Aliases for NMNAT1 Gene
External Ids for NMNAT1 Gene
Previous HGNC Symbols for NMNAT1 Gene
Previous GeneCards Identifiers for NMNAT1 Gene
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]
GeneCards Summary for NMNAT1 Gene
NMNAT1 (Nicotinamide Nucleotide Adenylyltransferase 1) is a Protein Coding gene. Diseases associated with NMNAT1 include leber congenital amaurosis 9 and nmnat1-related leber congenital amaurosis. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include nicotinate-nucleotide adenylyltransferase activity and nicotinamide-nucleotide adenylyltransferase activity. An important paralog of this gene is NMNAT2.
UniProtKB/Swiss-Prot for NMNAT1 Gene
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.