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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
Summary
- UniProt ID
- Q06210
- Gene Symbol
-
- GFPT1
- GFAT
- GFPT
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q06210
- PubChem
- Q06210
- The Human Metabolome Database
- HMDBP00216
- The O-GlcNAc Database
- Q06210
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Aminotransferase
- Biological rhythms
- Congenital myasthenic syndrome
- Disease variant
- Glutamine amidotransferase
- Phosphoprotein
- Reference proteome
- Repeat
- Gene Ontology (GO)
| GO Term |
|---|
| extracellular exosome |
| cytosol |
| GO Term |
|---|
| carbohydrate derivative binding |
| glutamine-fructose-6-phosphate transaminase (isomerizing) activity |
Sequence
MCGIFAYLNYHVPRTRREILETLIKGLQRLEYRGYDSAGVGFDGGNDKDWEANACKIQLIKKKGKVKALDEEVHKQQDMDLDIEFDVHLGIAHTRWATHGEPSPVNSHPQRSDKNNEFIVIHNGIITNYKDLKKFLESKGYDFESETDTETIAKLVKYMYDNRESQDTSFTTLVERVIQQLEGAFALVFKSVHFPGQAVGTRRGSPLLIGVRSEHKLSTDHIPILYRTARTQIGSKFTRWGSQGERGKDKKGSCNLSRVDSTTCLFPVEEKAVEYYFASDASAVIEHTNRVIFLEDDDVAAVVDGRLSIHRIKRTAGDHPGRAVQTLQMELQQIMKGNFSSFMQKEIFEQPESVVNTMRGRVNFDDYTVNLGGLKDHIKEIQRCRRLILIACGTSYHAGVATRQVLEELTELPVMVELASDFLDRNTPVFRDDVCFFLSQSGETADTLMGLRYCKERGALTVGITNTVGSSISRETDCGVHINAGPEIGVASTKAYTSQFVSLVMFALMMCDDRISMQERRKEIMLGLKRLPDLIKEVLSMDDEIQKLATELYHQKSVLIMGRGYHYATCLEGALKIKEITYMHSEGILAGELKHGPLALVDKLMPVIMIIMRDHTYAKCQNALQQVVARQGRPVVICDKEDTETIKNTKRTIKVPHSVDCLQGILSVIPLQLLAFHLAVLRGYDVDFPRNLAKSVTVE
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 338 |
|
|||
|
|
G39446WN
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective GFPT1 causes CMSTA1 | Homo sapiens |
| Synthesis of UDP-N-acetyl-glucosamine | Homo sapiens |
| XBP1(S) activates chaperone genes | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050782 | Zollinger-Ellison syndrome | |
| DOID:0060249 | scoliosis | |
| DOID:0060260 | ptosis | |
| DOID:0060261 | congenital ptosis | |
| DOID:0060891 | Parkinson's disease 19A | |
| DOID:0060895 | Parkinson's disease 4 | |
| DOID:0060896 | Parkinson's disease 23 | |
| DOID:0080089 | tubular aggregate myopathy 1 | |
| DOID:0110660 | congenital myasthenic syndrome 12 | |
| DOID:0110679 | congenital myasthenic syndrome 4C |
