FKBP1A
Description
The FKBP1A (FKBP prolyl isomerase 1A) is a protein-coding gene located on chromosome 20.
FKBP1A, also known as FKBP-12 or FKBP12, is a member of the immunophilin protein family, playing a critical role in immunoregulation and essential cellular processes involving protein folding and trafficking. This protein is a cis-trans prolyl isomerase, binding the immunosuppressants FK506 (tacrolimus) and rapamycin (sirolimus). It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. Additionally, it interacts with multiple intracellular calcium release channels including the tetrameric skeletal muscle ryanodine receptor. In mice, deletion of the homologous gene causes a congenital heart disorder known as noncompaction of left ventricular myocardium. Several alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed.
FKBP1A, also known as FKBP-12 or FKBP12, is a peptidyl-prolyl cis-trans isomerase (PPIase) that plays a role in protein folding and signal transduction. It acts as a molecular chaperone, preventing the activation of the TGF-beta receptor (TGFBR1) in the absence of its ligand. FKBP1A recruits SMAD7 to ACVR1B, blocking the association of SMAD2 and SMAD3 with the activin receptor complex, thereby inhibiting activin signaling. Additionally, FKBP1A may modulate the activity of the RYR1 calcium channel.
FKBP1A is also known as FKBP-12, FKBP-1A, FKBP1, FKBP12, PKC12, PKCI2, PPIASE.
