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FLASH GENE
Symbol APTX contributors: mct/pgu - updated : 26-11-2010
HGNC name aprataxin
HGNC id 15984
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveesophagus   highly
 liver    
 salivary gland   highly
Endocrineparathyroid   highly
Nervousbrainhindbraincerebellum predominantly Homo sapiens
 brainlimbic systemhippocampus highly Homo sapiens
Reproductivefemale systemuteruscervix highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
NervousPurkinje cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N-terminal domain homolog to polynucleotide kinase 3'-phosphatase (PKNT) domain and FHA domain, mediating complex formation with XRCC1-DNA ligase III by interaction with phosphorylated residues in XRCC1 , targeting certain isoforms of the protein to the mitochondrial intracellular compartment
  • a nuclear localization signal (NLS)
  • a middle region including the histidine triad motif HIT, having enzymatic activity that is negatively regulated by the intramolecular interaction of the N-terminal domain
  • one C2H2 type zinc finger
  • C-terminal domain implicated in possessing general DNA binding capacity
  • HOMOLOGY
    interspecies homolog to murine Aptx (87.1pc)
    homolog to rattus Aptx (84.4pc)
    Homologene
    FAMILY
  • histidine triad superfamily of nucleotide hydrolases and transferases
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,chromatin/chromosome
    intracellular,nucleus,nucleolus
    text
  • cross-dependence between aprataxin and nucleolin in the nucleolus and its nucleolar localization is dependent on rRNA synthesis
  • localizes to mitochondria in human cells
  • Purkinje cells had both nuclear and cytoplasmic aprataxin
  • basic FUNCTION
  • involved in DNA repair in the nucleolus, through its interactions with deadenylating XRCC1 and/or other components of DNA repair
  • influencing the cellular response to genotoxic stress very likely by its capacity to interact with a number of proteins involved in DNA repair
  • may have a general proofreading function in DNA repair, removing DNA adenylates as they arise during single-strand break repair, double-strand break repair, and in base excision repair
  • having an important and direct role in single-strand break repair, that is, it removes blocking molecules from DNA 3'-ends
  • first protein to adopt canonical histidine triad-type reaction chemistry for the repair of DNA
  • possesses nick sensor activity, which is ideally suited to locate and repair 5'-DNA adenylates
  • direct and indirect modulating functions on base excision repair
  • catalyzes removal of adenosine monophosphate (AMP) from the 5 prime end of a DNA strand, which results from an aborted attempt to ligate a strand break containing a damaged end
  • having potentially a direct role in mtDNA processing
  • plays an important role in the repair of mtDNA and that defects in aprataxin expression and/or function lead to mitochondrial dysfunction and oxidative stress
  • role of TDP1 and APTX in mitochondrial DNA repair
  • CELLULAR PROCESS cell life, cell death/apoptosis
    nucleotide, repair, base excision repair
    nucleotide, repair, nucleotide excision repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • constitute with XRCC1 a multiprotein complex involved in single-strand DNA break repair
  • INTERACTION
    DNA binding
    RNA binding
    small molecule
    protein
  • interacting with XRCC1, ADPRT, TP53, XRCC4
  • interacting with several nucleolar proteins, including nucleolin, nucleophosmin and upstream binding factor-1 (UBF-1), involved in ribosomal RNA (rRNA) synthesis and cellular stress signaling
  • interaction with PARP1, APEX1 (synergistic functions of aprataxin, PARP1 and APEX1 in the cellular response to DNA damage and the modulating function of aprataxin on base excision and long patch repair)
  • XRCC1 phosphorylation affects APTX recruitment and DNA deadenylation activity
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AOA1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    result in mitochondrial dysfunction and an accumulation of mtDNA damage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    aprataxin resolves abortive DNA ligation intermediates in Aptrx-/- mouse primary neural cells