FKBP1A

Peptidyl-prolyl cis-trans isomerase FKBP1A is an enzyme that in humans is encoded by the FKBP1A gene.^[5] It is also commonly referred to as FKBP-12 or FKBP12 and is a member of a family of FK506-binding proteins (FKBPs).

FKBP1A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1A7X, 1B6C, 1BKF, 1BL4, 1D6O, 1D7H, 1D7I, 1D7J, 1EYM, 1F40, 1FAP, 1FKB, 1FKD, 1FKF, 1FKG, 1FKH, 1FKI, 1FKJ, 1FKR, 1FKS, 1FKT, 1J4H, 1J4I, 1J4R, 1NSG, 1QPF, 1QPL, 2DG3, 2DG4, 2DG9, 2FAP, 2FKE, 2PPN, 2PPO, 2PPP, 2RSE, 3FAP, 3H9R, 3MDY, 4DH0, 4FAP, 4IPX, 4N19, 4ODP, 4ODQ, 4ODR
Identifiers
Aliases	FKBP1A, FKBP-12, FKBP-1A, FKBP1, FKBP12, PKC12, PKCI2, PPIASE, FK506 binding protein 1A, FKBP prolyl isomerase 1A
External IDs	OMIM: 186945; MGI: 95541; HomoloGene: 105139; GeneCards: FKBP1A; OMA:FKBP1A - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p13 Start 1,368,977 bp[1] End 1,393,164 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 G3 Start 151,384,403 bp[2] End 151,403,612 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lung monocyte upper lobe of left lung right lobe of thyroid gland left lobe of thyroid gland nucleus accumbens epithelium of colon rectum left uterine tube smooth muscle tissue Top expressed in lateral septal nucleus olfactory tubercle external carotid artery internal carotid artery dentate gyrus of hippocampal formation granule cell subiculum nucleus accumbens anterior amygdaloid area endocardial cushion Gonadal ridge More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium channel inhibitor activity activin binding isomerase activity macrolide binding peptidyl-prolyl cis-trans isomerase activity signal transducer activity protein binding SMAD binding transforming growth factor beta receptor binding FK506 binding enzyme binding Hsp70 protein binding type I transforming growth factor beta receptor binding protein homodimerization activity transmembrane transporter binding Cellular component cytoplasm terminal cisterna Z discdkac extracellular exosome extrinsic component of organelle membrane cytoplasmic side of membrane ryanodine receptor complex cytosol membrane sarcoplasmic reticulum sarcoplasmic reticulum membrane intracellular membrane-bounded organelle axon terminus Biological process SMAD protein complex assembly amyloid fibril formation regulation of activin receptor signaling pathway protein maturation by protein folding regulation of amyloid precursor protein catabolic process protein peptidyl-prolyl isomerization negative regulation of ryanodine-sensitive calcium-release channel activity regulation of protein localization calcium ion transmembrane transport protein refolding regulation of immune response positive regulation of I-kappaB kinase/NF-kappaB signaling negative regulation of release of sequestered calcium ion into cytosol positive regulation of protein binding positive regulation of protein ubiquitination 'de novo' protein folding transforming growth factor beta receptor signaling pathway T cell activation chaperone-mediated protein folding supramolecular fiber organization negative regulation of phosphoprotein phosphatase activity protein folding negative regulation of protein phosphorylation heart morphogenesis muscle contraction response to iron ion cytokine-mediated signaling pathway response to caffeine T cell proliferation release of sequestered calcium ion into cytosol ventricular cardiac muscle tissue morphogenesis regulation of ryanodine-sensitive calcium-release channel activity heart trabecula formation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2280 14225 Ensembl ENSG00000088832 ENSMUSG00000032966 UniProt P62942 P26883 RefSeq (mRNA) NM_054014 NM_000801 NM_001199786 NM_001302077 NM_001302078 NM_001302079 NM_001302080 NM_008019 NM_001355077 NM_001355078 RefSeq (protein) NP_000792 NP_001186715 NP_463460 NP_001289006 NP_001289007 NP_001289008 NP_001289009 NP_032045 NP_001342006 NP_001342007 Location (UCSC) Chr 20: 1.37 – 1.39 Mb Chr 2: 151.38 – 151.4 Mb PubMed search [3] [4]
Wikidata
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Function

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. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 (tacrolimus) and rapamycin (sirolimus). It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels including 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.^[6]

Interactions

FKBP1A has been shown to interact with:

• GLMN,^[7][8]
• ITPR1^[9][10]
• KIAA1303,^[11][12]
• Mammalian target of rapamycin,^{[11][12][13][14][15][16]}
• RYR1,^[17][18][19] and
• TGF beta receptor 1.^[20][21]