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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NR1I3 Gene

protein-coding GIFtS: 65
GCID: GC01M161199

Nuclear Receptor Subfamily 1, Group I, Member 3

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Nuclear Receptor Subfamily 1, Group I, Member 3¹ ²		Constitutive Active Receptor²
Constitutive Androstane Receptor¹ ² ³		Constitutive Androstane Nuclear Receptor Variant 2²
Constitutive Activator Of Retinoid Response² ³		Constitutive Androstane Nuclear Receptor Variant 3²
Constitutive Active Response² ³		Constitutive Androstane Nuclear Receptor Variant 4²
Orphan Nuclear Receptor MB67² ³		Constitutive Androstane Nuclear Receptor Variant 5²
CAR² ³		Nuclear Receptor Subfamily 1 Group I Member 3²
CAR1²		Orphan Nuclear Hormone Receptor²
MB67²

External Ids:	HGNC: 7969¹	Entrez Gene: 9970²	Ensembl: ENSG00000143257⁷	OMIM: 603881⁵	UniProtKB: Q14994³

Export aliases for NR1I3 gene to outside databases

Previous GC identifers: GC01M158910 GC01M156931 GC01M157978 GC01M158416 GC01M158012 GC01M159466 GC01M132556

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 familial hypocalciuric hypercalcemia, and hyperparathyroidism, and among its related super-pathways are Nuclear Receptors and Gene Expression. GO annotations related to this gene include transcription coactivator activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is VDR.

UniProtKB/Swiss-Prot: NR1I3_HUMAN, Q14994

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

summary for NR1I3 Gene:

Vitamin D receptors (VDRs) are members of the NR1I family, which also includes pregnane X (PXR) and

constitutive androstane (CAR) receptors, that form heterodimers with members of the retinoid X receptor

family. VDR is expressed in the intestine, thyroid and kidney.

Gene Wiki entry for NR1I3 (Constitutive androstane receptor) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NT_004487.19 NC_018912.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NR1I3 gene promoter:
AP-1 ATF-2 MEF-2 CRE-BP1 PPAR-alpha CREB MEF-2A PPAR-gamma1 PPAR-gamma2 aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NR1I3 promoter sequence

Search SABiosciences Chromatin IP Primers for NR1I3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NR1I3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q23.3 Ensembl cytogenetic band: 1q23.3 HGNC cytogenetic band: 1q23.3

NR1I3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR1I3 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M161199: view genomic region (about GC identifiers)

Start:	161,199,456 bp from pter	End:	161,208,092 bp from pter
Size:	8,637 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NR1I3_HUMAN, Q14994 (See protein sequence)

Recommended Name: Nuclear receptor subfamily 1 group I member 3

Size: 352 amino acids; 39942 Da

Subunit: 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)

Subcellular location: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton. Note=Recruited to the cytoplasm by DNAJC7 (By

similarity)

2 PDB 3D structures from and Proteopedia for NR1I3:

1XV9 (3D)

1XVP (3D)

Secondary accessions: E9PGH6 E9PH10 E9PHN4 F1D8Q0 F1D8Q1 Q0VAC9 Q4U0F0 Q5VTW5 Q5VTW6 Q6GZ68

Q6GZ77 Q6GZ78 Q6GZ83 Q6GZ84 Q6GZ85 Q6GZ87

Alternative splicing: 11 isoforms: Q14994-1 Q14994-2 Q14994-3 Q14994-4 Q14994-5 Q14994-6 Q14994-7 Q14994-8

Q14994-9 Q14994-10 Q14994-11

Explore the universe of human proteins at neXtProt for NR1I3: NX_Q14994

Explore proteomics data for NR1I3 at MOPED

Post-translational modifications:

UniProtKB: Phosphorylated at Thr-38 by PKC, dephosphorylation of Thr-38 is required for nuclear translocation and activation

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q14994

NR1I3 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (15 alternative transcripts):

