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FLASH GENE
Symbol NNT contributors: npt/mct - updated : 25-03-2015
HGNC name nicotinamide nucleotide transhydrogenase
HGNC id 7863
RNA
TRANSCRIPTS type messenger
text two transcripts encode the same protein
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 4689 - 1086 - 1997 9524818
22 - 4655 - 1086 - 1997 9524818
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   moderately Homo sapiens
Endocrineadrenal gland   highly Homo sapiens
 thyroid   moderately Homo sapiens
Lymphoid/Immunelymph node   highly
Urinarykidney   moderately Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
Connectiveadipose    Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to bovin,murine enzymes
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm,organelle,mitochondria,inner
intracellular,cytoplasm,organelle,membrane
text
  • integral protein of the inner mitochondrial membrane
  • basic FUNCTION
  • catalyzing the reduction of NADP(+) by NADH to NADPH and NAD(+)
  • nuclear-encoded mitochondrial protein involved in detoxification of ROS (reactive oxygen species)
  • play a role in mitochondrial oxidative phosphorylation (Scotto 2008)
  • inner mitochondrial membrane transmembrane protein involved in regenerating NADPH, coupled with proton translocation across the inner membrane
  • novel role for NNT as a regulator of macrophage-mediated inflammatory responses.
  • may have a role in ROS detoxification in human adrenal glands
  • mitochondrial enzyme that transfers reducing equivalents from NADH to NADPH
  • role of NNT in regulating central carbon metabolism via redox balance, calling for other mechanisms that coordinate substrate preference to maintain a functional tricarboxylic acid (TCA) cycle
  • NNT functions is a high-capacity source of mitochondrial NADPH and its functional loss due to the NNT mutation results in mitochondrial redox abnormalities, most notably a poor ability to sustain NADP and glutathione in their reduced states
  • is the critical link between the metabolic and H2O2 antioxidant function in brain mitochondria
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    a component
  • protein constituent of the inner mitochondrial membrane
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HERPUD1 regulates insulin secretion via control of NNTt expression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FGCD4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    uncouple beta cell mitochondrial metabolism leading to less ATP production, enhanced KATP channel activity, and consequently impaired insulin secretion
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerative 
    potential therapeutic target to improve the redox balance in conditions of oxidative stress associated with neurodegenerative diseases
    ANIMAL & CELL MODELS
  • defect in Nnt function in the mouse, and specifically within the beta-cell, leads to a reduction in insulin secretion