GFPT1 Gene Summary [Human]
This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]
Details
| Type | Protein Coding |
| Official Symbol | GFPT1 |
| Official Name | glutamine--fructose-6-phosphate transaminase 1 [Source:HGNC Symbol;Acc:HGNC:4241] |
| Ensembl ID | ENSG00000198380 |
| Bio databases IDs | |
| Aliases | glutamine--fructose-6-phosphate transaminase 1 |
| Synonyms | 2810423A18RIK, CMS12, CMSTA1, GFA, GFAT, GFAT 1, GFAT1m, GFPT, GFPT1L, glutamine--fructose-6-phosphate transaminase 1, MSLG |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GFPT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SIS
- glucosamine--fructose-6-phosphate aminotransferase (isomerizing)
- SIS domain
- enzyme
- glutamine-fructose-6-phosphate transaminase (isomerizing)
- protein binding
- carbohydrate binding
- identical protein binding
- Gn_AT_II
- amino acid binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- backache
- congenital myasthenic syndrome with tubular aggregates 1
- congenital myasthenic syndrome associated with acetylcholine receptor deficiency type 4C
- prostate cancer
- congenital myasthenic syndrome
- non-insulin-dependent diabetes mellitus
- spinal stenosis
role in cell
- expression in
- apoptosis
- production in
- binding in
- development
- quantity
- osteogenic differentiation
- loss in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- cytosol
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GFPT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- circadian regulation of gene expression
- glutamine metabolic process
- energy reserve metabolic process
- fructose 6-phosphate metabolic process
- UDP-N-acetylglucosamine metabolic process
- protein N-linked glycosylation
- UDP-N-acetylglucosamine biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytosol
Molecular Function
What the gene product does at the molecular level
- glutamine-fructose-6-phosphate transaminase (isomerizing) activity