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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 **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

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HPO ID	HPO Term
HP:0003828	Variable expressivity
HP:0006380	Knee flexion contracture
HP:0007126	Proximal amyotrophy
HP:0008180	Mildly elevated creatine kinase
HP:0009028	Generalized weakness of limb muscles
HP:0009046	Difficulty running
HP:0010628	Facial palsy
HP:0011463	Childhood onset
HP:0011968	Feeding difficulties
HP:0100301	Muscle fiber tubular inclusions

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 **51 - 60** of 81 in total

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Species	Gene ID	Orthologous MAtrix
Pelodiscus sinensis	102457021	PELSI05392
Vombatus ursinus	114045306	VOMUR04812
Bos indicus x Bos taurus	113901396	BOBOX18708
Otolemur garnettii	100955987	OTOGA09026
Takifugu rubripes	101071849	TAKRU29706
Chinchilla lanigera	102025483	CHILA07757
Aotus nancymaae	105704615	AOTNA37799
Phascolarctos cinereus	110207645	PHACI23847
Saimiri boliviensis boliviensis	101053058	SAIBB04860
Jaculus jaculus	101611596	JACJA13534

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