Literature summary for 2.7.1.60 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.

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Cloned(Commentary)

Cloned (Comment)	Organism
expression as His-tag fusion protein in Sf9 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
M712T	naturally occurring mutation, 30% loss of kinase activity	Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da]	Molecular Weight Maximum [Da]	Comment	Organism
80000	-	6 * 80000, SDS-PAGE	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, mutations in the enzyme causes hereditary inclusion body myopathy	ADP + N-acyl-D-mannosamine 6-phosphate	-	?

Organism

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

Purification (Commentary)

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

Source Tissue

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

Storage Stability

Storage Stability	Organism
4°C, stable for several days	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, mutations in the enzyme causes hereditary inclusion body myopathy	Homo sapiens	ADP + N-acyl-D-mannosamine 6-phosphate	-	?

Subunits

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

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)