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    Gfpt1 glutamine fructose-6-phosphate transaminase 1 [ Mus musculus (house mouse) ]

    Gene ID: 14583, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Gfpt1provided by MGI
    Official Full Name
    glutamine fructose-6-phosphate transaminase 1provided by MGI
    Primary source
    MGI:MGI:95698
    See related
    Ensembl:ENSMUSG00000029992 AllianceGenome:MGI:95698
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    GFA; GFAT; Gfpt; GFAT1; GFAT1m; 2810423A18Rik
    Summary
    Predicted to enable several functions, including amino acid binding activity; glutamine-fructose-6-phosphate transaminase (isomerizing) activity; and identical protein binding activity. Involved in circadian regulation of gene expression. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and sensory organ. Used to study congenital myasthenic syndrome 12. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 12 and obesity. Orthologous to human GFPT1 (glutamine--fructose-6-phosphate transaminase 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in colon adult (RPKM 40.5), large intestine adult (RPKM 20.6) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gfpt1 in Genome Data Viewer
    Location:
    6 D1; 6 37.81 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (87019828..87069189)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (87042846..87092207)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 2610306M01 gene Neighboring gene AP2 associated kinase 1 Neighboring gene STARR-positive B cell enhancer ABC_E9670 Neighboring gene STARR-positive B cell enhancer ABC_E8113 Neighboring gene STARR-seq mESC enhancer starr_16545 Neighboring gene NFU1 iron-sulfur cluster scaffold Neighboring gene STARR-positive B cell enhancer ABC_E6452 Neighboring gene STARR-seq mESC enhancer starr_16547 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:87025148-87025378 Neighboring gene predicted gene, 52909 Neighboring gene DNA segment, Chr 6, ERATO Doi 527, expressed

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Muscle-specific lack of Gfpt1 triggers ER stress to alleviate misfolded protein accumulation. Zhang R, et al. Dis Model Mech, 2024 Aug 1. PMID 38903011, Free PMC Article
    2. A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ). Holland SH, et al. Biomolecules, 2024 Oct 3. PMID 39456185, Free PMC Article
    3. Splicing regulation of GFPT1 muscle-specific isoform and its roles in glucose metabolisms and neuromuscular junction. Farshadyeganeh P, et al. iScience, 2023 Oct 20. PMID 37744035, Free PMC Article
    4. Transgenic mice with increased hexosamine flux specifically targeted to beta-cells exhibit hyperinsulinemia and peripheral insulin resistance. Tang J, et al. Diabetes, 2000 Sep. PMID 10969833
    5. Adipocytes with increased hexosamine flux exhibit insulin resistance, increased glucose uptake, and increased synthesis and storage of lipid. McClain DA, et al. Am J Physiol Endocrinol Metab, 2005 May. PMID 15613679

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRdelta).
      Title: A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ).
    2. Muscle-specific lack of Gfpt1 triggers ER stress to alleviate misfolded protein accumulation.
      Title: Muscle-specific lack of Gfpt1 triggers ER stress to alleviate misfolded protein accumulation.
    3. The Gfpt1tm1d/tm1d model allows for further investigation of pathophysiological consequences on genes and pathways downstream of GFPT1 likely to involve misglycosylation or hypoglycosylation of neuromuscular junction and muscle targets.
      Title: GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.
    4. mTORC2 responds to glutamine catabolite levels to modulate the hexosamine biosynthesis enzyme GFAT1, and is essential for proper expression and nuclear accumulation of the GFAT1 transcriptional regulator, Xbp1s.
      Title: mTORC2 Responds to Glutamine Catabolite Levels to Modulate the Hexosamine Biosynthesis Enzyme GFAT1.
    5. GFAT-1 plays a critical role in modulating adipogenesis
      Title: Suppression of Glutamine:fructose-6-phosphate amidotransferase-1 inhibits adipogenesis in 3T3-L1 adipocytes.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (3) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables amino acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables carbohydrate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables carbohydrate derivative binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables glutamine-fructose-6-phosphate transaminase (isomerizing) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glutamine-fructose-6-phosphate transaminase (isomerizing) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables glutamine-fructose-6-phosphate transaminase (isomerizing) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in UDP-N-acetylglucosamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in UDP-N-acetylglucosamine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in UDP-N-acetylglucosamine biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in UDP-N-acetylglucosamine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in UDP-N-acetylglucosamine metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in circadian regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fructose 6-phosphate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fructose 6-phosphate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fructose 6-phosphate metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glucosamine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of glycogen biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
    Names
    D-fructose-6-phosphate amidotransferase 1
    GFAT 1
    glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1
    glutamine:fructose-6-phosphate amidotransferase 1
    hexosephosphate aminotransferase 1
    NP_038556.1
    XP_036021735.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_013528.3 → NP_038556.1  glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1

      Status: VALIDATED

      Source sequence(s)
      AC162465, AK019852, BB664274, CN664418
      Consensus CDS
      CCDS39545.1
      UniProtKB/Swiss-Prot
      P47856, Q91XG9, Q99LP7, Q99MJ4
      Related
      ENSMUSP00000109288.2, ENSMUST00000113658.8
      Conserved Domains (4) summary
      PLN02981
      Location:1 → 681
      PLN02981; glucosamine:fructose-6-phosphate aminotransferase
      cd00714
      Location:2 → 284
      GFAT; Glutamine amidotransferases class-II (Gn-AT)_GFAT-type. This domain is found at the N-terminus of glucosamine-6P synthase (GlmS, or GFAT in humans). The glutaminase domain catalyzes amide nitrogen transfer from glutamine to the appropriate substrate. In ...
      cd05008
      Location:368 → 493
      SIS_GlmS_GlmD_1; SIS (Sugar ISomerase) domain repeat 1 found in Glucosamine 6-phosphate synthase (GlmS) and Glucosamine-6-phosphate deaminase (GlmD). The SIS domain is found in many phosphosugar isomerases and phosphosugar binding proteins. GlmS contains a N-terminal ...
      cd05009
      Location:525 → 679
      SIS_GlmS_GlmD_2; SIS (Sugar ISomerase) domain repeat 2 found in Glucosamine 6-phosphate synthase (GlmS) and Glucosamine-6-phosphate deaminase (GlmD). The SIS domain is found in many phosphosugar isomerases and phosphosugar binding proteins. GlmS contains a N-terminal ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      87019828..87069189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036165842.1 → XP_036021735.1  glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform X1

      UniProtKB/Swiss-Prot
      P47856, Q91XG9, Q99LP7, Q99MJ4
      Conserved Domains (1) summary
      PLN02981
      Location:17 → 695
      PLN02981; glucosamine:fructose-6-phosphate aminotransferase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P47856.3 GenPept UniProtKB/Swiss-Prot:P47856

    Gene LinkOut

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