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FLASH GENE
Symbol ETFDH contributors: mct/npt - updated : 13-10-2009
HGNC name electron-transferring-flavoprotein dehydrogenase
HGNC id 3483
Corresponding disease
ETFDH glutaric acidemia, type II
Location 4q32.1      Physical location : 159.593.276 - 159.629.839
Synonym name
  • ETF-ubiquinone oxidoreductase
  • ETF dehydrogenase
  • Synonym symbol(s) ETFQO
    EC.number 1.5.5.1
    DNA
    TYPE functioning gene
    STRUCTURE 36.56 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    FLJ20047 4q31.3 hypothetical protein FLJ20047 LOC389235 4 similar to protocadherin 16 precursor; fibroblast cadherin FIB1; fibroblast cadherin 1; dachsous homologue PLRG1 4q31.2-q32.1 pleiotropic regulator 1 (PRL1homolog, Arabidopsis) FGB 4q28 fibrinogen, B beta polypeptide FGA 4q28 fibrinogen, A alpha polypeptide FGG 4q28 fibrinogen, G gamma polypeptide LRAT 4q31.1-q31.23 lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) MGC27016 4q31.3 hypothetical protein MGC27016 LOC389236 4 LOC389236 NPY2R 4q31 neuropeptide Y receptor Y2 LOC389237 4 LOC389237 FLJ21159 4q31.3 hypothetical protein FLJ21159 GUCY1A3 4q31.1-q31.2 guanylate cyclase 1, soluble, alpha 3 GUCY1B3 4q31.3-q33 guanylate cyclase 1, soluble, beta 3 ACCN5 4q31.3-q32 amiloride-sensitive cation channel 5, intestinal TDO2 4q31-q32 tryptophan 2,3-dioxygenase CTSO 4q31-q32 cathepsin O FTHP2 4q31-q32 ferritin, heavy polypeptide pseudogene 2 PDGFC 4q32 platelet derived growth factor C GLRB 4q31.3 glycine receptor, beta LOC391707 4 similar to Chromatin accessibility complex protein 1 (CHRAC-1) (CHRAC-15) (HuCHRAC15) (DNA polymerase epsilon subunit p15) GRIA2 4q32-q33 glutamate receptor, ionotropic, AMPA 2 DKFZp434L142 4q32.1 hypothetical protein DKFZp434L142 FLJ11155 4q32.1 hypothetical protein FLJ11155 LGR7 4q32.1 leucine-rich repeat-containing G protein-coupled receptor 7 ETFDH 4q33 electron-transferring-flavoprotein dehydrogenase LOC389238 4 LOC389238 PPID 4q31.3 peptidylprolyl isomerase D (cyclophilin D) FLJ25371 4q32.1 hypothetical protein FLJ25371 LOC338095 4q32 proteasome activator subunit 2 pseudogene PDZGEF1 4q34-q35 PDZ domain containing guanine nucleotide exchange factor (GEF) 1 DKFZp566D234 4q32.3 hypothetical protein DKFZp566D234 LOC92345 4q32.2 hypothetical protein BC008207 LOC133332 4q32.2 mitochondrial ribosomal protein S5 pseudogene NPY1R 4q31.3-q32 neuropeptide Y receptor Y1 NPY5R 4q31-q32 neuropeptide Y receptor Y5
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 2349 64.7 617 - Olsen (2007)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Digestiveliver   highly
     mouthtongue  highly
    Lymphoid/Immunethymus   highly
    Nervousbrain    
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • FAD binding domain
  • C terminal iron- sulfur binding domain
  • conjugated FlavoP
    mono polymer monomer
    isoforms Precursor 67-kDa precursor which is targeted to mitochondria and processed in a single step to a 64-kDa mature form located in the mitochondrial membrane
    HOMOLOGY
    interspecies homolog to murine Etfdh
    Homologene
    FAMILY
  • ETF-QO/FIXC family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • electron-transferring-flavoprotein dehydrogenase in the inner mitochondrial membrane accepting electrons from electron-transfer flavoprotein
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ETFDH
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS