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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for FKBP1A (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID2280
Official gene symbolFKBP1A
Full nameFK506 binding protein 1A, 12kDa
Aliases,FKBP-12,FKBP1,FKBP12,FKBP12C,PKC12,PKCI2,PPIASE,
Gene summaryThe 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]
LocationChromosome: 20   Locus: 20p13
Gene position1373816 - 1349622  Map Viewer
Gene orientationminus
Gene size24195 bp
Gene sequence
OMIM ID186945