U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GFPT1 in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (69319780..69387227, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (69332145..69399585, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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_001244710.2NP_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:1699
      GlmS; Glucosamine 6-phosphate synthetase, contains amidotransferase and phosphosugar isomerase domains [Cell wall/membrane/envelope biogenesis]
    2. NM_002056.4NP_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:1681
      PLN02981; glucosamine:fructose-6-phosphate aminotransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_017003801.2XP_016859290.1  glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform X1

      UniProtKB/TrEMBL
      A0A6I8PTT9
    2. XM_017003802.3XP_016859291.1  glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform X2

      UniProtKB/TrEMBL
      A0A6I8PTT9
      Conserved Domains (1) summary
      PLN02981
      Location:28706
      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_054341376.1XP_054197351.1  glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform X1

      UniProtKB/TrEMBL
      A0A6I8PTT9
    2. XM_054341377.1XP_054197352.1  glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform X2

      UniProtKB/TrEMBL
      A0A6I8PTT9