GFPT1 Gene (Glutamine-Fructose-6-Phosphate Transaminase 1)
Key enzyme in hexosamine biosynthesis pathway; associated with congenital myasthenic syndromes and metabolic disorders.
Gene Information Card
| Symbol | GFPT1 |
|---|---|
| Full Name | Glutamine-Fructose-6-Phosphate Transaminase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 2673 ncbi.nlm.nih.gov/gene/2673 |
| Ensembl ID | ENSG00000115904 |
| UniProt ID | Q06210 |
| OMIM ID | 138292 |
| HGNC ID | 4241 |
| Aliases | GFAT1, GFAT, GFPT, GFAT1L |
Description
GFPT1 encodes glutamine-fructose-6-phosphate transaminase 1, the rate-limiting enzyme of the hexosamine biosynthesis pathway. It catalyzes the conversion of fructose-6-phosphate and glutamine to glucosamine-6-phosphate, a precursor for N- and O-linked glycosylation. Mutations in GFPT1 are associated with congenital myasthenic syndrome (CMS) and may influence insulin resistance and diabetes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital Myasthenic Syndrome (CMS) | Loss-of-function mutations impair glycosylation of acetylcholine receptor subunits, reducing synaptic efficiency. | ClinVar, OMIM |
| Diabetes Mellitus (Type 2) | Overexpression or increased activity of GFPT1 leads to elevated hexosamine flux, contributing to insulin resistance. | NCBI, PubMed |
| Obesity | Altered GFPT1 expression in adipose tissue affects hexosamine pathway and metabolic signaling. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.5 | Medium |
| Heart | 10.3 | Medium |
| Liver | 8.7 | Medium |
| Pancreas | 6.2 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HepG2 | 11.8 | Moderate expression |
| A549 | 9.4 | Moderate expression |
| K562 | 4.3 | Low expression |
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 function; associated with CMS |
| c.643C>T (p.Arg215Trp) | Missense | Rare | Impaired enzyme activity; CMS |
| c.1024G>A (p.Gly342Arg) | Missense | Rare | Reduced catalytic efficiency; CMS |
| c.1498C>T (p.Arg500Cys) | Missense | Rare | Dominant negative effect in some cases |
Mutation functional classification
Loss of Function (LOF)
Most CMS-associated mutations reduce or abolish GFPT1 enzymatic activity, impairing hexosamine biosynthesis and glycosylation.
Gain of Function (GOF)
Not well documented; overexpression in metabolic tissues may contribute to insulin resistance.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg500Cys) may exert dominant-negative effects by interfering with dimerization.
View complete mutation data：
Gene Ontology (GO)
| • glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004363) | • carbohydrate metabolic process (GO:0005975) |
| • N-acetylglucosamine metabolic process (GO:0006044) | • protein glycosylation (GO:0006486) |
| • cytoplasm (GO:0005737) |
Pathways
• Hexosamine Biosynthesis Pathway (Reactome: R-HSA-446203)
• Metabolism of carbohydrates (Reactome: R-HSA-71387)
• O-linked glycosylation (Reactome: R-HSA-5173105)
Protein Summary
GFPT1 is a 699-amino acid protein that forms homodimers and catalyzes the first and rate-limiting step of the hexosamine biosynthesis pathway. It is allosterically inhibited by UDP-N-acetylglucosamine. The protein is ubiquitously expressed, with highest levels in skeletal muscle, heart, and liver. Alternative splicing generates isoforms with varying tissue distribution.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GFPT1 Knockout HEK293 Cell Line | EDJ-KQ4700 | Human | 2673 | Details Get a Quote |
| GFPT1 Knockout A-549 Cell Line | EDJ-KQ26171 | Human | 2673 | Details Get a Quote |
| GFPT1 Knockout HCT 116 Cell Line | EDJ-KQ27412 | Human | 2673 | Details Get a Quote |
| GFPT1 Knockout HeLa Cell Line | EDJ-KQ27413 | Human | 2673 | Details Get a Quote |
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