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FLASH GENE
Symbol COQ4 contributors: mct/npt - updated : 26-02-2015
HGNC name coenzyme Q4 homolog (S. cerevisiae)
HGNC id 19693
Corresponding disease
COQ10D7 Coenzyme Q10 deficiency, primary, 7
Location 9q34.11      Physical location : 131.084.790 - 131.096.349
Synonym name
  • coenzyme Q4 homolog (yeast)
  • ubiquinone biosynthesis protein COQ4 homolog
  • Synonym symbol(s) CGI-92, RP11-339B21.5
    DNA
    TYPE functioning gene
    STRUCTURE 11.56 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure consensus binding sites for several transcription factors, some ubiquitous, like SP1, and others related to respiratory metabolism such as nuclear respiratory factor 1 (NURF1) and hypoxia inducible factor (Hif-1)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1597 - 265 - 2012 18474229
    - - - - 241 - 2012 18474229
  • lacks the mitochondrial targeting sequence
  • localized mainly to the cytosol
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Nervousbrain    
    Reproductivefemale systemuteruscervix highly
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text fetal eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a predicted N-terminal mitochondrial targeting sequence
  • HOMOLOGY
    interspecies ortholog to yeast Coq4
    Homologene
    FAMILY
  • COQ4 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus
    text
  • associated with the mitochondrial inner membrane on the matrix side
  • basic FUNCTION
  • involved in coenzyme q biosynthesis
  • may be a core component of multisubunit complex required for CoQ biosynthesis
  • potentially playing a structural role crucial in the stabilization of a multiheteromeric complex including several, if not all, of the CoQ biosynthetic enzymes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COQ10D7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS