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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 **6 - 7** of 7 in total

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GO Term	Evidence Code	PMID
UDP-N-acetylglucosamine metabolic process	IBA
fructose 6-phosphate metabolic process	IBA

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

L-glutamine + D-fructose 6-phosphate

L-glutamate + D-glucosamine 6-phosphate

Enzyme

2.6.1.16

PMID

Disease

Disease Ontology

Displaying entries **41 - 50** of 60 in total

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DO ID	Disease Name	Source
DOID:422	congenital structural myopathy	DisGeNET
DOID:423	myopathy	DisGeNET
DOID:439	neuromuscular junction disease	DisGeNET
DOID:440	neuromuscular disease	DisGeNET
DOID:4480	achondroplasia	DisGeNET
DOID:4766	embryoma	DisGeNET
DOID:4905	pancreatic carcinoma	DisGeNET DisGeNET
DOID:539	ophthalmoplegia	DisGeNET DisGeNET
DOID:540	strabismus	DisGeNET
DOID:5517	stomach carcinoma	DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying entries **41 - 50** of 60 in total

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HPO ID	HPO Term
HP:0003473	Fatigable weakness
HP:0003551	Difficulty climbing stairs
HP:0003554	Type 2 muscle fiber atrophy
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0003623	Neonatal onset
HP:0003680	Nonprogressive
HP:0003691	Scapular winging
HP:0003701	Proximal muscle weakness
HP:0003803	Type 1 muscle fiber predominance

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 **1 - 10** of 81 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	174778	WB:WBGene00008546
Caenorhabditis elegans	178067	WB:WBGene00009035
Drosophila melanogaster	43373	FB:FBgn0039580
Drosophila melanogaster	3354921	FB:FBgn0287209
Callorhinchus milii	103190263		CALMI43365
Latimeria chalumnae	102345618		LATCH18907
Danio rerio	567861	ZFIN:ZDB-GENE-070423-1	DANRE43391
Astyanax mexicanus	103023534		ASTMX17560
Ictalurus punctatus	108265349		ICTPU29202
Salmo salar	106585600		SALSA89305

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Last updated: August 19, 2024