GFPT1 (glutamine--fructose-6-phosphate transaminase 1)

2017-04-01  

Identity

HGNC
GFPT1
LOCATION
2p13.3
LOCUSID
2673
ALIAS
CMS12,CMSTA1,GFA,GFAT,GFAT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2673
MIM: 138292
HGNC: 4241
Ensembl: ENSG00000198380

Variants:

dbSNP: 2673
ClinVar: 2673
TCGA: ENSG00000198380
COSMIC: GFPT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198380ENST00000357308Q06210
ENSG00000198380ENST00000361060Q06210

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Amino sugar and nucleotide sugar metabolismKEGGko00520
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Synthesis of UDP-N-acetyl-glucosamineREACTOMER-HSA-446210
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038
Insulin resistanceKEGGhsa04931

References

Pubmed IDYearTitleCitations
387321032024Overexpression of Fatty Acid Synthase Upregulates Glutamine-Fructose-6-Phosphate Transaminase 1 and O-Linked N-Acetylglucosamine Transferase to Increase O-GlcNAc Protein Glycosylation and Promote Colorectal Cancer Growth.0
387321032024Overexpression of Fatty Acid Synthase Upregulates Glutamine-Fructose-6-Phosphate Transaminase 1 and O-Linked N-Acetylglucosamine Transferase to Increase O-GlcNAc Protein Glycosylation and Promote Colorectal Cancer Growth.0
349783872022Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.4
356949322022GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.1
360409142022GFPT1 promotes the proliferation of cervical cancer via regulating the ubiquitination and degradation of PTEN.5
349783872022Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.4
356949322022GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.1
360409142022GFPT1 promotes the proliferation of cervical cancer via regulating the ubiquitination and degradation of PTEN.5
335178992021High GFPT1 expression predicts unfavorable outcomes in patients with resectable pancreatic ductal adenocarcinoma.5
342707132021Inhibition of GFAT1 in lung cancer cells destabilizes PD-L1 protein.8
347358732021Cardiomyocyte protein O-GlcNAcylation is regulated by GFAT1 not GFAT2.9
335178992021High GFPT1 expression predicts unfavorable outcomes in patients with resectable pancreatic ductal adenocarcinoma.5
342707132021Inhibition of GFAT1 in lung cancer cells destabilizes PD-L1 protein.8
347358732021Cardiomyocyte protein O-GlcNAcylation is regulated by GFAT1 not GFAT2.9
320199262020Loss of GFAT-1 feedback regulation activates the hexosamine pathway that modulates protein homeostasis.23

Citation

Dessen P

GFPT1 (glutamine--fructose-6-phosphate transaminase 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56861/case-report-explorer/favicon/manifest.json