NP_001070937.1 NP_001070938.1 NP_001070939.1 NP_001070940.1 NP_001070941.1 NP_001070942.1 NP_001070943.1 NP_001070944.1

NP_001070945.1 NP_001070946.1 NP_001070947.1 NP_001070948.1 NP_001070949.1 NP_001070950.1 NP_005113.1

ENSEMBL proteins:

ENSP00000425417 ENSP00000356962 ENSP00000407446 ENSP00000406493 ENSP00000399361

ENSP00000412672 ENSP00000424934 ENSP00000423666 ENSP00000356961 ENSP00000424834

ENSP00000422982 ENSP00000424345 ENSP00000427175 ENSP00000421374 ENSP00000423007

ENSP00000425607 ENSP00000356960 ENSP00000426016 ENSP00000421588 ENSP00000425900

ENSP00000426292 ENSP00000427600 ENSP00000356963 ENSP00000356965 ENSP00000356958

ENSP00000423089 ENSP00000427034 ENSP00000356959

Reactome Protein details: Q14994
Human Recombinant Protein Products for NR1I3:

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	Browse Proteins at Cloud-Clone Corp.

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	ISS	--
GO:0005654	nucleoplasm	TAS	--
GO:0005737	cytoplasm	ISS	--
GO:0005829	cytosol	IEA	--
GO:0005856	cytoskeleton	IEA	--

NR1I3 for ontologies About GeneDecksing

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	Novus Biologicals NR1I3 Antibodies
	Abcam antibodies for NR1I3
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	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

NR: Nuclear hormone receptors

IUPHAR Guide to PHARMACOLOGY protein family classification: Constitutive androstane receptor

1I. Vitamin D receptor-like receptors

5/6 InterPro protein domains (see all 6):

IPR008946 Nucl_hormone_rcpt_ligand-bd

IPR001723 Str_hrmn_rcpt

IPR001728 ThyrH_rcpt

IPR013088 Znf_NHR/GATA

IPR000536 Nucl_hrmn_rcpt_lig-bd_core

Graphical View of Domain Structure for InterPro Entry Q14994

ProtoNet protein and cluster: Q14994

2 Blocks protein domains:

IPB000324 Vitamin D receptor signature

IPB001723 Steroid hormone receptor signature

UniProtKB/Swiss-Prot: NR1I3_HUMAN, Q14994

Domain: Composed by a short N-terminal domain followed by the DNA binding, hinge, and ligand binding/dimerization

domains

Similarity: Belongs to the nuclear hormone receptor family. NR1 subfamily

Similarity: Contains 1 nuclear receptor DNA-binding domain

NR1I3 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: NR1I3_HUMAN, Q14994

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

Induction: By dexamethasone

Genatlas biochemistry entry for NR1I3:

nuclear receptor subfamily 1,group I,member 3,putatively heterodimerizing with RXR(s),expressed as several

isoforms

Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	TAS	9783588
GO:0003700	sequence-specific DNA binding transcription factor activity	TAS	8020947
GO:0003707	steroid hormone receptor activity	--	--
GO:0003713	transcription coactivator activity	TAS	9783588
GO:0004879	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity	TAS	8114692

NR1I3 for ontologies About GeneDecksing

Phenotypes:
6 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Nr1i3):

cellular	growth/size	homeostasis/metabolism	liver/biliary system	mortality/aging
reproductive system

NR1I3 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for NR1I3: Nr1i3^tm1.1Arte Nr1i3^tm1Dgen

inGenious Targeting Laboratory - Custom generated mouse model solutions for NR1I3

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NR1I3

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NR1I3

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NR1I3

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NR1I3
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for NR1I3
		Search LifeMap BioReagents cell lines for NR1I3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR1I3

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for NR1I3 About (see all 7)

