NMNAT3 Gene Summary [Human]
This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | NMNAT3 |
| Official Name | nicotinamide nucleotide adenylyltransferase 3 [Source:HGNC Symbol;Acc:HGNC:20989] |
| Ensembl ID | ENSG00000163864 |
| Bio databases IDs | |
| Aliases | nicotinamide nucleotide adenylyltransferase 3 |
| Synonyms | 4933408N02RIK, FKSG76, nicotinamide nucleotide adenylyltransferase 3, PNAT-3 |
| 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 NMNAT3 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
- enzyme
- nicotinamide-nucleotide adenylyltransferase
- 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
- Alzheimer disease
- hemolytic anemia
- Wallerian degeneration
- preeclampsia
- splenomegaly
regulates
- adenosine triphosphate
- NAD+
- nicotinic acid adenine dinucleotide
- nicotinamide guanine dinucleotide
role in cell
- cell death
- transmembrane potential
- production in
- acidification in
- fragmentation in
- tubulation
- fragmentation
- tubulation in
- glycolysis in
- acidification
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- extranuclear space
- Nucleus
- Mitochondria
- cytosol
- mitochondrial matrix
- mitochondrial inner membrane
- perikaryon
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NMNAT3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nucleotide biosynthetic process
- response to wounding
- NAD biosynthetic process
- response to tumor necrosis factor
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- neuronal cell body
- axon
Molecular Function
What the gene product does at the molecular level
- ATP binding
- nicotinate-nucleotide adenylyltransferase activity
- nicotinamide-nucleotide adenylyltransferase activity