This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear recepto... See more...

Aliases for NR1I3 Gene

Aliases for NR1I3 Gene

  • Nuclear Receptor Subfamily 1 Group I Member 3 2 3 4 5
  • Constitutive Androstane Receptor 2 3 4
  • Constitutive Activator Of Retinoid Response 3 4
  • Constitutive Active Response 3 4
  • Orphan Nuclear Receptor MB67 3 4
  • CAR 3 4
  • Constitutive Androstane Nuclear Receptor Variant 2 3
  • Constitutive Androstane Nuclear Receptor Variant 3 3
  • Constitutive Androstane Nuclear Receptor Variant 4 3
  • Constitutive Androstane Nuclear Receptor Variant 5 3
  • Nuclear Receptor Subfamily 1, Group I, Member 3 2
  • Orphan Nuclear Hormone Receptor 3
  • Constitutive Active Receptor 3
  • CAR1 3
  • MB67 3

External Ids for NR1I3 Gene

Previous GeneCards Identifiers for NR1I3 Gene

  • GC01M158910
  • GC01M156931
  • GC01M157978
  • GC01M158416
  • GC01M158012
  • GC01M159466
  • GC01M161199
  • GC01M132556

Summaries for NR1I3 Gene

Entrez Gene Summary for NR1I3 Gene

  • This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for NR1I3 Gene

NR1I3 (Nuclear Receptor Subfamily 1 Group I Member 3) is a Protein Coding gene. Diseases associated with NR1I3 include Kleefstra Syndrome 1 and Biliary Tract Disease. Among its related pathways are Gene Expression and Phenytoin Pathway, Pharmacokinetics. 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 NR1I2.

UniProtKB/Swiss-Prot Summary for NR1I3 Gene

  • Binds and transactivates the retinoic acid response elements that control expression of the retinoic acid receptor beta 2 and alcohol dehydrogenase 3 genes. Transactivates both the phenobarbital responsive element module of the human CYP2B6 gene and the CYP3A4 xenobiotic response element.

Tocris Summary for NR1I3 Gene

  • Vitamin D receptors (VDRs) are members of the NR1I family, which also includes pregnane X receptors (PXR) and constitutive androstane receptors (CAR). They form heterodimers with retinoid X receptor family members, and are expressed in the intestine, thyroid and kidney.

Gene Wiki entry for NR1I3 Gene

Additional gene information for NR1I3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NR1I3 Gene

Genomics for NR1I3 Gene

GeneHancer (GH) Regulatory Elements for NR1I3 Gene

Promoters and enhancers for NR1I3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J161237 Promoter/Enhancer 1.1 EPDnew ENCODE 500.7 +0.2 218 1.5 EP300 FOXK2 NCOR1 KDM6A TCF7 SKI TBX3 FOXA2 NR2F2 SAP130 NR1I3 lnc-APOA2-3 SDHC MPZ NECTIN4 NDUFS2 ADAMTS4
GH01J161388 Promoter/Enhancer 1.9 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 11.3 -151.2 -151202 2.3 ZBTB40 NRF1 TCF12 POLR2G SP1 PHF8 JUND FOS ZNF639 ZNF10 lnc-CFAP126-4 SDHC CFAP126 NR1I3 TOMM40L APOA2 MPZ FCRLA FCER1G ATF6
GH01J161304 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 11.4 -67.7 -67670 3.3 HNRNPK ZBTB40 CTCF ZBTB11 GABPA AFF1 TARDBP SAP30 TOE1 RUNX1 lnc-CFAP126-2 FCER1G NDUFS2 NR1I3 APOA2 TOMM40L PCP4L1 SDHC HSPA7 FCGR2C
GH01J161209 Enhancer 1 Ensembl ENCODE 12.4 +28.7 28692 1 CTCF SP1 ZBTB11 GABPA REST TGIF2 RAD21 TRIM22 ZKSCAN8 SMC3 NR1I3 CFAP126 SDHC NDUFS2 FCER1G ADAMTS4
GH01J161386 Enhancer 1.1 FANTOM5 Ensembl dbSUPER 11.3 -148.2 -148203 1.6 RELA MYC CTBP1 ZNF341 NFIC BCOR NR2F1 HDAC2 STAT1 ATF4 HSALNG0007937 SDHC ADAMTS4 NDUFS2 NR1I3 TOMM40L APOA2 MPZ FCRLA FCER1G
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NR1I3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NR1I3

Top Transcription factor binding sites by QIAGEN in the NR1I3 gene promoter:
  • aMEF-2
  • AP-1
  • ATF-2
  • CRE-BP1
  • CREB
  • MEF-2
  • MEF-2A
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for NR1I3 Gene

Genomic Locations for NR1I3 Gene
chr1:161,229,666-161,238,598
(GRCh38/hg38)
Size:
8,933 bases
Orientation:
Minus strand
chr1:161,199,456-161,208,092
(GRCh37/hg19)
Size:
8,637 bases
Orientation:
Minus strand

Genomic View for NR1I3 Gene

Genes around NR1I3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR1I3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR1I3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR1I3 Gene

Proteins for NR1I3 Gene

  • Protein details for NR1I3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14994-NR1I3_HUMAN
    Recommended name:
    Nuclear receptor subfamily 1 group I member 3
    Protein Accession:
    Q14994
    Secondary Accessions:
    • E9PB75
    • E9PC13
    • E9PDU3
    • E9PGH6
    • E9PH10
    • E9PHC8
    • E9PHN4
    • F1D8Q0
    • F1D8Q1
    • Q0VAC9
    • Q4U0F0
    • Q5VTW5
    • Q5VTW6
    • Q6GZ68
    • Q6GZ76
    • Q6GZ77
    • Q6GZ78
    • Q6GZ79
    • Q6GZ82
    • Q6GZ83
    • Q6GZ84
    • Q6GZ85
    • Q6GZ87
    • Q6GZ89

    Protein attributes for NR1I3 Gene

    Size:
    352 amino acids
    Molecular mass:
    39942 Da
    Quaternary structure:
    • Interacts with ECT2 (By similarity). Heterodimer of NR1I3 and RXR. Interacts with PSMC4. Directly interacts with DNAJC7. The DNAJC7-NR1I3 complex may also include HSP90 (By similarity). Interacts with CRY1 (By similarity). Interacts with CRY2 in a ligand-dependent manner (By similarity).

    Three dimensional structures from OCA and Proteopedia for NR1I3 Gene

neXtProt entry for NR1I3 Gene

Post-translational modifications for NR1I3 Gene

  • Phosphorylated at Thr-38 by PKC, dephosphorylation of Thr-38 is required for nuclear translocation and activation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NR1I3 Gene

Domains & Families for NR1I3 Gene

Gene Families for NR1I3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NR1I3 Gene

Blocks:
  • Steroid hormone receptor signature
  • Vitamin D receptor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NR1I3 Gene

GenScript: Design optimal peptide antigens:
  • Constitutive androstane receptor (B6ZGT2_HUMAN)
  • cDNA, FLJ79107, highly similar to Orphan nuclear receptor NR1I3 (B7Z8R7_HUMAN)
  • Constitutive androstane nuclear receptor variant 2 (F1D8Q0_HUMAN)
  • Constitutive androstane nuclear receptor variant 3 (F1D8Q1_HUMAN)
  • Constitutive androstane nuclear receptor (F1DAL4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14994

UniProtKB/Swiss-Prot:

NR1I3_HUMAN :
  • Composed by a short N-terminal domain followed by the DNA binding, hinge, and ligand binding/dimerization domains.
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Domain:
  • Composed by a short N-terminal domain followed by the DNA binding, hinge, and ligand binding/dimerization domains.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
genes like me logo Genes that share domains with NR1I3: view

Function for NR1I3 Gene

Molecular function for NR1I3 Gene

UniProtKB/Swiss-Prot Function:
Binds and transactivates the retinoic acid response elements that control expression of the retinoic acid receptor beta 2 and alcohol dehydrogenase 3 genes. Transactivates both the phenobarbital responsive element module of the human CYP2B6 gene and the CYP3A4 xenobiotic response element.
UniProtKB/Swiss-Prot Induction:
By dexamethasone.
GENATLAS Biochemistry:
nuclear receptor subfamily 1,group I,member 3,putatively heterodimerizing with RXR(s),expressed as several isoforms

Phenotypes From GWAS Catalog for NR1I3 Gene

Gene Ontology (GO) - Molecular Function for NR1I3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 11114890
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 11114890
GO:0003677 DNA binding TAS,IEA 9783588
genes like me logo Genes that share ontologies with NR1I3: view
genes like me logo Genes that share phenotypes with NR1I3: view

Animal Models for NR1I3 Gene

MGI Knock Outs for NR1I3:

Animal Model Products

CRISPR Products

miRNA for NR1I3 Gene

miRTarBase miRNAs that target NR1I3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR1I3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NR1I3 Gene

Localization for NR1I3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR1I3 Gene

Nucleus. Cytoplasm. Cytoplasm, cytoskeleton. Note=Recruited to the cytoplasm by DNAJC7. {ECO:0000250}.

