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
213102732011Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.42
179416472007Identification of a novel serine phosphorylation site in human glutamine:fructose-6-phosphate amidotransferase isoform 1.23
155957392004Molecular therapeutic target for type-2 diabetes.20
191707652009AMP-activated protein kinase phosphorylates glutamine : fructose-6-phosphate amidotransferase 1 at Ser243 to modulate its enzymatic activity.20
280081352017GFAT1 phosphorylation by AMPK promotes VEGF-induced angiogenesis.18
275700732016mTORC2 Responds to Glutamine Catabolite Levels to Modulate the Hexosamine Biosynthesis Enzyme GFAT1.17
219755072012Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.16
208454772011Glucose metabolism gene polymorphisms and clinical outcome in pancreatic cancer.15
267152762016Altered glycometabolism affects both clinical features and prognosis of triple-negative and neoadjuvant chemotherapy-treated breast cancer.14
279960482016High expression of GFAT1 predicts poor prognosis in patients with pancreatic cancer.11

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/gfpt1