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Protein

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

Gene

GFPT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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] 2 (GFPT2), Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 (GFPT1)
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

Complete GO annotation...

Keywords - Molecular functioni

Aminotransferase, Transferase

Keywords - Biological processi

Biological rhythms

Enzyme and pathway databases

BioCyciMetaCyc:HS09974-MONOMER.
ZFISH:HS09974-MONOMER.
BRENDAi2.6.1.16. 2681.
ReactomeiR-HSA-381038. XBP1(S) activates chaperone genes.
R-HSA-446210. Synthesis of UDP-N-acetyl-glucosamine.
SIGNORiQ06210.
UniPathwayiUPA00113; 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

HGNCiHGNC:4241. GFPT1.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

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 rs387906638dbSNPEnsembl.1
Natural variantiVAR_06534015T → M in CMS12. 1 PublicationCorresponds to variant rs751097758dbSNPEnsembl.1
Natural variantiVAR_06534143D → V in CMS12. 1 Publication1
Natural variantiVAR_065342111R → C in CMS12. 1 PublicationCorresponds to variant rs201322234dbSNPEnsembl.1
Natural variantiVAR_065343121I → T in CMS12. 1 PublicationCorresponds to variant rs753866967dbSNPEnsembl.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 Publication1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi2673.
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.

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.
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. 58 interactors.
IntActiQ06210. 11 interactors.
MINTiMINT-5001216.
STRINGi9606.ENSP00000354347.

Chemistry databases

BindingDBiQ06210.

Structurei

Secondary structure

1699
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi339 – 341Combined sources3
Helixi342 – 348Combined sources7
Helixi350 – 358Combined sources9
Turni359 – 361Combined sources3
Turni364 – 367Combined sources4
Helixi372 – 374Combined sources3
Turni375 – 377Combined sources3
Helixi378 – 383Combined sources6
Beta strandi385 – 391Combined sources7
Helixi393 – 410Combined sources18
Beta strandi414 – 418Combined sources5
Helixi419 – 424Combined sources6
Beta strandi433 – 442Combined sources10
Helixi445 – 456Combined sources12
Beta strandi460 – 466Combined sources7
Helixi471 – 475Combined sources5
Beta strandi476 – 481Combined sources6
Beta strandi489 – 491Combined sources3
Helixi494 – 510Combined sources17
Turni511 – 513Combined sources3
Helixi515 – 517Combined sources3
Helixi518 – 539Combined sources22
Helixi542 – 552Combined sources11
Beta strandi556 – 562Combined sources7
Helixi564 – 566Combined sources3
Helixi567 – 581Combined sources15
Beta strandi584 – 589Combined sources6
Helixi590 – 595Combined sources6
Helixi597 – 600Combined sources4
Beta strandi602 – 605Combined sources4
Beta strandi607 – 611Combined sources5
Helixi617 – 629Combined sources13
Beta strandi635 – 639Combined sources5
Helixi643 – 648Combined sources6
Beta strandi650 – 655Combined sources6
Turni660 – 662Combined sources3
Helixi663 – 667Combined sources5
Helixi669 – 681Combined sources13
Beta strandi686 – 688Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2V4MX-ray2.29A/B/C/D332-699[»]
2ZJ3X-ray1.90A332-699[»]
2ZJ4X-ray2.20A332-699[»]
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

Sequence similaritiesi

Contains 1 glutamine amidotransferase type-2 domain.PROSITE-ProRule annotation
Contains 2 SIS domains.PROSITE-ProRule annotation

Keywords - Domaini

Glutamine amidotransferase, Repeat

Phylogenomic databases

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

Family and domain databases

Gene3Di3.60.20.10. 2 hits.
InterProiIPR017932. GATase_2_dom.
IPR005855. GlmS_trans.
IPR029055. Ntn_hydrolases_N.
IPR001347. SIS.
[Graphical view]
PfamiPF01380. SIS. 2 hits.
[Graphical view]
SUPFAMiSSF56235. SSF56235. 2 hits.
TIGRFAMsiTIGR01135. glmS. 1 hit.
PROSITEiPS51278. GATASE_TYPE_2. 1 hit.
PS51464. SIS. 2 hits.
[Graphical view]

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 rs387906638dbSNPEnsembl.1
Natural variantiVAR_06534015T → M in CMS12. 1 PublicationCorresponds to variant rs751097758dbSNPEnsembl.1
Natural variantiVAR_06534143D → V in CMS12. 1 Publication1
Natural variantiVAR_065342111R → C in CMS12. 1 PublicationCorresponds to variant rs201322234dbSNPEnsembl.1
Natural variantiVAR_065343121I → T in CMS12. 1 PublicationCorresponds to variant rs753866967dbSNPEnsembl.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 Publication1

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

Cross-referencesi

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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2V4MX-ray2.29A/B/C/D332-699[»]
2ZJ3X-ray1.90A332-699[»]
2ZJ4X-ray2.20A332-699[»]
ProteinModelPortaliQ06210.
SMRiQ06210.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108941. 58 interactors.
IntActiQ06210. 11 interactors.
MINTiMINT-5001216.
STRINGi9606.ENSP00000354347.

Chemistry databases

BindingDBiQ06210.
ChEMBLiCHEMBL1909481.

Protein family/group databases

MEROPSiC44.970.

PTM databases

iPTMnetiQ06210.
PhosphoSitePlusiQ06210.
SwissPalmiQ06210.

Polymorphism and mutation databases

BioMutaiGFPT1.
DMDMi30923274.

Proteomic databases

EPDiQ06210.
MaxQBiQ06210.
PaxDbiQ06210.
PeptideAtlasiQ06210.
PRIDEiQ06210.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2673.
DisGeNETi2673.
GeneCardsiGFPT1.
GeneReviewsiGFPT1.
HGNCiHGNC:4241. GFPT1.
HPAiHPA047240.
MalaCardsiGFPT1.
MIMi138292. gene.
610542. phenotype.
neXtProtiNX_Q06210.
OpenTargetsiENSG00000198380.
Orphaneti353327. Congenital myasthenic syndromes with glycosylation defect.
PharmGKBiPA28651.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00113; UER00528.
BioCyciMetaCyc:HS09974-MONOMER.
ZFISH:HS09974-MONOMER.
BRENDAi2.6.1.16. 2681.
ReactomeiR-HSA-381038. XBP1(S) activates chaperone genes.
R-HSA-446210. Synthesis of UDP-N-acetyl-glucosamine.
SIGNORiQ06210.

Miscellaneous databases

ChiTaRSiGFPT1. human.
EvolutionaryTraceiQ06210.
GeneWikiiGFPT1.
GenomeRNAii2673.
PROiQ06210.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198380.
CleanExiHS_GFPT1.
GenevisibleiQ06210. HS.

Family and domain databases

Gene3Di3.60.20.10. 2 hits.
InterProiIPR017932. GATase_2_dom.
IPR005855. GlmS_trans.
IPR029055. Ntn_hydrolases_N.
IPR001347. SIS.
[Graphical view]
PfamiPF01380. SIS. 2 hits.
[Graphical view]
SUPFAMiSSF56235. SSF56235. 2 hits.
TIGRFAMsiTIGR01135. glmS. 1 hit.
PROSITEiPS51278. GATASE_TYPE_2. 1 hit.
PS51464. SIS. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGFPT1_HUMAN
AccessioniPrimary (citable) accession number: Q06210
Secondary accession number(s): Q53QE6, Q9BXF8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 168 of the entry and version 3 of the sequence. [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

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.