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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
Location 19q13.32      Physical location : 45.394.476 - 45.406.935
Synonym name
  • mitochondrial outer membrane protein
  • protein Haymaker
  • DNA segment on chromosome 19 (unique) 1177 expressed sequence
  • Synonym symbol(s) TOM40, PEREC1, C19orf1, PER-EC1, D19S1177E
    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
    Physical map
    LOC388549 19 LOC388549 ZNF285  zinc finger protein 285 ZNF229 19q13.2 zinc finger protein 229 LOC147711 19q13.32 similar to zinc finger protein 285 ZNF180 19q13.1-q13.3 zinc finger protein 180 (HHZ168) UNQ9366 19q13.32 GPAD9366 LOC388550 19 similar to CEACAM5 protein LOC390941 19 LOC390941 LOC147710 19q13.32 hypothetical LOC147710 PVR 19q13.2 poliovirus receptor CEAL1 19q13.32 carcinoembryonic antigen-like 1 LOC388551 19 similar to carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) BCL3 19q13.2 B-cell CLL/lymphoma 3 CBLC 19q13.2-q13.3 Cas-Br-M (murine) ecotropic retroviral transforming sequence c LU 19q12-q13 Lutheran blood group (Auberger b antigen included) PVRL2 19q13.2-q13.4 poliovirus receptor-related 2 (herpesvirus entry mediator B) TOMM40 19q13 translocase of outer mitochondrial membrane 40 homolog (yeast) APOE 19q13.2 apolipoprotein E APOC1 19q13.2 apolipoprotein C-I APOC4 19q13.2 apolipoprotein C-IV APOC2 19q13.2 apolipoprotein C-II CLPTM1 19q13.2 cleft lip and palate associated transmembrane protein 1 RELB 19q13.32 v-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 (avian) SFRS16 19q13.3 splicing factor, arginine/serine-rich 16 (suppressor-of-white-apricot homolog, Drosophila) ZNF342 19q13.32 zinc finger protein 342 GEMIN7 19q13.32 gem (nuclear organelle) associated protein 7 EIF5AP3 19q13.2 eukaryotic translation initiation factor 5A pseudogene 3 LOC284352 19q13.32 hypothetical protein LOC284352 FLJ33600 19q13.32 FLJ33600 protein MGC2650 19q13.32 hypothetical protein MGC2650 LOC388552 19 similar to BC043666 protein XTP7 19q13.32 protein 7 transactivated by hepatitis B virus X antigen (HBxAg) MARK4 19q13.2 MAP/microtubule affinity-regulating kinase 4
    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