| Gene Symbol |
NMNAT1
|
| Entrez Gene |
64802
|
| Alt Symbol |
LCA9, NMNAT, PNAT1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
nicotinamide nucleotide adenylyltransferase 1
|
| Other Description |
NMN adenylyltransferase 1|NMN/NaMN adenylyltransferase 1|NaMN adenylyltransferase 1|nicotinamide mononucleotide adenylyltransferase 1|nicotinamide-nucleotide adenylyltransferase 1|nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1|nicotinate-nucleotide adenylyltransferase 1|pyridine nucleotide adenylyltransferase 1
|
| Swissprots |
Q9H247 Q9HAN9 Q9H6B6 Q8TAE9 B1AN63
|
| Accessions |
AAL76935 CAK32267 CAM12697 CDH92521 EAW71635 EAW71636 Q9HAN9 AF088049 AF312734 AAG33629 AF314163 AAG33632 AF459819 AAL76934 AI247931 AK026065 BAB15345 AK222920 BAD96640 AK315640 BAG38007 BC014943 AAH14943 BC032483 BG751629 BP309588 BP339298 BU948893 HG491681 JF432503 ADZ15720 XM_011541971 XP_011540273 NM_001297778 NP_001284707 NM_001297779 NP_001284708 NM_022787 NP_073624
|
| Function |
Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, prefers NAD(+) and NaAD as substrates and degrades NADH, nicotinic acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+). Protects against axonal degeneration following mechanical or toxic insults. {ECO:0000269|PubMed:17402747}.
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:11248244, ECO:0000269|PubMed:12574164, ECO:0000269|PubMed:16118205, ECO:0000269|PubMed:22842230}.
|
| Tissue Specificity |
Widely expressed with highest levels in skeletal muscle, heart and kidney. Also expressed in the liver pancreas and placenta. Widely expressed throughout the brain. {ECO:0000269|PubMed:11027696, ECO:0000269|PubMed:11891043}.
|
| Top Pathways |
Nicotinate and nicotinamide metabolism
|
