GFPT1

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.

GFPT1 Related Areas

Enzyme>>Carbohydrate Metabolism Enzymes>>GFPT1/GFAT

GFPT1 Alternative Names

GFPT1, GFAT, GFAT1, GFA, GFAT1m, GFPT [Homo sapiens]

Gfpt1, GFAT, GFAT1, GFA, GFAT1m, Gfpt, 2810423A18Rik, AI324119, AI449986 [Mus musculus]

Summaries for GFPT1

Entrez Gene summary for GFPT1:

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.

OMIM - description for GFPT1:

The GFPT1 gene encodes an isoform of glutamine:fructose-6-phosphate amidotransferase (GFAT), which catalyzes the transfer of an amino group from glutamine onto fructose-6-phosphate, yielding glucosamine 6-phosphate and glutamate. It is the first and rate-limiting enzyme of the hexosamine biosynthetic pathway. Hexosamine is the obligatory source of essential amino sugars for the synthesis of glycoproteins, glycolipids, and proteoglycans. GFPT1 is a homodimeric cytoplasmic enzyme

Wikipedia summary for GFPT1:

Glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1 is an enzyme that in humans is encoded by the GFPT1 gene.Glutamine-fructose-6-phosphate transaminase 1 is the first and rate-limiting enzyme of the hexosamine pathway. GFAT controls the flux of glucose into the hexosamine pathway and catalyzes the formation of glucosamine 6-phosphate

Human GFPT1 Protein General Information

 

• Protein names: Recommended name: Glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1
• Sequence length: 699 AA.
• Domain: Glutamine amidotransferase Repeat
• Sequence similarities: Contains 1 glutamine amidotransferase type-2 domain. Contains 2 SIS domains.
• Pathway: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate: step 1/1.
• Subunit structure: Homotetramer
• Catalytic activity:

  L-glutamine + D-fructose 6-phosphate = L-glutamate + D-glucosamine 6-phosphate.

• Tissue specificity: Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle.
• Involvement in disease: Defects in GFPT1 are the cause of limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542]. A congenital myasthenic syndrome 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.

General information above from UniProt

Function for GFPT1 Protein

UniProtKB:

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.

Genatlas:

• GFPT1 is involved in regulating the availability of precursors for N and O-linked glycosylation of proteins
• GFPT1 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 (Nakaishi 2009)

Homology for human GFPT1

• homolog to murine Gfpt1

Phenotype Information for GFPT1

• Gene/Locus: GFPT1, GFAT1, GFPT1L, MSLG
• Phenotype: Myasthenia, limb-girdle, with tubular aggregates

Phenotype Information for GFPT1 from OMIM (Online Mendelian Inheritance in Man)