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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
DNA
TYPE functioning gene
STRUCTURE 12.47 kb     10 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
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