See pathways by source

SuperPath

Contained pathways About

Nuclear Receptor transcription pathway

Nuclear Receptor transcription pathway

0.68

Nuclear Receptors

0.68

Generic Transcription Pathway

Gene Expression

0.47

Generic Transcription Pathway

0.47

Carbamazepine Pathway, Pharmacokinetics

Carbamazepine Pathway, Pharmacokinetics

0.38

Selected targets of GCR-alpha

Selected targets of GCR-alpha

Nuclear receptors in lipid metabolism and toxicity

Nuclear receptors in lipid metabolism and toxicity

Pathways by source See SuperPaths
Show all pathways

1 EMD Millipore Pathway for NR1I3

Selected targets of GCR-alpha

4 BioSystems Pathways for NR1I3

	Nuclear Receptors
	Nuclear receptors in lipid metabolism and toxicity
	Drug Induction of Bile Acid Pathway
	Glucocorticoid receptor regulatory network

3 Reactome Pathways for NR1I3

	Generic Transcription Pathway
	Nuclear Receptor transcription pathway
	Gene Expression

1 PharmGKB Pathway for NR1I3

Carbamazepine Pathway, Pharmacokinetics

NR1I3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NR1I3

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/25 Interacting proteins for NR1I3 (Q14994³ ENSP00000356959⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MED1	Q15648³, ENSP00000300651⁴	I2D: score=1 STRING: ENSP00000300651
PPARGC1A	Q9UBK2³, ENSP00000264867⁴	I2D: score=1 STRING: ENSP00000264867
RXRA	P19793³, ENSP00000419692⁴	I2D: score=2 STRING: ENSP00000419692
NR0B2	Q15466³, ENSP00000254227⁴	I2D: score=1 STRING: ENSP00000254227
NCOA1	Q15788³, ENSP00000320940⁴	I2D: score=2 STRING: ENSP00000320940

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	--	--
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	--
GO:0007165	signal transduction	TAS	8020947
GO:0010467	gene expression	TAS	--

NR1I3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NR1I3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for NR1I3

Compounds for NR1I3 available from Tocris Bioscience About this table

Compound	Action	CAS #
EB 1089	Vitamin D receptor (VDR) agonist	[134404-52-7]
Calcipotriol	Vitamin D3 analog	[112965-21-6]
Alfacalcidol	Prodrug of vitamin D3 (Cat. No. 4156)	[41294-56-8]
Calcifediol	Prohormone of calcitriol (Cat. No. 2551). Major circulating form of vitamin D	[19356-17-3]
Calcitriol	Vitamin D receptor (VDR) agonist	[32222-06-3]

7 HMDB Compounds for NR1I3 About this table

Compound	Synonyms	CAS #	PubMed Ids
1-Butanol	1-Butanol (see all 10)	71-36-3	--
1-Hexanol	1-Hexyl alcohol (see all 30)	111-27-3	--
1-Pentanol	1-Pentol (see all 34)	71-41-0	--
Ethanol	1-Hydroxyethane (see all 57)	64-17-5	--
Isobutanol	1-Hydroxymethylpropane (see all 18)	78-83-1	--
Isopropyl alcohol	2-Propanol (see all 12)	67-63-0	--
Propyl alcohol	1-Hydroxypropane (see all 17)	71-23-8	--

2 DrugBank Compounds for NR1I3 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
(5BETA)-PREGNANE-3,20-DIONE	--	--	target	--	10592235
16,17-Androstene-3-Ol	--	7148-51-8	target	--	10592235

4 IUPHAR Ligands for NR1I3 (Constitutive androstane receptor) About this table

Ligand	Type	Action	Affinity	Pubmed IDs
CITCO	Agonist	Agonist	7.3	12611900
meclizine	Antagonist	Antagonist	7.16	15272053
pregnanedione	Agonist	Agonist	6.17	10748001
clotrimazole	Antagonist	Antagonist	6.16	10748001