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 NR1I3 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
peroxisome 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NR1I3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus ISS,IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with NR1I3: view

Pathways & Interactions for NR1I3 Gene

genes like me logo Genes that share pathways with NR1I3: view

SIGNOR curated interactions for NR1I3 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NR1I3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006629 lipid metabolic process IBA 21873635
GO:0007165 signal transduction TAS 8020947
genes like me logo Genes that share ontologies with NR1I3: view

Drugs & Compounds for NR1I3 Gene

(72) Drugs for NR1I3 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Meclizine Approved Pharma Antagonist, Target, inverse agonist, modulator 7
Clotrimazole Approved, Vet_approved Pharma Inhibition, Pore Blocker, Antagonist, Agonist, Gating inhibitor, Channel blocker, inhibitor 39
cholesterol Approved, Investigational Pharma Agonist, Target 0
Atorvastatin Approved Pharma Competitive, Inhibitor, Target, ligand 875
Doxylamine Approved, Vet_approved Pharma Target 9,9

(30) Additional Compounds for NR1I3 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Androstenol
  • (3alpha,5alpha)-Androst-16-en-3-ol
  • 3alpha-Hydroxyandrost-16-ene
  • Androst-16-en-3alpha-ol
  • (3a,5a)-Androst-16-en-3-ol
  • (3α,5α)-androst-16-en-3-ol
1153-51-1
1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Caproic alcohol
  • Hexanol
  • N-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Amyl alcohol, normal
  • Amylalkohol
71-41-0
Isobutanol
  • 1-Hydroxymethylpropane
  • 2-Methyl-1-propanol
  • 2-Methylpropanol
  • I-butanol
  • I-butyl alcohol
78-83-1
CINPA 1
102636-74-8

(4) Tocris Compounds for NR1I3 Gene

Compound Action Cas Number
CINPA 1 Potent CAR antagonist 102636-74-8
CITCO Selective CAR agonist 338404-52-7
S 07662 Inverse agonist of the constitutive androstane receptor (CAR) 883226-64-0
TCPOBOP Constitutive androstane receptor agonist 76150-91-9

(4) ApexBio Compounds for NR1I3 Gene

Compound Action Cas Number
Fexaramine 574013-66-4
GW3965 HLXRα/hLXRβ agonist,potent and selective 405911-09-3
LXR-623 Liver X-receptor agonist 875787-07-8
SR-9243 inverse agonist of LXR 1613028-81-1
genes like me logo Genes that share compounds with NR1I3: view

Drug Products

Transcripts for NR1I3 Gene

mRNA/cDNA for NR1I3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR1I3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NR1I3 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10
SP1: - -
SP2: - -
SP3: - - - -
SP4: - - -
SP5: - - - -
SP6: - - - - -
SP7:
SP8: - - - - -
SP9: - - - - - -
SP10: - - - - - - -
SP11: - - - - - - - -
SP12: - - - - - - - - -

Relevant External Links for NR1I3 Gene

GeneLoc Exon Structure for
NR1I3

Expression for NR1I3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NR1I3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NR1I3 Gene

This gene is overexpressed in Liver (x44.0).

Protein differential expression in normal tissues from HIPED for NR1I3 Gene

This gene is overexpressed in Fetal gut (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NR1I3 Gene



Protein tissue co-expression partners for NR1I3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NR1I3

SOURCE GeneReport for Unigene cluster for NR1I3 Gene:

Hs.349642

mRNA Expression by UniProt/SwissProt for NR1I3 Gene:

Q14994-NR1I3_HUMAN
Tissue specificity: Predominantly expressed in liver.

Evidence on tissue expression from TISSUES for NR1I3 Gene

  • Liver(4.8)
  • Intestine(4.4)
  • Eye(4)
genes like me logo Genes that share expression patterns with NR1I3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NR1I3 Gene

Orthologs for NR1I3 Gene

This gene was present in the common ancestor of animals.

Orthologs for NR1I3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NR1I3 31 30
  • 99.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NR1I3 31 30
  • 86.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NR1I3 30
  • 86.14 (n)
CAR 31
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nr1i3 30
  • 81.57 (n)
mouse
(Mus musculus)
Mammalia Nr1i3 17 31 30
  • 80.75 (n)
oppossum
(Monodelphis domestica)
Mammalia NR1I3 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves NR1I3 31 30
  • 62.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NR1I3 31
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta EcR 31
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 21 (a)
OneToMany
Species where no ortholog for NR1I3 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for NR1I3 Gene

ENSEMBL:
Gene Tree for NR1I3 (if available)
TreeFam:
Gene Tree for NR1I3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NR1I3: view image

Paralogs for NR1I3 Gene

(57) SIMAP similar genes for NR1I3 Gene using alignment to 22 proteins:

  • NR1I3_HUMAN
  • B6ZGT2_HUMAN
  • B7Z8R7_HUMAN
  • C0H5Y2_HUMAN
  • D6REZ7_HUMAN
  • E9PB75_HUMAN
  • E9PC13_HUMAN
  • E9PCF2_HUMAN
  • E9PDU3_HUMAN
  • E9PHC8_HUMAN
  • F1DAL4_HUMAN
  • Q6GZ69_HUMAN
  • Q6GZ70_HUMAN
  • Q6GZ72_HUMAN
  • Q6GZ74_HUMAN
  • Q6GZ75_HUMAN
  • Q6GZ76_HUMAN
  • Q6GZ79_HUMAN
  • Q6GZ81_HUMAN
  • Q6GZ82_HUMAN
  • Q6GZ88_HUMAN
  • Q6GZ89_HUMAN
genes like me logo Genes that share paralogs with NR1I3: view

Variants for NR1I3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NR1I3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
735350 Likely Benign: not provided 161,232,929(-) G/A SYNONYMOUS_VARIANT
741957 Likely Benign: not provided 161,233,209(-) C/T MISSENSE_VARIANT
rs143067018 Uncertain Significance: not provided 161,232,814(-) C/T MISSENSE_VARIANT
rs147849659 Benign: not specified 161,229,789(-) G/A THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs148277311 Likely Benign: not specified 161,235,903(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NR1I3 Gene

Variation tolerance for NR1I3 Gene

Residual Variation Intolerance Score: 71.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NR1I3 Gene

Human Gene Mutation Database (HGMD)
NR1I3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR1I3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NR1I3 Gene

Disorders for NR1I3 Gene

MalaCards: The human disease database

(24) MalaCards diseases for NR1I3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
kleefstra syndrome 1
  • klefs1
biliary tract disease
  • biliary tract abnormality
neonatal jaundice
  • neonatal hyperbilirubinemia
cholestasis
  • bile occlusion
secondary hyperparathyroidism
  • hyperparathyroidism secondary
- elite association - COSMIC cancer census association via MalaCards
Search NR1I3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NR1I3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NR1I3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NR1I3 Gene

Publications for NR1I3 Gene

  1. Dephosphorylation of threonine 38 is required for nuclear translocation and activation of human xenobiotic receptor CAR (NR1I3). (PMID: 19858220) Mutoh S … Negishi M (The Journal of biological chemistry 2009) 3 4 23 54
  2. Lack of association of single-nucleotide polymorphisms in pregnane X receptor, hepatic nuclear factor 4alpha, and constitutive androstane receptor with docetaxel pharmacokinetics. (PMID: 18056193) Tham LS … Goh BC (Clinical cancer research : an official journal of the American Association for Cancer Research 2007) 3 23 41 54
  3. Expression of constitutive androstane receptor splice variants in human tissues and their functional consequences. (PMID: 15194709) Lamba JK … Schuetz E (The Journal of pharmacology and experimental therapeutics 2004) 3 4 23 54
  4. A new orphan member of the nuclear hormone receptor superfamily that interacts with a subset of retinoic acid response elements. (PMID: 8114692) Baes M … Moore DD (Molecular and cellular biology 1994) 2 3 4 54
  5. Constitutive androstane receptor transcriptionally activates human CYP1A1 and CYP1A2 genes through a common regulatory element in the 5'-flanking region. (PMID: 19682433) Yoshinari K … Yamazoe Y (Biochemical pharmacology 2010) 3 23 54

Products for NR1I3 Gene