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FLASH GENE
Symbol ATAD3C contributors: npt/mct - updated : 16-11-2019
HGNC name ATPase family, AAA domain containing 3C
HGNC id 32151
Location 1p36.33      Physical location : 1.385.068 - 1.405.538
Synonym name ATPase family, AAA domain containing 3A
Synonym symbol(s) FLJ34599, FLJ37183
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
text
  • 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 20.47 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 3859 46.2 411 - 2011 22192748
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • AAA ATPase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • has displacement loop binding properties and is involved in mitochondrial nucleoid organization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional fusion      
    uniquely associated with the severe neonatal phenotype and therefore is likely causal
    tumoral     --low  
    in hepatocellular carcinomatissues compared with normal liver tissues
    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
    Therapy target
    ANIMAL & CELL MODELS