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

Gene ID: 14583, updated on 21-Apr-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; respiratory 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, Apr 2022]
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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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. Suppression of Glutamine:fructose-6-phosphate amidotransferase-1 inhibits adipogenesis in 3T3-L1 adipocytes. Hsieh TJ, et al. J Cell Physiol, 2012 Jan. PMID 21374590
  2. Hexosamines regulate sensitivity of glucose-stimulated insulin secretion in beta-cells. Cooksey RC, et al. Am J Physiol Endocrinol Metab, 2006 Feb. PMID 16188910
  3. 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
  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. Chronic activation of hexosamine biosynthesis in the heart triggers pathological cardiac remodeling. Tran DH, et al. Nat Commun, 2020 Apr 14. PMID 32286306, Free PMC Article

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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)
  • Targeted (3) 
  • Endonuclease-mediated (4) 

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 ISO
Inferred from Sequence Orthology
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables transaminase activity IEA
Inferred from Electronic Annotation
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in UDP-N-acetylglucosamine biosynthetic process ISO
Inferred from Sequence Orthology
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 carbohydrate derivative biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in carbohydrate derivative metabolic process IEA
Inferred from Electronic Annotation
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in glucosamine biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within glutamine metabolic process IEA
Inferred from Electronic Annotation
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
  
acts_upstream_of_or_within rhythmic process IEA
Inferred from Electronic Annotation
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

    See identical proteins and their annotated locations for NP_038556.1

    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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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