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Literature summary extracted from

  • Hinderlich, S.; Salama, I.; Eisenberg, I.; Potikha, T.; Mantey, L.R.; Yarema, K.J.; Horstkorte, R.; Argov, Z.; Sadeh, M.; Reutter, W.; Mitrani-Rosenbaum, S.
    The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy (2004), FEBS Lett., 566, 105-109.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.1.60 expression as His-tag fusion protein in Sf9 cells Homo sapiens
5.1.3.14 expression of M712T mutant enzyme in Sf9 insect cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.1.60 M712T naturally occurring mutation, 30% loss of kinase activity Homo sapiens
5.1.3.14 M712T the homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy Homo sapiens

Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
2.7.1.60 80000
-
 6 * 80000, SDS-PAGE Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.7.1.60 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
-
 ?
5.1.3.14 additional information Homo sapiens the homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.7.1.60 Homo sapiens Q9Y223 hereditary inclusion body myopathy patients carrying M712T mutation and healthy donors
-
5.1.3.14 Homo sapiens Q9Y223
-
-

Purification (Commentary)

EC Number Purification (Comment) Organism
2.7.1.60 recombinant proteins using His-tag Homo sapiens
5.1.3.14
-
 Homo sapiens

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.7.1.60 Fanconi anemia lymphoid cell line
-
 Homo sapiens
-

Storage Stability

EC Number Storage Stability Organism
2.7.1.60 4°C, stable for several days Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.1.60 ATP + N-acyl-D-mannosamine
-
 Homo sapiens ADP + N-acyl-D-mannosamine 6-phosphate
-
 ?
2.7.1.60 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
-
 ?
5.1.3.14 additional information the homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy Homo sapiens ?
-
 ?
5.1.3.14 UDP-N-acetyl-D-glucosamine
-
 Homo sapiens UDP-N-acetyl-D-mannosamine
-
 ?

Subunits

EC Number Subunits Comment Organism
2.7.1.60 hexamer 6 * 80000, SDS-PAGE Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
2.7.1.60 UDP-GlcNAc 2-epimerase/ManNAc kinase
-
 Homo sapiens
2.7.1.60 UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase two different enzyme activities combined in a single bifunctional enzyme Homo sapiens
5.1.3.14 UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
-
 Homo sapiens