FKBP1A

The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple 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. [provided by RefSeq, Sep 2008]

Full Name

FK506 Binding Protein 1A

Function

Keeps in an inactive conformation TGFBR1, the TGF-beta type I serine/threonine kinase receptor, preventing TGF-beta receptor activation in absence of ligand. Recruits SMAD7 to ACVR1B which prevents the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. May modulate the RYR1 calcium channel activity. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.

Biological Process

de novo' protein folding Source: BHF-UCL
Amyloid fibril formation Source: BHF-UCL
Calcium ion transmembrane transport Source: BHF-UCL
Chaperone-mediated protein folding Source: GO_Central
Heart morphogenesis Source: BHF-UCL
Heart trabecula formation Source: BHF-UCL
Negative regulation of phosphoprotein phosphatase activity Source: BHF-UCL
Negative regulation of transforming growth factor beta receptor signaling pathway Source: FlyBase
Positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
Positive regulation of protein binding Source: BHF-UCL
Positive regulation of protein ubiquitination Source: BHF-UCL
Protein folding Source: UniProtKB
Protein maturation by protein folding Source: BHF-UCL
Protein peptidyl-prolyl isomerization Source: BHF-UCL
Protein refolding Source: BHF-UCL
Regulation of activin receptor signaling pathway Source: BHF-UCL
Regulation of amyloid precursor protein catabolic process Source: ParkinsonsUK-UCL
Regulation of immune response Source: BHF-UCL
Regulation of protein localization Source: ParkinsonsUK-UCL
Regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
SMAD protein complex assembly Source: BHF-UCL
Supramolecular fiber organization Source: BHF-UCL
T cell activation Source: BHF-UCL
Ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL

Cellular Location

Cytosol; Sarcoplasmic reticulum membrane