Literature summary for 2.7.1.60 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.

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Cloned(Commentary)

Cloned (Comment)	Organism
wild type an mutated proteins expressed as Myc-tag fusion proteins in COS-7 cells	Homo sapiens

Protein Variants

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/ Products (Substrates)

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

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Japanese patients with distal myopathy with rimmed vacuoles	-

Purification (Commentary)

Purification (Comment)	Organism
recombinant proteins using Myc-tag	Homo sapiens

Substrates and Products (Substrate)

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

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

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Release 2023.1 (January 2023)