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FLASH GENE
Symbol NDUFS3 contributors: mct - updated : 29-08- 201
HGNC name NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
HGNC id 7710
Corresponding disease
NDUFS3 Leigh syndrome, late onset
Location 11p11.2      Physical location : 47.600.561 - 47.606.115
Synonym name
  • iron-sulfur protein 3
  • NADH-ubiquinone oxidoreductase 30 kDa subunit
  • Synonym symbol(s) CI-30kD
    EC.number 1.6.5.3/1.6.99.3
    DNA
    TYPE functioning gene
    STRUCTURE 5.55 kb     7 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
    7 - 971 30.1 264 - 2007 17209039
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestivepancreas exocrine   highly
     stomach   moderately
    endocrinebraindiencephalonpituitary  
    Endocrineneuroendocrinepituitary  moderately
     parathyroid   predominantly
    Skin/Tegumentskin   moderately
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text moderately in umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • casein kinase 2 phosphorylation site
  • possible mitochondrial targeting sequence
  • HOMOLOGY
    interspecies homolog to rattus Ndufs3 (85.9 pc)
    homolog to murine Ndufs3 (87.8 pc)
    Homologene
    FAMILY
  • complex I 30 kDa subunit family
  • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text mitochondrial respiratory chain complex I
    basic FUNCTION
  • acting as an NADH ubiquinone oxidoreductase (Q reductase)
  • critical regulator of mitochondrial complex I assembly
  • its expression is a robust indicator of aggressive tumor phenotype in clinical specimens
  • CELLULAR PROCESS cell life, proliferation/growth
    cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS electron transport
    text induction of apoptosis (involved in the first step in GZMA-induced cell death, by cleavage)
  • negative regulation of cell growth
  • electron carrier
  • PATHWAY
    metabolism other
    signaling
    oxygen and reactive oxygen species metabolic process
    a component
  • component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • NAD+
  • protein
    cell & other
    REGULATION
    Other cleaved by GZMA
    ASSOCIATED DISORDERS
    corresponding disease(s) NDUFS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in invasive breast cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • robust indicator of breast cancer progression and invasiveness as well as of hypoxia/necrosis in clinical specimens of invasive ductal carcinoma
  • Therapy target
    ANIMAL & CELL MODELS