NMNAT3 (nicotinamide nucleotide adenylyltransferase 3)

2018-11-01  

Identity

HGNC
NMNAT3
LOCATION
3q23
LOCUSID
349565
ALIAS
FKSG76,PNAT-3,PNAT3
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
241559102013Insight into molecular and functional properties of NMNAT3 reveals new hints of NAD homeostasis within human mitochondria.34
241559102013Insight into molecular and functional properties of NMNAT3 reveals new hints of NAD homeostasis within human mitochondria.34
203887042010Isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases.37
204575312010Unique expression pattern of human nicotinamide mononucleotide adenylyltransferase isozymes in red blood cells.12
203887042010Isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases.37
204575312010Unique expression pattern of human nicotinamide mononucleotide adenylyltransferase isozymes in red blood cells.12
174027472007Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis.46
174027472007Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis.46
161182052005Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.259
161182052005Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.259

Citation

Dessen P

NMNAT3 (nicotinamide nucleotide adenylyltransferase 3)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57632/nmnat3-(nicotinamide-nucleotide-adenylyltransferase-3)