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Aliases for GFPT1 Gene

Aliases for GFPT1 Gene

  • Glutamine--Fructose-6-Phosphate Transaminase 1 2 3
  • GFAT1 3 4 6
  • Glutamine:Fructose-6-Phosphate Amidotransferase 1 3 4
  • D-Fructose-6-Phosphate Amidotransferase 1 3 4
  • Hexosephosphate Aminotransferase 1 3 4
  • EC 2.6.1.16 4 63
  • GFAT 1 3 4
  • CMSTA1 3 6
  • GFPT1L 3 6
  • GFPT 3 4
  • MSLG 3 6
  • GFAT 3 4
  • Glucosamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 1 3
  • Glutamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 1 3
  • Glutamine-Fructose-6-Phosphate Transaminase 1 2
  • GFAT1m 3
  • GFA 3

External Ids for GFPT1 Gene

Previous Symbols for GFPT1 Gene

  • GFPT

Summaries for GFPT1 Gene

Entrez Gene Summary for GFPT1 Gene

  • 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]

GeneCards Summary for GFPT1 Gene

GFPT1 (Glutamine--Fructose-6-Phosphate Transaminase 1) is a Protein Coding gene. Diseases associated with GFPT1 include myasthenia, congenital, with tubular aggregates 1 and myasthenia, limb-girdle, with tubular aggregates. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include carbohydrate binding and glutamine-fructose-6-phosphate transaminase (isomerizing) activity. An important paralog of this gene is GFPT2.

UniProtKB/Swiss-Prot for GFPT1 Gene

  • Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1

Gene Wiki entry for GFPT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GFPT1 Gene

Genomics for GFPT1 Gene

Genomic Location for GFPT1 Gene

Start:
69,319,769 bp from pter
End:
69,387,254 bp from pter
Size:
67,486 bases
Orientation:
Minus strand

Genomic View for GFPT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GFPT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GFPT1 Gene

Regulatory Elements for GFPT1 Gene

Proteins for GFPT1 Gene

  • Protein details for GFPT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06210-GFPT1_HUMAN
    Recommended name:
    Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
    Protein Accession:
    Q06210
    Secondary Accessions:
    • Q53QE6
    • Q9BXF8

    Protein attributes for GFPT1 Gene

    Size:
    699 amino acids
    Molecular mass:
    78806 Da
    Quaternary structure:
    • Homotetramer (Probable), may also exist as homodimers.

    Three dimensional structures from OCA and Proteopedia for GFPT1 Gene

    Alternative splice isoforms for GFPT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GFPT1 Gene

Proteomics data for GFPT1 Gene at MOPED

Post-translational modifications for GFPT1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys25 and Lys48

Other Protein References for GFPT1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for GFPT1 Gene

Suggested Antigen Peptide Sequences for GFPT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q06210

UniProtKB/Swiss-Prot:

GFPT1_HUMAN
Domain:
  • Contains 1 glutamine amidotransferase type-2 domain.:
    • Q06210
  • Contains 2 SIS domains.:
    • Q06210
genes like me logo Genes that share domains with GFPT1: view

No data available for Gene Families for GFPT1 Gene

Function for GFPT1 Gene

Molecular function for GFPT1 Gene

GENATLAS Biochemistry: glutamine
UniProtKB/Swiss-Prot CatalyticActivity: L-glutamine + D-fructose 6-phosphate = L-glutamate + D-glucosamine 6-phosphate
UniProtKB/Swiss-Prot Function: Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1

Enzyme Numbers (IUBMB) for GFPT1 Gene

Gene Ontology (GO) - Molecular Function for GFPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004360 glutamine-fructose-6-phosphate transaminase (isomerizing) activity IEA --
GO:0016597 amino acid binding IEA --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with GFPT1: view

miRNA for GFPT1 Gene

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for GFPT1 Gene

Localization for GFPT1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GFPT1 Gene COMPARTMENTS Subcellular localization image for GFPT1 gene
Compartment Confidence
cytosol 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GFPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with GFPT1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GFPT1 Gene

