Recombinant Human Nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1)

Uniprot Id

Q9HAN9

Target Species

Human

Target Name

NMNAT1

Target Full Name

Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1

Target 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. Involved in the synthesis of ATP in the nucleus, together with PARP1, PARG and NUDT5. Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+). Protects against axonal degeneration following mechanical or toxic insults.

Target Involvement

Leber congenital amaurosis 9 (LCA9)

Target Subcellular Location

Nucleus.

Target Protein Families

Eukaryotic NMN adenylyltransferase family

Target 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.

Target Research Area

Epigenetics and Nuclear Signaling

Target Synonyms

EC 2.7.7.1; LCA9; Leber's congenital amaurosis 9; NaMN adenylyltransferase 1; nicotinamide nucleotide adenylyltransferase 1; Nicotinamide-nucleotide adenylyltransferase 1; Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1; nicotinate nucleotide adenylyltransferase 1; Nicotinate-nucleotide adenylyltransferase 1; NMN adenylyltransferase 1; NMN/NaMN adenylyltransferase 1; NMNA1_HUMAN; Nmnat 1; Nmnat1; OTTHUMP00000001731; OTTHUMP00000001732; OTTHUMP00000035892; PNAT 1; PNAT1; pyridine nucleotide adenylyltransferase 1

Target Background

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.