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FLASH GENE
Symbol SLC25A4 contributors: mct - updated : 11-04-2015
HGNC name solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
HGNC id 10990
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three tandemly repeated mitochondrial carrier protein domains (solcar repeats)
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Slc25a4
    Homologene
    FAMILY
  • mitochondrial carrier family
  • CATEGORY enzyme , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus
    text
  • synthesized in the cytosol, imported into mitochondria by internal targeting sequences and inserted in the inner membrane (IM)
  • basic FUNCTION
  • involved in ADP/ATP exchange across the mitochondrial inner membrane
  • bi-functional protein that transports ADP and ATP across the mitochondrial membrane, and regulates the mitochondrial permeability transition pore, involved in initiating the apoptotic response
  • involved in mitochondrial permeability transition (MPT), and accordingly in mitochondrial Ca2+ homeostasis
  • mediates cell death, not through the MPT (mitochondrial permeability transition) pore, but rather via a ROS-dependent upregulation and activation of BAX
  • involved in several aspects of cell metabolism, as well as in the regulation of cell death/survival processes
  • can be a powerful tool for regulating the plasminogen activation system in the vessel
  • central component of the mitochondrial permeability transition pore complex
  • export the ATP produced by oxidative phosphorylation (OxPhos) from the mitochondria into the cytosol while importing ADP
  • VDAC1 and SLC25A4 have central roles in mitochondrial functions such as nucleotides transport and cell death
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport
    PATHWAY
    metabolism energetic
    signaling
    a component
  • complexing with cyclophilin D (PPID) and adenine nucleotide translocases (SLC25A4, SLC25A5, ANT3X) at the inner mitochondrial permeability transition pore
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with HIV-1 VPR
  • cell & other
    REGULATION
    activated by thyroid hormones
    Other regulated by MECP2 which interacts directly with YY1
    acetylation of SLC25A4 could have dramatic physiological effects on ADP-ATP exchange
    ASSOCIATED DISORDERS
    corresponding disease(s) PEO2 , CACM2 , MTDPS12
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in muscle of FSH myopathy, and mitochondrial dysfunction may thus be initial events in FSHD
    tumoral        
    silencing induces oxidative stress and programmed cell death in glioblastoma cells
    constitutional     --other  
    dysregulation of acetylation of mitochondrial proteins such as SLC25A4 therefore could be related to changes in mitochondrial function that are associated with insulin resistance.e
    constitutional     --low  
    in sporadic inclusion body myositis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathycongenital
    increased expression represent potential therapeutic target in FSHD
    ANIMAL & CELL MODELS
    Ant1 mice develop mitochondrial myopathy associated with ragged-red fibers and abnormal mitochondria and a hypertrophic cardiopathy