Pathways for GFPT1 Gene

genes like me logo Genes that share pathways with GFPT1: view

UniProtKB/Swiss-Prot Q06210-GFPT1_HUMAN

  • Pathway: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate: step 1/1

Gene Ontology (GO) - Biological Process for GFPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process --
GO:0006002 fructose 6-phosphate metabolic process IEA --
GO:0006042 glucosamine biosynthetic process IEA --
GO:0006047 UDP-N-acetylglucosamine metabolic process --
GO:0006048 UDP-N-acetylglucosamine biosynthetic process TAS --
genes like me logo Genes that share ontologies with GFPT1: view

Compounds for GFPT1 Gene

(5) HMDB Compounds for GFPT1 Gene

Compound Synonyms Cas Number PubMed IDs
Famotidine
  • Amfamox
76824-35-6
Fructose 6-phosphate
  • D-Fructose 6-phosphate
643-13-0
Glucosamine 6-phosphate
  • 2-Amino-2-deoxy-D-glucose 6-phosphate
3616-42-0
L-Glutamic acid
  • (2S)-2-Aminopentanedioate
56-86-0
L-Glutamine
  • (2S)-2,5-diamino-5-oxopentanoic acid
56-85-9

(16) Novoseek inferred chemical compound relationships for GFPT1 Gene

Compound -log(P) Hits PubMed IDs
hexosamines 89 2
azaserine 86.2 7
glucosamine 6-phosphate 84.6 4
glucosamine 83.9 18
fructose-6-phosphate 81.2 6
genes like me logo Genes that share compounds with GFPT1: view

Transcripts for GFPT1 Gene

Unigene Clusters for GFPT1 Gene

Glutamine--fructose-6-phosphate transaminase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GFPT1 Gene

No ASD Table

Relevant External Links for GFPT1 Gene

GeneLoc Exon Structure for
GFPT1
ECgene alternative splicing isoforms for
GFPT1

Expression for GFPT1 Gene

mRNA expression in normal human tissues for GFPT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GFPT1 Gene

SOURCE GeneReport for Unigene cluster for GFPT1 Gene Hs.580300

mRNA Expression by UniProt/SwissProt for GFPT1 Gene

Q06210-GFPT1_HUMAN
Tissue specificity: Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle.
genes like me logo Genes that share expressions with GFPT1: view

No data available for mRNA differential expression in normal tissues for GFPT1 Gene

Orthologs for GFPT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GFPT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GFPT1 35
  • 99.71 (n)
  • 100 (a)
GFPT1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GFPT1 35
  • 92.95 (n)
  • 99.41 (a)
GFPT1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GFPT1 35
  • 91.77 (n)
  • 97.13 (a)
GFPT1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gfpt1 35
  • 90.6 (n)
  • 99.12 (a)
Gfpt1 16
Gfpt1 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GFPT1 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GFPT1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gfpt1 35
  • 89.82 (n)
  • 98.97 (a)
chicken
(Gallus gallus)
Aves GFPT1 35
  • 81.26 (n)
  • 95.42 (a)
GFPT1 36
  • 95 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia gfpt1-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gfpt1 35
  • 77.19 (n)
  • 89.81 (a)
zebrafish
(Danio rerio)
Actinopterygii CU929036.1 36
  • 84 (a)
OneToMany
gfpt1 35
  • 74.54 (n)
  • 88.86 (a)
gfpt1 36
  • 91 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Gfat1 36
  • 63 (a)
ManyToMany
Gfat2 36
  • 66 (a)
ManyToMany
Gfat2 37
  • 65 (a)
Gfat1 37
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea F07A11.2 36
  • 57 (a)
ManyToMany
F22B3.4 36
  • 58 (a)
ManyToMany
F07A11.2b 37
  • 57 (a)
F07A11.2a 37
  • 56 (a)
F22B3.4 37
  • 58 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GFA1 36
  • 54 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.18609 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2377 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 65 (a)
OneToMany
Species with no ortholog for GFPT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GFPT1 Gene

