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FLASH GENE
Symbol FKBP6 contributors: mct - updated : 26-04-2017
HGNC name FK506 binding protein 6, 36kDa
HGNC id 3722
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