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GFPT1 Gene

protein-coding   GIFtS: 66
GCID: GC02M069546

Glutamine--Fructose-6-Phosphate Transaminase 1

(Previous name: glutamine-fructose-6-phosphate transaminase 1)
(Previous symbol: GFPT)
  See GFPT1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glutamine--Fructose-6-Phosphate Transaminase 11 2     CMSTA12 5
GFPT1 2 3     GFPT1L2 5
GFAT12 3 5     MSLG2 5
Glutamine:Fructose-6-Phosphate Amidotransferase 12 3     Glutamine-Fructose-6-Phosphate Transaminase 11
Hexosephosphate Aminotransferase 12 3     GFA2
GFAT2 3     GFAT1m2
D-Fructose-6-Phosphate Amidotransferase 12 3     Glucosamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 12
GFAT 12 3     Glutamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 12
EC 2.6.1.163 8     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GFPT1 Gene:
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)

GeneCards Summary for GFPT1 Gene:
GFPT1 (glutamine--fructose-6-phosphate transaminase 1) is a protein-coding gene. Diseases associated with GFPT1 include gfpt1-related congenital myasthenic syndrome, and myasthenia, congenital, with tubular aggregates 1. GO annotations related to this gene include carbohydrate binding and glutamine-fructose-6-phosphate transaminase (isomerizing) activity. An important paralog of this gene is GFPT2.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   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 plasmidGFPT1 promoter sequence
   Search Chromatin IP Primers for GFPT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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 (Probable), may also exist as homodimers
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

Explore proteomics data for GFPT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys25, Lys48
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GFPT1 (Q06210) (see all 23)
     EYRGYDS  KEIFEQP  IEHTNRV  RGYDSAG 


    See GFPT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000354347   ENSP00000349860  
    Reactome Protein details: Q06210

    GFPT1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     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 domains:
    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


    Find genes that share domains with GFPT1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 3 molecular function terms:    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--
         
    Find genes that share ontologies with GFPT1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GFPT1
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    miRTarBase miRNAs that target GFPT1:
    hsa-mir-16-5p (MIRT001464), hsa-mir-34a-5p (MIRT025445), hsa-mir-335-5p (MIRT017993), hsa-mir-590-3p (MIRT016186)

    Block miRNA regulation of human, mouse, rat GFPT1 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidGFPT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GFPT1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: GFPT1 (NM_002056)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFPT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA--

    Find genes that share ontologies with GFPT1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GFPT1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism
    UDP-N-acetyl-D-glucosamine biosynthesis II0.00
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Metabolism of proteins0.30
    Post-translational protein modification0.43
    Synthesis of substrates in N-glycan biosythesis0.00
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
    Synthesis of UDP-N-acetyl-glucosamine0.00
    3Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    4Metabolism
    Metabolic pathways0.38
    5Glucose / Energy Metabolism
    Glucose / Energy Metabolism


    Find genes that share SuperPaths with GFPT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    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


    2 Reactome Pathways for GFPT1
        XBP1(S) activates chaperone genes
    Synthesis of UDP-N-acetyl-glucosamine


    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

        Pathway & Disease-focused RT2 Profiler PCR Array including GFPT1: 

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GFPT1

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

    Selected Interacting proteins for GFPT1 (Q062103 ENSP000003543474) via UniProtKB, MINT, STRING, and/or I2D (see all 103)
    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
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    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    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--

    Find genes that share ontologies with GFPT1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected Novoseek inferred 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)



    Find genes that share compounds with GFPT1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)

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    Selected qRT-PCR 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 plasmidGFPT1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat GFPT1
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 332):

    BQ949081 CB215202 CA443453 AA227536 AA994213 CK822489 CR598871 CB243324 
    BP364999 M90516 AW589985 CB048088 BG756179 AA330466 BM505027 T28395 
    BM770229 BM929774 BG577413 BX641282 NM_002056 AW044245 AA581207 BF056250 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GFPT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGGTATCC
    GFPT1 Expression
    About this image


