GFPT1 Human

Glutamine--Fructose-6-Phosphate Transaminase 1 Human Recombinant

Cat. No.

BT514

Source

Escherichia Coli.

Synonyms

Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1, D-fructose-6-phosphate amidotransferase 1, Glutamine:fructose-6-phosphate amidotransferase 1, GFAT 1, GFAT1, Hexosephosphate aminotransferase 1, GFPT1, GFAT, GFPT, CMSTA1, GFA, GFAT1m, GFPT1L, MSLG, Glutamine--Fructose-6-Phosphate Transaminase 1.

Appearance

Sterile Filtered colorless solution.

Purity

Greater than 95.0% as determined by SDS-PAGE.

Usage

THE BioTek's products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.

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Description

GFPT1 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 391 amino acids (332-699 a.a) and having a molecular mass of 43.7kDa.
GFPT1 is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

Product Specs

Introduction

Glutamine--Fructose-6-Phosphate Transaminase 1 (GFPT1) is a key enzyme in the hexosamine pathway, regulating glucose flux into this pathway. It plays a crucial role in controlling the availability of precursors required for N- and O-linked protein glycosylation. GFPT1 also influences the circadian rhythm by regulating the expression of clock genes like ARNTL/BMAL1 and CRY1.

Description

Recombinant human GFPT1 protein has been produced in E. coli. This non-glycosylated polypeptide chain consists of 391 amino acids (residues 332-699) and has a molecular weight of 43.7 kDa. For purification purposes, a 23 amino acid His-tag is fused to the N-terminus, and proprietary chromatographic techniques are employed.

Physical Appearance

Clear, colorless solution that has been sterilized by filtration.

Formulation

The GFPT1 protein solution has a concentration of 1 mg/ml and is supplied in a buffer containing 20 mM Tris-HCl (pH 8.0), 0.15 M NaCl, 50% glycerol, 2 mM DTT, and 2 mM EDTA.

Stability

For short-term storage (2-4 weeks), the protein solution should be kept at 4°C. For longer storage, it is recommended to freeze the solution at -20°C. Adding a carrier protein such as HSA or BSA (0.1%) is advisable for long-term storage. Repeated freezing and thawing should be avoided.

Purity

Purity of the GFPT1 protein is greater than 95% as determined by SDS-PAGE analysis.

Synonyms

Source

Escherichia Coli.

Amino Acid Sequence

MGSSHHHHHH SSGLVPRGSH MGSQQIMKGN FSSFMQKEIF EQPESVVNTM RGRVNFDDYT VNLGGLKDHI KEIQRCRRLI LIACGTSYHA GVATRQVLEE LTELPVMVEL ASDFLDRNTP VFRDDVCFFL SQSGETADTL MGLRYCKERG ALTVGITNTV GSSISRETDC GVHINAGPEI GVASTKAYTS QFVSLVMFAL MMCDDRISMQ ERRKEIMLGL KRLPDLIKEV LSMDDEIQKL ATELYHQKSV LIMGRGYHYA TCLEGALKIK EITYMHSEGI LAGELKHGPL ALVDKLMPVI MIIMRDHTYA KCQNALQQVV ARQGRPVVIC DKEDTETIKN TKRTIKVPHS VDCLQGILSV IPLQLLAFHL AVLRGYDVDF PRNLAKSVTV E.

Product Science Overview

Introduction

Glutamine–Fructose-6-Phosphate Transaminase 1 (GFPT1), also known as Glucosamine–Fructose-6-Phosphate Aminotransferase 1, is a crucial enzyme in human metabolism. It plays a significant role in the hexosamine biosynthesis pathway (HBP), which is essential for the production of amino sugars and glycosylation of proteins and lipids .

Gene and Protein Structure

The GFPT1 gene is located on chromosome 2p13.3 in humans. This gene encodes a protein that is approximately 730 amino acids long and has a molecular weight of around 79 kDa. The enzyme is a homodimer, meaning it consists of two identical subunits.

Function

GFPT1 is the first and rate-limiting enzyme of the hexosamine biosynthesis pathway. It catalyzes the conversion of fructose-6-phosphate and glutamine to glucosamine-6-phosphate and glutamate. This reaction is crucial as it controls the flux of glucose into the hexosamine pathway, which is vital for the synthesis of UDP-N-acetylglucosamine (UDP-GlcNAc), a key substrate for N- and O-linked glycosylation of proteins.

Biological Significance

The hexosamine biosynthesis pathway, regulated by GFPT1, is essential for various cellular processes, including protein glycosylation, which affects protein folding, stability, and function. Additionally, GFPT1 has been implicated in the regulation of circadian rhythms by influencing the expression of clock genes such as BMAL1 and CRY1.

Clinical Relevance

Mutations in the GFPT1 gene have been associated with congenital myasthenic syndromes (CMS), specifically CMS12 and CMS4C. These are genetic disorders characterized by muscle weakness and fatigue due to defects in neuromuscular transmission. Understanding the role of GFPT1 in these conditions can help in developing targeted therapies.

Recombinant GFPT1

Recombinant GFPT1 is produced using genetic engineering techniques, where the GFPT1 gene is cloned and expressed in suitable host cells, such as bacteria or yeast. This allows for the production of large quantities of the enzyme for research and therapeutic purposes.

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GFPT1 Human

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Product Science Overview

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