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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
Physical map
LOC134581 6q16.3 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) FUT9 6q16 fucosyltransferase 9 (alpha (1,3) fucosyltransferase) KIAA0776 6q16.2 fucosyltransferase 9 (alpha (1,3) fucosyltransferase) FHL5 6q16.1-q16.3 four and a half LIM domains 5 LOC391953 6 similar to 40S ribosomal protein S7 (S8) GPR63 6q16.1-q16.3 G protein-coupled receptor 63 C6orf66 6q16.3 chromosome 6 open reading frame 66 KIAA1900 6q16.3 KIAA1900 C6orf167 6q16.3 chromosome 6 open reading frame 167 POU3F2 6q16 POU domain, class 3, transcription factor 2 FBXL4 6q16.1-q16.3 F-box and leucine-rich repeat protein 4 LOC389416 6 similar to oxidoreductase UCPA C6orf168 6q16.3 chromosome 6 open reading frame 168 COQ3 6q21-q22 coenzyme Q3 homolog, methyltransferase (yeast) C6orf111 6q16.3 chromosome 6 open reading frame 111 USP45 6q16.2 ubiquitin specific protease 45 LOC389417 6 similar to USP45 protein LOC389418 6 similar to Heat shock protein 67B2 CCNC 6q21 cyclin C PRDM13 6q16-q21 PR domain containing 13 GPR145 6q16-q21 G protein-coupled receptor 145 LOC391954 6 similar to Peroxiredoxin 2 (Thioredoxin peroxidase 1) (Thioredoxin-dependent peroxide reductase 1) (Thiol-specific antioxidant protein) (TSA) (PRP) (Natural killer cell enhancing factor B) (NKEF-B) LOC391955 6 similar to Arginase II, mitochondrial precursor (Non-hepatic arginase) (Kidney-type arginase) SIM1 6q16.3-q21 single-minded homolog 1 (Drosophila) HELIC1 6q16 helicase, ATP binding 1 LOC153893 6q16-q21 Homo sapiens similar to RP42 homolog (LOC153893) on chromosome 6. DJ467N11.1 6q16.1-q16.3 dJ467N11.1  protein GRIK2 6q16.3-q21 glutamate receptor, ionotropic, kainate 2
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