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FLASH GENE
Symbol NMNAT1 contributors: mct - updated : 05-10-2016
HGNC name nicotinamide nucleotide adenylyltransferase 1
HGNC id 17877
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 3781 - 279 - 2003 12574164
5 - 3796 - 279 - 2003 12574164
5 - 1100 - 160 - 2003 12574164
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveintestinelarge intestinecolon  
 liver    
Endocrinepancreas    
Nervousbrain    
Reproductivefemale systemplacenta   
Urinarykidney   highly
Visualeyelens   
 eyeretina    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningretinal pigment epithelium (RPE)  
Muscularstriatumskeletal highly
cells
SystemCellPubmedSpeciesStageRna symbol
Respiratoryepithelial cell
cell lineage
cell lines cancer cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • cytidylyl transferase domain
  • one KRAB domain
  • conjugated PhosphoP
    mono polymer homomer , hexamer
    HOMOLOGY
    interspecies homolog to murine Nmat1 (82.4pc)
    homolog to rattus Nmat1 (82.7pc)
    Homologene
    FAMILY
  • NMN adenylyltransferase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • having nucleotidyltransferase activity
  • catalysing the transfer of the adenylyl group from ATP to NMN (or NaMN) to form NAD (or NaAD) (Zhang 2003)
  • also catalyzes the pyrophospholytic cleavage of NAD(+)
  • protects against axonal degeneration following mechanical or toxic insult
  • NMNAT1, NMNAT2, NMNAT3 catalyzes the formation of nicotinamide adenine dinucleotide
  • enzymatic activities of NMNAT1 and PARP1 is linked to the regulation of a set of common target genes through functional interactions at target gene promoters
  • NMNAT1 protects retinal ganglion cells against high glucose-induced injury via MAPK14 signaling pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism cofactor
    signaling
    NAD(+) metabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor, nucleotide,
  • cofactor divalent metal cations, Zn2+, Mg2+
  • AMP binding
  • protein
  • interacting with ADPRT
  • binding to activated, automodifying PARP1 and thereby amplifies poly(ADP-ribosyl)ation (Berger 2007)
  • PARP1 recruits NMNAT1 to promoters where it produces NAD(+) to support PARP1 catalytic activity, but also enhances the enzymatic activity of PARP1 independently of NAD(+) production
  • NMNAT1 interacts with the nucleolar repressor protein RRP8 and is involved in regulating rRNA transcription
  • NMNAT1 expression stimulates the deacetylase function of SIRT1
  • cell & other
    REGULATION
    induced by by DNA damage and NMNAT1 plays a role in preventing cell death after damage
    inhibited by galotannin and NAP4AD
    Other phosphorylated by PKC
    ASSOCIATED DISORDERS
    corresponding disease(s) LCA9
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    has been shown to be neuroprotective against axonal injury in the peripheral nervous system
    constitutional     --over  
    can delay axon degeneration
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabete  
    may serve as a neuroprotective target for diabetes mellitus-related retinal neuropathy
    ANIMAL & CELL MODELS
  • gain-of-function mutations in the mouse Nmnat1
  • produce two remarkable phenotypes: protection against traumatic axonal degeneration and reduced hypoxic brain injury