ENSEMBL:
Gene Tree for GFPT1 (if available)
TreeFam:
Gene Tree for GFPT1 (if available)

Paralogs for GFPT1 Gene

Paralogs for GFPT1 Gene

Selected SIMAP similar genes for GFPT1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GFPT1: view

Variants for GFPT1 Gene

Sequence variations from dbSNP and Humsavar for GFPT1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs2667 -- 69,325,389(-) AAGTG(G/T)TTTTT utr-variant-3-prime
rs7642 -- 69,320,104(-) AGTGT(C/G)GCATC utr-variant-3-prime
rs13751 -- 69,322,130(+) AAAAA(C/T)AAAGT utr-variant-3-prime
rs1044784 -- 69,320,426(-) CTTTG(C/T)ATATT utr-variant-3-prime
rs1044785 -- 69,320,392(-) AGGTC(A/T)TGGAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GFPT1 Gene

Variant ID Type Subtype PubMed ID
esv33940 CNV Loss 17666407
esv2720174 CNV Deletion 23290073
nsv834252 CNV Loss 17160897

Relevant External Links for GFPT1 Gene

HapMap Linkage Disequilibrium report
GFPT1
Human Gene Mutation Database (HGMD)
GFPT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GFPT1 Gene

Disorders for GFPT1 Gene

(1) OMIM Diseases for GFPT1 Gene (138292)

UniProtKB/Swiss-Prot

GFPT1_HUMAN
  • Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]: A congenital myasthenic syndrome characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors. {ECO:0000269 PubMed:21310273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for GFPT1 Gene

(8) Novoseek inferred disease relationships for GFPT1 Gene

Disease -log(P) Hits PubMed IDs
glomerulosclerosis diabetic 63 1
insulin resistance 61 15
diabetic nephropathies 57.9 11
hyperglycemia 35.4 3
insulin sensitivity 29.1 4

Relevant External Links for GFPT1

Genetic Association Database (GAD)
GFPT1
Human Genome Epidemiology (HuGE) Navigator
GFPT1
genes like me logo Genes that share disorders with GFPT1: view

Publications for GFPT1 Gene

  1. Molecular cloning, cDNA sequence, and bacterial expression of human glutamine:fructose-6-phosphate amidotransferase. (PMID: 1460020) McKnight G.L. … O'Hara P.J. (J. Biol. Chem. 1992) 2 3 4 23
  2. A novel variant of glutamine:fructose-6-phosphate amidotransferase-1 (GFAT1) mRNA is selectively expressed in striated muscle. (PMID: 11679416) DeHaven J.E. … Buse M.G. (Diabetes 2001) 3 4 23
  3. Scrutiny of the glutamine-fructose-6-phosphate transaminase 1 (GFPT1) locus reveals conserved haplotype block structure not associated with diabetic nephropathy. (PMID: 14988277) Ng D.P. … Krolewski A.S. (Diabetes 2004) 3 23 48
  4. Molecular screening of the human glutamine-fructose-6-phosphate amidotransferase 1 (GFPT1) gene and association studies with diabetes and diabetic nephropathy. (PMID: 15308130) Elbein S.C. … Zhang Z. (Mol. Genet. Metab. 2004) 3 23 48
  5. The -913 G/A glutamine:fructose-6-phosphate aminotransferase gene polymorphism is associated with measures of obesity and intramyocellular lipid content in nondiabetic subjects. (PMID: 15613432) Weigert C. … Schleicher E.D. (J. Clin. Endocrinol. Metab. 2005) 3 23 48

Products for GFPT1 Gene

Sources for GFPT1 Gene

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