    GFPT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)
    GFPT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GFPT1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including GFPT1: 
              Amino Acid Metabolism I in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFPT1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GFPT1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gfpt11 , 5 glutamine fructose-6-phosphate transaminase 11, 5 90.6(n)1
    99.12(a)1
      6 (37.81 cM)5
    145831  NM_013528.31  NP_038556.11 
     870428465 
    chicken
    (Gallus gallus)
    Aves GFPT11 glutamine--fructose-6-phosphate transaminase 1 81.26(n)
    95.42(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 74.54(n)
    88.86(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)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GFA16
    Glutamine-fructose-6-phosphate amidotransferase, c...
    54(a)
    1 → many
    XI(243220-245373) YKL104C
    rice
    (Oryza sativa)
    Liliopsida Os.186092 Oryza sativa (japonica cultivar-group) cDNA clone001-203-H06, full insert sequence less 76.3(n)    AK105856.1 


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

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

    Find genes that share paralogs with GFPT1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GFPT1 (see all 1407)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2013222341,2,,4
    Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)4 --69457644(+) AGAGCA/GCTGGG 4 R C mis10--------
    VAR_0653444
    Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)4--see VAR_0653442 V F mis40--------
    VAR_0653394
    Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)4--see VAR_0653392 T A mis40--------
    VAR_0653474
    Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)4--see VAR_0653472 R H mis40--------
    VAR_0653494
    Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)4--see VAR_0653492 M T mis40--------
    VAR_0653454
    Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)4--see VAR_0653452 D Y mis40--------
    VAR_0653404
    Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)4--see VAR_0653402 T M mis40--------
    VAR_0653484
    Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)4--see VAR_0653482 M T mis40--------
    VAR_0653464
    Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)4--see VAR_0653462 R H mis40--------
    VAR_0653414
    Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)4--see VAR_0653412 D V mis40--------

    HapMap Linkage Disequilibrium report for GFPT1 (69546905 - 69614382 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GFPT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720174CNV Deletion23290073
    esv33940CNV Loss17666407
    nsv834252CNV Loss17160897

    Human Gene Mutation Database (HGMD): GFPT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GFPT1
    DNA2.0 Custom Variant and Variant Library Synthesis for GFPT1

    (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.)
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    OMIM gene information: 138292   
    OMIM disorders: 610542  
    UniProtKB/Swiss-Prot: GFPT1_HUMAN, Q06210
  • Myasthenic syndrome, congenital, with tubular aggregates, 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for GFPT1:    
    About MalaCards
    gfpt1-related congenital myasthenic syndrome    myasthenia, congenital, with tubular aggregates 1    myasthenia, limb-girdle, with tubular aggregates    congenital myasthenic syndrome with tubular aggregates 2

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

    Find genes that share disorders with GFPT1           About GenesLikeMe

    8 Novoseek inferred 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

    (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)
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    PubMed articles for GFPT1 gene, integrated from 10 sources (see all 108):
    (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. (J. Biol. Chem. 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. (Diabetes 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. (Diabetes 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. (Mol. Genet. Metab. 2004)
    5. Effect of +36T&gt;C in intron 1 on the glutamine: fructose-6-phosphate amidotransferase 1 gene and its contribution to type 2 diabetes in different populations. (PubMed id 17024311)1, 4, 9 Kunika K....Itakura M. (J. Hum. Genet. 2006)
    6. Structural analysis of human glutamine:fructose-6-phosphate amidotransferase, a key regulator in type 2 diabetes. (PubMed id 19059404)1, 2, 9 Nakaishi Y.... Komatsu M. (FEBS Lett. 2009)
    7. 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. (J. Clin. Endocrinol. Metab. 2005)
    8. Glucose metabolism gene polymorphisms and clinical outcome in pancreatic cancer. (PubMed id 20845477)1, 4 Dong X....Li D. (Cancer 2011)
    9. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. (PubMed id 21310273)1, 2 Senderek J.... Lochmuller H. (Am. J. Hum. Genet. 2011)
    10. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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