NADSYN1
NAD Synthetase 1
Gene Information Card
| Symbol | NADSYN1 |
|---|---|
| Full Name | NAD Synthetase 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 55191 ncbi.nlm.nih.gov/gene/55191 |
| Ensembl ID | ENSG00000172890 |
| UniProt ID | Q6IA69 |
| OMIM ID | 608285 |
| HGNC ID | 29832 |
| Aliases | NADS, NAD+ synthetase, glutamine-dependent NAD synthetase |
Description
NADSYN1 encodes NAD synthetase 1, the final enzyme in the NAD+ biosynthesis pathway, catalyzing the conversion of deamido-NAD+ to NAD+ using glutamine or ammonia as a nitrogen donor. NAD+ is essential for cellular redox reactions, energy metabolism, and as a substrate for poly(ADP-ribose) polymerases and sirtuins. Mutations in NADSYN1 cause congenital NAD deficiency disorder (CNDD), characterized by multiple congenital anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital NAD deficiency disorder (CNDD) | Loss-of-function mutations impair NAD+ synthesis, leading to developmental defects | ClinVar, OMIM |
| Multiple congenital anomalies (heart, vertebral, renal) | Reduced NAD+ levels disrupt cellular energy and signaling | OMIM #608285 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 6.5 | Low |
| Brain | 4.2 | Low |
| Testis | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocyte line |
| HEK293 | 8.2 | Embryonic kidney line |
| K562 | 5.0 | Leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169C>T (p.Arg57Trp) | Missense | Rare | Loss of enzymatic activity |
| c.632G>A (p.Arg211Gln) | Missense | Rare | Reduced NAD+ production |
| c.1156C>T (p.Arg386*) | Nonsense | Very rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations reduce or abolish NAD synthetase activity, leading to NAD+ deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • NAD+ synthase (glutamine-hydrolyzing) activity | • ATP binding |
| • NAD biosynthetic process | • response to oxidative stress |
| • mitochondrion |
Pathways
• NAD+ metabolism
• Nicotinate and nicotinamide metabolism
Protein Summary
NADSYN1 is a 706-amino acid protein localized to the cytoplasm and mitochondria. It contains a glutaminase domain that hydrolyzes glutamine to provide ammonia for the final step of NAD+ synthesis. The enzyme is critical for maintaining cellular NAD+ pools, especially in tissues with high energy demand.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NADSYN1 Knockout HEK293 Cell Line | EDJ-KQ14364 | Human | 55191 | Details Get a Quote |
| NADSYN1 Knockout A-549 Cell Line | EDJ-KQ44497 | Human | 55191 | Details Get a Quote |
| NADSYN1 Knockout HCT 116 Cell Line | EDJ-KQ44498 | Human | 55191 | Details Get a Quote |
| NADSYN1 Knockout HeLa Cell Line | EDJ-KQ44499 | Human | 55191 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
