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FLASH GENE
Symbol MFN1 contributors: mct/npt/pgu - updated : 25-08-2013
HGNC name mitofusin 1
HGNC id 18262
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