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FLASH GENE
Symbol NDUFS1 contributors: mct - updated : 16-10-2010
HGNC name NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
HGNC id 7707
Corresponding disease
NDUFS1 mitochondrial complex 1 deficiency
Location 2q33.3      Physical location : 206.987.803 - 207.024.187
Synonym name
  • complex I 75kDa subunit
  • NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
  • Synonym symbol(s) PRO1304, MGC26839, CI-75kD
    EC.number 1.6.5.3, 1.6.99.3
    DNA
    TYPE functioning gene
    STRUCTURE 36.39 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    ALS2CR19 2q33 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19 NRP2 2q34 neuropilin 2 LOC391473 2 similar to cyclophilin A FLJ20309 2q33.3 hypothetical protein FLJ20309 NDUFS1 2q33-q34 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) EEF1B2 2q33 eukaryotic translation elongation factor 1 beta 2 GPR1 2q33.3 G protein-coupled receptor 1 KIAA1571 2q34 KIAA1571 protein LOC391474 2 hypothetical gene supported by AK123581 ADAM23 2q33 a disintegrin and metalloproteinase domain 23 LOC200726 2q34 hypothetical LOC200726 LOC391475 2 similar to Down syndrome critical region protein 3 (Down syndrome critical region protein A) LOC130752 KIAA0971 2p23.3-q34 Homo sapiens KIAA0971 protein (KIAA0971), mRNA. CPO 3q12 coproporphyrinogen oxidase (coproporphyria, harderoporphyria) KLF7 2q32 Kruppel-like factor 7 (ubiquitous) LOC389071 2 LOC389071 CREB1 2q32-q34 cAMP responsive element binding protein 1 LOC151194 2q34 similar to hepatocellular carcinoma-associated antigen HCA557b LOC391476 2 similar to PPP1R14B protein FLJ40432 2q34 hypothetical protein FLJ40432 FZD5 2q33-q34 frizzled homolog 5 (Drosophila) LOC389072 2 similar to RIKEN cDNA 9430067K14 gene; Ras GTPase-activating protein 1 (GTPase-activating protein) (GAP) (Ras p21 protein activator) (p120GAP) (RasGAP) LOC391477 2 similar to ribosomal protein L9; 60S ribosomal protein L9 LOC344471 2q34 similar to dJ999L4.1 (novel protein similar to ribosomal protein L12 (RPL12))
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 3417 79.5 727 - 1998 9878551
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    Epithelialbarrier/lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
     digestive
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    secondary structure thirty different subunits
    mono polymer polymer
    HOMOLOGY
    interspecies homolog to bovine NDUFS1
    homolog to C.elegans y45-g12b.1
    Homologene
    FAMILY
  • complex 1, 75kDa subunit family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • NADH ubiquinone dehydrogenase (Q reductase)
  • NADH-Coq reductase (complex I),Fe-S subunit
  • contains 3 iron–sulfur clusters, N1b, N4 and N5 and plays an important role in the electron transfer
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)
  • largest subunit of complex I and is located in the iron–sulfur fragment of the enzyme
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDUFS1
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS