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FLASH GENE
Symbol FBXL4 contributors: mct - updated : 26-09-2012
HGNC name F-box and leucine-rich repeat protein 4
HGNC id 13601
Corresponding disease
MTDPS13 mitochondrial DNA depletion syndrome13
Location 6q16.2      Physical location : 99.321.600 - 99.395.849
Synonym symbol(s) FBL4, FBL5
DNA
TYPE functioning gene
STRUCTURE 74.25 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 2777 - 621 - 2013 2399319
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Endocrinepancreas    
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal mitochondrial targeting sequence (MTS) essential to target FBXL4 to mitochondria
  • F-box 40AA domain
  • a canonical FBXL functional domains
  • a AMN1 domain
  • a C terminal nine leucine-rich repeats (LRR), ribonuclease inhibitor type
  • HOMOLOGY
    Homologene
    FAMILY F-box protein family
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,interspace
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • F-box protein that colocalizes with mitochondria
  • basic FUNCTION
  • phosphorylation dependent uniquination
  • substrate recognition subunit of SCF ubiquitin protein ligase complex
  • mitochondrial protein with a possible role in maintaining mtDNA integrity and stability
  • role for FBXL4 in controlling bioenergetic homeostasis and mtDNA maintenance
  • CELLULAR PROCESS protein, ubiquitin dependent proteolysis
    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
  • various target proteins
  • FBXL4 interacted with KDM4A and regulated protein turnover
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MTDPS13
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS