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FLASH GENE
Symbol FBXW4 contributors: np/ - updated : 14-06-2006
HGNC name F-box and WD-40 domain protein 4
HGNC id 10847
Corresponding disease
SHFM3 split hand and foot malformation 3
Location 10q24.32      Physical location : 103.370.421 - 103.454.743
Synonym name dactylin
Synonym symbol(s) DAC, SHSF3, FBW4, FBWD4
DNA
TYPE functioning gene
STRUCTURE 84.32 kb     9 Exon(s)
motif repetitive sequence   ALU
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 2303 - 412 - -
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen    
Cardiovascularheart    
Digestiveliver    
Endocrinepancreas    
Nervousbrain    
Reproductivemale systemprostate   
Respiratorylung    
Urinarykidney    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text higlhy in fetal brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one F-box domain
  • four WD repeats
  • HOMOLOGY
    interspecies homolog to Drosophila Shc
    homolog to murine Fbxw4 (92.1pc)
    Homologene
    FAMILY
  • F-box/WD40 protein family
  • CATEGORY adaptor , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • involved in key signaling pathways crucial for normal limb development
  • promoting the ubiquitination and the degradation of some phosphorylated proteins
  • CELLULAR PROCESS protein, degradation
    protein, ubiquitin dependent proteolysis
    PHYSIOLOGICAL PROCESS development , detoxification
    PATHWAY
    metabolism
    signaling signal transduction
    Ubl conjugation pathway
    a component
  • component of a SCF (SKP1-CULLIN-F-BOX) protein ligase complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to some phosphorylated proteins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SHFM3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS