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    GFPT1 glutamine--fructose-6-phosphate transaminase 1 [ Homo sapiens (human) ]

    Gene ID: 2673, updated on 3-Apr-2024

    Summary

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    Official Symbol
    GFPT1provided by HGNC
    Official Full Name
    glutamine--fructose-6-phosphate transaminase 1provided by HGNC
    Primary source
    HGNC:HGNC:4241
    See related
    Ensembl:ENSG00000198380 MIM:138292; AllianceGenome:HGNC:4241
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GFA; GFAT; GFPT; MSLG; CMS12; GFAT1; CMSTA1; GFAT 1; GFAT1m; GFPT1L
    Summary
    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]
    Expression
    Broad expression in thyroid (RPKM 39.4), colon (RPKM 28.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p13.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (69319780..69387227, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (69332145..69399585, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (69546912..69614359, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene golgi reassembly stacking protein 2, 55kDa pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr2:69506926-69507427 Neighboring gene uncharacterized LOC124907821 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:69533245-69533984 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:69537635-69538137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:69614151-69614710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:69618958-69619458 Neighboring gene NFU1 iron-sulfur cluster scaffold Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15971 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:69671824-69672380 Neighboring gene uncharacterized LOC124906020

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. GFPT1 promotes the proliferation of cervical cancer via regulating the ubiquitination and degradation of PTEN. Li D, et al. Carcinogenesis, 2022 Nov 23. PMID 36040914
    2. GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing. Mensch A, et al. J Neuromuscul Dis, 2022. PMID 35694932
    3. Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation. Jiang K, et al. Brain Behav, 2022 Feb. PMID 34978387, Free PMC Article
    4. High GFPT1 expression predicts unfavorable outcomes in patients with resectable pancreatic ductal adenocarcinoma. Gong Y, et al. World J Surg Oncol, 2021 Jan 31. PMID 33517899, Free PMC Article
    5. Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome. Helman G, et al. Neurology, 2019 Feb 5. PMID 30635494

    See all (147) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GFPT1 promotes the proliferation of cervical cancer via regulating the ubiquitination and degradation of PTEN.
      Title: GFPT1 promotes the proliferation of cervical cancer via regulating the ubiquitination and degradation of PTEN.
    2. Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.
      Title: Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.
    3. GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
      Title: GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
    4. Inhibition of GFAT1 in lung cancer cells destabilizes PD-L1 protein.
      Title: Inhibition of GFAT1 in lung cancer cells destabilizes PD-L1 protein.
    5. Cardiomyocyte protein O-GlcNAcylation is regulated by GFAT1 not GFAT2.
      Title: Cardiomyocyte protein O-GlcNAcylation is regulated by GFAT1 not GFAT2.
    6. High GFPT1 expression predicts unfavorable outcomes in patients with resectable pancreatic ductal adenocarcinoma.
      Title: High GFPT1 expression predicts unfavorable outcomes in patients with resectable pancreatic ductal adenocarcinoma.
    7. LncRNA ELFN1-AS1 promotes esophageal cancer progression by up-regulating GFPT1 via sponging miR-183-3p.
      Title: LncRNA ELFN1-AS1 promotes esophageal cancer progression by up-regulating GFPT1 via sponging miR-183-3p.
    8. GFAT1/HBP/O-GlcNAcylation Axis Regulates beta-Catenin Activity to Promote Pancreatic Cancer Aggressiveness.
      Title: GFAT1/HBP/O-GlcNAcylation Axis Regulates β-Catenin Activity to Promote Pancreatic Cancer Aggressiveness.
    9. The longevity-associated G451E of GFAT1 variant shows drastically reduced sensitivity to UDP-GlcNAc inhibition.
      Title: Loss of GFAT-1 feedback regulation activates the hexosamine pathway that modulates protein homeostasis.
    10. GFPT1 variants and defects in other enzymes of this pathway have previously been associated with congenital myasthenia. These findings identify leukoencephalopathy as a previously unrecognized phenotype in GFPT1-related disease and suggest that mitochondrial dysfunction could contribute to this disorder.
      Title: Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Congenital myasthenic syndrome 12
    MedGen: C3552335 OMIM: 610542 GeneReviews: Not available
    		Compare labs
    Congenital myasthenic syndrome 4C
    MedGen: C1837091 OMIM: 608931 GeneReviews: Congenital Myasthenic Syndromes Overview
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 GOA

    Function Evidence Code Pubs
    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 TAS
    Traceable Author Statement
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in UDP-N-acetylglucosamine biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in UDP-N-acetylglucosamine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in circadian regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in energy reserve metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in fructose 6-phosphate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glutamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
    Names
    D-fructose-6-phosphate amidotransferase 1
    glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1
    glutamine:fructose-6-phosphate amidotransferase 1
    hexosephosphate aminotransferase 1
    NP_001231639.1
    NP_002047.2
    XP_016859290.1
    XP_016859291.1
    XP_054197351.1
    XP_054197352.1

    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.

    Genomic

    1. NG_029542.1 RefSeqGene

      Range
      4997..72482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_787

    mRNA and Protein(s)

    1. NM_001244710.2 → NP_001231639.1  glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform 1

      See identical proteins and their annotated locations for NP_001231639.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC114772, AF334737, BI560595, DB133199, M90516
      Consensus CDS
      CCDS58713.1
      UniProtKB/Swiss-Prot
      Q06210, Q53QE6, Q9BXF8
      UniProtKB/TrEMBL
      A0A6I8PTT9
      Related
      ENSP00000349860.4, ENST00000357308.9
      Conserved Domains (1) summary
      cl28298
      Location:1 → 699
      GlmS; Glucosamine 6-phosphate synthetase, contains amidotransferase and phosphosugar isomerase domains [Cell wall/membrane/envelope biogenesis]

    2. NM_002056.4 → NP_002047.2  glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform 2

      See identical proteins and their annotated locations for NP_002047.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AC114772, BI560595, M90516
      Consensus CDS
      CCDS33216.1
      UniProtKB/TrEMBL
      A0A6I8PTT9
      Related
      ENSP00000354347.4, ENST00000361060.5
      Conserved Domains (1) summary
      PLN02981
      Location:1 → 681
      PLN02981; glucosamine:fructose-6-phosphate aminotransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      69319780..69387227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003801.2 → XP_016859290.1  glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform X1

      UniProtKB/TrEMBL
      A0A6I8PTT9

    2. XM_017003802.3 → XP_016859291.1  glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform X2

      UniProtKB/TrEMBL
      A0A6I8PTT9
      Conserved Domains (1) summary
      PLN02981
      Location:28 → 706
      PLN02981; glucosamine:fructose-6-phosphate aminotransferase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      69332145..69399585 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341376.1 → XP_054197351.1  glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform X1

    2. XM_054341377.1 → XP_054197352.1  glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q06210.3 GenPept UniProtKB/Swiss-Prot:Q06210

    Gene LinkOut

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

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