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

Gene ID: 2673, updated on 10-Nov-2018

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; 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]
Expression
Broad expression in thyroid (RPKM 39.4), colon (RPKM 28.0) and 25 other tissues See more
Orthologs

Genomic context

See GFPT1 in Genome Data Viewer
Location:
2p13.3
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 ANTXR cell adhesion molecule 1 Neighboring gene RNA, U6 small nuclear 1216, pseudogene Neighboring gene golgi reassembly stacking protein 2, 55kDa pseudogene Neighboring gene uncharacterized protein FLJ45252 Neighboring gene NFU1 iron-sulfur cluster scaffold Neighboring gene AP2 associated kinase 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate derivative binding IEA
Inferred from Electronic Annotation
more info
 
glutamine-fructose-6-phosphate transaminase (isomerizing) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
protein N-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
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

NCBI Reference Sequences (RefSeq)

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
    ENSP00000349860.4, ENST00000357308.8
    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_002056.3NP_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
    ENSP00000354347.4, OTTHUMP00000202179, ENST00000361060.5, OTTHUMT00000327274
    Conserved Domains (1) summary
    cl28298
    Location:1681
    GlmS; Glucosamine 6-phosphate synthetase, contains amidotransferase and phosphosugar isomerase domains [Cell wall/membrane/envelope biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

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

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

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