NMNAT1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NMNAT1 |
| Official Name | nicotinamide nucleotide adenylyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:17877] |
| Ensembl ID | ENSG00000173614 |
| Bio databases IDs | |
| Aliases | nicotinamide nucleotide adenylyltransferase 1, nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 |
| Synonyms | 2610529L11Rik, 5730441G13Rik, D4Cole1e, LCA9, nicotinamide nucleotide adenylyltransferase 1, NMNAT, PNAT1, SHILCA |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NMNAT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- nicotinate-nucleotide adenylyltransferase
- Cytidylyltransferase-like
- nicotinate (nicotinamide) nucleotide adenylyltransferase
- cytidyltransferase-like domain
- nuclear localization sequence
- protein binding activity, bridging
- enzyme
- protein binding
- nicotinamide-nucleotide adenylyltransferase
- identical protein binding
- nucleotidyl transferase superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neurodegeneration
- retinal dystrophy
- leber congenital amaurosis type 9
- Leber congenital amaurosis type 1
- hereditary disorder
- spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis
- cone-rod dystrophy
- cone dystrophy
- autosomal recessive retinal dystrophy
- Wallerian degeneration
role in cell
- growth
- expression in
- cell death
- apoptosis
- degeneration
- production in
- transcription in
- poly(ADP-ribosyl)ation in
- function in
- degeneration in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nuclear bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NMNAT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription, DNA-dependent
- nucleotide biosynthetic process
- NAD biosynthetic process
- response to wounding
- positive regulation of MAPK cascade
- negative regulation of neuron apoptotic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- nicotinate-nucleotide adenylyltransferase activity
- identical protein binding
- protein binding
- nicotinamide-nucleotide adenylyltransferase activity