Cloned (Comment) | Organism |
---|---|
expression of recombinant wild-type and mutant enzymes | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D176V | naturally occuring mutation involved in hereditary inclusion body myopathy, the mutant enzyme shows 83% reduced UDP-N-acetyl alpha-D-glucosamine epimerase activity compared to the wild-type, N-acetyl mannosamine kinase activity is also reduced but to a lesser extent | Homo sapiens |
additional information | endogenous GNE is knocked down in HEK-293 cells using GNE-specific shRNA | Homo sapiens |
V572L | naturally occuring mutation involved in hereditary inclusion body myopathy, the mutant enzyme shows 44% reduced UDP-N-acetyl alpha-D-glucosamine epimerase activity compared to the wild-type, N-acetyl mannosamine kinase activity is laos reduced to a higher extent | Homo sapiens |
Inhibitors | Comment | Organism | Structure |
---|---|---|---|
CMP-sialic acid | feedback inhibition | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
cytosol | - |
Homo sapiens | 5829 | - |
membrane | - |
Homo sapiens | 16020 | - |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
80000 | - |
x * 80000, recombinant wild-type and mutant enzymes, SDS-PAGE | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | bifunctional enzyme UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase consisting of an N-terminal epimerase and a C-terminal kinase domain. The epimerase domain converts UDP-GlcNAc to ManNAc and the kinase domain phosphorylates ManNAc to ManNAc-P | ? | - |
? | |
UDP-N-acetyl-alpha-D-glucosamine + H2O | Homo sapiens | - |
N-acetyl-D-mannosamine + UDP | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
HEK-293 cell | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | bifunctional enzyme UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase consisting of an N-terminal epimerase and a C-terminal kinase domain. The epimerase domain converts UDP-GlcNAc to ManNAc and the kinase domain phosphorylates ManNAc to ManNAc-P | Homo sapiens | ? | - |
? | |
UDP-N-acetyl-alpha-D-glucosamine + H2O | - |
Homo sapiens | N-acetyl-D-mannosamine + UDP | - |
? |
Subunits | Comment | Organism |
---|---|---|
? | x * 80000, recombinant wild-type and mutant enzymes, SDS-PAGE | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
GNE | - |
Homo sapiens |
UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | hereditary inclusion body myopathy (GNE myopathy) is a neuromuscular disorder due to mutation in key sialic acid biosynthetic enzyme gene, GNE, D176V and V572L. Mutation in GNE affects beta1-integrin-mediated cell adhesion process in GNE mutant cells | Homo sapiens |
physiological function | the enzyme is involved in sialic acid synthesis and other cellular functions, it plays a role in beta1-integrin-mediated cell adhesion, overview | Homo sapiens |