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FLASH GENE
Symbol NDUFAF5 contributors: mct/npt - updated : 15-01-2020
HGNC name NADH:ubiquinone oxidoreductase complex assembly factor 5
HGNC id 15899
Corresponding disease
CMTND4 mitochondrial complex 1 deficiency 4
Location 20p12.1      Physical location : -
Synonym name
  • complex I assembly factor
  • hypothetical protein LOC79133
  • chromosome 20 open reading frame 7
  • Synonym symbol(s) FLJ22324, dJ842G6.1, MGC90272, bA526K24.2, C20orf7
    EC.number 2.1.1.-
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 36.55 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 5449 38.8 345 - 2016 27226634
    10 - 5365 36 317 - 2016 27226634
    9 - 1091 - 247 - 2016 27226634
    11 - 5583 - 158 - 2016 27226634
    11 - 5469 - 158 - 2016 27226634
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrineparathyroid   highly
    Lymphoid/Immunelymph node   highly
     tonsils   highly
    Nervousbrain    
    Reproductivemale systemprostate   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • predicted N-terminal mitochondrial leader sequence
  • HOMOLOGY
    interspecies homolog to murine 2310003L22Rik
    homolog to rattus Hsd11b2
    homolog to Drosophila CG8067
    homolog to C.elegans K09E4.3
    Homologene
    FAMILY
  • methyltransferase superfamily
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    text resides on the matrix side of the inner membrane, consistent with its putative role in complex I biogenesis
    basic FUNCTION
  • playing a crucial role, for activity and/or assembly of endogenous complex I
  • involved in the assembly of an early intermediate of 400 kDa, which contains the ND1 subunit
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • catalyzes the introduction of a hydroxyl group, into Arg-73 in the NDUFS7 subunit of human complex I
  • NDUFAF8 is a potential complex I assembly factor based on its strong protein-protein interaction with the well-characterized complex I assembly factor NDUFAF5 (PMID;:
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMTND4
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS