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Literature summary extracted from

  • Noguchi, S.; Keira, Y.; Murayama, K.; Ogawa, M.; Fujita, M.; Kawahara, G.; Oya, Y.; Imazawa, M.; Goto, Y.I.; Hayashi, Y.K.; Nonaka, I.; Nishino, I.
    Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles (2004), J. Biol. Chem., 279, 11402-11407.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.1.60 wild type an mutated proteins expressed as Myc-tag fusion proteins in COS-7 cells Homo sapiens
5.1.3.14 expression of wild-type and mutant enzymes (C13S, H132Q, D176V, D177C, V331A, I472T, G708S, A631V, V572L and A630T) in COS-7 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.1.60 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
5.1.3.14 A630T mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to 70-80% of wild-type activity Homo sapiens
5.1.3.14 C13S mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type Homo sapiens
5.1.3.14 D176V mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type Homo sapiens
5.1.3.14 D177C mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type Homo sapiens
5.1.3.14 D378Y mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type Homo sapiens
5.1.3.14 G708S mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to 50% of wild-type activity Homo sapiens
5.1.3.14 H132Q mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type Homo sapiens
5.1.3.14 I472T mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to 50% of wild-type activity Homo sapiens
5.1.3.14 V331A mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type Homo sapiens
5.1.3.14 V572L mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to 70-80% of wild-type activity 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, reduced activity causes distal myopathy with rimmed vacuoles ADP + N-acyl-D-mannosamine 6-phosphate
-
 ?
5.1.3.14 UDP-N-acetyl-D-glucosamine Homo sapiens reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles UDP-N-acetyl-D-mannosamine
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.7.1.60 Homo sapiens
-
 Japanese patients with distal myopathy with rimmed vacuoles
-
5.1.3.14 Homo sapiens
-
-
-

Purification (Commentary)

EC Number Purification (Comment) Organism
2.7.1.60 recombinant proteins using Myc-tag 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, reduced activity causes distal myopathy with rimmed vacuoles Homo sapiens ADP + N-acyl-D-mannosamine 6-phosphate
-
 ?
5.1.3.14 UDP-N-acetyl-D-glucosamine
-
 Homo sapiens UDP-N-acetyl-D-mannosamine
-
 ?
5.1.3.14 UDP-N-acetyl-D-glucosamine reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles Homo sapiens UDP-N-acetyl-D-mannosamine
-
 ?

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