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FLASH GENE
Symbol NDUFAF1 contributors: mct - updated : 21-12-2013
HGNC name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1
HGNC id 18828
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N-terminal mitochondrial targeting sequence
  • two possible cAMP- and cGMP-dependent protein kinase phosphorylation sites
    • HOMOLOGY
    interspecies ortholog to murine Ndufaf1
    homolog to Neurospora crassa CIA30
    Homologene
    FAMILY
  • CIA30 family
    • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • involved in the assembly of the mitochondrial NADH : ubiquinone oxidoreductase complex (complex I)
  • involved in the complex I assembly process (important protein for the assembly/stability of complex I)
  • crucial component in the early assembly of complex I
    • CELLULAR PROCESS protein, post translation, folding
    PHYSIOLOGICAL PROCESS mitochondrial transport , electron transport
    text mitochondrial electron transport
    PATHWAY
    metabolism
    signaling
    a component
  • respiratory chain complex I
  • TMEM126B forms a complex with other assembly factors: NDUFAF1, ACAD9, and ECSIT
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • unfolded protein binding
  • interacting with ECSIT (Vogel 2007)
  • TIMMDC1 reciprocally associate with multiple components of the ECSIT-TMEM126B-ACAD9-NDUFAF1 assembly factor complex (MCIA complex), as well as subunits of the soluble and matrix arms
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CIA30D
    Susceptibility
    Variant & Polymorphism
    Candidate gene for complex I deficiency
    Marker
    Therapy target
    ANIMAL & CELL MODELS