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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
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
Physical map
LOC388930 2 LOC388930 FLJ14126 2p24.1 hypothetical protein FLJ14126 KBTBD9 2p24.1 kelch repeat and BTB (POZ) domain containing 9 KIAA1240 2p24.1 KIAA1240 protein LOC165324 LOC388931 2 hypothetical gene supported by BX647146 FLJ21945 2p24.1 hypothetical protein FLJ21945 FKBP1B 2p24.1 FK506 binding protein 1B, 12.6 kDa P14 2pter-p25.1 pre-mRNA branch site protein p14 TP53I3 2p24.1-p23.3 tumor protein p53 inducible protein 3 LOC375189 2p24.1 hypothetical protein LOC375189 LOC388932 2 similar to FLJ30851 protein LOC388933 2 LOC388933 ITSN2 2pter-p25.1 intersectin 2 PRO2015 2p24.1 hypothetical protein PRO2015 NCOA1 2p23 nuclear receptor coactivator 1 LOC391356 2 similar to ENSANGP00000018456 MGC11266 2p24.1 hypothetical protein MGC11266 ADCY3 2p23 adenylate cyclase 3 LOC51277 LOC388934 2 LOC388934 LOC388935 2 LOC388935 KIAA0953 2p24.1 LOC388935 POMC 2p23.3 proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin) DNMT3A 2p23 DNA (cytosine-5-)-methyltransferase 3 alpha
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