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FLASH GENE
Symbol COA3 contributors: mct - updated : 18-03-2015
HGNC name cytochrome c oxidase assembly factor 3
HGNC id 24990
Location 17q21.2      Physical location : -
Synonym name
  • HSPC009 protein
  • coiled-coil domain containing 56
  • cytochrome C oxidase assembly factor 3 homolog, mitochondrial
  • mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 12 kDa
    • Synonym symbol(s) HSPC009, CCDC56, COX25, MITRAC12
    DNA
    TYPE functioning gene
    STRUCTURE 1.11 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 808 11.7 106 - 2012 22610097
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivesalivary gland    
    Endocrineparathyroid   highly
    Nervousnervecranial nerve   
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a single pass transmembrane domain (from AAs 58 to 78)
  • a protein-protein interaction coiled coil domain (from AAs 79 to 104)
  • C terminus exposed to the intermembrane space (IMS)
    • HOMOLOGY
    interspecies homolog to Drosophila CG42630
    ortholog to murine Ccdc56
    Homologene
    FAMILY coiled coil domain-containing family of protein
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text
  • efficiently imported into mitochondria and became protected against protease treatment
    • basic FUNCTION
  • COA3 and COX14 are essential for negative feedback regulation of COX1 translation in mitochondria
  • important role for COA3 in the oxidative phosphorylation system and in particular in COX function
  • plays a critical role in the biogenesis and activity of complex IV and is therefore essential for the function of the OXPHOS system
  • inner-mitochondrial-membrane protein with its C terminus exposed to the intermembrane space (IMS)
  • is a new factor essential for COX biogenesis
  • stabilizes COX1 co-translationally and promotes its assembly with COX partner subunits
  • positively regulates mitochondrial fission via regulation of COX activity and the mitochondrial recruitment of DNM1L
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • COA3 and COX14 form assembly intermediates with newly synthesized COX1 and are required for MSS51 association with these complexes
  • COA3 interacted with newly synthesized COX1
  • specific role of COA3 in COX1 translation, indicating a tight coupling between complex assembly and the translational regulation of its core subunit
  • interacts with both the mitochondrial translation machinery and COX structural subunits
  • ATAD3A interacted with COA3, a subunit of the cytochrome oxidase (COX)-assembly complex
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    induces a complex IV assembly defect
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • new candidate when screening for genes responsible for mitochondrial diseases associated with COX deficiency
    • Marker
    Therapy target
    ANIMAL & CELL MODELS