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glutamine--fructose-6-phosphate transaminase 1

Summary

Gene Symbol

GFPT1

Aliases

GFA
GFAT
GFAT1

Organism

Homo sapiens (human)

External Links

NCBI Gene

2673

HGNC

4241

KEGG Gene ID

hsa:2673

PubChem

2673

Alliance of Genome Resources

HGNC:4241

Annotation

Keyword

3D-structure
Alternative splicing
Aminotransferase
Biological rhythms
Congenital myasthenic syndrome
Disease variant
Glutamine amidotransferase
Phosphoprotein
Reference proteome
Repeat

Proteins

Displaying 1 entry
UniProt	Protein Name
Q06210	D-fructose-6-phosphate amidotransferase 1 Glutamine:fructose-6-phosphate amidotransferase 1 Hexosephosphate aminotransferase 1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
protein N-linked glycosylation	IBA
circadian regulation of gene expression	ISS
glutamine metabolic process	IEA
energy reserve metabolic process		1460020
UDP-N-acetylglucosamine biosynthetic process	IEA IMP TAS	26887390

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-N-acetylglucosamine metabolic process

UDP-N-acetylglucosamine biosynthetic process

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamine metabolic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

biosynthetic process [inference]

cellular biosynthetic process [inference]

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

organic substance biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

amino sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

organic cyclic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamine metabolic process

generation of precursor metabolites and energy [inference]

energy derivation by oxidation of organic compounds [inference]

energy reserve metabolic process

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-N-acetylglucosamine metabolic process

UDP-N-acetylglucosamine biosynthetic process

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

phosphorus metabolic process [inference]

UDP-N-acetylglucosamine metabolic process

UDP-N-acetylglucosamine biosynthetic process

phosphate-containing compound metabolic process [inference]

fructose 6-phosphate metabolic process

organophosphate metabolic process [inference]

fructose 6-phosphate metabolic process

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-N-acetylglucosamine metabolic process

UDP-N-acetylglucosamine biosynthetic process

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

cellular biosynthetic process [inference]

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-N-acetylglucosamine metabolic process

UDP-N-acetylglucosamine biosynthetic process

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-N-acetylglucosamine metabolic process

UDP-N-acetylglucosamine biosynthetic process

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamine metabolic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

small molecule metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamine metabolic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-N-acetylglucosamine metabolic process

UDP-N-acetylglucosamine biosynthetic process

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein N-linked glycosylation

organic substance metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamine metabolic process

organophosphate metabolic process [inference]

fructose 6-phosphate metabolic process

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein N-linked glycosylation

carbohydrate derivative metabolic process [inference]

fructose 6-phosphate metabolic process

amino sugar metabolic process [inference]

UDP-N-acetylglucosamine metabolic process

UDP-N-acetylglucosamine biosynthetic process

amino sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

nucleotide-sugar metabolic process [inference]

UDP-N-acetylglucosamine metabolic process

UDP-N-acetylglucosamine biosynthetic process

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

carbohydrate derivative biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

amino sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-N-acetylglucosamine metabolic process

UDP-N-acetylglucosamine biosynthetic process

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

organic cyclic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamine metabolic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

organic substance biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

amino sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

organic cyclic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamine metabolic process

generation of precursor metabolites and energy [inference]

energy derivation by oxidation of organic compounds [inference]

energy reserve metabolic process

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-N-acetylglucosamine metabolic process

UDP-N-acetylglucosamine biosynthetic process

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

phosphorus metabolic process [inference]

UDP-N-acetylglucosamine metabolic process

UDP-N-acetylglucosamine biosynthetic process

phosphate-containing compound metabolic process [inference]

fructose 6-phosphate metabolic process

organophosphate metabolic process [inference]

fructose 6-phosphate metabolic process

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-N-acetylglucosamine metabolic process

UDP-N-acetylglucosamine biosynthetic process

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

cellular biosynthetic process [inference]

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

UDP-N-acetylglucosamine metabolic process

UDP-N-acetylglucosamine biosynthetic process

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-N-acetylglucosamine biosynthetic process

rhythmic process [inference]

circadian rhythm [inference]

circadian regulation of gene expression

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

circadian regulation of gene expression

regulation of cellular metabolic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

circadian regulation of gene expression

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

circadian regulation of gene expression

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

circadian regulation of gene expression

Displaying **all 2** entries
GO Term	Evidence Code	PMID
cytosol
extracellular exosome	HDA	20458337

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying **all 2** entries
GO Term	Evidence Code	PMID
carbohydrate derivative binding	IEA
glutamine-fructose-6-phosphate transaminase (isomerizing) activity	IBA TAS

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring nitrogenous groups [inference]

transaminase activity [inference]

L-glutamine aminotransferase activity [inference]

glutamine-fructose-6-phosphate transaminase (isomerizing) activity

binding [inference]

carbohydrate derivative binding

Gene Ontology information from NCBI Gene and UniProt.

KEGG BRITE Database

Orthology

K00820

Name

glutamine---fructose-6-phosphate transaminase (isomerizing) [EC:2.6.1.16]

References

Rhea

RHEA:13237

L-glutamine + D-fructose 6-phosphate

L-glutamate + D-glucosamine 6-phosphate

Enzyme

2.6.1.16

PMID

Disease

Disease Ontology

Displaying entries **11 - 20** of 60 in total

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DO ID	Disease Name	Source
DOID:0111338	isolated elevated serum creatine phosphokinase levels	DisGeNET
DOID:1029	familial periodic paralysis	DisGeNET
DOID:10534	stomach cancer	DisGeNET DisGeNET
DOID:10952	nephritis	DisGeNET
DOID:1168	familial hyperlipidemia	DisGeNET DisGeNET Alliance of Genome Resources
DOID:11836	clubfoot	DisGeNET
DOID:12506	Bell's palsy	DisGeNET
DOID:1319	brain cancer	DisGeNET
DOID:13934	facial paralysis	DisGeNET
DOID:1425	pyoureter	DisGeNET

The Human Phenotype Ontology

Displaying entries **21 - 30** of 60 in total

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HPO ID	HPO Term
HP:0002355	Difficulty walking
HP:0002359	Frequent falls
HP:0002421	Poor head control
HP:0002460	Distal muscle weakness
HP:0002515	Waddling gait
HP:0002650	Scoliosis
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0002804	Arthrogryposis multiplex congenita
HP:0002938	Lumbar hyperlordosis
HP:0003198	Myopathy

Displaying **all 3** entries
Disease ID	Disease Name
OMIM:610542	congenital myasthenic syndrome 12
OMIM:608931	congenital myasthenic syndrome 4C
ORPHA:353327	obsolete congenital myasthenic syndromes with glycosylation defect

PubChem Disease

MedGen Diseases

OMIM Phenotypes

MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12

KEGG Diseases

Congenital myasthenic syndrome

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **31 - 40** of 81 in total

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Species	Gene ID	Orthologous MAtrix
Mandrillus leucophaeus	105543201	MANLE21513
Gorilla gorilla gorilla	101131992	GORGO25759
Pan paniscus	100994132	PANPA24964
Pan troglodytes	450203	PANTR27807
Pongo abelii	100433102	PONAB23494
Canis lupus familiaris	474624	CANLF01913
Vulpes vulpes	112934408	VULVU30494
Mustela putorius furo	101693249	MUSPF17780
Felis catus	101093346	FELCA07252
Panthera leo	122216151	PANLE02400

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

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Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements