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

    Gene ID: 2673, updated on 8-Aug-2016
    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 HPRD:00702; MIM:138292; Vega:OTTHUMG00000152666
    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]
    Orthologs
    Location:
    2p13
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (69319769..69387254, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (69546901..69614386, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene anthrax toxin receptor 1 Neighboring gene RNA, U6 small nuclear 1216, pseudogene Neighboring gene golgi reassembly stacking protein 2, 55kDa pseudogene Neighboring gene NFU1 iron-sulfur cluster scaffold Neighboring gene AP2 associated kinase 1 Neighboring gene RNA, 7SL, cytoplasmic 604, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    amino acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    glutamine-fructose-6-phosphate transaminase (isomerizing) activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    IRE1-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
     
    UDP-N-acetylglucosamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    UDP-N-acetylglucosamine biosynthetic process TAS
    Traceable Author Statement
    more info
     
    UDP-N-acetylglucosamine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    circadian regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    energy reserve metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    fructose 6-phosphate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glucosamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    glutamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of glycogen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    protein homotetramerization IEA
    Inferred from Electronic Annotation
    more info
     
    response to sucrose IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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_001244710.1NP_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 it encodes the longer protein (isoform 1).
      Source sequence(s)
      AC114772, AF334737, BI560595, DB133199, M90516
      Consensus CDS
      CCDS58713.1
      UniProtKB/Swiss-Prot
      Q06210
      Related
      ENSP00000349860, ENST00000357308
      Conserved Domains (4) summary
      PLN02981
      Location:1699
      PLN02981; glucosamine:fructose-6-phosphate aminotransferase
      cd00714
      Location:2302
      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:386511
      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:543697
      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 ...
    2. NM_002056.3NP_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/Swiss-Prot
      Q06210
      Related
      ENSP00000354347, OTTHUMP00000202179, ENST00000361060, OTTHUMT00000327274
      Conserved Domains (4) summary
      PLN02981
      Location:1681
      PLN02981; glucosamine:fructose-6-phosphate aminotransferase
      cd00714
      Location:2284
      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:368493
      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:525679
      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: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      69319769..69387254 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003801.1XP_016859290.1  

    2. XM_017003802.1XP_016859291.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      69476230..69543772 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)