GFPT1
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]
Full Name
Glutamine--Fructose-6-Phosphate Transaminase 1
Function
Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1.
Biological Process
Circadian regulation of gene expression Source: UniProtKB
Energy reserve metabolic process Source: ProtInc
Fructose 6-phosphate metabolic process Source: GO_Central
Glutamine metabolic process Source: UniProtKB-KW
Protein N-linked glycosylation Source: GO_Central
UDP-N-acetylglucosamine biosynthetic process Source: Reactome
UDP-N-acetylglucosamine metabolic process Source: GO_Central
Energy reserve metabolic process Source: ProtInc
Fructose 6-phosphate metabolic process Source: GO_Central
Glutamine metabolic process Source: UniProtKB-KW
Protein N-linked glycosylation Source: GO_Central
UDP-N-acetylglucosamine biosynthetic process Source: Reactome
UDP-N-acetylglucosamine metabolic process Source: GO_Central
Cellular Location
Cytosol; Extracellular exosome
Involvement in disease
Myasthenic syndrome, congenital, 12 (CMS12):
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS12 is characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors.
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS12 is characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors.
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Anti-GFPT1 antibodies
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Target: GFPT1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBLG1-1040
Application*: IP, WB, IH
Target: GFPT1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Rat
Clone: 11C1035D12F4
Application*: IP, WB
Target: GFPT1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human, Rat, Monkey
Clone: 1F1A4
Application*: WB
Target: GFPT1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat, Dog, Pig
Clone: G3198
Application*: WB, IP, IF, E
Target: GFPT1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Rat, Monkey
Clone: G0410
Application*: WB, E, IF, F
Target: GFPT1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Monkey, Rat
Clone: CBT4271
Application*: WB, IC, F
Target: GFPT1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Monkey, Rat
Clone: CBT2615
Application*: WB, IC, F
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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