NR1I3

Description

The NR1I3 (nuclear receptor subfamily 1 group I member 3) is a protein-coding gene located on chromosome 1.

NR1I3, also known as the Constitutive Androstane Receptor (CAR), is a nuclear receptor that plays a crucial role in detoxification. It functions as a sensor for both internal (endobiotic) and external (xenobiotic) substances. When activated, NR1I3 increases the expression of proteins responsible for metabolizing and eliminating these substances. This process is essential for removing harmful compounds from the body. NR1I3 is a key regulator of xenobiotic and endobiotic metabolism. Unlike most nuclear receptors, it is constitutively active, meaning it is active even in the absence of a ligand. NR1I3 is regulated by both agonists (activators) and inverse agonists (inhibitors). When a ligand binds to NR1I3, it moves from the cytoplasm to the nucleus where it binds to specific DNA sites known as response elements. This binding can occur as a single protein (monomer) or in combination with the retinoid X receptor (RXR), resulting in either activation or repression of target genes. The genes controlled by NR1I3 are involved in drug metabolism and the removal of bilirubin.

NR1I3 binds and activates specific DNA sequences called retinoic acid response elements, which control the expression of genes such as retinoic acid receptor beta 2 and alcohol dehydrogenase 3. It also activates the phenobarbital responsive element module of the human CYP2B6 gene and the CYP3A4 xenobiotic response element.

NR1I3 is also known as CAR, CAR1, MB67.

Associated Diseases

• Kleefstra syndrome 1
• glycogen storage disorder due to hepatic glycogen synthase deficiency
• 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
• exercise-induced hyperinsulinism
• diabetes mellitus, permanent neonatal 4
• diabetes mellitus, transient neonatal, 3