FKBP1A, Official Symbol FKBP1Aprovided by HGNC Official Full Name FKBP prolyl isomerase 1Aprovided by HGNC Primary source HGNC:HGNC:3711 See related Ensembl:ENSG00000088832 MIM:186945; AllianceGenome:HGNC:3711 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FKBP1; PKC12; PKCI2; FKBP12; PPIASE; FKBP-12; FKBP-1A 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] Expression Ubiquitous expression in placenta (RPKM 88.0), thyroid (RPKM 87.6) and 25 other tissues See more Orthologs mouse all