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FLASH GENE
Symbol MT-ND1 contributors: mct/ - updated : 19-08-2009
HGNC name mitochondrially encoded NADH dehydrogenase 1
HGNC id 7455
Corresponding disease
LHON Leber hereditary optic neuropathy
MELAS mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome
MTCMH5D cardiomyopathy hypertrophic, 5 with diabetes
WFSMT Wolfram syndrome with multiple mitochondrial deletions
Location mt      Physical location : -
Synonym name
  • NADH-ubiquinone oxidoreductase chain 1
  • NADH dehydrogenase subunit 1
  • NADH dehydrogenase 1
  • complex I ND1 subunit
    • Synonym symbol(s) ND1, MTND1, NADH1, NAD1
    EC.number 1.6.5.3
    DNA
    TYPE functioning gene
    STRUCTURE 0.96 kb     1 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    mono polymer heteromer , complex
    HOMOLOGY
    interspecies ortholog to murine Mt-Nd1
    homolog to C.elegans F15A2.4
    Homologene
    FAMILY
  • complex I subunit 1 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • catalysing reduction of ubiquinone on ubiquinol by NADH in the respiratory chain
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism energetic
    signaling
    a component
  • one of the forty one subunits of complex I, located in the hydrophobic fragment
    • INTERACTION
    DNA
    RNA
    small molecule other,
  • rotenone and its analogs
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LHON , MELAS , MTCMH5D , WFSMT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    point mutations in sudden infant death syndrome
    tumoral somatic mutation      
    in colorectal cancer
    Susceptibility
  • Alzheimer
  • Parkinson
    • Variant & Polymorphism 4216T>C increases the risk of Parkinson disease among healthy aged people
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS