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FLASH GENE
Symbol FKBP1B contributors: - updated : 27-07-2005
HGNC name FK506 binding protein 1B, 12.6 kDa
HGNC id 3712
Location 2p23-p21      Physical location : 24.272.583 - 24.286.548
Synonym name
  • FK506-binding protein 1, intrinsic peptidyl-prolyl cis-trans isomerase activity
  • calstabin 2
  • rotamase
  • immunophilin FKBP12.6
  • Synonym symbol(s) OTK4, FKBP9, FKBP1L, PKBP1L, PPIase, FKBP12.6
    EC.number 5.2.1.8
    DNA
    TYPE functioning gene
    STRUCTURE 13.00 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 Sp family
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 930 12.6 108 - Arakawa
    truncated
    - - 970 9.3 80 Jurkat cells Arakawa
    truncated
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneT cell
    cell lineage
    cell lines Jurkat T lymphoblastoid cell line
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • rotamase N terminal FK506 binding and peptidyl prolyl cis-trans domains
  • three tetratricopeptide repeat (TPR) motifs consistent with nuclear transcript or chaperone activity
  • HOMOLOGY
    Homologene
    FAMILY immunophilin class of proteins family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • playing a role in immunoregulation and basic cellular processes involving protein folding and trafficking
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cardiovascular , immunity/defense
    text excitation-contraction coupling in cardiac muscle
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with FK506-rapamycin and RYR2 (stabilizing the closed state of RYR2 and preventing the calcium leak that triggers arrhythmias)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RYR2 in cardiac muscle sarcoplasmic reticulum, to stabilize RYR2 and preventing aberrant activation of the channel during the resting phase of the cardiac cycle
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene for treatment of heart failures (by binding to ryanodine receptors)
    Marker
    Therapy target
    ANIMAL & CELL MODELS