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NR1I2 nuclear receptor subfamily 1 group I member 2 [ Homo sapiens (human) ]

Gene ID: 8856, updated on 23-Nov-2023

Summary

Official Symbol
NR1I2provided by HGNC
Official Full Name
nuclear receptor subfamily 1 group I member 2provided by HGNC
Primary source
HGNC:HGNC:7968
See related
Ensembl:ENSG00000144852 MIM:603065; AllianceGenome:HGNC:7968
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
BXR; PAR; PRR; PXR; SAR; SXR; ONR1; PAR1; PAR2; PARq
Summary
This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008]
Expression
Biased expression in small intestine (RPKM 14.5), duodenum (RPKM 13.0) and 4 other tissues See more
Orthologs
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Genomic context

See NR1I2 in Genome Data Viewer
Location:
3q13.33
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (119782101..119818487)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (122501838..122538215)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119500948..119537334)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20322 Neighboring gene uncharacterized LOC105374064 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:119419489-119420688 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:119421355-119422034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20325 Neighboring gene cytochrome c oxidase copper chaperone COX17 Neighboring gene cilia and flagella associated protein 91 Neighboring gene Sharpr-MPRA regulatory region 6912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:119528543-119529046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:119534511-119535011 Neighboring gene PHB1 pseudogene 8 Neighboring gene glycogen synthase kinase 3 beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20328 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:119691277-119691494 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:119722393-119722919 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:119722920-119723445 Neighboring gene PARL pseudogene 1 Neighboring gene RFK pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: 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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
acts_upstream_of_or_within negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of gene expression 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 positive regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in steroid metabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in xenobiotic catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in xenobiotic metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in xenobiotic transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
part_of transcription regulator complex IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
nuclear receptor subfamily 1 group I member 2
Names
orphan nuclear receptor PAR1
orphan nuclear receptor PXR
pregnane X receptor
steroid and xenobiotic receptor

NCBI Reference Sequences (RefSeq)

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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_011856.2 RefSeqGene

    Range
    5002..41388
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003889.4NP_003880.3  nuclear receptor subfamily 1 group I member 2 isoform 1

    See identical proteins and their annotated locations for NP_003880.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains an alternate 5' terminal exon compared to transcript variant 2, and initiates translation from an in-frame, downstream non-AUG (CUG) codon, resulting in a shorter isoform (1) with a different N-terminus compared to isoform 2.
    Source sequence(s)
    AC069444, KF457674
    Consensus CDS
    CCDS43136.1
    UniProtKB/Swiss-Prot
    O75469, Q006P5, Q008C8, Q96AC7, Q9UJ22, Q9UJ23, Q9UJ24, Q9UJ25, Q9UJ26, Q9UJ27, Q9UNW4
    UniProtKB/TrEMBL
    J3KPQ3
    Related
    ENSP00000377319.3, ENST00000393716.8
    Conserved Domains (2) summary
    cd06934
    Location:143428
    NR_LBD_PXR_like; The ligand binding domain of xenobiotic receptors:pregnane X receptor and constitutive androstane receptor
    cl02596
    Location:40127
    NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
  2. NM_022002.3NP_071285.1  nuclear receptor subfamily 1 group I member 2 isoform 2

    See identical proteins and their annotated locations for NP_071285.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (2) and initiates translation from the standard AUG codon present in its 5' terminal exon.
    Source sequence(s)
    AC069444, KF457674
    Consensus CDS
    CCDS2995.1
    UniProtKB/TrEMBL
    F1D8P9, F1DAL3
    Related
    ENSP00000336528.4, ENST00000337940.4
    Conserved Domains (2) summary
    cd06934
    Location:182467
    NR_LBD_PXR_like; The ligand binding domain of xenobiotic receptors:pregnane X receptor and constitutive androstane receptor
    cd07162
    Location:79166
    NR_DBD_PXR; DNA-binding domain of pregnane X receptor (PXRs) is composed of two C4-type zinc fingers
  3. NM_033013.3NP_148934.1  nuclear receptor subfamily 1 group I member 2 isoform 3

    See identical proteins and their annotated locations for NP_148934.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and uses a different acceptor splice site at one of the internal coding exons, compared to transcript variant 2. It initiates translation from an in-frame, downstream non-AUG (CUG) codon, resulting in a shorter isoform (3) with a different N-terminus and missing an internal segment, compared to isoform 2.
    Source sequence(s)
    AC069444, KF457674
    Consensus CDS
    CCDS54627.1
    UniProtKB/TrEMBL
    H0Y8E2
    Related
    ENSP00000420297.2, ENST00000466380.6
    Conserved Domains (2) summary
    cd06934
    Location:143391
    NR_LBD_PXR_like; The ligand binding domain of xenobiotic receptors:pregnane X receptor and constitutive androstane receptor
    cl02596
    Location:40127
    NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    119782101..119818487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    122501838..122538215
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)