Reactome | UniProt:Q06210 GFPT1

chain	initiator methionine:1 chain:2-699
checksum	F0533A7B762C7B98
comment	FUNCTION Rate-limiting enzyme of the hexosamine biosynthetic pathway (HBP) that catalyzes the formation of glucosamine-6-phosphate from fructose-6-phosphate and glutamine, thereby controlling the flux of glucose into this pathway (PubMed:32019926, PubMed:35229715). Inhibited by UDP-N-acetylglucosamine (UDP-GlcNAc) through a feedback loop (PubMed:32019926, PubMed:35229715). Fine-tunes the metabolic fluctuations of UDP-GlcNAc and its impacts on hyaluronan synthesis during tissue remodeling (PubMed:26887390). Via control of the HPB, regulates the availability of precursors for N- and O-linked protein glycosylation and modulates peripheral clock oscillation (By similarity).CATALYTIC ACTIVITY D-fructose 6-phosphate + L-glutamine = D-glucosamine 6-phosphate + L-glutamateACTIVITY REGULATION Inhibited by UDP-GlcNAc.BIOPHYSICOCHEMICAL PROPERTIES 3.6 kcat is sec(-1) with L-glutamine as substrate (PubMed:32019926, PubMed:35229715). 1.7 kcat is sec(-1) with D-fructose 6-phosphate as substrate (PubMed:32019926, PubMed:35229715).PATHWAY Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate: step 1/1.SUBUNIT Homodimer; forms an asymmetric dimer (PubMed:19059404, PubMed:32019926). Homotetramer (By similarity).INTERACTION Predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle.DISEASE The disease is caused by variants affecting the gene represented in this entry.
crossReference	[DatabaseIdentifier:12196448] PDB:6ZMK [DatabaseIdentifier:12815504] ZINC target:Q06210 [DatabaseIdentifier:12812149] ZINC - Substances:GFPT1_HUMAN [DatabaseIdentifier:12810253] ZINC - Predictions - Purchasable:GFPT1_HUMAN [DatabaseIdentifier:12807378] ZINC - Metabolites:GFPT1_HUMAN [DatabaseIdentifier:12804592] ZINC - Biogenic:GFPT1_HUMAN [DatabaseIdentifier:12377987] RefSeq:NP_002047.2 [DatabaseIdentifier:12377986] RefSeq:NP_001231639.1 [DatabaseIdentifier:12288177] Pharos - Targets:Q06210 [DatabaseIdentifier:12269445] PRO:Q06210 [DatabaseIdentifier:12196441] PDB:6SVM [DatabaseIdentifier:12196433] PDB:6SVQ [DatabaseIdentifier:12196445] PDB:6R4G [DatabaseIdentifier:12196434] PDB:2V4M [DatabaseIdentifier:11476721] ENSEMBL:ENSG00000198380 [DatabaseIdentifier:11576253] ENSEMBL:ENSP00000349860 [DatabaseIdentifier:11576252] ENSEMBL:ENSP00000354347 [DatabaseIdentifier:11698952] ENSEMBL:ENST00000357308 [DatabaseIdentifier:11698951] ENSEMBL:ENST00000361060 [DatabaseIdentifier:11790333] GeneCards:GFPT1 [DatabaseIdentifier:11806184] GlyGen:Q06210 [DatabaseIdentifier:11831157] HMDB Protein:HMDBP00216 [DatabaseIdentifier:11843346] HPA:ENSG00000198380-GFPT1 [DatabaseIdentifier:11850367] IntEnz:2.6.1.16 [DatabaseIdentifier:12127952] OpenTargets:ENSG00000198380 [DatabaseIdentifier:12136125] Orphanet:GFPT1 [DatabaseIdentifier:12196436] PDB:6R4I [DatabaseIdentifier:12196435] PDB:7NDL [DatabaseIdentifier:12196442] PDB:6SVP [DatabaseIdentifier:12196444] PDB:6R4E [DatabaseIdentifier:12196440] PDB:6R4J [DatabaseIdentifier:12196447] PDB:6ZMJ [DatabaseIdentifier:12196439] PDB:2ZJ4 [DatabaseIdentifier:12196438] PDB:6R4H [DatabaseIdentifier:12196443] PDB:6SVO [DatabaseIdentifier:12196437] PDB:2ZJ3 [DatabaseIdentifier:12196446] PDB:6R4F
databaseName	UniProt
dbId	55576
description	recommendedName: Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 ecNumber evidence="11 12"2.6.1.16 alternativeName: D-fructose-6-phosphate amidotransferase 1 alternativeName: Glutamine:fructose-6-phosphate amidotransferase 1 shortName: GFAT 1 shortName evidence="15"GFAT1 alternativeName: Hexosephosphate aminotransferase 1
displayName	UniProt:Q06210 GFPT1
geneName	GFPT1 GFAT GFPT
identifier	Q06210
isSequenceChanged	false
keyword	3D-structure Alternative splicing Aminotransferase Biological rhythms Congenital myasthenic syndrome Disease variant Glutamine amidotransferase Phosphoprotein Proteomics identification Reference proteome Repeat Transferase
modified	[InstanceEdit:9983091] Weiser, Joel, 2026-02-20
moleculeType	Protein
name	GFPT1
otherIdentifier	11720221_at 11720222_at 11720223_at 11757975_s_at 11758456_s_at 16898578 202721_PM_s_at 202721_s_at 202722_PM_s_at 202722_s_at 226886_PM_at 226886_at 227027_PM_at 227027_at 2558063 2558064 2558065 2558066 2558067 2558068 2558069 2558070 2558071 2558072 2558073 2558074 2558075 2558077 2558078 2558082 2558085 2558086 2558087 2558088 2558089 2558092 2558094 2558095 2558097 2558099 2558100 2558102 2558106 2558109 2558110 2673 32626_at 3284171 61346_at 8052762 90240_at A_23_P345887 A_23_P44083 A_33_P3243153 GE54887 GE58132 GO:0004360 GO:0005515 GO:0005829 GO:0006002 GO:0006047 GO:0006048 GO:0006112 GO:0006486 GO:0006487 GO:0008483 GO:0016740 GO:0032922 GO:0048511 GO:0055086 GO:0070062 GO:0097367 GO:1901135 GO:1901137 HMNXSV003038583 Hs.13396.0.A1_3p_at Hs.1674.0.S1_3p_a_at Hs.24723.0.A1_3p_at ILMN_2220184 ILMN_2220187 M90516_at PH_hs_0000227 PH_hs_0039878 TC02001948.hg g4503980_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-532216] GFPT1 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-4341665] GFPT1 W240* [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-4341671] GFPT1 D348Y [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-4341655] GFPT1 R111C [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-4341657] GFPT1 T147Qfs*61 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-4341662] GFPT1 T15A [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000198380] ENSEMBL:ENSG00000198380 GFPT1 [ReferenceDNASequence:12740644] UCSC:Q06210 GFPT1 [ReferenceDNASequence:11342138] BioGPS Gene:2673 GFPT1 [ReferenceDNASequence:11399933] COSMIC - genes:GFPT1 GFPT1 [ReferenceDNASequence:11417621] CTD Gene:2673 GFPT1 [ReferenceDNASequence:11436989] dbSNP Gene:2673 GFPT1 [ReferenceDNASequence:11821994] HGNC:4241 GFPT1 [ReferenceDNASequence:11882746] KEGG:hsa:2673 GFPT1 [ReferenceDNASequence:11971927] Monarch:2673 GFPT1 [ReferenceDNASequence:12056020] NCBI Gene:2673 GFPT1 [ReferenceDNASequence:12112766] OMIM:138292 GFPT1
referenceTranscript	[ReferenceRNASequence:12559778] RefSeq:NM_002056.4 GFPT1 [ReferenceRNASequence:12559777] RefSeq:NM_001244710.2 GFPT1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	GFPT1_HUMAN Q53QE6 Q9BXF8
sequenceLength	699
species	[Species:48887] Homo sapiens
stId	uniprot:Q06210
url	http://purl.uniprot.org/uniprot/Q06210

