Quick Search:

  • Top 5 genes

    Top 5 diseases

    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4583
    • SNVs : 3411
    • InDels : 1172
    • Last Update : 05/11/2017

    Detailed information for NMNAT1






    Basic information
    Official symbolNMNAT1
    Official full namenicotinamide nucleotide adenylyltransferase 1
    Location1p36.22
    Gene typeprotein-coding
    SynonymsLCA9|NMNAT|PNAT1
    Quick linksEntrez ID:64802; HGNC:17877; MIM:608700; Ensembl:ENSG00000173614; HPRD:16369; Vega:OTTHUMG00000001799
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0043168anion binding24024026.721.500.00480.0336
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr11000248510046556608553Leber congenital amaurosis 936087001p36.22
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1100024851004655664802Nmnat1MGI:1913704MP:0003012no phenotypic analysis
    chr1100024851004655664802Nmnat1MGI:1913704MP:0003631nervous system phenotype
    chr1100024851004655664802Nmnat1MGI:1913704MP:0005376homeostasis/metabolism phenotype
    chr1100024851004655664802Nmnat1MGI:1913704MP:0005386behavior/neurological phenotype
    chr1100024851004655664802Nmnat1MGI:1913704MP:0005391vision/eye phenotype
    chr1100024851004655664802Nmnat1MGI:1913704MP:0010768mortality/aging
    Mutation spectrum

    If you cannot see the mutation spectrum below, please download and install the SVG plugin by clicking here.

    Gene-disease network

    If you cannot see the gene-disease network below, please download and install the SVG plugin by clicking here.


    Contact us if you are an author of a study regarding this gene and do not find your study in RetinoGenetics or find errors in the representation of your study details.