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FLASH GENE
Symbol ATAD3A contributors: mct - updated : 16-11-2016
HGNC name ATPase family, AAA domain containing 3A
HGNC id 25567
Corresponding disease
ATAD3AD ATAD3A deficiency
Location 1p36.33      Physical location : 1.447.522 - 1.470.067
Synonym symbol(s) FLJ10709, FLJ35514
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
text
  • ATAD3A and ATAD3B, are located in tandem on chromosome 1p36.33
  • ATAD3A, ATAD3B, and ATAD3C positioned in tandem on chromosome 1p36.33 and appears to have recently evolved by duplication of a single ancestral gene
  • STRUCTURE 22.54 kb     16 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 2656 71.2 634 - 2010 20332122
    16 - 2512 - 586 - 2010 20332122
    16 - 2342 - 507 - 2010 20332122
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemuteruscervix highly
    Skin/Tegumentskin   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal part of ATAD3A is outside the inner mitochondrial membrane, having two coiled-coil domains with high oligomerization probability within the N terminus
  • a predicted transmembrane segment in the central part of the molecule
  • a VLEAL motif, directly contributing to the interaction with S100B
  • an "IQ motif" (residues 300 to 305) is also present which could contribute to the interaction with S100B (this binding domain may represent a consensus Ca2+-dependent S100B binding sequence)
  • C-terminal part is inside the matrix , with a conserved ATPase domain
  • HOMOLOGY
    intraspecies paralog to ATAD3B
    paralog to ATAD3C
    Homologene
    FAMILY
  • AAA+ ATPase ATAD3 protein family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text
  • anchored in the inner mitochondrial membrane and is enriched in outer-inner mitochondrial membrane contact sites
  • basic FUNCTION
  • has displacement loop binding properties and is involved in mitochondrial nucleoid organization
  • mitochondrial and a major calcium-dependent S100B binding protein
  • regulates mitochondrial dynamics at the interface between the inner and outer membranes and controls diverse cell responses ranging from mitochondrial metabolism, cell growth, and mitochondrial fission
  • ATAD3A was associated with prostate specific antigen (PSA) secretion and drug resistance in prostate cancer (PCa)
  • is present in five native mitochondrial protein complexes of different sizes, indicating complex roles of the protein in mitochondrial architecture and function
  • role of ATAD3A in the delivery of the substrate cholesterol into the mitochondria
  • ATAD3A-mediated, mitochondria-associated membranes (MAMs) formation participates in the optimal transfer of cholesterol from the ER into mitochondria for steroidogenesis
  • nuclear-encoded mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism
  • function of ATAD3A in mitochondrial dynamics
  • is required to maintain the proper size and number of mitochondria in neurons and muscles
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of many, but not all, mitochondrial nucleoids
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP binding
  • protein
  • S100B-ATAD3A interaction could significantly increase the calcium affinity by decreasing the off rate of calcium, which was observed previously for S100B and for other S100-target protein interactions
  • interaction of ATAD3A with MFN2, OPA1, and DNM1L, suggesting that ATAD3A may affect mitochondrial dynamics via interaction with these proteins
  • ATAD3B is a negative regulator of ATAD3A and may function as an adaptor of mitochondrial homeostasis and metabolism in hESCs and cancer cells
  • ATAD3A interacts with the WASF3 metastasis-promoting protein
  • stabilization of WASF3 function occurs through its interaction with ATAD3A and HSPA5, which may provide a bridge between the ER and mitochondria, allowing communication between the two organelles
  • ATAD3A interacted with COA3, a subunit of the cytochrome oxidase (COX)-assembly complex
  • simultaneously interacts with the outer and inner mitochondrial membranes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ATAD3AD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    of ATAD3A/ATAD3B may be involved in the transformation pathway and the chemosensitivity of oligodendrogliomas (
    tumoral     --over  
    associated with poor survival in breast cancer patients
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • could be an anti-apoptotic marker in lung adenocarcinoma
  • Therapy target
    ANIMAL & CELL MODELS
    Atad3-deficient embryos die around E7.5 due to growth retardation and a defective development of the trophoblast lineage; heterozygotes seem unaffected