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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
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Genomic context

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See GFPT1 in Genome Data Viewer
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

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