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Aliases for NR1H3 Gene

Aliases for NR1H3 Gene

  • Nuclear Receptor Subfamily 1, Group H, Member 3 2 3
  • LXRA 3 4
  • Nuclear Receptor Subfamily 1 Group H Member 3 4
  • Liver X Nuclear Receptor Alpha Variant 1 3
  • Oxysterols Receptor LXR-Alpha 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. Diseases associated with NR1H3 include myxoid liposarcoma and thyroid hormone resistance. Among its related pathways are Gene Expression and Gene Expression. GO annotations related to this gene include sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is NR1I2.

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).

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; LXRalpha and LXRbeta, and FXRalpha and FXRbeta (pseudogene in man). LXRalpha and FXRalpha expression is restricted to the liver, small intestine, kidney and adrenal gland, whilst LXRbeta and FXRbeta are ubiquitously expressed. Despite acting on some of the same target genes, including cholesterol 7alpha-hydroxylase (CYP7A1) and SREBP-1c, LXRs and FXRs have different physiological roles. LXRs are involved in cholesterol homeostasis, inhibition of proinflammatory gene expression in atherosclerosis and activation of innate immunity, whilst FXRs have a vital function in bile acid homeostasis.

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

Genomic Location for NR1H3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

    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

Antibody Products

  • R&D Systems Antibodies for NR1H3 (LXR alpha/NR1H3)

No data available for DME Specific Peptides for NR1H3 Gene

Domains for NR1H3 Gene

Gene Families for NR1H3 Gene

HGNC:
  • NR :Nuclear hormone receptors
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

Q13133

UniProtKB/Swiss-Prot:

NR1H3_HUMAN :
  • Q13133
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).
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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription --
GO:0003677 DNA binding TAS 7744246
GO:0003700 sequence-specific DNA binding transcription factor activity --
GO:0003707 steroid hormone receptor 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

miRNA for NR1H3 Gene

miRTarBase miRNAs that target NR1H3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 4
peroxisome 2
extracellular 1

Gene Ontology (GO) - Cellular Components for NR1H3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 18511497
GO:0005634 nucleus TAS 7744246
GO:0005654 nucleoplasm TAS --
GO:0043235 receptor complex IDA 18511497
GO:0090575 RNA polymerase II transcription factor complex IDA 18511497
genes like me logo Genes that share ontologies with NR1H3: view

Pathways for NR1H3 Gene

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

PCR Array Products

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:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with NR1H3: view

Compounds for NR1H3 Gene

(3) Tocris Compounds for NR1H3 Gene

Compound Action Cas Number
Fexaramine Potent, selective farnesoid X receptor (FXR) agonist [574013-66-4]
GW 3965 hydrochloride Orally active liver X receptor (LXR) agonist [405911-17-3]
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]

(9) IUPHAR Ligand for NR1H3 Gene

Ligand Type Action Affinity Pubmed IDs
acetyl-podocarpic dimer Agonist Agonist 9
L-783483 Agonist Agonist 8.2
GW3965 Agonist Agonist 7.52
T0901317 Agonist Agonist 7.3
27-hydroxycholesterol Agonist Agonist 7.15
24(S), 25-epoxycholesterol Agonist Agonist 5.52
22R-hydroxycholesterol Agonist Agonist 5.52
24(S)-hydroxycholesterol Agonist Agonist 5.5
paxilline Agonist Agonist 5.4

(14) Novoseek inferred chemical compound relationships for NR1H3 Gene

Compound -log(P) Hits PubMed IDs
sterol 82.3 16
cholesterol 76 47
cholesterol ester 65.4 1
lipid 63.8 26
lanosterol 60.4 2

(2) PharmGKB related drug/compound annotations for NR1H3 Gene

Drug/compound Annotation
atenolol CA
verapamil CA
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NR1H3

Primer Products

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for NR1H3 Gene

This gene is overexpressed in Liver (4.2).

Protein differential expression in normal tissues for NR1H3 Gene

This gene is overexpressed in Stomach (69.0).

Integrated Proteomics: protein expression 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 expressions with NR1H3: view

Expression partners for NR1H3 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
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

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 MAF
rs326213 -- 47,265,445(+) TCTGA(A/C)AAAGC intron-variant
rs326220 -- 47,258,459(-) TCTCT(C/T)GGGCC intron-variant
rs2279238 -- 47,260,473(-) CACAC(A/G)CTGCA reference, synonymous-codon, intron-variant
rs2279239 -- 47,260,229(-) ACTGT(A/G)TGAGC intron-variant
rs2596400 -- 47,255,599(+) tttct(C/T)tctct intron-variant

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

Variant ID Type Subtype PubMed ID
nsv897323 CNV Loss 21882294

Relevant External Links for NR1H3 Gene

HapMap Linkage Disequilibrium report
NR1H3
Human Gene Mutation Database (HGMD)
NR1H3

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

Disorders for NR1H3 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for NR1H3 Gene in MalaCards »

(2) Diseases for NR1H3 Gene including...

(1) University of Copenhagen DISEASES for NR1H3 Gene

(5) Novoseek inferred disease relationships for NR1H3 Gene

Disease -log(P) Hits PubMed IDs
inflammation 32.8 10
cardiovascular diseases 11.8 2
coronary heart disease 7.52 1
necrosis 0 2
tumors 0 2

Relevant External Links for NR1H3

Genetic Association Database (GAD)
NR1H3
Human Genome Epidemiology (HuGE) Navigator
NR1H3
genes like me logo Genes that share disorders with NR1H3: view

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

Publications for NR1H3 Gene

  1. 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 M.C. (Br. J. Nutr. 2007) 3 23 48
  2. Association between liver X receptor alpha gene polymorphisms and risk of metabolic syndrome in French populations. (PMID: 18209740) Legry V. … Meirhaeghe A. (Int J Obes (Lond) 2008) 3 23 48
  3. Functional and genetic analysis in type 2 diabetes of liver X receptor alleles--a cohort study. (PMID: 19292929) Dahlman I. … Steffensen K.R. (BMC Med. Genet. 2009) 3 23 48
  4. 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
  5. Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. (PMID: 18636124) Skibola C.F. … Smith M.T. (PLoS ONE 2008) 3 48

Products for NR1H3 Gene

Sources for NR1H3 Gene

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