Cloned (Comment) | Organism |
---|---|
gene gne, recombinant expression of N-terminally FLAG3-tagged wild-type and mutant M743T in HEK-293 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
M743T | a naturally occuring GNE myopathy mutant, located at the last exon 13 of the gene | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | analysis of interaction between GNE and alpha-actinin 2, overview. Enzyme GNE shows a much higher affinity for alpha-actinin 2 than to alpha-actinin 1, protein-protein interaction, overview | ? | - |
? | |
UDP-N-acetyl-alpha-D-glucosamine + H2O | Homo sapiens | - |
N-acetyl-D-mannosamine + UDP | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9Y223 | - |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | analysis of interaction between GNE and alpha-actinin 2, overview. Enzyme GNE shows a much higher affinity for alpha-actinin 2 than to alpha-actinin 1, protein-protein interaction, overview | Homo sapiens | ? | - |
? | |
UDP-N-acetyl-alpha-D-glucosamine + H2O | - |
Homo sapiens | N-acetyl-D-mannosamine + UDP | - |
? |
Synonyms | Comment | Organism |
---|---|---|
bifunctional enzyme UDP-Nacetylglucosamine 2-epimerase/N-acetylmannosamine kinase | - |
Homo sapiens |
GNE | - |
Homo sapiens |
UDP-GlcNAc 2-epimerase/ManNAc kinase | - |
Homo sapiens |
UDP-N-acetylglucosamine 2-epimerase/Nacetylmannosamine kinase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | mutation M743T of enzyme GNE leads to GNE myopathy (i.e. hereditary inclusion body myopathy, HIBM), a unique muscle pathophysiology disorder | Homo sapiens |