NR1H3 Gene (Protein Coding)

Nuclear Receptor Subfamily 1 Group H Member 3

GC11P047248
GIFtS:
48
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... See more...

Aliases for NR1H3 Gene

Aliases for NR1H3 Gene

  • Nuclear Receptor Subfamily 1 Group H Member 3 2 3 4 5
  • Oxysterols Receptor LXR-Alpha 3 4
  • LXR-A 2 3
  • RLD-1 2 3
  • LXRA 3 4
  • Nuclear Receptor Subfamily 1, Group H, Member 3 2
  • Liver X Nuclear Receptor Alpha Variant 1 3
  • Liver X Receptor-Alpha 2
  • Liver X Receptor Alpha 4
  • NR1H3 5
  • LXRa 2

External Ids for NR1H3 Gene

Previous GeneCards Identifiers for NR1H3 Gene

  • GC11P049220
  • GC11P048157
  • GC11P047302
  • GC11P047245
  • GC11P047243
  • GC11P047236
  • GC11P047269
  • GC11P046969

Summaries for NR1H3 Gene

Entrez Gene Summary 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 Insulin resistance and Gene Expression. 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 Summary 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). Induces LPCAT3-dependent phospholipid remodeling in endoplasmic reticulum (ER) membranes of hepatocytes, driving SREBF1 processing and lipogenesis (By similarity). Via LPCAT3, triggers the incorporation of arachidonate into phosphatidylcholines of ER membranes, increasing membrane dynamics and enabling triacylglycerols transfer to nascent very low-density lipoprotein (VLDL) particles. Via LPCAT3 also counteracts lipid-induced ER stress response and inflammation, likely by modulating SRC kinase membrane compartmentalization and limiting the synthesis of lipid inflammatory mediators (By similarity).

Tocris Summary for NR1H3 Gene

  • 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.

Gene Wiki entry for NR1H3 Gene

Additional gene information for NR1H3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NR1H3 Gene

Genomics for NR1H3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NR1H3

Top Transcription factor binding sites by QIAGEN in the NR1H3 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for NR1H3 Gene

Latest Assembly
chr11:47,248,300-47,269,033
(GRCh38/hg38)
Size:
20,734 bases
Orientation:
Plus strand

Previous Assembly
chr11:47,269,851-47,290,584
(GRCh37/hg19 by Entrez Gene)
Size:
20,734 bases
Orientation:
Plus strand

chr11:47,269,851-47,290,396
(GRCh37/hg19 by Ensembl)
Size:
20,546 bases
Orientation:
Plus strand

Genomic View for NR1H3 Gene

Genes around NR1H3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR1H3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR1H3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NR1H3 Gene

Proteins for NR1H3 Gene

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  • Protein details for NR1H3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13133-NR1H3_HUMAN
    Recommended name:
    Oxysterols receptor LXR-alpha
    Protein Accession:
    Q13133
    Secondary Accessions:
    • 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

    Alternative splice isoforms for NR1H3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR1H3 Gene

Protein Expression for NR1H3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NR1H3 Gene

  • Ubiquitinated leading to its degradation by the proteasome.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NR1H3 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
  • Steroid hormone receptor signature

Suggested Antigen Peptide Sequences for NR1H3 Gene

GenScript: Design optimal peptide antigens:
  • Liver X receptor alpha (B6ZGS8_HUMAN)
  • Liver X nuclear receptor alpha variant 1 (F1D8N1_HUMAN)
  • Nuclear receptor subfamily 1 group H member 3 (NR1H3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13133

UniProtKB/Swiss-Prot:

NR1H3_HUMAN :
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
genes like me logo Genes that share domains with NR1H3: view

Function for NR1H3 Gene

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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). Induces LPCAT3-dependent phospholipid remodeling in endoplasmic reticulum (ER) membranes of hepatocytes, driving SREBF1 processing and lipogenesis (By similarity). Via LPCAT3, triggers the incorporation of arachidonate into phosphatidylcholines of ER membranes, increasing membrane dynamics and enabling triacylglycerols transfer to nascent very low-density lipoprotein (VLDL) particles. Via LPCAT3 also counteracts lipid-induced ER stress response and inflammation, likely by modulating SRC kinase membrane compartmentalization and limiting the synthesis of lipid inflammatory mediators (By similarity).
UniProtKB/Swiss-Prot Induction:
By 9-cis retinoic acid (9CRA).

Phenotypes From GWAS Catalog for NR1H3 Gene

Gene Ontology (GO) - Molecular Function for NR1H3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 contributes_to transcription regulatory region sequence-specific DNA binding IDA 18511497
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA,TAS 7744246
genes like me logo Genes that share ontologies with NR1H3: view
genes like me logo Genes that share phenotypes with NR1H3: view

Animal Models for NR1H3 Gene

MGI Knock Outs for NR1H3:

Animal Models for research

  • Taconic Biosciences Mouse Models for NR1H3

miRNA for NR1H3 Gene

miRTarBase miRNAs that target NR1H3

Inhibitory RNAs for research

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Clone products for research

  • Addgene plasmids 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. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NR1H3 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NR1H3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA,ISA --
GO:0005634 nucleus IEA,IDA 25661920
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with NR1H3: view

Pathways & Interactions for NR1H3 Gene

genes like me logo Genes that share pathways with NR1H3: view

SIGNOR curated interactions for NR1H3 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NR1H3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006629 lipid metabolic process IEA --
GO:0010745 negative regulation of macrophage derived foam cell differentiation IC 17693624
genes like me logo Genes that share ontologies with NR1H3: view

