubMed:19481530).
Three dimensional structures from OCA and Proteopedia for NR1H3 Gene
Protein Expression for NR1H3 Gene
Post-translational modifications for NR1H3 Gene
Other Protein References for NR1H3 Gene
- ENSEMBL proteins:
-
- ENSP00000434650
- ENSP00000385801
- ENSP00000406692
- ENSP00000415591
- ENSP00000412636
- ENSP00000385073
- ENSP00000432073
- ENSP00000391005
- ENSP00000384745
- ENSP00000477707
- ENSP00000413095
- ENSP00000403798
- ENSP00000403696
- ENSP00000396132
- ENSP00000407716
- ENSP00000433271
- ENSP00000378793
- ENSP00000420656
- ENSP00000387946
- REFSEQ proteins:
-
- XP_011518110.1
- XP_024304060.1
- XP_024304070.1
- XP_011518109.1
- XP_024304066.1
- XP_024304056.1
- XP_005252763.1
- XP_005252775.1
- XP_024304065.1
- XP_024304055.1
- NP_005684.2
- NP_001123573.1
- XP_024304064.1
- XP_024304054.1
- XP_005252770.1
- XP_024304063.1
- XP_024304053.1
- XP_016872545.1
- XP_024304069.1
- XP_024304059.1
- XP_011518107.1
- NP_001123574.1
- XP_024304061.1
- XP_024304062.1
- XP_024304052.1
- NP_001238864.1
- XP_024304068.1
- XP_024304058.1
- NP_001238863.1
- XP_011518108.1
- XP_016872546.1
- XP_024304067.1
- XP_024304057.1
Antibody Products
- R&D Systems Antibodies for NR1H3 (LXR alpha/NR1H3)
-
Custom Antibody ServicesOriGene Antibodies for NR1H3
- Novus Biologicals Antibodies for NR1H3
-
Abcam antibodies for NR1H3
- Invitrogen Antibodies for NR1H3 (AFLGC-NR1H3)
- antibodies-online: Search results for 129 available NR1H3 Antibodies ranked by validation data
- Compare Top NR1H3 Antibodies
-
Recommended
- GeneTex NR1H3 Antibody for NR1H3
-
Custom Antibody ServicesProSci Antibodies for NR1H3
-
Santa Cruz Biotechnology (SCBT) Antibodies for NR1H3
Protein Products
-
OriGene Purified Proteins for NR1H3
- Search Origene for MassSpec and Protein Over-expression Lysates for NR1H3
- Origene Custom Protein Services for NR1H3
- Search GeneTex for Proteins for NR1H3
-
Abcam proteins for NR1H3
Assay Products
No data available for DME Specific Peptides for NR1H3 Gene
Domains & Families for NR1H3 Gene
Gene Families for NR1H3 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Nuclear receptors
- Plasma proteins
- Predicted intracellular proteins
- Transcription factors
Protein Domains for NR1H3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for NR1H3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q13133- Family:
-
- Belongs to the nuclear hormone receptor family. NR1 subfamily.
Function for NR1H3 Gene
Molecular function for NR1H3 Gene
- UniProtKB/Swiss-Prot Function:
- Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:19481530, PubMed:25661920). Interaction with retinoic acid receptor (RXR) shifts RXR from its role as a silent DNA-binding partner to an active ligand-binding subunit in mediating retinoid responses through target genes defined by LXRES (By similarity). LXRES are DR4-type response elements characterized by direct repeats of two similar hexanuclotide half-sites spaced by four nucleotides (By similarity). Plays an important role in the regulation of cholesterol homeostasis, regulating cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8 (PubMed:19481530). Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity).
- UniProtKB/Swiss-Prot Induction:
- By 9-cis retinoic acid (9CRA).
