Protein Name FKBP prolyl isomerase 1A
Organism Homo sapiens
Gene ID 2280
Gene Symbol

FKBP1A

UniProt P62942 (FKB1A_HUMAN), A0A087WTS4 (A0A087WTS4_HUMAN), Q0VDC6 (Q0VDC6_HUMAN)
Relationships Total Number of functionally related compound(s) : 68
Total Number of Articles : 102
Description

FKBP prolyl isomerase 1A

Gene Summary

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]

synonyms
  • peptidyl-prolyl cis-trans isomerase FKBP1A
  • 12 kDa FK506-binding protein
  • 12 kDa FKBP
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Properties