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FLASH GENE
Symbol NDUFV1 contributors: mct - updated : 27-06-2018
HGNC name NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
HGNC id 7716
Corresponding disease
ALXD2 Alexander disease
NDUFV1D NDUFV1 deficiency
Location 11q13      Physical location : 67.374.322 - 67.380.012
Synonym symbol(s) UOR1, UQOR1
EC.number 1.6.5.3, 1.6.99.3
DNA
TYPE functioning gene
STRUCTURE 5.00 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas    
Reproductivemale systemtestis   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a NADH binding site
  • a FMN and a tetranuclear iron-sulfur cluster
  • mono polymer polymer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • NADH ubiquinone dehydrogenase (Q reductase)
  • NADH-CoQ reductase (complex I), transfer of electrons from NADH to the respiratory chain
  • 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
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDUFV1D , ALXD2
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS