Cloned (Comment) | Organism |
---|---|
expression as His-tag fusion protein in Sf9 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
M712T | naturally occurring mutation, 30% loss of kinase activity | Homo sapiens |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
80000 | - |
6 * 80000, SDS-PAGE | 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, mutations in the enzyme causes hereditary inclusion body myopathy | ADP + N-acyl-D-mannosamine 6-phosphate | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9Y223 | hereditary inclusion body myopathy patients carrying M712T mutation and healthy donors | - |
Purification (Comment) | Organism |
---|---|
recombinant proteins using His-tag | Homo sapiens |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
Fanconi anemia lymphoid cell line | - |
Homo sapiens | - |
Storage Stability | Organism |
---|---|
4°C, stable for several days | 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, mutations in the enzyme causes hereditary inclusion body myopathy | Homo sapiens | ADP + N-acyl-D-mannosamine 6-phosphate | - |
? |
Subunits | Comment | Organism |
---|---|---|
hexamer | 6 * 80000, SDS-PAGE | Homo sapiens |
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 |