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FLASH GENE
Symbol NDUFA9 contributors: mct - updated : 16-05-2013
HGNC name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
HGNC id 7693
Corresponding disease
NDUFA9D NDUFA9 deficiecy
Location 12p13.32      Physical location : 4.758.263 - 4.796.721
Synonym name
  • iron sulfur-protein 2-like
  • NADH dehydrogenase (ubiquinone) Fe-S protein 2-like (NADH-coenzyme Q reductase)
  • Synonym symbol(s) UOR2, UORL, NDUFS2L, CI39k, SDR22E1
    EC.number 1.6.99.5
    DNA
    TYPE functioning gene
    STRUCTURE 38.46 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    NRIP2 12p13.33 nuclear receptor interacting protein 2 FOXM1 12p13 forkhead box M1 MGC13204 12p13.33 hypothetical protein MGC13204 TULP3 12p13 tubby like protein 3 TEAD4 12p13.3-p13.2 TEA domain family member 4 LOC387825 12 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein NET-5 12p13.33 transmembrane 4 superfamily member tetraspan NET-5 PP1057 12p13.3 hypothetical protein PP1057 LOC390280 12 similar to RIKEN cDNA 1110014F12 HRMT1L3 12p13.3 HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae) MGC4266 12p13.33 hypothetical protein MGC4266 C12orf6 12p13.3 chromosome 12 open reading frame 6 LOC160382 12p13.32 similar to Heat shock cognate 71 kDa protein LOC390281 12 similar to ribosomal protein L18; 60S ribosomal protein L18 CCND2 12p13.32 cyclin D2 C12orf5 12p13.3 chromosome 12 open reading frame 5 FGF23 12p13.3 fibroblast growth factor 23 FGF6 12p13.32 fibroblast growth factor 6 C12orf4 12p13.3 chromosome 12 open reading frame 4 PIR51 12p13.2-p13.1 chromosome 12 open reading frame 4 DYRK4 12p13.3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 AKAP3 12p13 a kinase (PRKA) anchor protein 3 NDUFA9 12p13.3-p12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa GALNT8 12p13.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) KCNA6 12p13 potassium voltage-gated channel, shaker-related subfamily, member 6 KCNA1 12p13.32 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) LOC390282 12 similar to eukaryotic translation initiation factor 3, subunit 5 (epsilon) KCNA5 12p13.32-p13.31 potassium voltage-gated channel, shaker-related subfamily, member 5 LOC387826 12 LOC387826 NTF3 12p13.31 neurotrophin 3 TMEM16B 12p13.3 transmembrane protein 16B VWF 12p13.1 von Willebrand factor CD9 12p13.31 CD9 antigen (p24) FLJ10665 12p13.32 hypothetical protein FLJ10665 TNFRSF1A 12p13.2 tumor necrosis factor receptor superfamily, member 1A SCNN1A 12p13.3 sodium channel, nonvoltage-gated 1 alpha LTBR 12p13.31 lymphotoxin beta receptor (TNFR superfamily, member 3) LOC390283 12 hypothetical gene supported by X15940; NM_000993
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1621 - 377 - 1998 9878551
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Endocrineneuroendocrinepituitary  highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to bovine subunit
    Homologene
    FAMILY complex I NDUFA9 subunit family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • involved in the transfer of electrons from NADH to the respiratory chain
  • plays an important role in proper complex I function, probably due to its role in maintaining stability of the complex
  • involved in stabilizing the junction between membrane and matrix arms of complex I, a late assembly step critical for complex I biogenesis and activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)
  • INTERACTION
    DNA
    RNA
    small molecule
    binds 1 FAD per subunit
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDUFA9D
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS