NMRK1: Nicotinamide Riboside Kinase 1 – Key Enzyme in NAD+ Salvage and Metabolism
Comprehensive gene card for NMRK1, including genomic context, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | NMRK1 |
|---|---|
| Full Name | nicotinamide riboside kinase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q21.31 |
| NCBI Gene ID | 54981 ncbi.nlm.nih.gov/gene/54981 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q9NWW6 |
| OMIM ID | 615787 |
| HGNC ID | 26157 |
| Aliases | NRK1, NRK, dJ283E3.1 |
Description
NMRK1 (nicotinamide riboside kinase 1) encodes an enzyme that phosphorylates nicotinamide riboside (NR) to form nicotinamide mononucleotide (NMN), a key step in the NAD+ salvage pathway. This gene is involved in cellular energy metabolism, mitochondrial function, and stress responses. Expression is observed in multiple tissues, with highest levels in kidney and liver.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency | Impaired NAD+ synthesis leads to reduced mitochondrial respiration | OMIM #615787; ClinVar |
| Cancer (various types) | Altered NMRK1 expression may affect NAD+ levels and tumor metabolism | COSMIC; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Liver | 10.2 | High |
| Heart | 6.8 | Medium |
| Brain | 4.1 | Low |
| Lung | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.3 | Embryonic kidney cells |
| HepG2 | 7.1 | Liver cancer cell line |
| SH-SY5Y | 5.4 | Neuroblastoma cells |
| A549 | 4.2 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon; likely loss of function |
| c.374C>T (p.Thr125Met) | missense | 0.01% | Reduced kinase activity in vitro |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish or severely reduce kinase activity (e.g., start codon loss) are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for NMRK1.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • kinase activity (GO:0016301) |
| • phosphotransferase activity (GO:0016773) | • NAD+ salvage (GO:0034354) |
| • identical protein binding (GO:0042802) | • metal ion binding (GO:0046872) |
Pathways
• Nicotinamide riboside metabolism (Reactome: R-HSA-197264)
• NAD+ salvage pathway (KEGG: map00760)
• Nicotinate and nicotinamide metabolism (KEGG: map00760)
Protein Summary
NMRK1 encodes a 228-amino acid protein (UniProt Q9NWW6) that functions as a nicotinamide riboside kinase. It catalyzes the phosphorylation of NR to NMN using ATP. The protein is localized in the cytoplasm and mitochondria, and is essential for NAD+ biosynthesis from dietary NR. NMRK1 is implicated in mitochondrial health and cellular redox balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NMRK1 Knockout HEK293 Cell Line | EDJ-KQ14449 | Human | 54981 | Details Get a Quote |
| NMRK1 Knockout A-549 Cell Line | EDJ-KQ44670 | Human | 54981 | Details Get a Quote |
| NMRK1 Knockout HCT 116 Cell Line | EDJ-KQ44671 | Human | 54981 | Details Get a Quote |
| NMRK1 Knockout HeLa Cell Line | EDJ-KQ44672 | Human | 54981 | Details Get a Quote |
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