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FLASH GENE
Symbol FKBP6 contributors: mct - updated : 26-04-2017
HGNC name FK506 binding protein 6, 36kDa
HGNC id 3722
Location 7q11.23      Physical location : 72.742.154 - 72.772.641
Synonym name
  • immunophilin FKBP36
  • peptidylprolyl cis-trans isomerase
  • Synonym symbol(s) FKBP36
    EC.number 5.2.1.8
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    text FKBP6 and two truncated copies FKBP6T1 and FKBP6T2
    STRUCTURE 30.49 kb     9 Exon(s)    3 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see WBS1
    Physical map
    LOC389514 7 hypothetical gene supported by BC042156; BC051888; NM_018264 LOC389515 7 similar to Shwachman-Bodian-Diamond syndrome protein (CGI-97) POM121 7q11.23 POM121 membrane glycoprotein (rat) WBSCR20C 7q11.23 POM121 membrane glycoprotein (rat) TRIM50C 7 tripartite motif-containing 50C LOC389516 7 hypothetical gene supported by BC002581; NM_012447 LOC389517 7 similar to Williams Beuren syndrome chromosome region 19 GTF2IP1 7q11.23 general transcription factor II, i, pseudogene 1 LOC389518 7 similar to Neutrophil cytosolic factor 1 LOC389519 7 similar to transcription factor GTF2IRD2 LOC389520 7 similar to Nuclear envelope pore membrane protein POM 121 (Pore membrane protein of 121 kDa) (P145) WBSCR20A 7q11.23 Williams Beuren syndrome chromosome region 20A TRIM50A 7q11.23 tripartite motif-containing 50A FKBP6 7q11.23 FK506 binding protein 6, 36kDa FZD9 7q11.23 frizzled homolog 9 (Drosophila) BAZ1B 7q11.23 bromodomain adjacent to zinc finger domain, 1B BCL7B 7q11.23 B-cell CLL/lymphoma 7B TBL2 7q11.23 transducin (beta)-like 2 WBSCR14 7q11.23 Williams Beuren syndrome chromosome region 14 WBSCR24 7q11.23 Williams Beuren syndrome chromosome region 24 STX1A 7q11.23 syntaxin 1A (brain) WBSCR18 7q11.23 Williams Beuren syndrome chromosome region 18 WBSCR22 7q11.23 Williams Beuren syndrome chromosome region 22 WBSCR21 7q11.23 Williams Beuren syndrome chromosome region 21 CLDN3 7q11.23 claudin 3 CLDN4 7q11.23 claudin 4 WBSCR27 7q11.23 claudin 4 WBSCR28 7q11.23 Williams-Beuren syndrome critical region 28 ELN 7q11.23 elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) LIMK1 7q11.23 LIM domain kinase 1 WBSCR1 7q11.23 Williams-Beuren syndrome chromosome region 1 WBSCR5 7q11.23 Williams-Beuren syndrome chromosome region 5 RFC2 7q11.23 replication factor C (activator 1) 2, 40kDa
    regionally located FKBP6 in the WBS1 deletion,FKBPGT1 in the centromeric,FKBP6T2 in the telomeric repeat regions flanking the WBS1 deletion
    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