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FLASH GENE
Symbol FKBP14 contributors: mct - updated : 15-06-2012
HGNC name FK506 binding protein 14, 22 kDa
HGNC id 18625
Corresponding disease
EDS6C Ehlers-Danlos syndrome, type VI C
Location 7p14.3      Physical location : 30.052.883 - 30.066.268
Synonym name
  • peptidyl-prolyl cis-trans isomerase
  • rotamase
  • 22 kDa FK506-binding protein
  • Synonym symbol(s) FKBP22, FLJ20731, UNQ322/PRO381
    EC.number 5.2.1.8
    DNA
    TYPE functioning gene
    STRUCTURE 13.38 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2247 22 211 - 2002 12036304
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systembreastmammary gland highly
    Respiratoryrespiratory tractlarynx  highly
    Skin/Tegumentskin   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • rotamase N terminal FK506 binding
  • a peptidyl prolyl cis-trans isomerase domain
  • two EF-hand calcium binding domains
  • mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Fkbp7
    Homologene
    FAMILY
  • immunophilin class of proteins family
  • FK506-binding protein (FKBP)-family of peptidyl-prolyl cis-trans isomerases (PPIases)
  • CATEGORY chaperone/stress , enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • peptidyl-prolyl cis/trans isomerases (PPIases) that bind the immunosuppressive drug FK506
  • exhibits a chaperone as well as a PPIase activity
  • implicated in catalyzing cis-trans-isomerization of peptidyl-prolyl peptide bonds and are supposed to accelerate protein folding
  • peptidyl-prolyl cis-trans isomerases that play integral roles in protein folding, assembly and trafficking
  • plays an essential role in development, one aspect of which includes regulating members of the Notch signaling pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • binds via its FK506 binding protein (FKBP) domain directly to the Hsp70 chaperone HSPA5 that stimulates its chaperone activity
  • FKBP14 acts downstream of NOTCH1 activation at the membrane
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EDS6C
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS