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FLASH GENE
Symbol FKBP1A contributors: mct - updated : 18-08-2015
HGNC name FK506 binding protein 1A, 12kDa
HGNC id 3711
Location 20p13      Physical location : 1.349.622 - 1.373.816
Genatlas name rotamase
Synonym name
  • peptidyl-prolyl cis-trans-isomerase
  • protein kinase C inhibitor
  • FK506-binding protein, T-cell, 12-kD
  • immunophilin FKBP12
  • Synonym symbol(s) FKBP, FKBP12, FKBP1, PKC12, PPIASE
    EC.number 5.2.1.8
    DNA
    TYPE functioning gene
    STRUCTURE 24.20 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure contain a consensus transcription factor binding sequence for Ets-1
    MAPPING cloned Y linked   status provisional
    Physical map
    SOX12 20p13 SRY (sex determining region Y)-box 12 C20orf98 20p13 chromosome 20 open reading frame 98 C20orf97 20p12.2-p13 chromosome 20 open reading frame 97 C20orf18 20p13 chromosome 20 open reading frame 18 C20orf140 20p13 chromosome 20 open reading frame 140 CSNK2A1 20p13 casein kinase 2, alpha 1 polypeptide TCF15 20p13 transcription factor 15 (basic helix-loop-helix) C20orf139 20p13 chromosome 20 open reading frame 139 LOC391226 20 similar to dJ850E9.1 (novel C2H2 type zinc finger protein similar to Drosophila Scratch (Scrt), Slug and Xenopus Snail) C20orf54 20p13 chromosome 20 open reading frame 54 RPS10L 20p13 ribosomal protein S10-like C20orf55 20p13 chromosome 20 open reading frame 55 ANGPT4 20p13 angiopoietin 4 LOC343637 20p13 similar to dJ824F16.3 (novel protein similar to mouse thrombospondin type 1 domain protein R-spondin) PSMF1 20p13-p12.2 proteasome (prosome, macropain) inhibitor subunit 1 (PI31) ACTGP3 20p13 actin, gamma pseudogene 3 C20orf46 20p13 chromosome 20 open reading frame 46 SNPH 20p13 syntaphilin SDCBP2 20p13 syndecan binding protein (syntenin) 2 FLJ20802 20p13 hypothetical protein FLJ20802 FKBP1A 20p13 FK506 binding protein 1A, 12kDa NSFL1C 20p13 NSFL1 (p97) cofactor (p47) PTPNS1L3 20p12.2-13 protein tyrosine phosphatase, non-receptor type substrate 1-like 3 PTPNS1L2 20p13 protein tyrosine phosphatase, non-receptor type substrate 1-like 2 SIRPB1 20p13 signal-regulatory protein beta 1 SIRPB2 20p13 signal-regulatory protein beta 2 LOC391227 20 similar to Signal-regulatory protein beta-2 precursor (SIRP-beta-2) (SIRP-b2) LOC388779 20 LOC388779 PTPNS1 20p13 protein tyrosine phosphatase, non-receptor type substrate 1 PDYN 20p13 prodynorphin RPL7P2 20p13 ribosomal protein L7 pseudogene 2 STK35 20 serine/threonine kinase 35 LOC388780 20 LOC388780 TGM3 20p13 transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1643 11 108 - 2008 18413763
    FKBP12B
    4 - 901 11 108 - 2008 18413763
    FKBP12A
    4 - 1530 - 97 - 2008 18413763
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestivesalivary gland   highly
    Nervousbrainhindbraincerebellum   Homo sapiens
     brainlimbic systemhippocampus   Homo sapiens
    Reproductivefemale systemovary  highly
    Respiratorylung   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneT cell
    Nervousneuron Homo sapiens
    NervousPurkinje cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • rotamase N terminal FK506 binding and peptidyl prolyl cis-trans domains and
  • three tetratricopeptide repeat (TPR) motifs consistent with nuclear transcript or chaperone activity
  • HOMOLOGY
    interspecies homolog to murine Fkbp1a
    Homologene
    FAMILY immunophilin class of proteins family
    CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • acting as an inhibitor for transforming growth factor-beta (TGF-beta) signaling
  • T cell binding protein for the immunosuppressive agents FK506-rapamycin
  • intrinsic peptidyl-prolyl cis-trans isomerase activity
  • potential negative regulator of TGFBR endocytosis
  • modulating the release of calcium from the sarcoplasmic reticulum by RYR2
  • may be involved in neuronal or astrocytic cytoskeletal organization and in the abnormal metabolism of tau protein in AD damaged neurons
  • regeneration-associated gene in intrinsic CNS neurons
  • inhibitory function as an adaptor molecule for the SMAD7-SMURF1 complex to regulate the duration of the activin signal
  • regulates HRAS trafficking by promoting depalmitoylation through cis-trans isomerization of a peptidyl-prolyl bond in proximity to the palmitoylated cysteines
  • critical regulator of voltage-gated sodium current I(Na) and is important for cardiac arrhythmogenic physiology
  • forms an endogenous inhibitor of EGFR phosphorylation directly involved in the control of cellular EGFR activity
  • CELLULAR PROCESS protein, post translation, folding
    PHYSIOLOGICAL PROCESS immunity/defense
    text antipathogen response
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • modulating RYR1, RYR2 and RYR3
  • physically interacts and stabilizes RYR1 by decreasing channel open probability, playing the role for endogenous RYR stabilizer
  • binds to the glycine- and serine-rich motif (GS motif) of the TGF-beta type I receptor, and functions as a secure switch to prevent the leaky signal
  • bind to the skeletal muscle sarcoplasmic reticulum Ca2+ release channel [ryanodine receptor (RYR1)] and plays an important role in excitation-contraction coupling
  • interacted with another inhibitory molecule of activin signal, SMAD7, in an activin-dependent manner, and formed a complex with SMAD7 on the type I receptor
  • binds to HRAS in a palmitoylation-dependent fashion and promotes depalmitoylation
  • functionally interacts with EGFR (inhibit EGF-induced EGFR autophosphorylation with all internal phosphorylation sites equally affected)
  • interaction between FKBP1A and RYR1, RYR3 and ITPR1
  • promotes the RYR1 closed state, thereby inhibiting Ca2+ leakage in resting muscle
  • FKBP1A preferentially targets the BMP receptor ACVR1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in gastric cancer
    constitutional     --low  
    in brain of Alzheimer disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • after multiple injury bouts, FKBP1a-deficient mice recovered muscle strength faster than WT mice and exhibited significantly less histological muscle damage than WT mice