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FLASH GENE
Symbol NMNAT3 contributors: SGE/npt - updated : 05-10-2016
HGNC name nicotinamide nucleotide adenylyltransferase 3
HGNC id 20989
Location 3q23      Physical location : 139.279.040 - 139.396.840
Synonym name
  • pyridine nucleotide adenylyltransferase 3
  • nicotinate-nucleotide adenylyltransferase 3
  • nicotinamide mononucleotide adenylyltransferase 3
  • NMN adenylyltransferase 3
  • NaMN adenylyltransferase 3
    • Synonym symbol(s) PNAT3, PNAT-3, FKSG76
    EC.number 2.7.7.1, 2.7.7.18
    DNA
    TYPE functioning gene
    STRUCTURE 117.87 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1886 - 215 - 2005 16118205
    4 - 1808 - 163 - 2005 16118205
    7 - 2128 - 252 - 2005 16118205
    6 - 2094 - 252 - 2005 16118205
    7 - 2376 - 346 - 2005 16118205
    7 - 2506 - 142 - 2005 16118205
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythrocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a catalytic domain
  • a DTW motif
    • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine Nmnat3 (81.3pc)
    Homologene
    FAMILY
  • eukaryotic NMN adenylyltransferase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    text
  • NMNAT3 is localized to the mitochondria
  • localized in the cytoplasm of mature erythrocytes and critically regulated their NAD pool
    • basic FUNCTION
  • central enzyme in NAD biosynthesis, catalyzing the condensation of NMN or NaMN with the AMP moiety of ATP to form NAD or NaAD
  • can use GTP or ITP as nucleotide donors
  • also catalyzing the reverse reaction, i.E pyrophosphorolytic cleavage of Nad+
  • protecting against axonal degeneration following injury
  • NMNAT1, NMNAT2, NMNAT3 catalyzes the formation of nicotinamide adenine dinucleotide
  • axonal-protective effect of NMNAT3 may be involved in autophagy machinery, and that modulation of NMNAT3 and autophagy may lead to potential strategies against degenerative optic nerve disease
  • is postulated to be a mitochondrial enzyme contributing to NAD-dependent organelle functioning
  • critical roles of NMNAT3 in maintenance of the NAD pool in mature erythrocytes
  • is dispensable in the maintenance of mitochondrial NAD levels, and that other NAD regulatory pathways may exist in mitochondria
  • regulates the activity of SIRT3 via synthesis of mitochondria NAD
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism cofactor
    signaling
    NAD biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
  • ATP, GTP, ITP
  • binding divalent metal cations
    • protein
  • NMNAT3, the rate-limiting enzyme for mitochondrial NAD biosynthesis, is a new target and binding partner of SIRT3
    • cell & other
    REGULATION
    inhibited by galotannin, Nap4AD
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    can delay axon degeneration
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deficiency of Nmnat3 in mice caused splenomegaly and hemolytic anemia, which was associated with the findings that Nmnat3-deficient erythrocytes had markedly lower ATP levels and shortened lifespans