Cloned (Comment) | Organism |
---|---|
wild type an mutated proteins expressed as Myc-tag fusion proteins in COS-7 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | different mutations found in patients with distal myopathy with rimmed vacuoles, D378Y, V331A, D177C, D176V, H132Q and C13S in the epimerase domain are mostly without effect on the kinase activity, V572L, A524V, I472T, A630T, A631V, and G708S in the kinase domain some of which causes a dramatic decrease of kinase activity, some of the mutations affects both activities | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + N-acyl-D-mannosamine | Homo sapiens | key enzyme in the synthesis of N-acetylneuraminic acid and therefore of nearly all other sialic acids, reduced activity causes distal myopathy with rimmed vacuoles | ADP + N-acyl-D-mannosamine 6-phosphate | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
Japanese patients with distal myopathy with rimmed vacuoles | - |
Purification (Comment) | Organism |
---|---|
recombinant proteins using Myc-tag | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + N-acyl-D-mannosamine | - |
Homo sapiens | ADP + N-acyl-D-mannosamine 6-phosphate | - |
? | |
ATP + N-acyl-D-mannosamine | key enzyme in the synthesis of N-acetylneuraminic acid and therefore of nearly all other sialic acids, reduced activity causes distal myopathy with rimmed vacuoles | Homo sapiens | ADP + N-acyl-D-mannosamine 6-phosphate | - |
? |
Synonyms | Comment | Organism |
---|---|---|
UDP-GlcNAc 2-epimerase/ManNAc kinase | - |
Homo sapiens |
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase | two different enzyme activities combined in a single bifunctional enzyme | Homo sapiens |