NMNAT1 (nicotinamide nucleotide adenylyltransferase 1)

2013-12-01  

Identity

HGNC
LOCATION
1p36.22
LOCUSID
ALIAS
LCA9,NMNAT,PNAT1,SHILCA
FUSION GENES

Other Information

Locus ID:

NCBI: 64802
MIM: 608700
HGNC: 17877
Ensembl: ENSG00000173614

Variants:

dbSNP: 64802
ClinVar: 64802
TCGA: ENSG00000173614
COSMIC: NMNAT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173614ENST00000377205Q9HAN9
ENSG00000173614ENST00000377205A0A024R4E1
ENSG00000173614ENST00000403197B1AN62
ENSG00000173614ENST00000462686Q9HAN9
ENSG00000173614ENST00000462686A0A024R4E1
ENSG00000173614ENST00000496751K7EPD7

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Nicotinate and nicotinamide metabolismKEGGko00760
Nicotinate and nicotinamide metabolismKEGGhsa00760
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Nicotinate metabolismREACTOMER-HSA-196807

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
161182052005Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.174
194038202009Nicotinamide mononucleotide adenylyl transferase-mediated axonal protection requires enzymatic activity but not increased levels of neuronal nicotinamide adenine dinucleotide.109
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
228422302012Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.71
194582232009Transgenic mice expressing the Nmnat1 protein manifest robust delay in axonal degeneration in vivo.67
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
228422292012Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.52
125741642003Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis.42
173604272007Regulation of poly(ADP-ribose) polymerase 1 activity by the phosphorylation state of the nuclear NAD biosynthetic enzyme NMN adenylyl transferase 1.41
209266552010Targeting NMNAT1 to axons and synapses transforms its neuroprotective potency in vivo.41

Citation

Dessen P

NMNAT1 (nicotinamide nucleotide adenylyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-12-01

Online version: http://atlasgeneticsoncology.org/gene/53628/nmnat1