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Standards Ontologies Notations
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1

Summary
UniProt ID
Q06210
Gene Symbol
  • GFPT1
  • GFAT
  • GFPT
Organism
Homo sapiens (human)
GlyGen
Q06210
PubChem
Q06210
The Human Metabolome Database
HMDBP00216
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Aminotransferase
  • Biological rhythms
  • Congenital myasthenic syndrome
  • Disease variant
  • Glutamine amidotransferase
  • Phosphoprotein
  • Reference proteome
  • Repeat
Gene Ontology (GO)
Displaying all 2 entries
GO Term
cytosol
extracellular exosome
Annotation information from UniProt.
Sequence
MCGIFAYLNYHVPRTRREILETLIKGLQRLEYRGYDSAGVGFDGGNDKDWEANACKIQLIKKKGKVKALDEEVHKQQDMDLDIEFDVHLGIAHTRWATHGEPSPVNSHPQRSDKNNEFIVIHNGIITNYKDLKKFLESKGYDFESETDTETIAKLVKYMYDNRESQDTSFTTLVERVIQQLEGAFALVFKSVHFPGQAVGTRRGSPLLIGVRSEHKLSTDHIPILYRTARTQIGSKFTRWGSQGERGKDKKGSCNLSRVDSTTCLFPVEEKAVEYYFASDASAVIEHTNRVIFLEDDDVAAVVDGRLSIHRIKRTAGDHPGRAVQTLQMELQQIMKGNFSSFMQKEIFEQPESVVNTMRGRVNFDDYTVNLGGLKDHIKEIQRCRRLILIACGTSYHAGVATRQVLEELTELPVMVELASDFLDRNTPVFRDDVCFFLSQSGETADTLMGLRYCKERGALTVGITNTVGSSISRETDCGVHINAGPEIGVASTKAYTSQFVSLVMFALMMCDDRISMQERRKEIMLGLKRLPDLIKEVLSMDDEIQKLATELYHQKSVLIMGRGYHYATCLEGALKIKEITYMHSEGILAGELKHGPLALVDKLMPVIMIIMRDHTYAKCQNALQQVVARQGRPVVICDKEDTETIKNTKRTIKVPHSVDCLQGILSVIPLQLLAFHLAVLRGYDVDFPRNLAKSVTVE
  • N : N-glycosylation Site
  • ___ : Potential Sequon
Glycosylation Sites
Displaying 1 entry
Position Description PubMed ID GlyTouCan ID Source
338
Feature
  • ProtVista GlyGen : Glycosylation Site from GlyGen
  • ProtVista UniProt : Glycosylation Site from UniProt
Pathway
Displaying all 3 entries
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
Displaying 1 entry
DO ID Disease Name Source
DOID:0110660 congenital myasthenic syndrome 12
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024