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    NR1I3 nuclear receptor subfamily 1 group I member 3 [ Homo sapiens (human) ]

    Gene ID: 9970, updated on 2-Nov-2024

    Summary

    Official Symbol
    NR1I3provided by HGNC
    Official Full Name
    nuclear receptor subfamily 1 group I member 3provided by HGNC
    Primary source
    HGNC:HGNC:7969
    See related
    Ensembl:ENSG00000143257 MIM:603881; AllianceGenome:HGNC:7969
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAR; CAR1; MB67
    Summary
    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. In addition to drug metabolism, the CAR protein is also reported to regulate genes involved in glucose metabolism, lipid metabolism, cell proliferation, and circadian clock regulation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2020]
    Expression
    Biased expression in liver (RPKM 24.0), kidney (RPKM 3.5) and 6 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NR1I3 in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161229669..161238203, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160367115..160375669, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161199459..161207993, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1988 Neighboring gene apolipoprotein A2 Neighboring gene translocase of outer mitochondrial membrane 40 like Neighboring gene microRNA 5187 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:161228903-161229403 Neighboring gene Purkinje cell protein 4 like 1 Neighboring gene uncharacterized LOC105371472 Neighboring gene uncharacterized LOC107985221

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC97144, MGC97209, MGC150433

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    nuclear receptor subfamily 1 group I member 3
    Names
    constitutive activator of retinoid response
    constitutive active receptor
    constitutive active response
    constitutive androstane receptor
    orphan nuclear hormone receptor
    orphan nuclear receptor MB67

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029113.1 RefSeqGene

      Range
      5008..13542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077469.3NP_001070937.1  nuclear receptor subfamily 1 group I member 3 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), also known as SV-1, uses two alternate splice sites in the 3' coding region, compared to variant 1. The resulting protein (isoform 6) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA918394, AY572806, CB124867
      Consensus CDS
      CCDS44261.1
      UniProtKB/TrEMBL
      E9PCF2
      Related
      ENSP00000412672.2, ENST00000428574.6
      Conserved Domains (2) summary
      cd07156
      Location:1182
      NR_DBD_VDR_like; The DNA-binding domain of vitamin D receptors (VDR) like nuclear receptor family is composed of two C4-type zinc fingers
      cl11397
      Location:106311
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
    2. NM_001077470.3NP_001070938.1  nuclear receptor subfamily 1 group I member 3 isoform 11

      See identical proteins and their annotated locations for NP_001070938.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), also known as SV-3, lacks two alternate in-frame exons and uses an alternate splice site, compared to variant 1. The resulting protein (isoform 11) is shorter, uses an upstream start codon, and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AA918394, AY572808, CB124867
      Consensus CDS
      CCDS53407.1
      UniProtKB/TrEMBL
      B6ZGT2
      Related
      ENSP00000424345.1, ENST00000504010.5
      Conserved Domains (2) summary
      cl02596
      Location:753
      NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
      cl11397
      Location:77278
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
    3. NM_001077471.3NP_001070939.1  nuclear receptor subfamily 1 group I member 3 isoform 5

      See identical proteins and their annotated locations for NP_001070939.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), also known as SV-5 or CAR3, lacks an alternate in-frame exon and uses an alternate splice site, compared to variant 1. The resulting protein (isoform 5) is shorter than isoform 1.
      Source sequence(s)
      AA918394, AY572810, CB124867
      Consensus CDS
      CCDS44262.1
      UniProtKB/TrEMBL
      B6ZGT2
      Related
      ENSP00000356963.4, ENST00000367984.8
      Conserved Domains (2) summary
      cd07156
      Location:1182
      NR_DBD_VDR_like; The DNA-binding domain of vitamin D receptors (VDR) like nuclear receptor family is composed of two C4-type zinc fingers
      cl11397
      Location:106307
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
    4. NM_001077472.3NP_001070940.1  nuclear receptor subfamily 1 group I member 3 isoform 9

