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Aliases for GFPT1 Gene

Aliases for GFPT1 Gene

  • Glutamine--Fructose-6-Phosphate Transaminase 1 2 3 5
  • 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
  • GFAT1 3 4
  • GFPT 3 4
  • GFAT 3 4
  • Glucosamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 1 3
  • Glutamine-Fructose-6-Phosphate Transaminase 1 2
  • CMSTA1 3
  • GFAT1m 3
  • GFPT1L 3
  • CMS12 3
  • MSLG 3
  • GFA 3

External Ids for GFPT1 Gene

Previous HGNC Symbols for GFPT1 Gene

  • GFPT

Previous GeneCards Identifiers for GFPT1 Gene

  • GC02P069621
  • GC02P069787
  • GC02M069510
  • GC02M069526
  • GC02M069464
  • GC02M069546

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, 12, With Tubular Aggregates and Congenital Myasthenic Syndromes With Glycosylation Defect. Among its related pathways are Glucose / Energy Metabolism and Transport to the Golgi and subsequent modification. 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

Regulatory Elements for GFPT1 Gene

Enhancers for GFPT1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GFPT1 on UCSC Golden Path with GeneCards custom track

Promoters for GFPT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GFPT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GFPT1 Gene

Chromosome:
2
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

Genes around GFPT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GFPT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GFPT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 25 and Lys 48
  • Modification sites at PhosphoSitePlus

Other Protein References for GFPT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families 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 :
  • Contains 1 glutamine amidotransferase type-2 domain.
Domain:
  • Contains 1 glutamine amidotransferase type-2 domain.
  • Contains 2 SIS domains.
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:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with GFPT1: view
genes like me logo Genes that share phenotypes with GFPT1: view

Human Phenotype Ontology for GFPT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GFPT1 Gene

MGI Knock Outs for GFPT1:

Animal Model Products

  • Taconic Biosciences Mouse Models for GFPT1

miRNA for GFPT1 Gene

miRTarBase miRNAs that target GFPT1

No data available for Transcription Factor Targets 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 5
extracellular 5
nucleus 3
cytoskeleton 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GFPT1 Gene

Pathways & Interactions 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.

SIGNOR curated interactions for GFPT1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GFPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006042 glucosamine biosynthetic process IEA --
GO:0006047 UDP-N-acetylglucosamine metabolic process IEA,IBA --
GO:0006048 UDP-N-acetylglucosamine biosynthetic process TAS --
GO:0006112 energy reserve metabolic process TAS 1460020
genes like me logo Genes that share ontologies with GFPT1: view

Drugs & Compounds for GFPT1 Gene

(10) Drugs for GFPT1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Famotidine Approved Pharma Histamine H2-receptor antagonist 57
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist 0
glucosamine 6-phosphate Experimental Pharma 0
L-Glutamic Acid Nutra Full agonist, Agonist 0

(10) Additional Compounds for GFPT1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fructose 6-phosphate
  • D-Fructose 6-phosphate
  • D-Fructose 6-phosphorate
  • D-Fructose 6-phosphoric acid
  • D-Fructose-6-P
  • D-Fructose-6-phosphate
643-13-0
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

Protein differential expression in normal tissues from HIPED for GFPT1 Gene

This gene is overexpressed in Salivary gland (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GFPT1: view

Protein tissue co-expression partners for GFPT1 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia GFPT1 35
  • 99.71 (n)
  • 100 (a)
GFPT1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gfpt1 35
  • 89.82 (n)
  • 98.97 (a)
oppossum
(Monodelphis domestica)
Mammalia GFPT1 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GFPT1 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves GFPT1 35
  • 81.26 (n)
  • 95.42 (a)
GFPT1 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gfpt1 35
  • 77.19 (n)
  • 89.81 (a)
African clawed frog
(Xenopus laevis)
Amphibia gfpt1-prov 35
zebrafish
(Danio rerio)
Actinopterygii gfpt1 35
  • 74.54 (n)
  • 88.86 (a)
CU929036.1 36
  • 84 (a)
OneToMany
gfpt1 36
  • 91 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Gfat1 37
  • 62 (a)
Gfat2 37
  • 65 (a)
Gfat1 36
  • 63 (a)
ManyToMany
Gfat2 36
  • 66 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F07A11.2a 37
  • 56 (a)
F07A11.2b 37
  • 57 (a)
F22B3.4 37
  • 58 (a)
F07A11.2 36
  • 57 (a)
ManyToMany
F22B3.4 36
  • 58 (a)
ManyToMany
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

(1) 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
VAR_065339 Myasthenic syndrome, congenital, 12 (CMS12)
VAR_065340 Myasthenic syndrome, congenital, 12 (CMS12)
VAR_065341 Myasthenic syndrome, congenital, 12 (CMS12)
rs201322234 Myasthenic syndrome, congenital, 12 (CMS12) 69,363,563(+) AGAGC(A/G)CTGGG reference, missense
VAR_065343 Myasthenic syndrome, congenital, 12 (CMS12)

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

Variation tolerance for GFPT1 Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GFPT1 Gene

Human Gene Mutation Database (HGMD)
GFPT1

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

Disorders for GFPT1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for GFPT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and Novoseek

- elite association - COSMIC cancer census association via MalaCards
Search GFPT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GFPT1_HUMAN
  • Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS12 is 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.

Relevant External Links for GFPT1

Genetic Association Database (GAD)
GFPT1
Human Genome Epidemiology (HuGE) Navigator
GFPT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GFPT1
genes like me logo Genes that share disorders with GFPT1: view

No data available for Genatlas for GFPT1 Gene

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 67
  2. Structural analysis of human glutamine:fructose-6-phosphate amidotransferase, a key regulator in type 2 diabetes. (PMID: 19059404) Nakaishi Y. … Komatsu M. (FEBS Lett. 2009) 3 23
  3. AMP-activated protein kinase phosphorylates glutamine : fructose-6-phosphate amidotransferase 1 at Ser243 to modulate its enzymatic activity. (PMID: 19170765) Eguchi S. … Yonezawa K. (Genes Cells 2009) 3 23
  4. Identification of a novel serine phosphorylation site in human glutamine:fructose-6-phosphate amidotransferase isoform 1. (PMID: 17941647) Li Y. … Badet-Denisot M.A. (Biochemistry 2007) 3 23
  5. Effect of +36T>C in intron 1 on the glutamine: fructose-6-phosphate amidotransferase 1 gene and its contribution to type 2 diabetes in different populations. (PMID: 17024311) Kunika K. … Itakura M. (J. Hum. Genet. 2006) 3 23

Products for GFPT1 Gene

Sources for GFPT1 Gene

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