NAGK: N-Acetylglucosamine Kinase
A key enzyme in the hexosamine biosynthetic pathway, involved in cellular signaling and metabolic regulation.
Gene Information Card
| Symbol | NAGK |
|---|---|
| Full Name | N-Acetylglucosamine Kinase |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 55577 ncbi.nlm.nih.gov/gene/55577 |
| Ensembl ID | ENSG00000115128 |
| UniProt ID | Q9UJ70 |
| OMIM ID | 604622 |
| HGNC ID | 17169 |
| Aliases | GLAK, HSA242910, MGC138211, MGC138213 |
Description
NAGK encodes N-acetylglucosamine kinase, an enzyme that catalyzes the phosphorylation of N-acetylglucosamine (GlcNAc) to N-acetylglucosamine-6-phosphate. This is a key step in the hexosamine biosynthetic pathway, which provides substrates for glycosylation and O-GlcNAc modification of proteins. The enzyme is involved in cellular signaling, energy metabolism, and the regulation of protein function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| NAGK deficiency (OMIM #604622) | Loss-of-function mutations impair GlcNAc phosphorylation, leading to accumulation of GlcNAc and metabolic disturbances. | OMIM, ClinVar |
| Congenital disorder of glycosylation (CDG) type II | Defects in NAGK disrupt hexosamine pathway, affecting N- and O-glycosylation. | OMIM, ClinVar |
| Cancer (various) | Altered NAGK expression may influence tumor cell metabolism and O-GlcNAc signaling. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 8.1 | Medium |
| Heart | 7.3 | Low |
| Lung | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocellular carcinoma cell line |
| HEK293 | 11.5 | Embryonic kidney cells |
| SH-SY5Y | 9.2 | Neuroblastoma cell line |
| A549 | 7.8 | Lung carcinoma cell line |
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 enzyme activity |
| c.682G>A (p.Glu228Lys) | Missense | <0.01% | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Thr125Met, p.Glu228Lys) reduce or abolish kinase activity, leading to metabolic defects.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not reported; NAGK functions as a monomer, dominant-negative effects are unlikely.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • N-acetylglucosamine metabolic process (GO:0006044) |
| • UDP-N-acetylglucosamine biosynthetic process (GO:0006048) | • kinase activity (GO:0016301) |
| • phosphotransferase activity (GO:0016773) | • cytoplasm (GO:0005737) |
Pathways
• Hexosamine biosynthetic pathway (Reactome: R-HSA-446203)
• O-GlcNAc modification of proteins (Reactome: R-HSA-446219)
• Amino sugar and nucleotide sugar metabolism (KEGG: hsa00520)
Protein Summary
N-acetylglucosamine kinase (NAGK) is a 339-amino acid cytoplasmic enzyme that phosphorylates GlcNAc to GlcNAc-6-P using ATP. It is a key regulator of the hexosamine pathway, linking glucose metabolism to protein glycosylation. The enzyme is ubiquitously expressed, with highest levels in liver and kidney. Structural studies show a two-domain architecture with an N-terminal ATP-binding domain and a C-terminal substrate-binding domain. NAGK activity is essential for maintaining cellular UDP-GlcNAc pools, which are critical for O-GlcNAc signaling and N-glycan biosynthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NAGK Knockout HEK293 Cell Line | EDJ-KQ14365 | Human | 55577 | Details Get a Quote |
| NAGK Knockout HCT 116 Cell Line | EDJ-KQ44501 | Human | 55577 | Details Get a Quote |
| NAGK Knockout HeLa Cell Line | EDJ-KQ44502 | Human | 55577 | Details Get a Quote |
| NAGK Knockout A-549 Cell Line | EDJ-KQ43263 | Human | 55577 | Details Get a Quote |
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