      See identical proteins and their annotated locations for NP_001070940.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), also known as SV-6, lacks an alternate in-frame exon in the 5' coding region and uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 9) is shorter, uses an upstream start codon, and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AA918394, AY572811, CB124867
      Consensus CDS
      CCDS41427.1
      UniProtKB/TrEMBL
      D6REZ7
      Related
      ENSP00000356960.3, ENST00000367981.7
      Conserved Domains (2) summary
      cd06934
      Location:77322
      NR_LBD_PXR_like; The ligand binding domain of xenobiotic receptors:pregnane X receptor and constitutive androstane receptor
      cl02596
      Location:753
      NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
    5. NM_001077473.3NP_001070941.1  nuclear receptor subfamily 1 group I member 3 isoform 12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), also known as SV-7, lacks an alternate in-frame exon in the 5' coding region and uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 12) is shorter, uses an upstream start codon, and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AA918394, AY572812, CB124867
      Consensus CDS
      CCDS53411.1
      UniProtKB/TrEMBL
      E9PCF2
      Related
      ENSP00000399361.2, ENST00000412844.6
      Conserved Domains (2) summary
      cl02596
      Location:753
      NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
      cl11397
      Location:77286
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
    6. NM_001077474.3NP_001070942.1  nuclear receptor subfamily 1 group I member 3 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), also known as SV-8, lacks an alternate in-frame exon and uses two alternate splice sites in the 3' coding region, compared to variant 1. The resulting protein (isoform 8) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA918394, AY572813, CB124867
      Consensus CDS
      CCDS53405.1
      UniProtKB/TrEMBL
      B6ZGT2
      Related
      ENSP00000424934.1, ENST00000505005.5
      Conserved Domains (2) summary
      cd07156
      Location:1182
      NR_DBD_VDR_like; The DNA-binding domain of vitamin D receptors (VDR) like nuclear receptor family is composed of two C4-type zinc fingers
      cl11397
      Location:106267
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
    7. NM_001077475.3NP_001070943.1  nuclear receptor subfamily 1 group I member 3 isoform 15

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), also known as SV-11, lacks two alternate in-frame exons and uses two alternate splice sites, compared to variant 1. The resulting protein (isoform 15) is shorter, uses an upstream start codon, and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AA918394, AY572816, CB124867
      Consensus CDS
      CCDS53406.1
      UniProtKB/TrEMBL
      E9PCF2
      Related
      ENSP00000425417.1, ENST00000512372.5
      Conserved Domains (2) summary
      cl02596
      Location:753
      NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
      cl11397
      Location:77238
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
    8. NM_001077476.3NP_001070944.1  nuclear receptor subfamily 1 group I member 3 isoform 13

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), also known as SV-12, lacks an alternate in-frame exon in the 5' coding region and uses two alternate splice sites in the 3' coding region, compared to variant 1. The resulting protein (isoform 13) is shorter, uses an upstream start codon, and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AA918394, AY572817, CB124867
      Consensus CDS
      CCDS53410.1
      UniProtKB/TrEMBL
      E9PCF2
      Related
      ENSP00000423666.1, ENST00000508740.5
      Conserved Domains (2) summary
      cl02596
      Location:753
      NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
      cl11397
      Location:77282
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
    9. NM_001077477.3NP_001070945.1  nuclear receptor subfamily 1 group I member 3 isoform 14

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), also known as SV-13, lacks an alternate in-frame exon in the 5' coding region and uses three alternate splice sites in the 3' coding region, compared to variant 1. The resulting protein (isoform 14) is shorter, uses an upstream start codon, and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AA918394, AY572818, CB124867
      Consensus CDS
      CCDS53408.1
      UniProtKB/TrEMBL
      E9PCF2
      Related
      ENSP00000407446.2, ENST00000437437.6
      Conserved Domains (2) summary
      cl02596
      Location:753
      NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
      cl11397
      Location:77277
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
    10. NM_001077478.3NP_001070946.1  nuclear receptor subfamily 1 group I member 3 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), also known as SV-14, uses two alternate splice sites in the 3' coding region, compared to variant 1. The resulting protein (isoform 7) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA918394, AY572819, CB124867
      Consensus CDS
      CCDS44260.1
      UniProtKB/TrEMBL
      E9PCF2
      Related
      ENSP00000406493.2, ENST00000442691.6
      Conserved Domains (2) summary
      cd07156
      Location:1182
      NR_DBD_VDR_like; The DNA-binding domain of vitamin D receptors (VDR) like nuclear receptor family is composed of two C4-type zinc fingers
      cl11397
      Location:106310
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
    11. NM_001077479.3NP_001070947.1  nuclear receptor subfamily 1 group I member 3 isoform 10

      See identical proteins and their annotated locations for NP_001070947.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), also known as SV-22, lacks an alternate in-frame exon in the 5' coding region and uses two alternate splice sites in the 3' coding region, compared to variant 1. The resulting protein (isoform 10) is shorter, uses an upstream start codon, and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AA918394, AY572827, CB124867
      Consensus CDS
      CCDS53409.1
      UniProtKB/TrEMBL
      D6REZ7
      Related
      ENSP00000427175.1, ENST00000511676.5
      Conserved Domains (2) summary
      cd06934
      Location:77317
      NR_LBD_PXR_like; The ligand binding domain of xenobiotic receptors:pregnane X receptor and constitutive androstane receptor
      cl02596
      Location:753
      NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
    12. NM_001077480.3NP_001070948.1  nuclear receptor subfamily 1 group I member 3 isoform 2

      See identical proteins and their annotated locations for NP_001070948.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AA918394, AL590714, BC069626, CB124867
      Consensus CDS
      CCDS41430.1
      UniProtKB/Swiss-Prot
      E9PB75, E9PC13, E9PDU3, E9PGH6, E9PH10, E9PHC8, E9PHN4, F1D8Q0, F1D8Q1, Q0VAC9, Q14994, Q4U0F0, Q5VTW5, Q5VTW6, Q6GZ68, Q6GZ76, Q6GZ77, Q6GZ78, Q6GZ79, Q6GZ82, Q6GZ83, Q6GZ84, Q6GZ85, Q6GZ87, Q6GZ89
      UniProtKB/TrEMBL
      B6ZGT2
      Related
      ENSP00000356961.4, ENST00000367982.8
      Conserved Domains (2) summary
      cd06934
      Location:106350
      NR_LBD_PXR_like; The ligand binding domain of xenobiotic receptors:pregnane X receptor and constitutive androstane receptor
      cd07156
      Location:1182
      NR_DBD_VDR_like; The DNA-binding domain of vitamin D receptors (VDR) like nuclear receptor family is composed of two C4-type zinc fingers
    13. NM_001077481.3NP_001070949.1  nuclear receptor subfamily 1 group I member 3 isoform 4

      See identical proteins and their annotated locations for NP_001070949.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 4) is shorter than isoform 1.
      Source sequence(s)
      AA918394, AL590714, BC121120, CB124867
      Consensus CDS
      CCDS41428.1
      UniProtKB/TrEMBL
      B6ZGT2
      Related
      ENSP00000356965.3, ENST00000367985.7
      Conserved Domains (2) summary
      cd07156
      Location:1182
      NR_DBD_VDR_like; The DNA-binding domain of vitamin D receptors (VDR) like nuclear receptor family is composed of two C4-type zinc fingers
      cl11397
      Location:106312
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
    14. NM_001077482.3NP_001070950.1  nuclear receptor subfamily 1 group I member 3 isoform 1

      See identical proteins and their annotated locations for NP_001070950.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as SV-25 or CAR2, represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA918394, BC121120, CB124867, DQ022681
      Consensus CDS
      CCDS41429.1
      UniProtKB/TrEMBL
      B6ZGT2
      Related
      ENSP00000356959.2, ENST00000367980.6
      Conserved Domains (2) summary
      cd06934
      Location:106355
      NR_LBD_PXR_like; The ligand binding domain of xenobiotic receptors:pregnane X receptor and constitutive androstane receptor
      cd07156
      Location:1182
      NR_DBD_VDR_like; The DNA-binding domain of vitamin D receptors (VDR) like nuclear receptor family is composed of two C4-type zinc fingers
    15. NM_005122.5NP_005113.1  nuclear receptor subfamily 1 group I member 3 isoform 3

      See identical proteins and their annotated locations for NP_005113.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as WT or REF, uses two alternate splice sites in the 3' coding region, compared to variant 1. The resulting protein (isoform 3) is shorter than isoform 1.
      Source sequence(s)
      CB124867, Z30425
      Consensus CDS
      CCDS1228.1
      UniProtKB/TrEMBL
      B6ZGT2
      Related
      ENSP00000356962.5, ENST00000367983.9
      Conserved Domains (2) summary
      cd06934
      Location:106346
      NR_LBD_PXR_like; The ligand binding domain of xenobiotic receptors:pregnane X receptor and constitutive androstane receptor
      cd07156
      Location:1182
      NR_DBD_VDR_like; The DNA-binding domain of vitamin D receptors (VDR) like nuclear receptor family is composed of two C4-type zinc fingers

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      161229669..161238203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245693.5XP_005245750.2  nuclear receptor subfamily 1 group I member 3 isoform X2

    2. XM_005245697.5XP_005245754.1  nuclear receptor subfamily 1 group I member 3 isoform X1

      See identical proteins and their annotated locations for XP_005245754.1

      UniProtKB/TrEMBL
      B6ZGT2, F1DAL4
      Conserved Domains (2) summary
      cd06934
      Location:106351
      NR_LBD_PXR_like; The ligand binding domain of xenobiotic receptors:pregnane X receptor and constitutive androstane receptor
      cd07156
      Location:1182
      NR_DBD_VDR_like; The DNA-binding domain of vitamin D receptors (VDR) like nuclear receptor family is composed of two C4-type zinc fingers

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      160367115..160375669 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339984.1XP_054195959.1  nuclear receptor subfamily 1 group I member 3 isoform X2

    2. XM_054339983.1XP_054195958.1  nuclear receptor subfamily 1 group I member 3 isoform X1

      UniProtKB/TrEMBL
      F1DAL4