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Aliases for NR1H3 Gene

Aliases for NR1H3 Gene

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

External Ids for NR1H3 Gene

Previous GeneCards Identifiers for NR1H3 Gene

  • GC11P049220
  • GC11P048157
  • GC11P047302
  • GC11P047245
  • GC11P047243
  • GC11P047236
  • 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. Among its related pathways are Gene Expression and Nuclear Receptor transcription pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription coactivator activity. An important paralog of this gene is NR4A2.

UniProtKB/Swiss-Prot for NR1H3 Gene

  • Nuclear receptor. Interaction with 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. LXRES are DR4-type response elements characterized by direct repeats of two similar hexanuclotide half-sites spaced by four nucleotides. Plays an important role in the regulation of cholesterol homeostasis, regulating cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8. Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Exhibits a ligand-dependent transcriptional activation activity (PubMed:25661920).

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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NR1H3 Gene

Genomics for NR1H3 Gene

Regulatory Elements for NR1H3 Gene

Enhancers for NR1H3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NR1H3 on UCSC Golden Path with GeneCards custom track

Promoters for NR1H3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NR1H3 on UCSC Golden Path with GeneCards custom track

Genomic Location for NR1H3 Gene

Chromosome:
11
Start:
47,248,300 bp from pter
End:
47,269,033 bp from pter
Size:
20,734 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 StructureGene 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
    Secondary Accessions:
    • A8K3J9
    • D3DQR1
    • Q8IW13
    • Q96H87

    Protein attributes for NR1H3 Gene

    Size:
    447 amino acids
    Molecular mass:
    50396 Da
    Quaternary structure:
    • Heterodimer of LXRA and RXR. Interacts with CCAR2 (via N-terminus) in a ligand-independent manner. Interacts with SIRT1 and this interaction is inhibited by CCAR2.

    Three dimensional structures from OCA and Proteopedia for NR1H3 Gene

    Alternative splice isoforms for NR1H3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR1H3 Gene

Proteomics data for NR1H3 Gene at MOPED

Post-translational modifications for NR1H3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NR1H3 Gene

Domains & Families for NR1H3 Gene

Gene Families for NR1H3 Gene

Graphical View of Domain Structure for InterPro Entry

Q13133

UniProtKB/Swiss-Prot:

NR1H3_HUMAN :
  • Contains 1 nuclear receptor DNA-binding domain.
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.
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

Molecular function for NR1H3 Gene

UniProtKB/Swiss-Prot Function:
Nuclear receptor. Interaction with 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. LXRES are DR4-type response elements characterized by direct repeats of two similar hexanuclotide half-sites spaced by four nucleotides. Plays an important role in the regulation of cholesterol homeostasis, regulating cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8. Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Exhibits a ligand-dependent transcriptional activation activity (PubMed:25661920).
UniProtKB/Swiss-Prot Induction:
By 9-cis retinoic acid (9CRA).

Gene Ontology (GO) - Molecular Function for NR1H3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 12040021
GO:0032810 sterol response element binding IDA 19628791
GO:0046982 protein heterodimerization activity IEA --
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 Model Products

  • Taconic Biosciences Mouse Models for NR1H3

miRNA for NR1H3 Gene

miRTarBase miRNAs that target NR1H3

Flow Cytometry Products

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NR1H3 Gene COMPARTMENTS Subcellular localization image for NR1H3 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2
peroxisome 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NR1H3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090575 RNA polymerase II transcription factor complex IEA,IDA 18511497
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

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 from RNA polymerase II promoter ISS --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006629 lipid metabolic process IEA --
genes like me logo Genes that share ontologies with NR1H3: view

Drugs & Compounds for NR1H3 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atenolol Approved Pharma Antagonist 99
Verapamil Approved Pharma Channel blocker 122
(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
N-(2,2,2-TRIFLUOROETHYL)-N-{4-[2,2,2-TRIFLUORO-1-HYDROXY-1-(TRIFLUOROMETHYL)ETHYL]PHENYL}BENZENESULFONAMIDE Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
DY 268
1609564-75-1
GW 3965 hydrochloride
405911-17-3
GW 4064
278779-30-9

