Rabbit anti-Human, Mouse GNE Polyclonal Antibody | anti-GNE antibody

GNE, CT (GNE, GLCNE, Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, UDP-GlcNAc-2-epimerase/ManAc kinase, UDP-N-acetylglucosamine 2-epimerase, UDP-GlcNAc-2-epimerase, Uridine diphosphate-N-acetylglucosamine-2-epimerase, N-acet

Cat. Num. AAA6303030

• Gene Names: GNE; NM; DMRV; IBM2; Uae1; GLCNE
• Reactivity: Human, Mouse
• Applications: Western Blot, Flow Cytometry, Functional Assay
• Purity: Purified by Protein A and Peptide Affinity Chromatography.
• Synonyms: GNE; Polyclonal Antibody; CT (GNE; GLCNE; Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; UDP-GlcNAc-2-epimerase/ManAc kinase; UDP-N-acetylglucosamine 2-epimerase; UDP-GlcNAc-2-epimerase; Uridine diphosphate-N-acetylglucosamine-2-epimerase; N-acet; N-acetylmannosamine kinase; ManAc kinase; anti-GNE antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human GNE. Species Crossreactivity: mouse
• Purity/Purification: Purified by Protein A and Peptide Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Allophycocyanin (APC).

• Applicable Applications for anti-GNE antibody: Western Blot (WB), Flow Cytometry (FC/FACS), FLISA
• Application Notes: Applications are based on unconjugated antibody.
• Immunogen: KLH-conjugated synthetic peptide mapping to a fragment of residues within amino acids 580-607 in the C-terminal region of human GNE. Swiss/UniProt Accession: Q9Y223. Species sequence homology: hamster, rat
• Conjugate: APC
• Note: Preservative Free
• Special Handling: Light sensitive
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: APC conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(Western Blot analysis in mouse kidney tissue lysates (35ug/lane) using MBS646788. This demonstrates that MBS646788 detected GNE protein (arrow).)

Flow Cytometry (FC/FACS)

(Flow Cytometric analysis of Jurkat cells using MBS646788 (right histogram) compared to a negative control cell (left histogram). FITC-conjugated goat-anti-rabbit secondary antibodies were used for the analysis.)

Related Product Information for anti-GNE antibody

GNE is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells.

Product Categories/Family for anti-GNE antibody

Antibodies; Protein Kinases

References

1. Reinke, S.O., et al. Glycoconj. J. 26(4):415-422(2009). 2. Tong, Y., et al. PLoS ONE 4 (10), E7165 (2009). 3. Klootwijk, R.D., et al. FASEB J. 22(11):3846-3852(2008).

NCBI and Uniprot Product Information

• NCBI GI #: 4885285
• NCBI GeneID: 10020
• NCBI Accession #: NP_005467.1
• NCBI GenBank Nucleotide #: NM_005476.5
• UniProt Accession #: Q9Y223; Q0VA94; A6PZH2; A6PZH3; A7UNU7; B2R6E1; B7Z372; B7Z428; D3DRP7; F5H499; H0YFA7
• Molecular Weight: 66,784 Da
• NCBI Official Full Name: bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 2
• NCBI Official Synonym Full Names: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
• NCBI Official Symbol: GNE
• NCBI Official Synonym Symbols: NM; DMRV; IBM2; Uae1; GLCNE
• NCBI Protein Information: bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; N-acylmannosamine kinase; UDP-GlcNAc-2-epimerase/ManAc kinase; UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase
• UniProt Protein Name: Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
• Protein Family: Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
• UniProt Gene Name: GNE
• UniProt Synonym Gene Names: GLCNE
• UniProt Entry Name: GLCNE_HUMAN

NCBI Description

The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Uniprot Description

GNE: Regulates and initiates biosynthesis of N- acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development. Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells. Defects in GNE are a cause of sialuria (SIALURIA); also known as sialuria French type. In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant. Defects in GNE are the cause of inclusion body myopathy type 2 (IBM2). Hereditary inclusion body myopathies are a group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM2 is an autosomal recessive disorder affecting mainly leg muscles, but with an unusual distribution that spares the quadriceps as also observed in Nonaka myopathy. Defects in GNE are the cause of Nonaka myopathy (NM); also known as distal myopathy with rimmed vacuoles (DMRV). NM is an autosomal recessive muscular disorder, allelic to inclusion body myopathy 2. It is characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood, and sparing of the quadriceps muscles. As the inclusion body myopathy, NM is histologically characterized by the presence of numerous rimmed vacuoles without inflammatory changes in muscle specimens. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.7.1.60; Motility/polarity/chemotaxis; EC 3.2.1.183; Cytoskeletal; Kinase, other; Cell adhesion; Carbohydrate Metabolism - amino sugar and nucleotide sugar; Isomerase

Chromosomal Location of Human Ortholog: 9p13.3

Cellular Component: cytoplasm; cytosol

Molecular Function: metal ion binding; UDP-N-acetylglucosamine 2-epimerase activity; ATP binding; N-acylmannosamine kinase activity; hydrolase activity, hydrolyzing O-glycosyl compounds

Biological Process: UDP-N-acetylglucosamine metabolic process; N-acetylglucosamine biosynthetic process; cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; carbohydrate phosphorylation; protein amino acid N-linked glycosylation via asparagine; cell adhesion; post-translational protein modification; N-acetylneuraminate metabolic process

Disease: Inclusion Body Myopathy 2, Autosomal Recessive; Nonaka Myopathy; Sialuria