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FLASH GENE
Symbol FBXW11 contributors: mct - updated : 01-10-2019
HGNC name F-box and WD-40 domain protein 11
HGNC id 13607
Corresponding disease
NDEDJ neurodevelopmental disorder with eye, digital, and jaw anomalies
Location 5q35.1      Physical location : 171.288.555 - 171.433.877
Synonym name
  • beta transducin repeat containing protein 2
  • F-box protein FBW1B
  • beta transducin repeat-containing protein 2
  • F-box and WD-40 domain protein 1B
  • F-box and WD- repeats protein beta-TrCP2
  • Synonym symbol(s) KIAA0696, BTRC2, FBW1B, BTRCP2, FBXW1B, Hos, Fbw11
    DNA
    TYPE functioning gene
    STRUCTURE 145.32 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 splicing 4536 60.7 529 not in spleen 2000 10694485
  • lacking exon 2
  • isoform b
  • 12 splicing 4473 58.2 508 ubiquitous, not in spleen 2000 10694485
  • lacking exon 2-3
  • isoform a
  • 13 splicing 4575 61.9 542 ubiquitous, not in spleen 2000 10694485
  • lacking exon 3
  • isoform c
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly
    Nervousbrain   highly Homo sapiensFetal
    Reproductivemale systemprostate  highly
    Visualeye     Homo sapiensFetal
    cell lineage
    cell lines primary gastric cancer cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text lung
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 40AA F-box motif
  • seven WD40 repeats
  • HOMOLOGY
    interspecies homolog to murine Fbxw11(99.6pc)
    intraspecies homolog to BTRC
    Homologene
    FAMILY F-box protein family, fbws class
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text BTRC and FBXW11 localise to both nucleus and cytosol
    basic FUNCTION
  • promoting ubiquitination and degradation of proteins by proteasome
  • substrate recognition subunit of SCF ubiquitin protein ligase complex
  • BTRC and FBXW11 were involved in the cell autonomous circadian rhythm generation in culture cells
  • regulates various signal transduction pathways, and it may have pathological roles in tumorigenesis
  • BTRC and FBXW11 regulates the transition from mitosis to meiosis in male germ cells by targeting DMRT1 for degradation
  • F-box protein, part of the Skp1-cullin-F-box (SCF) ubiquitin ligase complex, involved in ubiquitination and proteasomal degradation and thus fundamental to many protein regulatory processes
  • role of FBXW11 in multiple developmental processes, including those involving the brain, eye, digits, and jaw
  • role for FBXW11 in the development of the eye, jaw, limbs, and brain
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component one of the four subunits of the E3 ubiquitin protein ligase complex (SCF) with SKP1, CUL1, RBX1, F-box protein bringing ubiquitin conjugating enzymes to substrates recruited by F-box
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CTNNB1, HIV-V-pu
  • binds HIV1-Vpu and is able to induce CD4 down-modulation as efficiently as BTRC
  • pro-caspase-3 appears to be a substrate of SAG/ROC-SCF(BTRC) E3 Ub ligase, which protects cells from apoptosis through increased apoptosis threshold by reducing the basal level of pro-caspase-3
  • both BTRC and FBXW11 bind specifically to USP47, and point mutations in the TRCP WD-repeat region completely abolished USP47 binding, indicating an E3-substrate-type interaction
  • FBXW11 bound, polyubiquitylated, and destabilized RAPGEF2, a guanine nucleotide exchange factor that activates the small GTPase TERF2IP
  • CDKN2A was recognized by the F-box protein FBXW11 and degraded by the proteasome
  • BTRC and FBXW11 is capable of suppressing oxidative stress-induced CASP3-dependent apoptosis through suppression of MAP3K5, assisting in the organism's ability to maintain homeostasis in an unstable environment
  • involved in HH signaling by regulating the ubiquitination of GLI transcription factors
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDEDJ
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    aberrantly upregulated in patients with lymphocytic leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene for holoprosencephaly-preaxial polydactyly syndrome associated with a unique case of dup5q35.1
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    may serve as a potential molecular target for the treatment of lymphocytic leukemia
    ANIMAL & CELL MODELS
  • over-expressed in chemically induced mouse skin tumors
  • deletion of the genes for both beta-TrCP1 and beta-TrCP2 paralogs in germ cells of male mice resulted in accumulation of the transcription factor DMRT1 and spermatogenic failure