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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
DNA
TYPE functioning gene
STRUCTURE 15.11 kb     5 Exon(s)    2 Copie(s)
text structure
  • a putative CIA30 pseudogene on 19p12 showing 90% identity to NDUFAF1
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1488 - 327 - 2005 16218961
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  moderately
    Nervousnervecranial nerve  highly
    Reproductivefemale systemuteruscervix highly
     male systemprostate  highly
    Urinarykidney   moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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