Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol NDUFB6 contributors: npt/mct - updated : 03-09-2010
HGNC name NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa
HGNC id 7701
Location 9p21.1      Physical location : 32.553.522 - 32.573.182
Synonym name
  • NADH-ubiquinone oxidoreductase B17 subunit
  • complex I, mitochondrial respiratory chain, B17 subunit
  • NADH-ubiquinone oxidoreductase beta subunit, 6
  • complex I-B17
  • Synonym symbol(s) B17, CI, MGC13675, NDUFB17, CI-B17
    EC.number 1.6.5.3, 1.6.99.3
    DNA
    TYPE functioning gene
    STRUCTURE 19.66 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC392300 9 similar to High mobility group protein 4-like (HMG-4L) LOC392301 9 similar to ADP,ATP carrier protein, fibroblast isoform (ADP/ATP translocase 2) (Adenine nucleotide translocator 2) (ANT 2) ACO1 9p22-p13 aconitase 1, soluble RIG-I 9p12 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide TOPORS 9p21 topoisomerase I binding, arginine/serine-rich NDUFB6 9p13.2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa TAF1L 9p13.3 TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa LOC389710 9 similar to hypothetical protein (L1H 3 region) - human LOC392302 9 similar to argininosuccinate synthetase APTX 9p13.3 aprataxin DNAJA1 9p13-p12 DnaJ (Hsp40) homolog, subfamily A, member 1 SMU-1 9p12 homolog of C. elegans smu-1 B4GALT1 9p13 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 SPINK4 9p12 serine protease inhibitor, Kazal type 4 BAG1 9p12 BCL2-associated athanogene HSPC177 NFX1 9p12 nuclear transcription factor, X-box binding 1 AQP7 9p13 aquaporin 7 AQP3 9p13 aquaporin 3 NOL6 9p13.2 nucleolar protein family 6 (RNA-associated) bA255A11.3 9p12 FLJ35740 pseudogene LOC389711 9 similar to hypothetical protein DKFZp434F1719
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 862 - 128 - Benit (2001)
    3 - 817 - 113 - Benit (2001)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineparathyroid   highly
    Hearing/Equilibriumearinnercochlea highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • complex I NDUFB6 subunit family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • transfer of electrons from NADH to the respiratory chain
  • having NADH dehydrogenase activity and oxidoreductase activity
  • is required for activity of mitochondrial complex I in human cell lines
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component beta 6, hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by thyroid hormones
    ASSOCIATED DISORDERS
    corresponding disease(s)
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in muscle from diabetic patients (Ling 2007)
    constitutional       loss of function
    in patients presenting a Complex I defect
    Susceptibility to age-dependent insulin resistance
    Variant & Polymorphism other rs629566 G/G genotype exhibited higher muscle NDUFB6 expression, but is associated with reduced expression in elderly subjects, and degree of DNA methylation correlated negatively with muscle NDUFB6 expression, which in turn was associated with insulin sensitivity (Ling 2007)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS