Aliases for NR1I2 Gene
External Ids for NR1I2 Gene
Previous GeneCards Identifiers for NR1I2 Gene
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]
GeneCards Summary for NR1I2 Gene
NR1I2 (Nuclear Receptor Subfamily 1, Group I, Member 2) is a Protein Coding gene. Diseases associated with NR1I2 include freemartinism and cerebrotendinous xanthomatosis. Among its related pathways are Gene Expression and Nuclear Receptor transcription pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription coactivator activity. An important paralog of this gene is VDR.
UniProtKB/Swiss-Prot for NR1I2 Gene
Nuclear receptor that binds and is activated by variety of endogenous and xenobiotic compounds. Transcription factor that activates the transcription of multiple genes involved in the metabolism and secretion of potentially harmful xenobiotics, drugs and endogenous compounds. Activated by the antibiotic rifampicin and various plant metabolites, such as hyperforin, guggulipid, colupulone, and isoflavones. Response to specific ligands is species-specific. Activated by naturally occurring steroids, such as pregnenolone and progesterone. Binds to a response element in the promoters of the CYP3A4 and ABCB1/MDR1 genes.
Pregnane X receptors (PXRs) are nuclear receptors that regulate the expression of CYP3A genes, generating key enzymes involved in xenobiotic metabolism. PXRs also help regulate the induction of P-gp. PXRs are highly expressed in the liver, small intestine and colon.