| Protein Name | nicotinamide nucleotide adenylyltransferase 1 |
|---|---|
| Organism | Mus musculus |
| Gene ID | 66454 |
| Gene Symbol | Nmnat1 |
| UniProt | Q9EPA7 (NMNA1_MOUSE), Q3V449 (Q3V449_MOUSE) |
| Relationships |
Total Number of functionally related compound(s) :
20
Total Number of Articles : 48 |
Description |
nicotinamide nucleotide adenylyltransferase 1 |
| Gene Summary |
Enables nicotinamide-nucleotide adenylyltransferase activity; nicotinate-nucleotide adenylyltransferase activity; and protein ADP-ribosyltransferase-substrate adaptor activity. Involved in NAD+ biosynthetic process via the salvage pathway and nicotinamide metabolic process. Acts upstream of or within several processes, including negative regulation of adipose tissue development; positive regulation of adipose tissue development; and regulation of DNA-templated transcription. Is active in chromatin and nucleus. Is expressed in retina; retina ganglion cell layer; retina inner nuclear layer; and retina layer. Used to study Leber congenital amaurosis 9 and retinal degeneration. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 9 and spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis. Orthologous to human NMNAT1 (nicotinamide nucleotide adenylyltransferase 1). [provided by Alliance of Genome Resources, Jul 2025] |
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