Aliases for FKBP1A Gene
External Ids for FKBP1A Gene
Previous HGNC Symbols for FKBP1A Gene
Previous GeneCards Identifiers for FKBP1A Gene
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]
GeneCards Summary for FKBP1A Gene
FKBP1A (FK506 Binding Protein 1A) is a Protein Coding gene. Diseases associated with FKBP1A include Left Ventricular Noncompaction and Reticulate Acropigmentation Of Kitamura. Among its related pathways are SMAD2/3 MH2 Domain Mutants in Cancer and Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer. GO annotations related to this gene include protein homodimerization activity and signal transducer activity. An important paralog of this gene is FKBP1C.
UniProtKB/Swiss-Prot for FKBP1A Gene
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.
Protein Ser/Thr phosphatases are a group of enzymes that catalyze the removal of phosphate groups from serine and/or threonine residues by hydrolysis of phosphoric acid monoesters. They oppose the action of kinases and phosphorylases and are involved in signal transduction.