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Protein

Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1

Gene

GFPT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

Catalytic activityi

L-glutamine + D-fructose 6-phosphate = L-glutamate + D-glucosamine 6-phosphate.By similarity

Pathwayi: UDP-N-acetyl-alpha-D-glucosamine biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate.By similarity
Proteins known to be involved in this subpathway in this organism are:
  1. Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 (GFPT1), Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 (GFPT2)
This subpathway is part of the pathway UDP-N-acetyl-alpha-D-glucosamine biosynthesis, which is itself part of Nucleotide-sugar biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate, the pathway UDP-N-acetyl-alpha-D-glucosamine biosynthesis and in Nucleotide-sugar biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei2For GATase activityBy similarity1
Binding sitei444SubstrateCombined sources1 Publication1
Binding sitei595SubstrateCombined sources1 Publication1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionAminotransferase, Transferase
Biological processBiological rhythms

Enzyme and pathway databases

BioCyciMetaCyc:HS09974-MONOMER
BRENDAi2.6.1.16 2681
ReactomeiR-HSA-381038 XBP1(S) activates chaperone genes
R-HSA-4085023 Defective GFPT1 causes CMSTA1
R-HSA-446210 Synthesis of UDP-N-acetyl-glucosamine
SIGNORiQ06210
UniPathwayi
UPA00113;UER00528

Protein family/group databases

MEROPSiC44.970

Names & Taxonomyi

Protein namesi
Recommended name:
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 (EC:2.6.1.16By similarity)
Alternative name(s):
D-fructose-6-phosphate amidotransferase 1
Glutamine:fructose-6-phosphate amidotransferase 1
Short name:
GFAT 1
Short name:
GFAT1
Hexosephosphate aminotransferase 1
Gene namesi
Name:GFPT1
Synonyms:GFAT, GFPT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000198380.12
HGNCiHGNC:4241 GFPT1
MIMi138292 gene
neXtProtiNX_Q06210

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Myasthenic syndrome, congenital, 12 (CMS12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:610542
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06533915T → A in CMS12. 1 PublicationCorresponds to variant dbSNP:rs387906638EnsemblClinVar.1
Natural variantiVAR_06534015T → M in CMS12. 1 PublicationCorresponds to variant dbSNP:rs751097758Ensembl.1
Natural variantiVAR_06534143D → V in CMS12. 1 Publication1
Natural variantiVAR_065342111R → C in CMS12. 1 PublicationCorresponds to variant dbSNP:rs201322234EnsemblClinVar.1
Natural variantiVAR_065343121I → T in CMS12. 1 PublicationCorresponds to variant dbSNP:rs753866967Ensembl.1
Natural variantiVAR_065344199V → F in CMS12. 1 Publication1
Natural variantiVAR_065345366D → Y in CMS12. 1 Publication1
Natural variantiVAR_065346403R → H in CMS12. 1 Publication1
Natural variantiVAR_065347452R → H in CMS12. 1 Publication1
Natural variantiVAR_065348509M → T in CMS12. 1 Publication1
Natural variantiVAR_065349510M → T in CMS12. 1 Publication1
Natural variantiVAR_065350514R → W in CMS12. 1 Publication1
Natural variantiVAR_065351530R → W in CMS12. 1 PublicationCorresponds to variant dbSNP:rs1024585946Ensembl.1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi2673
GeneReviewsiGFPT1
MalaCardsiGFPT1
MIMi610542 phenotype
OpenTargetsiENSG00000198380
Orphaneti353327 Congenital myasthenic syndromes with glycosylation defect
PharmGKBiPA28651

Chemistry databases

ChEMBLiCHEMBL1909481

Polymorphism and mutation databases

BioMutaiGFPT1
DMDMi30923274

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00001352802 – 699Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1Add BLAST698

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei103PhosphoserineCombined sources1
Modified residuei261PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ06210
MaxQBiQ06210
PaxDbiQ06210
PeptideAtlasiQ06210
PRIDEiQ06210
ProteomicsDBi58423
58424 [Q06210-2]

PTM databases

iPTMnetiQ06210
PhosphoSitePlusiQ06210
SwissPalmiQ06210

Expressioni

Tissue specificityi

Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle.1 Publication

Gene expression databases

BgeeiENSG00000198380 Expressed in 228 organ(s), highest expression level in colon
CleanExiHS_GFPT1
GenevisibleiQ06210 HS

Organism-specific databases

HPAiHPA047240

Interactioni

Subunit structurei

Homotetramer (Probable), may also exist as homodimers.1 Publication

Protein-protein interaction databases

BioGridi108941, 59 interactors
IntActiQ06210, 12 interactors
MINTiQ06210
STRINGi9606.ENSP00000354347

Chemistry databases

BindingDBiQ06210

Structurei

Secondary structure

1699
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ06210
SMRiQ06210
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ06210

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2 – 305Glutamine amidotransferase type-2PROSITE-ProRule annotationAdd BLAST304
Domaini377 – 516SIS 1PROSITE-ProRule annotationAdd BLAST140
Domaini548 – 689SIS 2PROSITE-ProRule annotationAdd BLAST142

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni313 – 680IsomeraseAdd BLAST368
Regioni394 – 395Substrate-bindingCombined sources1 Publication2
Regioni439 – 441Substrate-bindingCombined sources1 Publication3

Keywords - Domaini

Glutamine amidotransferase, Repeat

Phylogenomic databases

eggNOGiKOG1268 Eukaryota
COG0449 LUCA
GeneTreeiENSGT00390000010049
HOGENOMiHOG000258898
HOVERGENiHBG051724
InParanoidiQ06210
KOiK00820
OMAiASEYRYA
OrthoDBiEOG091G02N5
PhylomeDBiQ06210
TreeFamiTF300864

