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 |
|---|---|---|---|---|---|
OMIM IDMIM:186945 Ensembl IDEnsembl:ENSG00000088832 HGNC IDHGNC:HGNC:3711 PHARMGKB IDPA28153 Map Location20p13 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FKBP1A
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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