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FLASH GENE
Symbol FKBP6 contributors: mct - updated : 26-04-2017
HGNC name FK506 binding protein 6, 36kDa
HGNC id 3722
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 1544 - 322 - 2000 10631136
9 - 1570 - 327 - 2000 10631136
8 - 1550 - 297 - 2000 10631136
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Reproductivemale systemtestis  specific Homo sapiens
Urinarykidney    
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductivespermatocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
IMPRINTING
text might be imprinted in the testis
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • immunophilin class of proteins with multiple N terminal FK506 binding
  • peptidyl prolyl cis-trans isomerase (rotamase) domains
  • a TPR domain interacting with HSPA1B
  • an imperfect C terminal tetratricopeptide repeat domain
  • HOMOLOGY
    Homologene
    FAMILY
  • immunophilin class of proteins family
  • CATEGORY chaperone/stress , enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • T cell binding protein FKBP for the immunosuppressive agents FK506-rapamycin, but lacking immuno suppressant activity
  • may play a role in modifying the susceptibility to idiopathic spermatogenic impairment
  • fundamental role in homologous chromosome synapsis during male meiosis
  • plays a crucial role in male meiosis
  • possible role of FKBP6 and HSPA1B in the disassembly of clathrin coats
  • crucial factor in spermatogenesis because of its interplay with the synaptonemal complex protein SYCP1
  • is a cytosolic protein in fetal male germ cells (gonocytes)
  • FKBP6 is an HCV-induced host factor that supports viral replication
  • CELLULAR PROCESS cell cycle,division,meiosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the synaptonemal complex (SC), which is essential for proper chromosome pairing and meiotic division
  • complexing with glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and Hsp90
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • preferentially binds to HSPA1B among the members of the Hsp70 family and is thus the first TPR-containing protein which discriminates between Hsp70 protein
  • catalytic domain of FKBP6 binds to clathrin heavy chain (CLTC) of clathrin
  • diminishes GAPDH activity by direct interaction and down-regulation, which represents a previously unknown mechanism of GAPDH regulation and a novel function of FKBP6 in testis-specific signaling
  • interaction between FKBP6 and the NIMA-related kinase-1, NEK1, and NEK1 is a possible kinase involved in cohesin redistribution in spermatocytes
  • is a cochaperone that interacts with HSP90AA1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    included in the Williams-Beuren commonly deleted region
    constitutional     --low  
    results in abnormal pairing and a misalignment of the homologous chromosomes, and in non-homologous partner switches and autosynapsis of the X chromosome cores in meiotic spermatocytes
    Susceptibility to male infertility
    Variant & Polymorphism other allele A of c.216C>A seems to be a protective factor for the development of male infertility
    Candidate gene hypofertility in WBS
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    homozygous fkbp6-/- male mice are infertile