GNPNAT1 Gene
Glucosamine-6-Phosphate N-Acetyltransferase 1
Gene Information Card
| Symbol | GNPNAT1 |
|---|---|
| Full Name | Glucosamine-6-Phosphate N-Acetyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q22.1 |
| NCBI Gene ID | 64841 ncbi.nlm.nih.gov/gene/64841 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q96EK6 |
| OMIM ID | 616972 |
| HGNC ID | 21538 |
| Aliases | GNPAT, EMPA70, GNPNAT1 |
Description
GNPNAT1 encodes glucosamine-6-phosphate N-acetyltransferase 1, an enzyme that catalyzes the acetylation of glucosamine-6-phosphate to N-acetylglucosamine-6-phosphate using acetyl-CoA. This reaction is a key step in the hexosamine biosynthesis pathway, which produces UDP-N-acetylglucosamine, a substrate for glycosylation and other cellular processes. The gene is located on chromosome 14q22.1 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 7.1 | Medium |
| Pancreas | 6.0 | Low |
| Testis | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK 293 | 9.8 | Embryonic kidney cells |
| A549 | 6.5 | Lung carcinoma cell line |
| K562 | 4.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Not reported in COSMIC | Likely loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | Missense | Not reported in COSMIC | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • acetyltransferase activity | • N-acetylglucosamine-6-phosphate biosynthetic process |
| • cytoplasm |
Pathways
• Hexosamine biosynthesis pathway
• Metabolism of carbohydrates
Protein Summary
Glucosamine-6-phosphate N-acetyltransferase 1 is a 70 kDa protein that belongs to the acetyltransferase family. It is localized in the cytoplasm and catalyzes the conversion of glucosamine-6-phosphate to N-acetylglucosamine-6-phosphate, a critical step in the hexosamine pathway. The enzyme is essential for the production of UDP-N-acetylglucosamine, which is used in glycosylation reactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNPNAT1 Knockout HEK293 Cell Line | EDJ-KQ13618 | Human | 64841 | Details Get a Quote |
| GNPNAT1 Knockout A-549 Cell Line | EDJ-KQ43286 | Human | 64841 | Details Get a Quote |
| GNPNAT1 Knockout HCT 116 Cell Line | EDJ-KQ43287 | Human | 64841 | Details Get a Quote |
| GNPNAT1 Knockout HeLa Cell Line | EDJ-KQ43288 | Human | 64841 | Details Get a Quote |
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