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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
Corresponding disease
CACM2 congenital cataract and mitochondrial myopathy 2
MTDPS12 mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
PEO2 progressive external ophthalmoplegia 2
Location 4q35.1      Physical location : 186.064.416 - 186.071.537
Synonym name
  • ADP/ATP translocase 1
  • ADP,ATP carrier protein, heart/skeletal muscle
  • tissue-type plasminogen activator
  • ADP,ATP carrier protein 1
    • Synonym symbol(s) ANT1, T1, PEO3, t-PA
    DNA
    TYPE functioning gene
    STRUCTURE 71.22 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - D4S171 ,SLC25A4 - F11 F11 - D4S187 - D4S163 - D4S139 - FSHMD1A - qter
    Text see FSHMD1A
    RNA
    TRANSCRIPTS type messenger
    text with an isoform expressed in heart and skeletal muscle
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 4420 32.9 298 - 1998 9820802
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus   highly
    Cardiovascularheart   highly Homo sapiens
    Endocrineneuroendocrinepituitary  highly
    Nervousbrain   specific Homo sapiens
     nervecranial nerve  highly Homo sapiens
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadiposebrown   Homo sapiensAdultmRNA
    Muscularstriatumskeletal specific Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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