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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
  • 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 Aminotransferase [Isomerizing] 1 3
  • Glutamine-Fructose-6-Phosphate Transaminase 1 2
  • EC 4
  • 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 Myasthenic Syndrome, Congenital, 12 and Congenital Myasthenic Syndromes With Glycosylation Defect. Among its related pathways are Metabolism of proteins and Circadian rythm related genes. Gene Ontology (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

Additional gene information for GFPT1 Gene

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

Genomics for GFPT1 Gene

GeneHancer (GH) Regulatory Elements for GFPT1 Gene

Promoters and enhancers for GFPT1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J069385 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 660.5 +0.6 584 3.6 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 GFPT1 TIA1 PCBP1-AS1 ANXA4 ANTXR1 NFU1 GC02M069348
GH02J069400 Promoter 0.5 EPDnew 650.4 -13.3 -13278 0.1 GFPT1 NFU1
GH02J069435 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.3 -50.0 -50007 3.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B NFU1 GFPT1 PCBP1-AS1 GMCL1 AAK1
GH02J069305 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.7 +78.7 78652 5.9 HDGF ARID4B SIN3A ZNF2 ZBTB7B ZNF143 ZHX2 REST SSRP1 MIER3 TIA1 GMCL1 PCBP1-AS1 GFPT1 ANTXR1 RNA5SP96 RNU6-1216P GKN2 PIR40340 LOC100421347
GH02J069641 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.1 -256.9 -256921 6.3 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 AAK1 ANXA4 TIA1 PCBP1-AS1 MXD1 SNRNP27 GFPT1 GC02P069577
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GFPT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GFPT1 gene promoter:
  • PPAR-alpha
  • YY1
  • Arnt
  • AhR
  • Egr-2
  • Egr-4
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • SRF (504 AA)

Genomic Locations for GFPT1 Gene

Genomic Locations for GFPT1 Gene
67,486 bases
Minus strand
67,478 bases
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:
    Recommended name:
    Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
    Protein Accession:
    Secondary Accessions:
    • Q53QE6
    • Q9BXF8

    Protein attributes for GFPT1 Gene

    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


neXtProt entry for GFPT1 Gene

Post-translational modifications for GFPT1 Gene

  • Ubiquitination at isoforms=248 and isoforms=225
  • Modification sites at PhosphoSitePlus

Other Protein References for GFPT1 Gene

No data available for DME Specific Peptides for GFPT1 Gene

Domains & Families for GFPT1 Gene

Gene Families for GFPT1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for GFPT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for GFPT1 Gene

Function for GFPT1 Gene

Molecular function for GFPT1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
L-glutamine + D-fructose 6-phosphate = L-glutamate + D-glucosamine 6-phosphate.
GENATLAS Biochemistry:

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 TAS --
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
GO:0097367 carbohydrate derivative 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:
  • Gfpt1 Gfpt1<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for GFPT1

CRISPR Products

miRNA for GFPT1 Gene

miRTarBase miRNAs that target GFPT1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFPT1

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for GFPT1 Gene

Localization for GFPT1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GFPT1 gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3
cytoskeleton 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GFPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 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 & 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:0006002 fructose 6-phosphate metabolic process TAS 8144040
GO:0006047 UDP-N-acetylglucosamine metabolic process IBA --
GO:0006048 UDP-N-acetylglucosamine biosynthetic process TAS --
GO:0006112 energy reserve metabolic process TAS 1460020
GO:0006487 protein N-linked glycosylation IBA --
genes like me logo Genes that share ontologies with GFPT1: view

Drugs & Compounds for GFPT1 Gene

(12) 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 64
Glutamic Acid Approved Nutra Full agonist, Agonist 251
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist 0
glucosamine 6-phosphate Experimental Pharma 0

(8) 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-phosphoric acid
  • Fructose-6-phosphate
  • Neuberg ester
  • Fructose 6-phosphoric acid
genes like me logo Genes that share compounds with GFPT1: view

Transcripts for GFPT1 Gene

mRNA/cDNA for GFPT1 Gene

Unigene Clusters for GFPT1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFPT1

Clone Products

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

No ASD Table

Relevant External Links for GFPT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GFPT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GFPT1 Gene

Protein tissue co-expression partners for GFPT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GFPT1 Gene:


SOURCE GeneReport for Unigene cluster for GFPT1 Gene:


mRNA Expression by UniProt/SwissProt for GFPT1 Gene:

Tissue specificity: Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle.