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-532216] GFPT1 [cytosol] [EntityWithAccessionedSequence:R-HSA-4341665] GFPT1 W240* [cytosol] [EntityWithAccessionedSequence:R-HSA-4341671] GFPT1 D348Y [cytosol] [EntityWithAccessionedSequence:R-HSA-4341655] GFPT1 R111C [cytosol] [EntityWithAccessionedSequence:R-HSA-4341657] GFPT1 T147Qfs*61 [cytosol] [EntityWithAccessionedSequence:R-HSA-4341662] GFPT1 T15A [cytosol]
(referenceSequence)	[NonsenseMutation:4341664] Nonsense mutation at L-tryptophan 240 [ReplacedResidue:4341666] L-aspartic acid 348 replaced with L-tyrosine [ReplacedResidue:4341663] L-arginine 111 replaced with L-cysteine [FragmentReplacedModification:4341658] Replacement of residues 147 to 207 by QTQRQLPSSLSICMTIGKVKIPALLPWWRELSNNWKVLLHLCLKVFIFPGKQLAQGEVALC [ReplacedResidue:4341673] L-threonine 15 replaced with L-alanine
(interactor)	[UndirectedInteraction:11148853] UniProt:P13569 <-> UniProt:Q06210 (IntAct) [UndirectedInteraction:11208339] UniProt:P01106 <-> UniProt:Q06210 (IntAct) [UndirectedInteraction:11273321] UniProt:Q06210 <-> UniProt:O94808 (IntAct)

UniProt:Q06210 GFPT1 Show undefined attributes

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