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

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)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Glutamine--Fructose-6-Phosphate Transaminase 11 2     Glutamine-Fructose-6-Phosphate Transaminase 11
GFPT1 2 3 5     CMSTA12
Glutamine:Fructose-6-Phosphate Amidotransferase 12 3     GFA2
Hexosephosphate Aminotransferase 12 3     GFAT1m2
GFAT2 3     GFPT1L2
GFAT12 3     MSLG2
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     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


(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 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 myasthenia, limb-girdle, with tubular aggregates, and gfpt1-related congenital myasthenic syndrome, and among its related super-pathways are UDP-N-acetyl-D-glucosamine biosynthesis II and WNT ligand biogenesis and trafficking. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  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 plasmidGFPT1 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 (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:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GFPT1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001231639.1  NP_002047.2  

    ENSEMBL proteins: 
     ENSP00000354347   ENSP00000349860  
    Reactome Protein details: Q06210
    Human Recombinant Protein Products for GFPT1: 
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    Cloud-Clone Corp. Proteins for GFPT1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    GFPT1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    GFPT1 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (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


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    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 plasmidGFPT1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GFPT1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1UDP-N-acetyl-D-glucosamine biosynthesis II
    UDP-N-acetyl-D-glucosamine biosynthesis II0.67
    Synthesis of UDP-N-acetyl-glucosamine0.67
    2Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation0.77
    Post-translational protein modification0.44
    WNT ligand biogenesis and trafficking0.77
    Metabolism of proteins0.35
    Signaling by Wnt0.62
    3Activation of Chaperone Genes by XBP1(S)
    Activation of Chaperones by IRE1alpha0.94
    Unfolded Protein Response0.76
    Activation of Chaperone Genes by XBP1(S)0.94
    4Biosynthesis 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 protein0.53
    Synthesis of substrates in N-glycan biosythesis0.53
    5Signaling by GPCR
    Signal Transduction0.55

    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


    5/12        Reactome Pathways for GFPT1 (see all 12)
        Signaling by Wnt
    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
    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): 5/20 biological process terms (GO ID links to tree view) (see all 20):    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--

    GFPT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 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)

    Search CenterWatch for drugs/clinical trials and news about GFPT1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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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 

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

    AA027828 CB243324 AA994213 AA382565 AA330466 AW896529 BX489786 CK822489 
    CA444749 BG777268 CA443453 BQ009959 AI246254 BQ002872 BP364999 BM770229 
    BC045641 BQ228214 M90516 AI160601 AI083534 BM744371 BM505027 BE669723 

    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™, 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)      GFPT1 embryonic expression: see
    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 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Colon (Gastrointestinal Tract)
             colonic mucosal (ibs)   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones

    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

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GFPT1 gene from 8/17 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 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)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GFA16
    Glutamine-fructose-6-phosphate amidotransferase, c...
    54(a)
    1 → many
    XI(243220-245373)
    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)
    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



    (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) 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

    10/1407 SNPs in GFPT1 are shown (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
    ----------
    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--------
    VAR_0653434
    Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1)4--see VAR_0653432 I T 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 138292    OMIM disorders: --

    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

  • 13 diseases for GFPT1:    About MalaCards
    myasthenia, limb-girdle, with tubular aggregates    gfpt1-related congenital myasthenic syndrome    congenital myasthenic syndrome    hyperglycemia
    insulin resistance    obesity    pneumonia    diabetes mellitus
    pancreatic cancer    tuberculosis    retinitis    pancreatitis
    gastric cancer

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

    GFPT1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for GFPT1 gene, integrated from 9 sources (see all 107):
    (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. Effect of +36T>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. (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. (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. (2005)
    8. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. (PubMed id 21310273)1, 2 Senderek J.... Lochmuller H. (2011)
    9. Glucose metabolism gene polymorphisms and clinical ou tcome in pancreatic cancer. (PubMed id 20845477)1, 4 Dong X....Li D. (2010)
    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. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2673 HGNC: 4241 AceView: GFPT1 Ensembl:ENSG00000198380 euGenes: HUgn2673
    ECgene: GFPT1 Kegg: 2673 H-InvDB: GFPT1

    (According to HUGE)
    About This Section
      --

    (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

    (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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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