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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| FK506 binding protein 1A | MIM:186945 | Ensembl:ENSG00000088832 | HGNC:HGNC:3711 | PA28153 | 20p13 |
GO terms in FKBP1A
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0000413 | protein peptidyl-prolyl isomerization |
| BP | IDA | GO:0000413 | protein peptidyl-prolyl isomerization |
| BP | ISS | GO:0003007 | heart morphogenesis |
| BP | NAS | GO:0006457 | protein folding |
| BP | TAS | GO:0006458 | 'de novo' protein folding |
| BP | IDA | GO:0007183 | SMAD protein complex assembly |
| BP | TAS | GO:0022417 | protein maturation by protein folding |
| BP | IDA | GO:0031398 | positive regulation of protein ubiquitination |
| BP | IDA | GO:0032092 | positive regulation of protein binding |
| BP | IDA | GO:0032515 | negative regulation of phosphoprotein phosphatase activity |
| BP | IGI | GO:0032880 | regulation of protein localization |
| BP | IDA | GO:0032925 | regulation of activin receptor signaling pathway |
| BP | TAS | GO:0042026 | protein refolding |
| BP | NAS | GO:0042110 | T cell activation |
| BP | HMP | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling |
| BP | IMP | GO:0050776 | regulation of immune response |
| BP | IDA | GO:0051280 | negative regulation of release of sequestered calcium ion into cytosol |
| BP | ISS | GO:0055010 | ventricular cardiac muscle tissue morphogenesis |
| BP | IDA | GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity |
| BP | ISS | GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity |
| BP | IDA | GO:0060315 | negative regulation of ryanodine-sensitive calcium-release channel activity |
| BP | ISS | GO:0060347 | heart trabecula formation |
| BP | IBA | GO:0061077 | chaperone-mediated protein folding |
| BP | NAS | GO:0070588 | calcium ion transmembrane transport |
| BP | IDA | GO:0097435 | supramolecular fiber organization |
| BP | IGI | GO:1902991 | regulation of amyloid precursor protein catabolic process |
| BP | IDA | GO:1990000 | amyloid fibril formation |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | ISS | GO:0014802 | terminal cisterna |
| CC | IDA | GO:0016020 | membrane |
| CC | ISS | GO:0016529 | sarcoplasmic reticulum |
| CC | IDA | GO:0030018 | Z disc |
| CC | ISS | GO:0031312 | extrinsic component of organelle membrane |
| CC | ISS | GO:0098562 | cytoplasmic side of membrane |
| CC | ISS | GO:1990425 | ryanodine receptor complex |
| MF | IBA | GO:0003755 | peptidyl-prolyl cis-trans isomerase activity |
| MF | IDA | GO:0003755 | peptidyl-prolyl cis-trans isomerase activity |
| MF | TAS | GO:0003755 | peptidyl-prolyl cis-trans isomerase activity |
| MF | ISS | GO:0005160 | transforming growth factor beta receptor binding |
| MF | TAS | GO:0005160 | transforming growth factor beta receptor binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | NAS | GO:0005527 | macrolide binding |
| MF | IBA | GO:0005528 | FK506 binding |
| MF | IDA | GO:0005528 | FK506 binding |
| MF | NAS | GO:0005528 | FK506 binding |
| MF | IDA | GO:0019855 | calcium channel inhibitor activity |
| MF | ISS | GO:0034713 | type I transforming growth factor beta receptor binding |
| MF | ISS | GO:0044325 | ion channel binding |
| MF | TAS | GO:0044325 | ion channel binding |
| MF | IPI | GO:0046332 | SMAD binding |
| MF | IPI | GO:0048185 | activin binding |
Gene expression in normal tissue: FKBP1A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FKBP1A
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP1471 | Target Of Rapamycin (TOR) Signaling |
| wikipathways | WP2431 | Spinal Cord Injury |
| wikipathways | WP536 | Calcium Regulation in the Cardiac Cell |
| wikipathways | WP560 | TGF-beta Receptor Signaling |
| pid | alk1pathway | ALK1 signaling events |
| pid | alk2pathway | ALK2 signaling events |
| pid | alphasynuclein_pathway | Alpha-synuclein signaling |
| pid | nfat_3pathway | Role of Calcineurin-dependent NFAT signaling in lymphocytes |
| pid | tcrcalciumpathway | Calcium signaling in the CD4+ TCR pathway |
| pid | tgfbrpathway | TGF-beta receptor signaling |
| netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
| pharmgkb | PA165985892 | Tacrolimus/Cyclosporine Pathway, Pharmacodynamics |
| biocarta | mtorpathway | mtor signaling pathway |
| reactome | R-HSA-1168372 | Downstream signaling events of B Cell Receptor (BCR) |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-170834 | Signaling by TGF-beta Receptor Complex |
| reactome | R-HSA-170834 | Signaling by TGF-beta Receptor Complex |
| reactome | R-HSA-2025928 | Calcineurin activates NFAT |
| reactome | R-HSA-2173789 | TGF-beta receptor signaling activates SMADs |
| reactome | R-HSA-2173791 | TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) |
| reactome | R-HSA-3304351 | Signaling by TGF-beta Receptor Complex in Cancer |
| reactome | R-HSA-3642278 | Loss of Function of TGFBR2 in Cancer |
| reactome | R-HSA-3645790 | TGFBR2 Kinase Domain Mutants in Cancer |
| reactome | R-HSA-3656532 | TGFBR1 KD Mutants in Cancer |
| reactome | R-HSA-3656534 | Loss of Function of TGFBR1 in Cancer |
| reactome | R-HSA-3656535 | TGFBR1 LBD Mutants in Cancer |
| reactome | R-HSA-5663202 | Diseases of signal transduction |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
| reactome | R-HSA-983705 | Signaling by the B Cell Receptor (BCR) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD780 | PP-30 | 3 |
| iGMDRD577 | BIX01294 | 6 |
| iGMDRD506 | Fedratinib | 3 |
| iGMDRD100 | Zebularine | 3 |
| iGMDRD634 | SCHEMBL2608041 | 3 |
| iGMDRD23 | Gossypol | 3 |
| iGMDRD246 | NPC26 | 3 |
| iGMDRD474 | Avrainvillamide | 1 |
| iGMDRD158 | NSC141540 | 2 |
| iGMDRD210 | AC55649 | 3 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD885 | Compound 110 | 3 |
| iGMDRD782 | DC-45-A2 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FKBP1A
CLASSFICATION
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