Aliases for NR1I3 Gene
External Ids for NR1I3 Gene
Previous GeneCards Identifiers 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.
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.