Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase Proteins (GNE)

The protein encoded by GNE is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Additionally we are shipping GNE Antibodies (73) and GNE Kits (3) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
GNE 10020 Q9Y223
GNE 50798 Q91WG8
GNE 114711 O35826
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Top GNE Proteins at antibodies-online.com

Showing 5 out of 6 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
Insect Cells Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 70 Days
$13,741.67
Details
Insect Cells Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 70 Days
$13,741.67
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HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Log in to see 11 Days
$888.80
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Wheat germ Human GST tag 10 μg Log in to see 11 to 12 Days
$414.29
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Yeast Rat His tag   1 mg Log in to see 60 to 71 Days
$4,108.50
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GNE Proteins by Origin and Source

Origin Expressed in Conjugate
Human , ,
, ,
Mouse (Murine)

Rat (Rattus)

More Proteins for Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase (GNE) Interaction Partners

Zebrafish Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase (GNE) interaction partners

  1. The results demonstrate a critical novel role for gne in embryonic development and particularly in myofiber development, muscle integrity and activity.

Human Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase (GNE) interaction partners

  1. tetrameric structure of sialic acid-synthesizing UDP-GlcNAc 2-epimerase from Acinetobacter baumannii

  2. Two most common mutations including c.2179G>A(p.V727M) and c.1853T>C(p.I618T) were detected in majority of tested GNE myopathy cases. c.920T>G(p.F207C) and c.1664C>T(p.A555V) were next common variants detected. Total of 4 novel variants were identified including c.95T>C(p.M32T), c.490_491dupAT, c.920T>G(p.F307C) and c.1822C>A(p.P608T). Rajsthani people share this gene with the founder mutation of Roma.

  3. The differential proteome profile of HEK293 cells overexpressing pathologically relevant recombinant mutant GNE protein (D207V and V603L) was analyzed. Significant reduction in mRNA and protein levels of PrdxIV was observed in GNE mutant cell lines compared with vector control. The ER redox state was significantly affected due to reduced normal GNE enzyme activity.

  4. Thirty-five different mutations in the GNE gene were recorded in a cohort of GNE-myopathy patients from the Indian subcontinent. p.Val727Met is likely to be a founder mutation of Indian subcontinent.

  5. This study showed thatsSeven patients out of 20 were found to have disease-causing mutations in genes associated with inclusion body myopathy genes allowing for inclusion body myopathy in the differential diagnosis or associated with unexpected diagnosis.

  6. the interaction between GNE and alpha-actinin 1 and alpha-actinin 2 occur at different sites in the alpha-actinin molecules and that for alpha-actinin 2 the interaction site is located at the C-terminus of the protein.

  7. the half-life of the M743T variant is two times longer than for the wild-type GNE protein. This study provides that the balance of phosphorylation and O-GlcNAcylation is decisive involved in efficiency and regulation of GNE.

  8. The results of this study widen the spectra of mutations to copy number variations encompassing 5'UTR, underscoring the pivotal role of the hGNE1 transcript in GNE myopathy.

  9. the complex crystal structure of the N-terminal epimerase part of human GNE shows a tetramer in which UDP binds to the active site and CMP-Neu5Ac binds to the dimer-dimer interface.

  10. This study confirms that c.2228T>C (p.M743T) is the most prevalent disease-causing variant in the non-Jewish Persian population, but other GNE variants can cause GNE myopathy in this population.

  11. examined the consequences of the mutated GNEM743T enzyme in myoblasts cultures, depicted by the pattern of central signaling proteins of the PI3K/AKT, BCL2 and ARTS/XIAP pathways

  12. Novel GNE mutations were linked to GNE myopathy in patients from mainland China.

  13. GNE is a master regulator of sialic acid synthesis in the vertebrates. (Review)

  14. mutation in UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase (GNE) affects beta1-integrin-mediated cell adhesion process in GNE mutant cells

  15. GNE myopathy is an autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single protein with key enzymatic activities--{REVIEW}

  16. Multiple GNE mutations are associated with GNE myopathy.

  17. NCBI GenBank accession numbers for the two major isoforms hGNE1 and hGNE2 and their ENSEMBL IDs, as well as discussion of nomenclature changes

  18. In two Jewish Iranian unrelated families with hereditary inclusion body myopathy, 6 patients were found homozygous for the c.2135 T>C (p.M712T) mutation in exon 12 of GNE.

  19. the prevalence of GNE p.M712T and hereditary inclusion body myopathy is higher in the Sangesar population, comprised mostly of Muslim and Bahai descendants, compared with the general world population

  20. we report the mutation profile of the GNE gene in 212 Japanese GNE myopathy patients, which is the largest single-ethnic cohort for this ultra-orphan disease

Mouse (Murine) Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase (GNE) interaction partners

  1. GNE is a master regulator of sialic acid synthesis in the vertebrates. (Review)

  2. Analysis of differential Gne transcript expression of the two splice variants, Gne1 and Gne2.

  3. GNE is strongly involved in cardiac tissue and skeletal muscle early survival and organization.

  4. Our findings suggest that GNE expression is induced when myofibers are damaged or regenerating, and that GNE plays a role in muscle regeneration.

  5. These data therefore suggest a role of GNE1 in basic supply of cells with sialic acids, whereas splice variants GNE2 and GNE3 may have a function in fine-tuning of the sialic acid pathway.

  6. sialic acid biosynthesis is involved in proliferation and expression of GNE

  7. inactivation of the UDP-GlcNAc 2-epimerase by gene targeting causes early embryonic lethality in mice, thereby emphasizing the fundamental role of this bifunctional enzyme and sialylation during development

  8. compared the amount of membrane-bound sialic acids of wildtype mice with those of heterozygous GNE-deficient mice

  9. Mutations in the Gne enzyme, which encode the rate-limiting enzyme in sialic acid biosynthesis, are causative of distal myopathies with rimmed vacuoles or hereditary inclusion body myopathy.

GNE Protein Profile

Protein Summary

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.

Gene names and symbols associated with GNE

  • glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE)
  • glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (gne)
  • glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (Gne)
  • 2310066H07Rik protein
  • DMRV protein
  • GLCNE protein
  • GNE protein
  • IBM2 protein
  • MGC145505 protein
  • NM protein
  • Uae1 protein
  • zgc:77657 protein

Protein level used designations for GNE

UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase , bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase , glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase , bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase-like , N-acylmannosamine kinase , UDP-GlcNAc-2-epimerase/ManAc kinase , UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase , UDP-N-acetylglucosamine-2-epimerase/N- acetylmannosamine kinase

GENE ID SPECIES
641344 Sus scrofa
393857 Danio rerio
427285 Gallus gallus
465094 Pan troglodytes
481607 Canis lupus familiaris
693525 Macaca mulatta
780185 Xenopus (Silurana) tropicalis
782201 Bos taurus
100171416 Pongo abelii
100340455 Oryctolagus cuniculus
100414213 Callithrix jacchus
100481169 Ailuropoda melanoleuca
100541275 Meleagris gallopavo
100554566 Anolis carolinensis
100589824 Nomascus leucogenys
10020 Homo sapiens
50798 Mus musculus
114711 Rattus norvegicus
100689450 Cricetulus griseus
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