Property Summary

NCBI Gene PubMed Count 56
Grant Count 56
R01 Count 32
Funding $10,259,233.1
PubMed Score 71.29
PubTator Score 85.73

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.860 0.000
subependymal giant cell astrocytoma 1.600 0.036

Synonym

Accession Q9HAN9 B1AN63 Q8TAE9 Q9H247 Q9H6B6 NMN/NaMN adenylyltransferase 1
Symbols LCA9
NMNAT
PNAT1

Gene

PANTHER Protein Class (2)

PDB

1GZU   1KKU   1KQN   1KQO   1KR2  

Gene RIF (30)

PMID Text
26464178 We confirmed a diagnosis of NMNAT1-associated Leber congenital amaurosis in two siblings through identification of the mutation (c.25G>A [p. Val9Met]) in a homozygous state.
26316326 Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
26018082 To study how mutations affect NMNAT1 function and ultimately lead to a retinal degeneration phenotype, we performed detailed analysis of Leber congenital amaurosis 9-associated NMNAT1 mutants.
25988908 NMNAT1, which encodes the nicotinamide mononucleotide adenylyltransferase 1, has been recently identified to be one of the LCA-causing genes. Our results expanded the spectrum of mutations in NMNAT1
24940029 The aim of this study was to determine the occurrence and frequency of NMNAT1 mutations and associated phenotypes in different types of inherited retinal dystrophies.
24830548 theNMNAT1 p.Glu257Lys variant is a hypomorphic variant that almost without exception causes leber congenital amaurosis (LCA) in combination with more severe NMNAT1 variants.
23940504 Data found pathogenic DNA variants in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases.
23737528 NMNAT1 deletion in tumors may contribute to transformation by increasing ribosomal RNA synthesis.
23351689 mutations in nicotinamide nucleotide adenylyltransferase 1(NMNAT1) cause Leber congenital amaurosis
22842230 A new disease mechanism underlying Leber congential amaurosis and the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder.
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AA Sequence

MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMA      1 - 70
ELATKNSKWVEVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKS     71 - 140
LEPKTKAVPKVKLLCGADLLESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNI    141 - 210
HVVNEWIANDISSTKIRRALRRGQSIRYLVPDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT     211 - 279
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Text Mined References (61)

PMID Year Title
27257257 2016 ADP-ribose-derived nuclear ATP synthesis by NUDIX5 is required for chromatin remodeling.
26464178 2015 Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
26316326 2015 Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
26018082 2015 Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.
25988908 2015 A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.
25416956 2014 A proteome-scale map of the human interactome network.
24940029 2014 Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
24830548 2014 Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23968695 2013 NMNATs, evolutionarily conserved neuronal maintenance factors.
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