Drugs & Compounds for NR1H3 Gene

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(29) Drugs for NR1H3 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Diacerein Approved, Investigational Pharma Target, inhibitor 0
Atenolol Approved Pharma 120
Verapamil Approved Pharma 145
(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

(8) Additional Compounds for NR1H3 Gene - From: Novoseek and Tocris

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

(6) ApexBio Compounds for NR1H3 Gene

Compound Action Cas Number
Fexaramine 574013-66-4
GW3965 HLXRα/hLXRβ agonist,potent and selective 405911-09-3
GW3965 HCl 405911-17-3
LXR-623 Liver X-receptor agonist 875787-07-8
SR-9243 inverse agonist of LXR 1613028-81-1
T0901317 Liver X receptor agonist,potent and selective 293754-55-9
genes like me logo Genes that share compounds with NR1H3: view

Drug products for research

Transcripts for NR1H3 Gene

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mRNA/cDNA for NR1H3 Gene

6 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
35 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR1H3

Clone products for research

  • Addgene plasmids for NR1H3

Alternative Splicing Database (ASD) splice patterns (SP) for NR1H3 Gene

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:

Relevant External Links for NR1H3 Gene

GeneLoc Exon Structure for
NR1H3

Expression for NR1H3 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NR1H3 Gene

mRNA expression in normal human tissues for NR1H3 Gene
mRNA expression by GTEx for NR1H3 GenemRNA expression by BioGPS 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).

Protein differential expression in normal tissues from HIPED for NR1H3 Gene

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



Protein tissue co-expression partners for NR1H3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NR1H3

SOURCE GeneReport for Unigene cluster for NR1H3 Gene:

Hs.438863

mRNA 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(4.5)
  • Heart(4.4)
  • Intestine(2.6)
  • Spleen(2.5)
  • Lymph node(2.4)
  • Kidney(2.4)
  • Gall bladder(2.4)
  • Muscle(2.4)
  • Thyroid gland(2.2)
  • Adrenal gland(2.1)
  • Skin(2.1)
  • Pancreas(2.1)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with NR1H3: view

Primer products for research

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.

Orthologs for NR1H3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NR1H3 29 30
  • 99.63 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NR1H3 29 30
  • 91.5 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NR1H3 29 30
  • 90.31 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Nr1h3 29
  • 88.76 (n)
Mouse
(Mus musculus)
 Mammalia Nr1h3 29 16 30
  • 88.39 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia NR1H3 30
  • 82 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia NR1H3 30
  • 73 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves LXR 30
  • 77 (a)
 OneToOne
NR1H3 29
  • 75.04 (n)
Lizard
(Anolis carolinensis)
 Reptilia NR1H3 30
  • 76 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii nr1h3 29 30
  • 74 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta EcR 30 31
  • 19 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.5106 29
Species where no ortholog for NR1H3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Squirt (Ciona savignyi)
  • 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
Alliance of Genome Resources:
Additional Orthologs for NR1H3

Paralogs for NR1H3 Gene

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
genes like me logo Genes that share paralogs with NR1H3: view

Variants for NR1H3 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NR1H3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs2167079 Benign: not provided 47,248,704(+) C/T
NM_001610.4(ACP2):c.86G>A (p.Arg29Gln) 		MISSENSE_VARIANT,FIVE_PRIME_UTR
rs34974176 Likely Benign: not provided 47,260,509(+) T/C
NM_005693.4(NR1H3):c.333T>C (p.Asn111=) 		SYNONYMOUS
rs41275182 Likely Benign: not provided 47,248,762(+) G/A
NM_001610.4(ACP2):c.28C>T (p.Arg10Trp) 		MISSENSE_VARIANT,FIVE_PRIME_UTR
rs41481445 Benign: not provided 47,259,902(+) G/Tp.Gly52Val
NM_005693.4(NR1H3):c.155G>T (p.Gly52Val) 		MISSENSE
rs61731956 Pathogenic: Multiple sclerosis 47,268,596(+) G/A
NM_005693.4(NR1H3):c.1244G>A (p.Arg415Gln) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NR1H3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NR1H3 Gene

Variant ID Type Subtype PubMed ID
esv3626200 CNV loss 21293372

Variation tolerance for NR1H3 Gene

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

Human Gene Mutation Database (HGMD)
NR1H3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR1H3
Leiden Open Variation Database (LOVD)
NR1H3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR1H3 Gene

Disorders for NR1H3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for NR1H3 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
multiple sclerosis
  • multiple sclerosis, susceptibility to
cerebrotendinous xanthomatosis
  • ctx
non-alcoholic fatty liver disease
  • nafld
fatty liver disease
  • alcoholic fatty liver
xanthomatosis
  • xanthomatosis, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search NR1H3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NR1H3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NR1H3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NR1H3 Gene

Publications for NR1H3 Gene

  1. 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 40
  2. 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 40
  3. 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 40
  4. LXR, a nuclear receptor that defines a distinct retinoid response pathway. (PMID: 7744246) Willy PJ … Mangelsdorf DJ (Genes & development 1995) 2 3 4
  5. Nuclear Receptor NR1H3 in Familial Multiple Sclerosis. (PMID: 27253448) Wang Z … Vilariño-Güell C (Neuron 2016) 3 72

ExternalLinks

View latest publications for NR1H3 gene in Mastermind

Products for NR1H3 Gene

  • Addgene plasmids for NR1H3

Sources for NR1H3 Gene