FKBP1A


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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
FK506 binding protein 1AMIM:186945Ensembl:ENSG00000088832HGNC:HGNC:3711PA2815320p13

GO terms in FKBP1A


Term TypeEvidence TypeGO Term IDGO Des.
BPIBAGO:0000413protein peptidyl-prolyl isomerization
BPIDAGO:0000413protein peptidyl-prolyl isomerization
BPISSGO:0003007heart morphogenesis
BPNASGO:0006457protein folding
BPTASGO:0006458'de novo' protein folding
BPIDAGO:0007183SMAD protein complex assembly
BPTASGO:0022417protein maturation by protein folding
BPIDAGO:0031398positive regulation of protein ubiquitination
BPIDAGO:0032092positive regulation of protein binding
BPIDAGO:0032515negative regulation of phosphoprotein phosphatase activity
BPIGIGO:0032880regulation of protein localization
BPIDAGO:0032925regulation of activin receptor signaling pathway
BPTASGO:0042026protein refolding
BPNASGO:0042110T cell activation
BPHMPGO:0043123positive regulation of I-kappaB kinase/NF-kappaB signaling
BPIMPGO:0050776regulation of immune response
BPIDAGO:0051280negative regulation of release of sequestered calcium ion into cytosol
BPISSGO:0055010ventricular cardiac muscle tissue morphogenesis
BPIDAGO:0060314regulation of ryanodine-sensitive calcium-release channel activity
BPISSGO:0060314regulation of ryanodine-sensitive calcium-release channel activity
BPIDAGO:0060315negative regulation of ryanodine-sensitive calcium-release channel activity
BPISSGO:0060347heart trabecula formation
BPIBAGO:0061077chaperone-mediated protein folding
BPNASGO:0070588calcium ion transmembrane transport
BPIDAGO:0097435supramolecular fiber organization
BPIGIGO:1902991regulation of amyloid precursor protein catabolic process
BPIDAGO:1990000amyloid fibril formation
CCIBAGO:0005737cytoplasm
CCIDAGO:0005737cytoplasm
CCIDAGO:0005829cytosol
CCTASGO:0005829cytosol
CCISSGO:0014802terminal cisterna
CCIDAGO:0016020membrane
CCISSGO:0016529sarcoplasmic reticulum
CCIDAGO:0030018Z disc
CCISSGO:0031312extrinsic component of organelle membrane
CCISSGO:0098562cytoplasmic side of membrane
CCISSGO:1990425ryanodine receptor complex
MFIBAGO:0003755peptidyl-prolyl cis-trans isomerase activity
MFIDAGO:0003755peptidyl-prolyl cis-trans isomerase activity
MFTASGO:0003755peptidyl-prolyl cis-trans isomerase activity
MFISSGO:0005160transforming growth factor beta receptor binding
MFTASGO:0005160transforming growth factor beta receptor binding
MFIPIGO:0005515protein binding
MFNASGO:0005527macrolide binding
MFIBAGO:0005528FK506 binding
MFIDAGO:0005528FK506 binding
MFNASGO:0005528FK506 binding
MFIDAGO:0019855calcium channel inhibitor activity
MFISSGO:0034713type I transforming growth factor beta receptor binding
MFISSGO:0044325ion channel binding
MFTASGO:0044325ion channel binding
MFIPIGO:0046332SMAD binding
MFIPIGO:0048185activin binding

Gene expression in normal tissue: FKBP1A

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in FKBP1A


DatabasePathway IDPathway Des.
wikipathwaysWP1471Target Of Rapamycin (TOR) Signaling
wikipathwaysWP2431Spinal Cord Injury
wikipathwaysWP536Calcium Regulation in the Cardiac Cell
wikipathwaysWP560TGF-beta Receptor Signaling
pidalk1pathwayALK1 signaling events
pidalk2pathwayALK2 signaling events
pidalphasynuclein_pathwayAlpha-synuclein signaling
pidnfat_3pathwayRole of Calcineurin-dependent NFAT signaling in lymphocytes
pidtcrcalciumpathwayCalcium signaling in the CD4+ TCR pathway
pidtgfbrpathwayTGF-beta receptor signaling
netpathPathway_TGF_beta_ReceptorTGF_beta_Receptor
pharmgkbPA165985892Tacrolimus/Cyclosporine Pathway, Pharmacodynamics
biocartamtorpathwaymtor signaling pathway
reactomeR-HSA-1168372Downstream signaling events of B Cell Receptor (BCR)
reactomeR-HSA-1280218Adaptive Immune System
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-1643685Disease
reactomeR-HSA-168256Immune System
reactomeR-HSA-170834Signaling by TGF-beta Receptor Complex
reactomeR-HSA-170834Signaling by TGF-beta Receptor Complex
reactomeR-HSA-2025928Calcineurin activates NFAT
reactomeR-HSA-2173789TGF-beta receptor signaling activates SMADs
reactomeR-HSA-2173791TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
reactomeR-HSA-3304351Signaling by TGF-beta Receptor Complex in Cancer
reactomeR-HSA-3642278Loss of Function of TGFBR2 in Cancer
reactomeR-HSA-3645790TGFBR2 Kinase Domain Mutants in Cancer
reactomeR-HSA-3656532TGFBR1 KD Mutants in Cancer
reactomeR-HSA-3656534Loss of Function of TGFBR1 in Cancer
reactomeR-HSA-3656535TGFBR1 LBD Mutants in Cancer
reactomeR-HSA-5663202Diseases of signal transduction
reactomeR-HSA-9006936Signaling by TGF-beta family members
reactomeR-HSA-9006936Signaling by TGF-beta family members
reactomeR-HSA-983705Signaling by the B Cell Receptor (BCR)

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD61Kinetin riboside3
iGMDRD780PP-303
iGMDRD577BIX012946
iGMDRD506Fedratinib3
iGMDRD100Zebularine3
iGMDRD634SCHEMBL26080413
iGMDRD23Gossypol3
iGMDRD246NPC263
iGMDRD474Avrainvillamide1
iGMDRD158NSC1415402
iGMDRD210AC556493
iGMDRD126Tipifarnib3
iGMDRD885Compound 1103
iGMDRD782DC-45-A21

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in FKBP1A

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