InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NMNAT1

Summary

InnateDB Protein

IDBP-88780.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NMNAT1

Protein Name

nicotinamide nucleotide adenylyltransferase 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000366410

InnateDB Gene

IDBG-88778 (NMNAT1)

Protein Structure

UniProt Annotation

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:0000269PubMed:17402747}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:11248244, ECO:0000269PubMed:12574164, ECO:0000269PubMed:16118205, ECO:0000269PubMed:22842230}.

Disease Associations

Leber congenital amaurosis 9 (LCA9) [MIM:608553]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:22842227, ECO:0000269PubMed:22842229, ECO:0000269PubMed:22842230, ECO:0000269PubMed:22842231}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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:0000269PubMed:11027696, ECO:0000269PubMed:11891043}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000309	nicotinamide-nucleotide adenylyltransferase activity
GO:0003824	catalytic activity
GO:0004515	nicotinate-nucleotide adenylyltransferase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016779	nucleotidyltransferase activity

Biological Process

GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0009058	biosynthetic process
GO:0009435	NAD biosynthetic process
GO:0019674	NAD metabolic process
GO:0044281	small molecule metabolic process