Nmnat1 - nicotinamide nucleotide adenylyltransferase 1 Gene
Also Known as nmnat; D4Cole1e; 2610529L11Rik; 5730441G13Rik
Species: Mus musculus
Summary
Enables nicotinamide-nucleotide adenylyltransferase activity and nicotinate-nucleotide adenylyltransferase activity. Involved in negative regulation of neuron death. Acts upstream of or within NAD biosynthetic process and response to wounding. Located in nucleus. 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, Apr 2022]
Nmnat1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001356357.1 | NP_001343286.1 | nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 |
| NM_133435.2 | NP_597679.1 | nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables nicotinamide-nucleotide adenylyltransferase activity |
IDA
IDA: Inferred from direct assay
|
16914673 | MGI |
| enables nicotinate-nucleotide adenylyltransferase activity |
IDA
IDA: Inferred from direct assay
|
15381699 | MGI |
| enables protein ADP-ribosyltransferase-substrate adaptor activity |
IDA
IDA: Inferred from direct assay
|
32822587 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within NAD biosynthetic process |
IDA
IDA: Inferred from direct assay
|
15381699 | MGI |
| involved in NAD biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
27735788 | MGI |
| involved in negative regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
32822587 | MGI |
| acts upstream of or within response to wounding |
IDA
IDA: Inferred from direct assay
|
16914673 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in chromatin |
IDA
IDA: Inferred from direct assay
|
32822587 | MGI |
| located in chromatin |
IDA
IDA: Inferred from direct assay
|
32822587 | MGI |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
15381699 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 |
|
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