10/73 Novoseek inferred chemical compound relationships for NR1I3 gene (see all 73) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
androstane	99.2	707	11518807 (4), 12644700 (3), 16635107 (3), 11093784 (2) (see all 99)
citco	97.5	23	19588937 (2), 16099843 (1), 16929008 (1), 18332083 (1) (see all 10)
androstanol	91.6	12	15905360 (1), 16929008 (1), 17483497 (1), 18474683 (1) (see all 9)
tcpobop	87.4	34	15563456 (4), 16101572 (3), 18798339 (3), 18441373 (2) (see all 10)
androstenol	85	8	11457660 (3), 16929008 (1), 12114525 (1), 9783588 (1) (see all 5)
phenobarbital	82.5	133	19920082 (5), 10993889 (5), 17904175 (5), 11113125 (3) (see all 48)
dmes	82.4	14	19034627 (2), 16918318 (1), 18537574 (1), 19695866 (1) (see all 5)
cinacalcet	78.2	16	16189180 (4), 14696958 (2), 15794735 (1), 17373205 (1) (see all 7)
rifampicin	73.7	31	18786598 (3), 15919766 (3), 11181490 (2), 19588937 (2) (see all 16)
metofluthrin	72.1	3	19378387 (1), 19176367 (1)

Search CenterWatch for drugs/clinical trials and news about NR1I3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NR1I3 gene (15 alternative transcripts):

NM_001077469.2 NM_001077470.2 NM_001077471.2 NM_001077472.2 NM_001077473.2 NM_001077474.2 NM_001077475.2 NM_001077476.2

NM_001077477.2 NM_001077478.2 NM_001077479.2 NM_001077480.2 NM_001077481.2 NM_001077482.2 NM_005122.4

Unigene Cluster for NR1I3:

Nuclear receptor subfamily 1, group I, member 3

Hs.349642 [show with all ESTs]

Unigene Representative Sequence: AK303757

18/34 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 34):

ENST00000512372 ENST00000367983(uc001fzy.3) ENST00000488651 ENST00000464422

ENST00000437437 ENST00000479324 ENST00000442691 ENST00000412844 ENST00000428574

ENST00000505005 ENST00000508740 ENST00000367982 ENST00000506018 ENST00000508387

ENST00000504010 ENST00000511676 ENST00000502985 ENST00000512340

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Additional mRNA sequence:

AB307702.1 AK303757.1 AK303796.1 AK310773.1 AK316208.1 AY572806.1 AY572808.1 AY572810.1

AY572811.1 AY572812.1 AY572813.1 AY572816.1 AY572817.1 AY572818.1 AY572819.1 AY572820.1

AY572821.1 AY572822.1 AY572823.1 AY572824.1 AY572825.1 AY572827.1 BC069626.1 BC121120.1

BC121121.1 DQ022681.1 HQ692838.1 HQ692839.1 HQ692840.1 HQ692841.1 HQ709178.1

14 DOTS entries:

DT.121424716 DT.118470 DT.95212776 DT.121424516 DT.121424730 DT.75101308 DT.121424744 DT.121424507

DT.121424513 DT.121424575 DT.91855775 DT.75170204 DT.91931603 DT.97809200

24/70 AceView cDNA sequences (see all 70):

AY572814 AY572817 AY572822 AY572818 AW275372 AY572824 AY572808 AY572819

AY572815 BC069626 AY572826 AV652691 AY572809 AY572827 CB124867 AV661397

AY572806 AI262949 AV652653 BC069651 AV652750 AY572810 AY572823 AY572816

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for NR1I3 (see all 12) About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	^	8a	·	8b	^	9	^	10
SP1:																					-				-
SP2:																	-								-
SP3:																	-		-		-				-
SP4:			-		-																				-
SP5:			-		-												-								-

ECgene alternative splicing isoforms for NR1I3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NR1I3 expression in normal human tissues (normalized intensities) NR1I3 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCCCTCTTCT

About this image

NR1I3 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/3 selected tissues (see all 3) fully expand


Liver (Hepatobiliary System) fully expand to see all 2 entries
Perivenous Hepatocytes Liver Lobule

Intestine (Gastrointestinal Tract)
duodenum

Kidney (Urinary System)