Phenotypes From GWAS Catalog for NR1H3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | IBA | -- |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | -- |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | NAS | 19274049 |
| GO:0001076 | transcription factor activity, RNA polymerase II transcription factor binding | IBA | -- |
Phenotypes for NR1H3 Gene
- MGI mutant phenotypes for NR1H3:
-
inferred from 8 alleles
- cardiovascular system phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- normal phenotype
- hematopoietic system phenotype
- immune system phenotype
- GenomeRNAi human phenotypes for NR1H3:
-
- Decreased viability ratio
- Decreased HPV16-GFP infection
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Increased cell death HMECs cells
- Reduced mammosphere formation
- Decreased ionizing radiation sensitivity
- Decreased viability with TRAIL
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased free cholesterol
Animal Models for NR1H3 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for NR1H3
- Cyagen custom Knockout/knockin (KOKI) mouse models for NR1H3
-
CRISPR Products
-
OriGene CRISPR knockouts for NR1H3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NR1H3
- genomics-online: gRNA clones - Search results for available NR1H3 gene related products
- Applied Biological Materials CRISPR for NR1H3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NR1H3
- GenScript: Design CRISPR guide RNA sequences for NR1H3
miRNA for NR1H3 Gene
- miRTarBase miRNAs that target NR1H3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NR1H3
- Browse OriGene Inhibitory RNA Products For NR1H3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR1H3
- genomics-online: shRNA clones - Search results for available NR1H3 gene related products
Clone Products
-
OriGene ORF clones in human for NR1H3
- RC223767
- RC223767L1
- RC223767L2
- RC223767L3
- RC223767L4
- RC225591
- RC225591L1
- RC225591L2
- RC225591L3
- RC225591L4
- RC225628
- RC225628L1
- RC225628L2
- RC225628L3
- RC225628L4
- RC234144
- RC234145
- RC523767
- RG223767
- RG225591
- RG225628
- RG234144
- RG234145
- RC223767L1V
- RC223767L2V
- RC223767L3V
- RC223767L4V
- RC225591L1V
- RC225591L2V
- RC225591L3V
- RC225591L4V
- RC225628L1V
- RC225628L2V
- RC225628L3V
- RC225628L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for NR1H3 in any vector
- XM_005252707.4
- XM_005252718.3
- XM_005252716.3
- XM_005252713.3
- NM_005693.3
- NM_001130101.2
- XM_005252715.2
- XM_011519808.2
- XM_011519805.2
- NM_001251935.1
- NM_001251934.1
- XM_011519806.1
- XM_017017056.1
- XM_006718115.1
- XM_005252709.1
- XM_005252710.1
- XM_005252706.1
- XM_017017057.1
- XM_011519807.1
- XM_017017058.1
- XM_006718116.1
- XM_005252705.1
- XM_006718113.1
- XM_006718112.1
- XM_006718113.1
- XM_006718112.1
- Sino Biological Human cDNA Clone for NR1H3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NR1H3
- genomics-online: cdna clones - Search results for available NR1H3 gene related products
- orf clones - Search results for available NR1H3 gene related products
- Applied Biological Materials Clones for NR1H3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for NR1H3
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NR1H3 Gene
Localization for NR1H3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NR1H3 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| extracellular | 2 |
| peroxisome | 2 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | IDA | 18511497 |
| GO:0005634 | nucleus | IDA,IEA | 25661920 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0043235 | receptor complex | IDA | 18511497 |
| GO:0090575 | RNA polymerase II transcription factor complex | IEA,IDA | 18511497 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for NR1H3 Gene
Pathways & Interactions for NR1H3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Lipoprotein metabolism | ||
| 2 | Gene Expression |
.48
|
|
| 3 | Metabolism |
.37
|
|
| 4 | Nuclear Receptor transcription pathway | ||
| 5 | Angiopoietin Like Protein 8 Regulatory Pathway | ||
Pathways by source for NR1H3 Gene
8 BioSystems pathways for NR1H3 Gene
9 Reactome pathways for NR1H3 Gene
4 KEGG pathways for NR1H3 Gene
Interacting Proteins for NR1H3 Gene
Selected Interacting proteins:
ENSP00000387946
Q13133-NR1H3_HUMAN
for NR1H3 Gene via
STRING