(5) Tocris Compounds for NR1H3 Gene

Compound Action Cas Number
DY 268 Potent FXR antagonist 1609564-75-1
Fexaramine Potent, selective farnesoid X receptor (FXR) agonist 574013-66-4
GW 3965 hydrochloride Orally active liver X receptor (LXR) agonist 405911-17-3
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

(2) ApexBio Compounds for NR1H3 Gene

Compound Action Cas Number
GW3965 HCl 405911-17-3
T0901317 Liver X receptor agonist,potent and selective 293754-55-9
genes like me logo Genes that share compounds with NR1H3: view

Transcripts for NR1H3 Gene

Unigene Clusters for NR1H3 Gene

Nuclear receptor subfamily 1, group H, member 3:
Representative Sequences:

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
ECgene alternative splicing isoforms for
NR1H3

Expression for NR1H3 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for NR1H3 Gene



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.
genes like me logo Genes that share expression patterns with NR1H3: view

Protein tissue co-expression partners for NR1H3 Gene

Primer Products

Orthologs for NR1H3 Gene

This gene was present in the common ancestor of animals.

Orthologs for NR1H3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NR1H3 35
  • 90.31 (n)
  • 92.39 (a)
NR1H3 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR1H3 35
  • 91.5 (n)
  • 92.17 (a)
NR1H3 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr1h3 35
  • 88.39 (n)
  • 91.91 (a)
Nr1h3 16
Nr1h3 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NR1H3 35
  • 99.63 (n)
  • 100 (a)
NR1H3 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nr1h3 35
  • 88.76 (n)
  • 92.13 (a)
oppossum
(Monodelphis domestica)
Mammalia NR1H3 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR1H3 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves NR1H3 35
  • 75.04 (n)
  • 80.31 (a)
LXR 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NR1H3 36
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii nr1h3 35
  • 74 (n)
  • 78.53 (a)
nr1h3 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta EcR 37
  • 40 (a)
EcR 36
  • 19 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5106 35
Species with no ortholog for NR1H3:
  • 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)

Paralogs for NR1H3 Gene

Paralogs for NR1H3 Gene

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

Variants for NR1H3 Gene

Sequence variations from dbSNP and Humsavar for NR1H3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs41481445 - 47,259,902(+) TGGGG(C/G/T)TACTG intron-variant, reference, missense
rs2279238 -- 47,260,473(-) CACAC(A/G)CTGCA intron-variant, reference, synonymous-codon
rs2279239 -- 47,260,229(-) ACTGT(A/G)TGAGC intron-variant
rs7119736 -- 47,266,150(+) AATAA(C/G)TAAGG intron-variant
rs7120118 -- 47,264,739(+) TTTCT(C/T)ATTTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv897323 CNV Loss 21882294

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)

Relevant External Links for NR1H3 Gene

Human Gene Mutation Database (HGMD)
NR1H3

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

Disorders for NR1H3 Gene

Relevant External Links for NR1H3

Genetic Association Database (GAD)
NR1H3
Human Genome Epidemiology (HuGE) Navigator
NR1H3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NR1H3

No disorders were found for NR1H3 Gene.

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

Publications for NR1H3 Gene

  1. LXR, a nuclear receptor that defines a distinct retinoid response pathway. (PMID: 7744246) Willy P.J. … Mangelsdorf D.J. (Genes Dev. 1995) 2 3 4 67
  2. Psoriasis: crucial role of LXR-alpha RNomics. (PMID: 19798078) Gupta D.S. … Parsad D. (Genes Immun. 2010) 3 23
  3. Liver X receptor in cholesterol metabolism. (PMID: 19837721) Zhao C. … Dahlman-Wright K. (J. Endocrinol. 2010) 3 23
  4. Tumor-mediated liver X receptor-alpha activation inhibits CC chemokine receptor-7 expression on dendritic cells and dampens antitumor responses. (PMID: 20037595) Villablanca E.J. … Russo V. (Nat. Med. 2010) 3 23
  5. TGF-beta1 up-regulates expression of ABCA1, ABCG1 and SR-BI through liver X receptor alpha signaling pathway in THP-1 macrophage-derived foam cells. (PMID: 20057170) Hu Y.W. … Tang C.K. (J. Atheroscler. Thromb. 2010) 3 23

Products for NR1H3 Gene

Sources for NR1H3 Gene

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