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FLASH GENE
Symbol MFN1 contributors: mct/npt/pgu - updated : 25-08-2013
HGNC name mitofusin 1
HGNC id 18262
Location 3q26.32      Physical location : 179.065.479 - 179.111.006
Synonym name
  • putative transmembrane GTPase
  • mitochondrial transmembrane GTPase FZO-2
  • Fzo homolog
  • transmembrane GTPase MFN1
  • Synonym symbol(s) FLJ20693, MGC41806, hfzo1, hfzo2, DKFZp762F247
    EC.number 3.6.5.-
    DNA
    TYPE functioning gene
    STRUCTURE 45.53 kb     19 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
    19 splicing 3527 84 741 - 2003 12759376
    - splicing 3400 - 370 - 2003 12759376
    lacks an exon, results in a frameshift and an earlier stop codon
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Hearing/Equilibriumear   highly
    Nervousbrain    
    Reproductivemale systemtestis   
    Respiratoryrespiratory tracttrachea  highly
    Skin/Tegumentskin   highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N-terminal GTPase domain
  • a transmembrane domain
  • two coiled-coil regions
  • conjugated ubiquitinated
    HOMOLOGY
    Homologene
    FAMILY
  • mitofusin family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus
    basic FUNCTION
  • contributes to the dynamic balance between fusion and fission that determines mitochondria morphology
  • GTPase activity
  • crucial for mitochondrial docking and fusion
  • outer mitochondrial membrane protein involved in regulating mitochondrial dynamics
  • role for mitofusins in directly regulating mitochondrial transport and offer important insight into the cell type specificity and molecular mechanisms of axonal degeneration in CMT2A and dominant optic atrophy
  • prevents endonuclease G release from mitochondria and the consequent DNA fragmentation
  • ubiquitination of MFN1 and MFN2 play a role in PINK1/PARK2-mediated mitophagy
  • MFN1 and MFN2 function to maintain mitochondrial networks by binding one another and initiating outer mitochondrial membrane fusion
  • mitochondrial dynamics, particularly those mediated by the mitofusins, play a role in endothelial cell function and viability
  • potential role in regulating the activation of BAX on the outer mitochondrial membrane in a GTPase-dependent manner
  • MFN1, MFN2, PARK2 regulating mitochondrial spheroid formation and mitophagy that could represent different strategies of mitochondrial homeostatic response to oxidative stress
  • novel role for the ER-associated AMFR ubiquitin ligase and the MFN1 mitochondrial fusion factor in mitophagy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact with mammalian Miro (RHOT1/RHOT2) and Milton (TRAK1/TRAK2) proteins, members of the molecular complex that links mitochondria to kinesin motors
  • PARK2 interacts with and selectively mediates the atypical poly-ubiquitination of MFN1, leading to its enhanced turnover by proteasomal degradation
  • functional relationship between FBXO7 and mitofusin 1
  • AMFR localizes to mitochondria-associated ER and targets the mitofusin (MFN1 and MFN2) mitochondrial fusion proteins for degradation
  • cell & other
    REGULATION
    Other ubiquitin proteasome system (UPS) is involved in MFN1, MFN2 degradation
    ubiquitinated in a PINK1/PARK2-dependent manner upon induction of mitophagy
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    found in Huntington disease patients relative to the controls
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • ablation of mitochondrial fusion proteins Mfn1 and Mfn2 in the embryonic mouse heart arrested mouse heart development and impaired differentiation of ESCs into cardiomyocytes