AlphaFold predicted structure
GFPT1 · Q06210
Mean pLDDT
92.9/ 100
Very high
699 residues
Confidence breakdown
- Very high(≥ 90)87%
- Confident(70–90)8%
- Low(50–70)1%
- Very low(< 50)4%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
GFPT1
Chr 2p13.3glutamine--fructose-6-phosphate transaminase 1
- Aliases:
- GFAT, GFA, GFAT1
- MANE:
- ENST00000357308.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalCongenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalArthrogryposis
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
Congenital myasthenic syndromes
0.82neurodegenerative disease
0.56congenital myasthenic syndrome
0.52congenital myasthenic syndromes with glycosylation defect
0.50spinal stenosis
0.45musculoskeletal system disorder
0.40congenital disorder of glycosylation type I
0.37lysosomal storage disease
0.37vertebral column disorder
0.34Abnormality of the musculature
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
Rate-limiting enzyme of the hexosamine biosynthetic pathway (HBP) that catalyzes the formation of glucosamine-6-phosphate from fructose-6-phosphate and glutamine, thereby controlling the flux of glucose into this pathway (PubMed:32019926, PubMed:35229715). Inhibited by UDP-N-acetylglucosamine (UDP-GlcNAc) through a feedback loop (PubMed:32019926, PubMed:35229715). Fine-tunes the metabolic fluctuations of UDP-GlcNAc and its impacts on hyaluronan synthesis during tissue remodeling (PubMed:26887390). Via control of the HPB, regulates the availability of precursors for N- and O-linked protein glycosylation and modulates peripheral clock oscillation (By similarity)
Diseases associated with GFPT1
Curated MONDO disease pages that list GFPT1 among their top associated genes.