Evidence on tissue expression from TISSUES for GFPT1 Gene

  • Liver(4.6)
  • Nervous system(3.9)
  • Intestine(3.7)
  • Blood(2.9)
  • Muscle(2.8)
  • Heart(2.7)
  • Gall bladder(2.6)
  • Stomach(2.6)
  • Kidney(2.5)
  • Pancreas(2.5)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GFPT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • neck
  • lung
  • rib
  • rib cage
  • kidney
  • pelvis
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns 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
(Pan troglodytes)
Mammalia GFPT1 34 33
  • 99.71 (n)
(Monodelphis domestica)
Mammalia GFPT1 34
  • 97 (a)
(Ornithorhynchus anatinus)
Mammalia GFPT1 34
  • 94 (a)
(Bos Taurus)
Mammalia GFPT1 34 33
  • 92.95 (n)
(Canis familiaris)
Mammalia GFPT1 34 33
  • 91.77 (n)
(Mus musculus)
Mammalia Gfpt1 16 34 33
  • 90.6 (n)
(Rattus norvegicus)
Mammalia Gfpt1 33
  • 89.82 (n)
(Gallus gallus)
Aves GFPT1 34 33
  • 81.26 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gfpt1 33
  • 77.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia gfpt1-prov 33
(Danio rerio)
Actinopterygii CU929036.1 34
  • 84 (a)
gfpt1 34 33
  • 74.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta Gfat2 34 35
  • 66 (a)
Gfat1 34 35
  • 63 (a)
(Caenorhabditis elegans)
Secernentea F22B3.4 34 35
  • 58 (a)
F07A11.2 34
  • 57 (a)
F07A11.2b 35
  • 57 (a)
F07A11.2a 35
  • 56 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GFA1 34
  • 54 (a)
(Oryza sativa)
Liliopsida Os.18609 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 65 (a)
Cin.2377 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2377 33
Species where no ortholog for GFPT1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for GFPT1 (if available)
Gene Tree for GFPT1 (if available)
Evolutionary constrained regions (ECRs) for GFPT1: view image

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 Variation AA Info Type
rs1014659448 uncertain-significance, Congenital Myasthenic Syndrome, Recessive 69,321,428(-) C/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs10185336 benign, Congenital Myasthenic Syndrome, Recessive 69,323,520(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs10198150 benign, Congenital Myasthenic Syndrome, Recessive 69,323,879(-) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs10198171 benign, Congenital Myasthenic Syndrome, Recessive 69,323,920(-) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1024585946 syndrome, congenital, 12 (CMS12) [MIM:610542] 69,329,693(-) G/A coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2720174 CNV deletion 23290073
esv33940 CNV loss 17666407
esv3591182 CNV loss 21293372
nsv1116383 CNV deletion 24896259
nsv834252 CNV loss 17160897
nsv979015 CNV duplication 23825009

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)

Additional Variant Information for GFPT1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for GFPT1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for GFPT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 12
  • cms12
congenital myasthenic syndromes with glycosylation defect
congenital myasthenic syndrome associated with acetylcholine receptor deficiency
  • myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
congenital myasthenic syndrome
  • familial limb-girdle myasthenia
pancreatic steatorrhea
  • pancreatic steatorrhoea
- elite association - COSMIC cancer census association via MalaCards
Search GFPT1 in MalaCards View complete list of genes associated with diseases


  • 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.

Additional Disease Information for GFPT1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 GL … O'Hara PJ (The Journal of biological chemistry 1992) 2 3 4 22 58
  2. Structural analysis of human glutamine:fructose-6-phosphate amidotransferase, a key regulator in type 2 diabetes. (PMID: 19059404) Nakaishi Y … Komatsu M (FEBS letters 2009) 3 4 22 58
  3. 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 (Journal of human genetics 2006) 3 22 44 58
  4. 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 ED (The Journal of clinical endocrinology and metabolism 2005) 3 22 44 58
  5. Scrutiny of the glutamine-fructose-6-phosphate transaminase 1 (GFPT1) locus reveals conserved haplotype block structure not associated with diabetic nephropathy. (PMID: 14988277) Ng DP … Krolewski AS (Diabetes 2004) 3 22 44 58

Products for GFPT1 Gene

Sources for GFPT1 Gene

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