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FLASH GENE
Symbol COX17 contributors: mct/npt - updated : 15-09-2012
HGNC name COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)
HGNC id 2264
Location 3q13.33      Physical location : 119.388.371 - 119.396.243
Synonym name
  • COX17 homolog, cytochrome c oxidase assembly protein (yeast)
  • human homolog of yeast mitochondrial copper recruitment
  • mitochondrial copper recruitment gene
    • Synonym symbol(s) MGC104397, MGC117386
    DNA
    TYPE functioning gene
    STRUCTURE 7.87 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 423 7 63 - 2008 18093982
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineneuroendocrinepituitary  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a twin CX9C motif and a Cys-Cys motif at the N terminus involved in copper binding
  • a CHCH motif of about 40 AAs plus an unstructured, flexible N-terminal tail of about 15 AAs
  • a cysteine rich motif
  • six conserved Cys residues
  • two additional cysteine residues also conserved in metallothionein 1
    • secondary structure
  • the inner disulfide of COX17 is the essential one for producing a single conformational state of the protein, playing a key structural role in the CHCH fold, whereas the outer disulfide bond defines the copper binding site structural environment of COX17
    • HOMOLOGY
    interspecies homolog to yeast S.cerevisiae cox17p
    Homologene
    FAMILY
  • COX17 family
    • CATEGORY chaperone/stress , enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,interspace
    basic FUNCTION
  • copper chaperone for cytochrome-c oxidase, involved in targeting copper to mitochondria
  • copper-binding protein, which facilitates incorporation of copper ions into Cu(A) site of cytochrome c oxidase
  • key mitochondrial copper chaperone involved in the assembly of cytochrome c oxidase (COX)
  • can play a role within intermembrane space for tightly controling the copper concentration, similar to what it has been found in the cytoplasm where several systems of cellular copper transport, involving also ATOX1, have been discovered
  • mitochondrial copper chaperone responsible for supplying copper ions, through the assistance of SCO1, SCO2, and COX11, to cytochrome c oxidase
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text copper ion
    PATHWAY
    metabolism energetic
    signaling
    a component
  • component of the cytochrome oxidace c (ferrocytochrome c : oxygen oxidoreductase) complex, terminal enzyme in the mitochondrial respiratory chain (oxidative phosphorylation OXPHOS), catalyzing the elctron transfer from reduced cytochrome c to molecule oxygen
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • substrate of CHCHD4
    • cell & other
    REGULATION
    activated by copper supplementation that increased COX17
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in non-small cell lung cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS