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FLASH GENE
Symbol NDUFAF3 contributors: mct/npt - updated : 22-08-2009
HGNC name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3
HGNC id 29918
Corresponding disease
CMTND6 mitochondrial complex 1 deficiency 6
Location 3p21.31      Physical location : 49.057.907 - 49.060.924
Synonym name
  • chromosome 3 open reading frame 60
  • nuclear protein E3-3
  • Synonym symbol(s) 2P1, C3orf60, DKFZp564J0123, E3-3, MGC10527,
    DNA
    TYPE functioning gene
    STRUCTURE 3.02 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1387 - 184 - Saada (2009)
    5 - 950 - 127 - Saada (2009)
    5 - 1021 - 127 - -
    5 - 902 - 127 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal mitochondrial-targeting sequence of about 35 amino acids
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus
    text predominantly (if not exclusively) localized to the mitochondrion(strong interaction with the mitochondrial membrane, although this protein has no predicted transmembrane helices) (Saada 2009)
    basic FUNCTION
  • playing an essential role for complex I assembly (Saada 2009)
  • having a role in coupling mitochondrial translation to membrane insertion during assembly (Saada 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • predominantly interact with complex I core subunits NDUFS2 and NDUFS3 (Saada 2009)
  • bound to NDUFAF4, recruits a nuclear-DNA-encoded early assembly intermediate that contains at least NDUFS2 and NDUFS3 at the mitochondrial inner membrane (Saada 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMTND6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    2p1 (Ndufaf3) male mouse cDNA specifically expressed during meiosis (Hammami-Hamza 2003)