NMNAT3 Gene: Nicotinamide Nucleotide Adenylyltransferase 3
A key enzyme in NAD+ biosynthesis, implicated in cellular metabolism and disease.
Gene Information Card
| Symbol | NMNAT3 |
|---|---|
| Full Name | Nicotinamide Nucleotide Adenylyltransferase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | Chromosome 9 (9q34.11) |
| NCBI Gene ID | 349565 ncbi.nlm.nih.gov/gene/349565 |
| Ensembl ID | ENSG00000164897 |
| UniProt ID | Q96T66 |
| OMIM ID | 608701 |
| HGNC ID | 17989 |
| Aliases | PNAT-3, FLJ12770, MGC2615 |
Description
NMNAT3 encodes nicotinamide nucleotide adenylyltransferase 3, an enzyme that catalyzes the final step in NAD+ biosynthesis from nicotinamide mononucleotide (NMN) and ATP. It is localized to mitochondria and plays a role in cellular energy metabolism, stress response, and protection against axonal degeneration. NMNAT3 is expressed in various tissues, with high levels in heart, skeletal muscle, and liver.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Cancer (various) | Altered NAD+ metabolism may influence tumor cell survival and proliferation; NMNAT3 expression changes have been observed in some cancers. | COSMIC: mutations and expression changes reported in certain cancer types. |
| Neurodegenerative disorders (potential) | NAD+ depletion is linked to neurodegeneration; NMNAT3 may have protective roles, but direct disease association is not well-established. | Inferred from functional studies; no strong clinical evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Heart | High | High |
| Skeletal Muscle | High | High |
| Liver | Medium | Medium |
| Kidney | Medium | Medium |
| Brain | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| HepG2 (liver) | Medium | Hepatocellular carcinoma cell line |
| A549 (lung) | Low | Lung carcinoma cell line |
| MCF7 (breast) | Low | Breast adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| c.123C>T (p.Ala41Val) | Missense | Rare (population databases) | Unknown; may affect protein function. |
| c.456G>A (p.Thr152Thr) | Synonymous | Low | No amino acid change; likely benign. |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in NMNAT3.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not described for NMNAT3.
View complete mutation data：
Gene Ontology (GO)
| • nicotinamide-nucleotide adenylyltransferase activity (GO:0000309) | • ATP binding (GO:0005524) |
| • mitochondrion (GO:0005739) | • NAD+ biosynthetic process (GO:0019679) |
| • protein homodimerization activity (GO:0042803) |
Pathways
• Nicotinate and nicotinamide metabolism (KEGG: hsa00760)
• NAD+ metabolism (Reactome: R-HSA-196807)
Protein Summary
The NMNAT3 protein is a 252-amino acid enzyme localized to mitochondria. It catalyzes the conversion of nicotinamide mononucleotide (NMN) and ATP to NAD+, a critical coenzyme in redox reactions. NMNAT3 is involved in maintaining mitochondrial NAD+ pools and has been implicated in protection against axonal degeneration. Its expression is highest in metabolically active tissues such as heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NMNAT3 Knockout HEK293 Cell Line | EDJ-KQ14446 | Human | 349565 | Details Get a Quote |
| NMNAT3 Knockout A-549 Cell Line | EDJ-KQ44666 | Human | 349565 | Details Get a Quote |
| NMNAT3 Knockout HCT 116 Cell Line | EDJ-KQ44667 | Human | 349565 | Details Get a Quote |
| NMNAT3 Knockout HeLa Cell Line | EDJ-KQ59845 | Human | 349565 | Details Get a Quote |
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