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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
    Physical map
    CHN2 7p15.3 chimerin (chimaerin) 2 LOC222171 7p15.1 hypothetical protein LOC222171 NIPA 7q32.3 nuclear interacting partner of anaplastic lymphoma kinase (ALK) LOC392650 7 LOC392650 KIAA0265 7q32.3 KIAA0265 protein LOC392790 7 LOC392790 FLJ14803 7q32.3 hypothetical protein FLJ14803 LOC136263 7q32.3 LOC136263 CPA2 7q32 carboxypeptidase A2 (pancreatic) LOC222171 7p15.1 hypothetical protein LOC222171 CPA4 7q32 carboxypeptidase A4 SES1 7p14.3-p14.1 secernin 1 CPA5 7q32 carboxypeptidase A5 LOC389476 7 LOC389476 CPA1 7q32 carboxypeptidase A1 (pancreatic) FKBP14 7p15.3 FK506 binding protein 14, 22 kDa TSGA14 7q32 testis specific, 14 FAPP2 7p21-p11.2 phosphoinositol 4-phosphate adaptor protein-2 MEST 7q32 mesoderm specific transcript homolog (mouse) COPG2 7q32 coatomer protein complex, subunit gamma 2 Ells1 7p15.1 hypothetical protein Ells1 SES1 7p14.3-p14.1 secernin 1 LOC223082 7p15.1 zinc finger/RING finger 2 TSGA13 7q32 testis specific, 13 KLF14 7q32.3 Kruppel-like factor 14 FKBP14 7p15.3 FK506 binding protein 14, 22 kDa DKFZp586I1420 7p15.1 hypothetical protein DKFZp586I1420 FAPP2 7p21-p11.2 phosphoinositol 4-phosphate adaptor protein-2 CARD4 7p15-p14 caspase recruitment domain family, member 4 Ells1 7p15.1 hypothetical protein Ells1 C7orf24 7p15-p14 chromosome 7 open reading frame 24 LOC392791 7 LOC392791 LOC392792 7 hypothetical gene supported by AK125651; BC039420 GARS 7p15 glycyl-tRNA synthetase LOC223082 7p15.1 zinc finger/RING finger 2 CRHR2 7p21-p15 corticotropin releasing hormone receptor 2 DKFZp586I1420 7p15.1 hypothetical protein DKFZp586I1420 INMT 7p15.3-p15.2 indolethylamine N-methyltransferase LOC392651 7 similar to hypothetical protein FLJ22374 CARD4 7p15-p14 caspase recruitment domain family, member 4 C7orf24 7p15-p14 chromosome 7 open reading frame 24 LOC392987 7 similar to ribosomal protein L27 AQP1 7p14 aquaporin 1 (channel-forming integral protein, 28kDa) GARS 7p15 glycyl-tRNA synthetase MKLN1 7q32 muskelin 1, intracellular mediator containing kelch motifs GHRHR 7p14 growth hormone releasing hormone receptor CRHR2 7p21-p15 corticotropin releasing hormone receptor 2
    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