See NR1I3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NR1I3

SOURCE GeneReport for Unigene cluster: Hs.349642

UniProtKB/Swiss-Prot: NR1I3_HUMAN, Q14994

Tissue specificity: Predominantly expressed in liver

SABiosciences Expression via Pathway-Focused PCR Array including NR1I3:

Nuclear Receptors & Coregulators in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for NR1I3 gene from 3/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Nr1i3^{1 , 5}	nuclear receptor subfamily 1, group I, member 3^{1, 5}	80.98(n)¹ 74.93(a)¹		1 (79.21 cM)⁵ 12355¹ NM_001243063.1¹ NP_001229992.1¹ 171213970⁵
chicken (Gallus gallus)	Aves	NR1I3¹	nuclear receptor subfamily 1, group I, member 3	62.5(n) 57.56(a)		395439 NM_204702.1 NP_990033.1
fruit fly (Drosophila melanogaster)	Insecta	EcR⁶	Ecdysone receptor	12(a)	1 → many	2R(1975378-2056592)

ENSEMBL Gene Tree for NR1I3 (if available)
TreeFam Gene Tree for NR1I3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NR1I3 gene

VDR² NR4A3² RARG² NR4A1² NR1I2² THRB² RARA² NR4A2²

NR1H4² NR1H2² RARB² THRA² NR1H3²

18/57 SIMAP similar genes for NR1I3 using alignment to 22 protein entries: NR1I3_HUMAN (see all proteins) (see all similar genes):

THRB NR3C2 HNF4alpha NR3C4 VDR AR

ESR2 NR5A2 ERRgamma ESRRG RXRB NR3C1

RORA ESR1 NR1C3 NR4A1 PPARG NR2A2

NR1I3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_018344⁴		--	--	see VAR_018344	2	V G	mis⁴		0	--	--	--	--
rs199948971^1,2		--	132560554(+)	`ATATA-/TATG TGTGT`	15	--	int¹		0	--	--	--	--
rs112168438^1,2	C,F	--	161202024(+)	`ACCCAG/CCTTGG`	15	--	int¹		1		WA	2
rs3003593^1,2	C,H	--	161203627(+)	`TATAtA/Gtgtgt`	15	--	int¹		0	--	--	--	--
rs11265569^1,2	C,A,H	--	161203669(+)	`tgtgtA/Gtgtgt`	15	--	int¹		0	--	--	--	--
rs12402656^1,2	A,H	--	161203675(+)	`tgtgtA/GtGtat`	15	--	int¹		0	--	--	--	--
rs113093711^1,2	C	--	161206516(+)	`TGTGG-/TTTTCT TTTTC`	15	--	cds¹		1		CSA	2
rs34795024^1,2	C	--	161208668(+)	`AAAAAA/-GAGAG`	15	--	us2k¹		1		NA	2
rs111781352^1,2	C,F	--	167695278(+)	`GCCCTC/TCTCAG`	15	--	ds500¹		3		CSA WA	122
rs150543962^1,2	C	--	167695425(+)	`CCCCCA/GGCACC`	15	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NR1I3 (161199456 - 161208092 bp)

Structural Variations
Database of Genomic Variants (DGV) variations for NR1I3: --

Human Gene Mutation Database (HGMD): NR1I3

SABiosciences Cancer Mutation PCR Assays

SeqTarget long-range PCR primers for resequencing NR1I3

DNA2.0 Custom Variant and Variant Library Synthesis for NR1I3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 603881 OMIM disorders: --

20/46 diseases for NR1I3 (see all 46): About MalaCards

familial hypocalciuric hypercalcemia hyperparathyroidism hypercalcemia biliary tract disease

primary hyperparathyroidism acute porphyria rickets uremia

jaundice hypoparathyroidism metabolic disorders nephrocalcinosis

nephrolithiasis gastrinoma neonatal jaundice cholestasis

porphyria zellweger syndrome leukopenia cytochrome p450

3 diseases from the University of Copenhagen DISEASES database for NR1I3:

Cholestasis Bilirubin metabolic disorder Neonatal jaundice

NR1I3 for disorders About GeneDecksing

10/39 Novoseek inferred disease relationships for NR1I3 gene (see all 39) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hyperparathyroidism secondary	73.2	15	16189180 (2), 11033758 (1), 16919492 (1), 12830754 (1) (see all 13)
nshpt	61.3	3	11033758 (1), 9507434 (1)
hyperparathyroidism	60.1	11	15658669 (2), 8675635 (1), 17018434 (1), 9011580 (1) (see all 9)
hypercalcemia	58.6	22	11033758 (2), 16189180 (2), 16603723 (2), 18492387 (1) (see all 9)
hyperparathyroidism primary	57.2	11	11134144 (2), 16189180 (2), 8675635 (1), 9509247 (1) (see all 5)
parathyroid hyperplasia	54.9	4	12469914 (2), 15888568 (1)
cholestasis	54.4	8	16565602 (2), 16101572 (1), 19300246 (1), 16025508 (1) (see all 5)
hypocalcemia	48.2	5	15507543 (1), 17018434 (1), 9757371 (1), 11701698 (1)
hypoparathyroidism	43.9	10	11701698 (3), 12940896 (1), 9757371 (1), 9768650 (1) (see all 7)
jaundice neonatal	43.5	3	12644704 (1), 19925451 (1)

Genetic Association Database (GAD): NR1I3
Human Genome Epidemiology (HuGE) Navigator: NR1I3 (7 documents)

Export disorders for NR1I3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NR1I3 gene, integrated from 9 sources (see all 513):
(articles sorted by number of sources associating them with NR1I3)

Utopia: connect your pdf to the dynamic
world of online information

A new orphan member of the nuclear hormone receptor superfamily that interacts with a subset of retinoic acid response elements. (PubMed id 8114692)^{1, 2, 3} Baes M.... Moore D.D. (1994)
Dephosphorylation of threonine 38 is required for nuc lear translocation and activation of human xenobiotic receptor CAR (NR1I3). (PubMed id 19858220)^{1, 2, 9} Mutoh S....Negishi M. (2009)
Expression of constitutive androstane receptor splice variants in human tissues and their functional consequences. (PubMed id 15194709)^{1, 2, 9} Lamba J.K.... Schuetz E.G. (2004)
PXR, CAR and HNF4alpha genotypes and their association with pharmacokinetics and pharmacodynamics of docetaxel and doxorubicin in Asian patients. (PubMed id 17876342)^{1, 4, 9} Hor S.Y....Tan T. (2008)
Lack of association of single-nucleotide polymorphisms in pregnane X receptor, hepatic nuclear factor 4alpha, and constitutive androstane receptor with docetaxel pharmacokinetics. (PubMed id 18056193)^{1, 4, 9} Tham L.S....Goh B.C. (2007)
A structural basis for constitutive activity in the human CAR/RXRalpha heterodimer. (PubMed id 15610735)^{1, 2, 9} Xu R.X....Moore J.T. (2004)
Association of genetic polymorphisms in SLCO1B3 and ABCC2 with docetaxel-induced leukopenia. (PubMed id 18294295)^{1, 4} Kiyotani K....Nakamura Y. (2008)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Twenty-six novel single nucleotide polymorphisms and their frequencies of the NR1I3 (CAR) gene in a Japanese population. (PubMed id 15618763)^{1, 2} Ikeda S.... Sawada J. (2003)
A component of the 26S proteasome binds on orphan member of the nuclear hormone receptor superfamily. (PubMed id 8603043)^{1, 2} Choi H.S.... Moore D.D. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9970	HGNC: 7969	AceView: NR1I3	Ensembl:ENSG00000143257	euGenes: HUgn9970
ECgene: NR1I3	H-InvDB: NR1I3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NR1I3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NR1I3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for NR1I3 gene:
Search GeneIP for patents involving NR1I3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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NR1I3 Gene

Nuclear Receptor Subfamily 1, Group I, Member 3

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NR1I3 Gene

Nuclear Receptor Subfamily 1, Group I, Member 3

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