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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GFPT1 Gene

protein-coding   GIFtS: 64
GCID: GC02M069546

glutamine--fructose-6-phosphate transaminase 1

(Previous name: glutamine-fructose-6-phosphate transaminase 1 )
(Previous symbol: GFPT)
 Explore 14 diseases affiliated with
GFPT1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GFPT1    

Aliases
for GFPT1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Glutamine--Fructose-6-Phosphate Transaminase 11 2     EC 2.6.1.163 8
GFPT1 2 3 5     Glutamine-Fructose-6-Phosphate Transaminase 11
GFAT1 2 3     CMSTA12
GFAT11 2 3     GFAT1m2
GFA1 2     GFPT1L2
Glutamine:Fructose-6-Phosphate Amidotransferase 12 3     MSLG2
Hexosephosphate Aminotransferase 12 3     Glucosamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 12
D-Fructose-6-Phosphate Amidotransferase 12 3     Glutamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 12
GFAT 12 3     Glutamine:Fructose 6 Phosphate Amidotransferase 12

External Ids:    HGNC: 42411   Entrez Gene: 26732   Ensembl: ENSG000001983807   OMIM: 1382925   UniProtKB: Q062103   

Export aliases for GFPT1 gene to outside databases

Previous GC identifers: GC02P069621 GC02P069787 GC02M069510 GC02M069526 GC02M069464 GC02M069283


Summaries
for GFPT1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for GFPT1:
This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into
the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. (provided by
RefSeq, Sep 2008)

UniProtKB/Swiss-Prot: GFPT1_HUMAN, Q06210
Function: 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

Gene Wiki entry for GFPT1


Genomic Views
for GFPT1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GFPT1 gene promoter:
         AhR   SRF (504 AA)   SREBP-1c   SREBP-1b   Egr-4   Arnt   YY1   PPAR-alpha   Egr-2   SREBP-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GFPT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GFPT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GFPT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13   Ensembl cytogenetic band:  2p13.3   HGNC cytogenetic band: 2p13

GFPT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GFPT1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M069546:  view genomic region     (about GC identifiers)

Start:
 69,546,905 bp from pter      End:
 69,614,382 bp from pter
Size:
 67,478 bases      Orientation:
 minus strand

Proteins
for GFPT1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: GFPT1_HUMAN, Q06210 (See protein sequence)
Recommended Name: Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1  
Size: 699 amino acids; 78806 Da
Subunit: Homotetramer (Potential)
3 PDB 3D structures from and Proteopedia for GFPT1:
2V4M (3D)        2ZJ3 (3D)        2ZJ4 (3D)    
Secondary accessions: Q53QE6 Q9BXF8
Alternative splicing: 2 isoforms:  Q06210-1   Q06210-2   

Explore the universe of human proteins at neXtProt for GFPT1: NX_Q06210

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q06210

    • 4/23 DME Specific Peptides for GFPT1 (Q06210) (see all 23)
     EYRGYDS  KEIFEQP  IEHTNRV  RGYDSAG 

    GFPT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001231639.1  NP_002047.2  

    ENSEMBL proteins: 
     ENSP00000354347   ENSP00000349860  
    Reactome Protein details: Q06210
    Human Recombinant Protein Products: 
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    Uscn Proteins for GFPT1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005829cytosol TAS--


    GFPT1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for GFPT1

    Protein Domains /
    Families
    for GFPT1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GFPT1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR000583 GATase_dom
     IPR001347 SIS
     IPR005855 GlmS_trans
     IPR017932 GATase_2_dom

    Graphical View of Domain Structure for InterPro Entry Q06210

    ProtoNet protein and cluster: Q06210

    2 Blocks protein families:
    IPB000583 Glutamine amidotransferase
    IPB001347 Sugar isomerase (SIS)


    UniProtKB/Swiss-Prot: GFPT1_HUMAN, Q06210
    Similarity: Contains 1 glutamine amidotransferase type-2 domain
    Similarity: Contains 2 SIS domains


    Function
    for GFPT1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: GFPT1_HUMAN, Q06210
    Function: 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
    Catalytic activity: L-glutamine + D-fructose 6-phosphate = L-glutamate + D-glucosamine 6-phosphate

         Genatlas biochemistry entry for GFPT1:
    glutamine

    Enzyme Number (IUBMB): EC 2.6.1.161 2

    miRNA
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    hsa-mir-16 (MIRT001464)

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GFPT1
    8/81 QIAGEN miScript miRNA Assays for microRNAs that regulate GFPT1 (see all 81):
    hsa-miR-579 hsa-miR-607 hsa-miR-300 hsa-miR-4272 hsa-miR-128 hsa-miR-219-5p hsa-miR-149 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmid: GFPT1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GFPT1 (see all 7)
    OriGene shRNA RFP: GFPT1
    OriGene siRNA: GFPT1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GFPT1

    Gene Editing
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    Clone
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    Sino Biological Human cDNA Clone for GFPT1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GFPT1 

    Cell Line
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    Search LifeMap BioReagents cell lines for GFPT1

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFPT1

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004360glutamine-fructose-6-phosphate transaminase (isomerizing) activity IEA--
    GO:0016597amino acid binding IEA--
    GO:0030246carbohydrate binding IEA--


    GFPT1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for GFPT1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of Chaperone Genes by XBP1(S)
    		Activation of Chaperone Genes by XBP1(S)1.00
    		Unfolded Protein Response0.71
    		Activation of Chaperones by IRE1alpha0.94
    2Asparagine N-linked glycosylation
    		Asparagine N-linked glycosylation1.00
    		Metabolism of proteins0.15
    		Post-translational protein modification0.44
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    		Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein1.00
    		Synthesis of substrates in N-glycan biosythesis0.53
    4UDP-N-acetyl-D-glucosamine biosynthesis II
    		UDP-N-acetyl-D-glucosamine biosynthesis II1.00
    		Synthesis of UDP-N-acetyl-glucosamine0.67
    5Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for GFPT1
        Glucose / Energy Metabolism

    1 BioSystems Pathway for GFPT1 
        UDP-N-acetyl-D-glucosamine biosynthesis II

    5/10        Reactome Pathways for GFPT1 (see all 10)
        Asparagine N-linked glycosylation
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Synthesis of substrates in N-glycan biosythesis
    Expression of GFPT1
    Activation of Chaperone Genes by XBP1(S)


    3         Kegg Pathways  (Kegg details for GFPT1):
        Alanine, aspartate and glutamate metabolism
    Amino sugar and nucleotide sugar metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: GFPT1_HUMAN, Q06210
    Pathway: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate
    from D-fructose 6-phosphate: step 1/1


    GFPT1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GFPT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/55 Interacting proteins for GFPT1 (Q062103 ENSP000003543474) via UniProtKB, MINT, STRING, and/or I2D (see all 55)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKAA2P546463, ENSP000003602904I2D: score=3 STRING: ENSP00000360290
    PRKAB2O437413, ENSP000002541014I2D: score=2 STRING: ENSP00000254101
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    PRKCAP172523, ENSP000002843844I2D: score=2 STRING: ENSP00000284384
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006002fructose 6-phosphate metabolic process IEA--
    GO:0006042glucosamine biosynthetic process IEA--
    GO:0006047UDP-N-acetylglucosamine metabolic process ----
    GO:0006048UDP-N-acetylglucosamine biosynthetic process TAS--
    GO:0006112energy reserve metabolic process TAS1460020


    GFPT1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GFPT1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GFPT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GFPT1

    5 HMDB Compounds for GFPT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    FamotidineAmfamox (see all 83)76824-35-6--
    Fructose 6-phosphateD-Fructose 6-phosphate (see all 13)643-13-0--
    Glucosamine 6-phosphate2-Amino-2-deoxy-D-glucose 6-phosphate (see all 14)3616-42-0--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--
    10/16 Novoseek chemical compound relationships for GFPT1 gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hexosamines 89 2 11842094 (1), 7789306 (1)
    azaserine 86.2 12 12679868 (2), 12831837 (1), 16220784 (1), 16234270 (1) (see all 6)
    glucosamine 6-phosphate 84.6 4 11274905 (1), 11842094 (1), 19059404 (1), 12018941 (1)
    glucosamine 83.9 20 10916283 (2), 10997922 (2), 2002019 (2), 11916938 (2) (see all 13)
    fructose-6-phosphate 81.2 6 11842094 (2), 11274905 (1), 11679416 (1), 12580319 (1) (see all 5)
    udp-n-acetylglucosamine 78.8 4 11716769 (1), 11679416 (1), 12606504 (1), 17941647 (1)
    6-diazo-5-oxo-l-norleucine 78.7 2 10997922 (1), 11916938 (1)
    glucose 62.1 93 10830278 (6), 8636435 (6), 8638660 (5), 11916938 (4) (see all 33)
    glutamine 53.8 10 18060527 (2), 10997685 (1), 14757763 (1), 11274905 (1) (see all 7)
    n-acetylglucosamine 39.1 1 8638660 (1)

    Search CenterWatch for drugs/clinical trials and news about GFPT1 

    Transcripts
    for GFPT1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for GFPT1 gene (2 alternative transcripts): 
    NM_001244710.1  NM_002056.3  

