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FLASH GENE
Symbol ATAD3A contributors: mct - updated : 16-11-2017
HGNC name ATPase family, AAA domain containing 3A
HGNC id 25567
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
  • transmembrane ATPase, which is predicted to form hexamers
  • 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
    constitutional fusion      
    ATAD3A-C fusion protein is uniquely associated with the severe neonatal phenotype and therefore is likely causal
    constitutional   translocation    
    genomic rearrangements affecting the ATAD3C/ATAD3B genes on one allele and ATAD3B/ATAD3A genes on the other displays later-onset encephalopathy with cerebellar atrophy, ataxia and dystonia
    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