MINT
UniProtKB
IID
GPS-Prot Interaction Network for NR1H3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006366 | transcription by RNA polymerase II | IEA | -- |
| GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
Drugs & Compounds for NR1H3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Diacerein | Approved, Investigational | Pharma | Target, inhibitor | 0 | ||
| Atenolol | Approved | Pharma | Antagonist | 108 | ||
| Verapamil | Approved | Pharma | Channel blocker, Pore Blocker, Inhibition, Inhibitor | 135 | ||
| (2E,4E)-11-METHOXY-3,7,11-TRIMETHYLDODECA-2,4-DIENOIC ACID | Experimental | Pharma | Target | 0 | ||
| 1-BENZYL-3-(4-METHOXYPHENYLAMINO)-4-PHENYLPYRROLE-2,5-DIONE | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| GW 4064 |
|
278779-30-9 |
|
|
(3) Tocris Compounds for NR1H3 Gene
| Compound | Action | Cas Number |
|---|---|---|
| 27-Hydroxycholesterol | LXR agonist; also ER partial agonist | 20380-11-4 |
| GW 4064 | Selective farnesoid X receptor (FXR) agonist | 278779-30-9 |
| T 0901317 | Potent liver X receptor (LXR) agonist; also CAR inverse agonist | 293754-55-9 |
Drug Products
Transcripts for NR1H3 Gene
mRNA/cDNA for NR1H3 Gene
- (33) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (196) Selected AceView cDNA sequences:
- (35) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000495866 569 bps (uc058bcg.1)
- ENST00000527464 1183 bps (uc058bch.1)
- ENST00000529540 1673 bps (uc058bci.1)
- ENST00000395397 1501 bps (uc001nek.4)
- ENST00000405576 1352 bps (uc058bcj.1)
Unigene Clusters for NR1H3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for NR1H3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NR1H3
- genomics-online: gRNA clones - Search results for available NR1H3 gene related products
- Applied Biological Materials CRISPR for NR1H3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NR1H3
- GenScript: Design CRISPR guide RNA sequences for NR1H3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NR1H3
- Browse OriGene Inhibitory RNA Products For NR1H3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR1H3
- genomics-online: shRNA clones - Search results for available NR1H3 gene related products
Clone Products
-
OriGene ORF clones in human for NR1H3
- RC223767
- RC223767L1
- RC223767L2
- RC223767L3
- RC223767L4
- RC225591
- RC225591L1
- RC225591L2
- RC225591L3
- RC225591L4
- RC225628
- RC225628L1
- RC225628L2
- RC225628L3
- RC225628L4
- RC234144
- RC234145
- RC523767
- RG223767
- RG225591
- RG225628
- RG234144
- RG234145
- RC223767L1V
- RC223767L2V
- RC223767L3V
- RC223767L4V
- RC225591L1V
- RC225591L2V
- RC225591L3V
- RC225591L4V
- RC225628L1V
- RC225628L2V
- RC225628L3V
- RC225628L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for NR1H3 in any vector
- XM_005252707.4
- XM_005252718.3
- XM_005252716.3
- XM_005252713.3
- NM_005693.3
- NM_001130101.2
- XM_005252715.2
- XM_011519808.2
- XM_011519805.2
- NM_001251935.1
- NM_001251934.1
- XM_011519806.1
- XM_017017056.1
- XM_006718115.1
- XM_005252709.1
- XM_005252710.1
- XM_005252706.1
- XM_017017057.1
- XM_011519807.1
- XM_017017058.1
- XM_006718116.1
- XM_005252705.1
- XM_006718113.1
- XM_006718112.1
- XM_006718113.1
- XM_006718112.1
- Sino Biological Human cDNA Clone for NR1H3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NR1H3
- genomics-online: cdna clones - Search results for available NR1H3 gene related products
- orf clones - Search results for available NR1H3 gene related products
- Applied Biological Materials Clones for NR1H3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | · | 3f | · | 3g | · | 3h | · | 3i | · | 3j | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP19: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP20: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP21: |
| ExUns: | 9c | · | 9d | · | 9e | · | 9f | ^ | 10a | · | 10b | · | 10c | · | 10d | · | 10e | · | 10f | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | |||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||||
| SP17: | |||||||||||||||||||||||||||||||||
| SP18: | |||||||||||||||||||||||||||||||||
| SP19: | |||||||||||||||||||||||||||||||||
| SP20: | |||||||||||||||||||||||||||||||||
| SP21: |
Expression for NR1H3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for NR1H3 Gene
This gene is overexpressed in Liver (x4.2).