    Unigene Cluster for GFPT1:

    Glutamine--fructose-6-phosphate transaminase 1
    Hs.580300  [show with all ESTs]
    Unigene Representative Sequence: NM_001244710
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361060 ENST00000493759 ENST00000494201 ENST00000357308(uc002sfi.2 uc002sfh.3)


    miRNA
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    hsa-miR-579 hsa-miR-607 hsa-miR-300 hsa-miR-4272 hsa-miR-128 hsa-miR-219-5p hsa-miR-149 hsa-miR-3148
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AF131846.1 AF334737.1 AF445027.1 BC045641.1 M90516.1 

    10 DOTS entries:

    DT.314831  DT.100744204  DT.413723  DT.120931508  DT.100785865  DT.102827379  DT.91662345  DT.97777095 
    DT.100652058  DT.120931482 

    24/332 AceView cDNA sequences (see all 332):

    M90516 BQ949081 BC045641 BE669723 BM744371 CB243324 BM770229 BG150309 
    BG057491 AA227536 CB048088 BG577413 AA227890 BQ002872 AA994213 BX641282 
    NM_002056 AW896529 AW589985 BG756179 BX458229 BM771493 CK822489 AA376468 

    GeneLoc Exon Structure


    Expression
    for GFPT1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GFPT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGGGTATCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See GFPT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GFPT1

    SOURCE GeneReport for Unigene cluster: Hs.580300

    UniProtKB/Swiss-Prot: GFPT1_HUMAN, Q06210
    Tissue specificity: Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be
    selectively expressed in striated muscle

        SABiosciences Expression via Pathway-Focused PCR Array including GFPT1: 
              Amino Acid Metabolism I in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for GFPT1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for GFPT1 gene from 8/33 species (see all 33)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves GFPT11 glutamine--fructose-6-phosphate transaminase 1 82.67(n)
    97.5(a)    		   419514  NM_001030882.1  NP_001026053.1 
    African clawed frog
    (Xenopus laevis)    		 Amphibia gfpt1-prov2 glutamine fructose-6-phosphate transaminase 1 77.81(n)    BC043809.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii gfpt11 glutamine-fructose-6-phosphate transaminase 1 74.55(n)
    88.99(a)    		   567861  NM_001034981.1  NP_001030153.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Gfat23 glucosamine-fructose-6-phosphate
    aminotransferase (isomerizing) less    		 65(a)
    (best of 2)    		   98C4   --
    worm
    (Caenorhabditis elegans)    		 Secernentea F22B3.43 glucosamine-fructose-6-phosphate
    aminotransferase less    		 58(a)
    (best of 3)    		   IV(11410687-11413019)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G240906
    		 putative glucosamine-fructose-6-phosphate aminotra...
    		 51(a)
    		 1 → many
    		 3(8697838-8700971)
    rice
    (Oryza sativa)    		 Liliopsida Os.186092 Oryza sativa (japonica cultivar-group) cDNA clone001-203-H06, full insert sequence less 76.3(n)    AK105856.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria glmS6
    frlB6
    		 fructoselysine-6-P-deglycase
    		 41(a)
    16(a)
    		 possible ortholog
    possible ortholog
    		 Chromosome(3909862-3911691)
    Chromosome(3499290-3500312)


    ENSEMBL Gene Tree for GFPT1 (if available)
    TreeFam Gene Tree for GFPT1 (if available) 

    Paralogs
    for GFPT1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GFPT1 gene
    GFPT22  
    1 SIMAP similar gene for GFPT1 using alignment to 1 protein entry:     GFPT1_HUMAN:
    GFPT2

    GFPT1 for paralogs           About GeneDecksing



    Genomic Variants
    for GFPT1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1148 NCBI SNPs in GFPT1 are shown (see all 1148)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs562503221,2
    		C,F,--69546480(+) AGGAGG/ATCAAG 2 -- ds50015Minor allele frequency- A:0.10WA NA EA 362
    rs1481729591,2
    		--69546578(+) CCCTAC/TCTTCT 2 -- ds50010--------
    rs1411131781,2
    		--69546699(+) GGCCAC/GCTTAT 2 -- ds50010--------
    rs1133681981,2
    		--69546878(+) TTCTAC/TGTAGC 2 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1384144041,2
    		--69546898(+) AGTAAA/GTTAAT 2 -- ds50010--------
    rs1159640311,2
    		F,--69546955(+) AAGAAA/GGAGTT 2 -- ut311Minor allele frequency- G:0.03WA 118
    rs557625411,2
    		C--69546966(+) CAAATC/TCAAAG 2 -- ut310--------
    rs767782691,2
    		--69547007(+) ACATAC/TAAAGT 2 -- ut311Minor allele frequency- T:0.01NA 120
    rs1473806961,2
    		--69547016(+) GTACAA/GTAGGA 2 -- ut310--------
    rs1932892281,2
    		--69547130(+) AAGCCC/TTAATT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for GFPT1 (69546905 - 69614382 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for GFPT1
         1 CNV: 7279
    Human Gene Mutation Database (HGMD): GFPT1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GFPT1
    DNA2.0 Custom Variant and Variant Library Synthesis for GFPT1

    Disorders / Diseases
    for GFPT1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GFPT1 for disorders           About GeneDecksing

    OMIM gene information: 138292    OMIM disorders: --

    UniProtKB/Swiss-Prot: GFPT1_HUMAN, Q06210
  • Defects in GFPT1 are the cause of myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1)
    • [MIM:610542]. A congenital myasthenic syndrome 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

    14 diseases for GFPT1:    About MalaCards
    myasthenic syndrome    congenital myasthenic syndrome    insulin resistance    hyperglycemia
    nephropathy    diabetes mellitus    obesity    pancreatic cancer
    pancreatitis    pneumonia    retinitis    tuberculosis
    malaria    mycobacterium tuberculosis

    1 disease from the University of Copenhagen DISEASES database for GFPT1:
    Congenital myasthenic syndrome

    8 Novoseek disease relationships for GFPT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glomerulosclerosis diabetic 63 1 10997922 (1)
    insulin resistance 61 18 17574229 (4), 1460020 (2), 11587069 (2), 2037572 (1) (see all 10)
    diabetic nephropathies 57.9 18 15308130 (4), 14988277 (3), 10997685 (1), 18060527 (1) (see all 6)
    hyperglycemia 35.4 3 17574229 (1), 10997922 (1), 8593934 (1)
    insulin sensitivity 29.1 4 8593937 (2), 7883119 (1), 8593934 (1)
    niddm 28.7 5 8593934 (3), 1460020 (1)
    renal disease 10.8 3 11399656 (1), 11163803 (1), 15308130 (1)
    obesity 0 3 1460020 (1), 15613432 (1)

    Genetic Association Database (GAD): GFPT1
    Human Genome Epidemiology (HuGE) Navigator: GFPT1 (7 documents)

    Export disorders for GFPT1 gene to outside databases

    Publications
    for GFPT1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GFPT1 gene, integrated from 9 sources (see all 102):
    (articles sorted by number of sources associating them with GFPT1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, cDNA sequence, and bacterial expression of human glutamine:fructose-6-phosphate amidotransferase. (PubMed id 1460020)1, 2, 3, 9 McKnight G.L.... O'Hara P.J. (1992)
    2. A novel variant of glutamine:fructose-6-phosphate amidotransferase-1 (GFAT1) mRNA is selectively expressed in striated muscle. (PubMed id 11679416)1, 2, 9 DeHaven J.E.... Buse M.G. (2001)
    3. Scrutiny of the glutamine-fructose-6-phosphate transaminase 1 (GFPT1) locus reveals conserved haplotype block structure not associated with diabetic nephropathy. (PubMed id 14988277)1, 4, 9 Ng D.P....Krolewski A.S. (2004)
    4. Molecular screening of the human glutamine-fructose-6-phosphate amidotransferase 1 (GFPT1) gene and association studies with diabetes and diabetic nephropathy. (PubMed id 15308130)1, 4, 9 Elbein S.C....Zhang Z. (2004)
    5. The -913 G/A glutamine:fructose-6-phosphate aminotransferase gene polymorphism is associated with measures of obesity and intramyocellular lipid content in nondiabetic subjects. (PubMed id 15613432)1, 4, 9 Weigert C....Schleicher E.D. (2005)
    6. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. (PubMed id 21310273)1, 2 Senderek J.... Lochmuller H. (2011)
    7. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. AMP-activated protein kinase phosphorylates glutamine : fructose-6-phosphate amidotransferase 1 at Ser243 to modulate its enzymatic activity. (PubMed id 19170765)1, 9 Eguchi S....Yonezawa K. (2009)

    External Searches for GFPT1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GFPT1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2673 HGNC: 4241 AceView: GFPT1 Ensembl:ENSG00000198380 euGenes: HUgn2673
    ECgene: GFPT1 Kegg: 2673 H-InvDB: GFPT1

    Other Databases showing GFPT1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GFPT1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GFPT1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for GFPT1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for GFPT1 gene:
    Search GeneIP for patents involving GFPT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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