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FLASH GENE
Symbol TOMM40 contributors: mct/npt - updated : 21-08-2015
HGNC name translocase of outer mitochondrial membrane 40 homolog (yeast)
HGNC id 18001
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 1724 37 361 - 2013 23626796
10 - 1727 - 361 - 2013 23626796
9 - 1819 - 361 - 2013 23626796
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivesalivary gland   highly
Lymphoid/Immunetonsils   highly
Nervousgangliasensory gangliadorsal root  
Reproductivemale systemprostate   
Skin/Tegumentskin   highly
Urinarykidney    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • TOM40 family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus,nucleoplasm
    intracellular,nuclear envelope,pore
    text localized on the mitochondrial outer membrane (Kinoshita 2007)
    basic FUNCTION
  • playing an essential role for the import of protein precursors into the mitochondria and an active role in protein sorting for all sub-mitochondrial locations
  • import channel essential for protein import into mitochondria
  • facilitate translocation of unfolded proteins from the cytosol into the mitochondrial intermembrane space
  • TOMM40 complex is a protein translocator in the mitochondrial outer membrane and consists of several different subunits
  • is a central subunit that constitutes a protein-conducting channel by forming a beta-barrel structure
  • mediates mitochondrial dysfunction induced by SNCA accumulation in Parkinson disease
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM complex)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts directly with precursors to help them translocate across the outer membrane
  • MINOS1 interacts with TOMM40 and SAMM50 independently and the core subunit IMMT is involved in biogenesis of outer membrane beta-barrel proteins
  • cell & other
    REGULATION
    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
  • to late-onset Alzheimer disease (LOAD)
  • to amnestic mild cognitive impairment
  • Variant & Polymorphism other
  • risk alleles were approximately twice as frequent in AD subjects with hippocampal atrophy as controls (Potkin 2009)
  • TOMM40 rs157581 polymorphism may modulate regional spontaneous brain activity and related to the progression of amnestic mild cognitive impairment (aMCI)
  • Candidate gene
    Marker
  • TOMM40 downregulation, found in the brain in severe AD may be a potential marker for AD, disease severity or progression
  • Therapy target
    ANIMAL & CELL MODELS