| Tbio | Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 |
Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP (PubMed:17402747). Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency (PubMed:17402747). Can use triazofurin monophosphate (TrMP) as substrate (PubMed:17402747). Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+) (PubMed:17402747). 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 (PubMed:17402747). Involved in the synthesis of ATP in the nucleus, together with PARP1, PARG and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+) (PubMed:17402747). Protects against axonal degeneration following mechanical or toxic insults (By similarity).
This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]
This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Leber congenital amaurosis | 69 | 5.181 | 2.6 |
| Amaurosis congenita of Leber, type 9 | 1 | 0.0 | 0.0 |
| Brain Injuries, Traumatic | 2 | 0.0 | 0.0 |
| Hereditary macular coloboma | 5 | 0.0 | 0.0 |
| Macular degeneration | 65 | 0.0 | 0.0 |
| Neurobehavioral Manifestations | 9 | 0.0 | 0.0 |
| Optic Atrophy | 242 | 0.0 | 0.0 |
| Retinal Degeneration | 106 | 0.0 | 0.0 |
| Wallerian Degeneration | 4 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Age related macular degeneration | 72 |
| LEBER CONGENITAL AMAUROSIS 9 (disorder) | 1 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7950 | 6.9e-05 |
| subependymal giant cell astrocytoma | 2287 | 3.6e-02 |
| Disease | Target Count |
|---|---|
| Leber Congenital Amaurosis 9 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| osteosarcoma | 1.860 | 6.9e-05 |
| subependymal giant cell astrocytoma | 1.600 | 3.6e-02 |
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMA 1 - 70 ELATKNSKWVEVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKS 71 - 140 LEPKTKAVPKVKLLCGADLLESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNI 141 - 210 HVVNEWIANDISSTKIRRALRRGQSIRYLVPDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT 211 - 279 //