Family and domain databases

CDDicd05008 SIS_GlmS_GlmD_1, 1 hit
cd05009 SIS_GlmS_GlmD_2, 1 hit
InterProiView protein in InterPro
IPR017932 GATase_2_dom
IPR035466 GlmS/AgaS_SIS
IPR035490 GlmS/FrlB_SIS
IPR005855 GlmS_trans
IPR029055 Ntn_hydrolases_N
IPR001347 SIS
PfamiView protein in Pfam
PF01380 SIS, 2 hits
SUPFAMiSSF56235 SSF56235, 2 hits
TIGRFAMsiTIGR01135 glmS, 1 hit
PROSITEiView protein in PROSITE
PS51278 GATASE_TYPE_2, 1 hit
PS51464 SIS, 2 hits

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q06210-1) [UniParc]FASTAAdd to basket
Also known as: GFAT1m

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MCGIFAYLNY HVPRTRREIL ETLIKGLQRL EYRGYDSAGV GFDGGNDKDW
60 70 80 90 100
EANACKIQLI KKKGKVKALD EEVHKQQDMD LDIEFDVHLG IAHTRWATHG
110 120 130 140 150
EPSPVNSHPQ RSDKNNEFIV IHNGIITNYK DLKKFLESKG YDFESETDTE
160 170 180 190 200
TIAKLVKYMY DNRESQDTSF TTLVERVIQQ LEGAFALVFK SVHFPGQAVG
210 220 230 240 250
TRRGSPLLIG VRSEHKLSTD HIPILYRTAR TQIGSKFTRW GSQGERGKDK
260 270 280 290 300
KGSCNLSRVD STTCLFPVEE KAVEYYFASD ASAVIEHTNR VIFLEDDDVA
310 320 330 340 350
AVVDGRLSIH RIKRTAGDHP GRAVQTLQME LQQIMKGNFS SFMQKEIFEQ
360 370 380 390 400
PESVVNTMRG RVNFDDYTVN LGGLKDHIKE IQRCRRLILI ACGTSYHAGV
410 420 430 440 450
ATRQVLEELT ELPVMVELAS DFLDRNTPVF RDDVCFFLSQ SGETADTLMG
460 470 480 490 500
LRYCKERGAL TVGITNTVGS SISRETDCGV HINAGPEIGV ASTKAYTSQF
510 520 530 540 550
VSLVMFALMM CDDRISMQER RKEIMLGLKR LPDLIKEVLS MDDEIQKLAT
560 570 580 590 600
ELYHQKSVLI MGRGYHYATC LEGALKIKEI TYMHSEGILA GELKHGPLAL
610 620 630 640 650
VDKLMPVIMI IMRDHTYAKC QNALQQVVAR QGRPVVICDK EDTETIKNTK
660 670 680 690
RTIKVPHSVD CLQGILSVIP LQLLAFHLAV LRGYDVDFPR NLAKSVTVE
Length:699
Mass (Da):78,806
Last modified:January 23, 2007 - v3
Checksum:iF0533A7B762C7B98
GO
Isoform 2 (identifier: Q06210-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     229-246: Missing.

Show »
Length:681
Mass (Da):76,759
Checksum:i5CB56FDB5E4F76FA
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06533915T → A in CMS12. 1 PublicationCorresponds to variant dbSNP:rs387906638EnsemblClinVar.1
Natural variantiVAR_06534015T → M in CMS12. 1 PublicationCorresponds to variant dbSNP:rs751097758Ensembl.1
Natural variantiVAR_06534143D → V in CMS12. 1 Publication1
Natural variantiVAR_065342111R → C in CMS12. 1 PublicationCorresponds to variant dbSNP:rs201322234EnsemblClinVar.1
Natural variantiVAR_065343121I → T in CMS12. 1 PublicationCorresponds to variant dbSNP:rs753866967Ensembl.1
Natural variantiVAR_065344199V → F in CMS12. 1 Publication1
Natural variantiVAR_065345366D → Y in CMS12. 1 Publication1
Natural variantiVAR_065346403R → H in CMS12. 1 Publication1
Natural variantiVAR_065347452R → H in CMS12. 1 Publication1
Natural variantiVAR_065348509M → T in CMS12. 1 Publication1
Natural variantiVAR_065349510M → T in CMS12. 1 Publication1
Natural variantiVAR_065350514R → W in CMS12. 1 Publication1
Natural variantiVAR_065351530R → W in CMS12. 1 PublicationCorresponds to variant dbSNP:rs1024585946Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_007497229 – 246Missing in isoform 2. 2 PublicationsAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M90516 mRNA Translation: AAA58502.1
AC114772 Genomic DNA Translation: AAY14827.1
BC045641 mRNA Translation: AAH45641.1
AF334737 mRNA Translation: AAK15342.1
CCDSiCCDS33216.1 [Q06210-2]
CCDS58713.1 [Q06210-1]
PIRiA45055
RefSeqiNP_001231639.1, NM_001244710.1 [Q06210-1]
NP_002047.2, NM_002056.3 [Q06210-2]
UniGeneiHs.580300

Genome annotation databases

EnsembliENST00000357308; ENSP00000349860; ENSG00000198380 [Q06210-1]
ENST00000361060; ENSP00000354347; ENSG00000198380 [Q06210-2]
GeneIDi2673
KEGGihsa:2673
UCSCiuc002sfh.4 human [Q06210-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiGFPT1_HUMAN
AccessioniPrimary (citable) accession number: Q06210
Secondary accession number(s): Q53QE6, Q9BXF8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: January 23, 2007
Last modified: September 12, 2018
This is version 184 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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