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FLASH GENE

Symbol

GFPT1

contributors: mct/npt/pgu - updated : 02-02-2022

HGNC name	glutamine-fructose-6-phosphate transaminase 1
HGNC id	4241

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMSTA1 congenital myasthenic syndrome with tubular aggregates-1
Location	2p13.3      Physical location : 69.546.904 - 69.614.382
Synonym name	glutamine : fructose-6-phosphate amidotransferase-1
	hexosephosphate aminotransferase 1
	D-fructose-6-phosphate amidotransferase 1
Synonym symbol(s)	CMS12, CMSTA1, GFA, GFAT, GFAT 1, GFPTL, MSLG GFA, GFPT, GFAT1, GFAT1m
EC.number	2.6.1.16

DNA

TYPE	functioning gene
STRUCTURE	67.45 kb     19 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
motif
text structure	multiple transcription start sites
	a novel single nucleotide polymorphism identified at position -1412 (G to C) had a functional effect on promoter activity

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002056 19 - 8611 NP_002047 - 681 - 2007 17941647 NM_001244710 20 - 8665 NP_001231639 - 699 - 2007 17941647

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly   salivary gland       highly Endocrine pancreas       highly Reproductive male system testis     highly Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Connective adipose     highly

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte Nervous astrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one type 2 glutamine amidotransferase domain
	two SIS domains
	C-terminal tail including the active site displays a rigid conformation

mono polymer

homomer , tetramer

HOMOLOGY

interspecies

homolog to murine Gfpt1

Homologene

FAMILY	SIS family
	GFAT subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,intermed filament

basic FUNCTION	involved in regulating the availability of precursors for N and O-linked glycosylation of proteins
	controls the flux of glucose into the hexosamine pathway
	rate-limiting enzyme in the hexoamine biosynthetic pathway and plays an important role in type 2 diabetes
	DPAGT1 and GFPT1 are required for protein glycosylation, which in turn is essential for correct protein folding and targeting
	is a key rate-limiting enzyme in the hexosamine biosynthetic pathway providing building blocks for the glycosylation of proteins and lipids
	likely critical role for muscle derived GFPT1 in the development of the neuromuscular junction (NMJ), neurotransmission, skeletal muscle integrity
	controls the flux of glucose into the hexosamine-biosynthesis pathway that produces precursors for glycosylation of proteins

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

hexosamine biosynthesis pathway

a component

INTERACTION

DNA

RNA

small molecule

protein

GFPT1 phosphorylation by AMPK promotes VEGF-induced angiogenesis

cell & other

REGULATION

Other	phosphorylation at Ser243 by PRKAB1 has an important role in the regulation of its enzymatic activity
	may be regulated by kinases other than PKA
	iron deficiency increased GFPT1 phosphorylation, which is a key enzyme in the glucosamine biosynthesis pathway and a target of 5' AMP-activated protein kinase (AMPK), leading to reduced GFPT1 enzymatic activity and consequently lower global O-GlcNAc modification in neuronal cells

ASSOCIATED DISORDERS

corresponding disease(s)

CMSTA1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in pancreatic cancer samples compared to peri-tumor tissues, and positively associated with lymph node metastasis, pTNM stage and shorter overall survival (OS)

Susceptibility

to insulin resistance of non-insulin dependent diabetes mellitus (minor role) to diabetic nephropathy

Variant & Polymorphism SNP	2 SNP increasing the risk of diabetic nephropathy

Candidate gene
Marker	high GFPT1 expression is identified as an independent predictor of adverse clinical outcome in our small number of pancreatic cancer patients
Therapy target

ANIMAL & CELL MODELS