NMNAT3 (nicotinamide nucleotide adenylyltransferase 3)

2018-11-01  

Identity

HGNC
LOCATION
3q23
LOCUSID
ALIAS
FKSG76,PNAT-3,PNAT3
FUSION GENES

Other Information

Locus ID:

NCBI: 349565
MIM: 608702
HGNC: 20989
Ensembl: ENSG00000163864

Variants:

dbSNP: 349565
ClinVar: 349565
TCGA: ENSG00000163864
COSMIC: NMNAT3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163864ENST00000296202Q96T66
ENSG00000163864ENST00000339837Q96T66
ENSG00000163864ENST00000413939Q96T66
ENSG00000163864ENST00000506254D6R975
ENSG00000163864ENST00000509291D6RHV4
ENSG00000163864ENST00000511444D6REC8
ENSG00000163864ENST00000512391D6RGH7
ENSG00000163864ENST00000514703D6RGG8
ENSG00000163864ENST00000642987A0A2R8YGL3
ENSG00000163864ENST00000643695A0A2R8YFG2
ENSG00000163864ENST00000645290A0A2R8Y594
ENSG00000163864ENST00000645507A0A2R8YE08
ENSG00000163864ENST00000646611A0A2R8YFG2
ENSG00000163864ENST00000647257A0A2R8YEU0

Expression (GTEx)

0
5
10
15
20
25

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
174027472007Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis.34
203887042010Isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases.23
204575312010Unique expression pattern of human nicotinamide mononucleotide adenylyltransferase isozymes in red blood cells.8
241559102013Insight into molecular and functional properties of NMNAT3 reveals new hints of NAD homeostasis within human mitochondria.0

Citation

Dessen P

NMNAT3 (nicotinamide nucleotide adenylyltransferase 3)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57632/nmnat3