This gene is overexpressed in Stomach (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NR1H3 Gene
NURSA nuclear receptor signaling pathways regulating expression of NR1H3 Gene:
NR1H3SOURCE GeneReport for Unigene cluster for NR1H3 Gene:
Hs.438863mRNA Expression by UniProt/SwissProt for NR1H3 Gene:
Q13133-NR1H3_HUMAN
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.
Evidence on tissue expression from TISSUES for NR1H3 Gene
- Liver(4.6)
- Nervous system(4.3)
- Heart(4.2)
- Gall bladder(2.2)
- Intestine(2.1)
Primer Products
-
OriGene qPCR primer pairs for NR1H3
-
OriGene qPCR primer pairs and template standards for NR1H3
- genomics-online: primer clones - Search results for available NR1H3 gene related products
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NR1H3 Gene
Orthologs for NR1H3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NR1H3 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | NR1H3 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | NR1H3 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Nr1h3 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Nr1h3 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | NR1H3 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | NR1H3 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LXR 34 |
|
OneToOne | |
| NR1H3 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | NR1H3 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | nr1h3 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | EcR 34 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | Cin.5106 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.5106 33 |
|
- Species where no ortholog for NR1H3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for NR1H3 Gene
- ENSEMBL:
- Gene Tree for NR1H3 (if available)
- TreeFam:
- Gene Tree for NR1H3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NR1H3: view image
Paralogs for NR1H3 Gene
(39) SIMAP similar genes for NR1H3 Gene using alignment to 16 proteins:
- NR1H3_HUMAN
- B5MBY7_HUMAN
- B6ZGS8_HUMAN
- C9J2C8_HUMAN
- C9J4R0_HUMAN
- C9JBS2_HUMAN
- C9JCS0_HUMAN
- C9JEC2_HUMAN
- C9JJ16_HUMAN
- C9JTS4_HUMAN
- E9PID2_HUMAN
- E9PLL4_HUMAN
- E9PPA1_HUMAN
- F1D8N1_HUMAN
- F8WC63_HUMAN
- F8WEY6_HUMAN
Variants for NR1H3 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs61731956 | pathogenic, Multiple sclerosis | 47,268,596(+) | G/A | coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant | |
| rs1000022350 | -- | 47,257,992(+) | C/G | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000196549 | -- | 47,257,014(+) | G/A | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000214685 | -- | 47,250,638(+) | A/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000233100 | -- | 47,256,869(+) | T/C | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3626200 | CNV | loss | 21293372 |
Residual Variation Intolerance Score:
24.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.12;
22.74% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NR1H3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR1H3 Gene
Disorders for NR1H3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| multiple sclerosis |
|
|
| cerebrotendinous xanthomatosis |
|
|
Search NR1H3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for NR1H3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for NR1H3 Gene
Publications for NR1H3 Gene
- Functional and genetic analysis in type 2 diabetes of liver X receptor alleles--a cohort study. (PMID: 19292929) Dahlman I … Steffensen KR (BMC medical genetics 2009) 3 22 44 58
- Association between liver X receptor alpha gene polymorphisms and risk of metabolic syndrome in French populations. (PMID: 18209740) Legry V … Meirhaeghe A (International journal of obesity (2005) 2008) 3 22 44 58
- The lipoprotein/lipid profile is modulated by a gene-diet interaction effect between polymorphisms in the liver X receptor-alpha and dietary cholesterol intake in French-Canadians. (PMID: 17217555) Robitaille J … Vohl MC (The British journal of nutrition 2007) 3 22 44 58
- LXR, a nuclear receptor that defines a distinct retinoid response pathway. (PMID: 7744246) Willy PJ … Mangelsdorf DJ (Genes & development 1995) 2 3 4 58
- CCAR2 negatively regulates nuclear receptor LXRα by competing with SIRT1 deacetylase. (PMID: 25661920) Sakurabashi A … Fujii T (The Journal of steroid biochemistry and molecular biology 2015) 3 4 58
Products for NR1H3 Gene
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- GeneTex NR1H3 Antibody for NR1H3
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Sources for NR1H3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
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- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
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- (114) diseasecard
- (115) NIH Rare Diseases
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- (133) ENCODE
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- (135) Horizon
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- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt