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Literature summary for 3.2.1.183 extracted from

  • Harazi, A.; Becker-Cohen, M.; Zer, H.; Moshel, O.; Hinderlich, S.; Mitrani-Rosenbaum, S.
    The interaction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) and alpha-actinin 2 is altered in GNE myopathy M743T mutant (2017), Mol. Neurobiol., 54, 2928-2938 .
    View publication on PubMed
Search for more literature for 3.2.1.183

Cloned(Commentary)

Cloned (Comment) Organism
gene gne, recombinant expression of N-terminally FLAG3-tagged wild-type and mutant M743T in HEK-293 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
M743T a naturally occuring GNE myopathy mutant, located at the last exon 13 of the gene Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens analysis of interaction between GNE and alpha-actinin 2, overview. Enzyme GNE shows a much higher affinity for alpha-actinin 2 than to alpha-actinin 1, protein-protein interaction, overview ?
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 ?
UDP-N-acetyl-alpha-D-glucosamine + H2O Homo sapiens
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 N-acetyl-D-mannosamine + UDP
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 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9Y223
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-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information analysis of interaction between GNE and alpha-actinin 2, overview. Enzyme GNE shows a much higher affinity for alpha-actinin 2 than to alpha-actinin 1, protein-protein interaction, overview Homo sapiens ?
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 ?
UDP-N-acetyl-alpha-D-glucosamine + H2O
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 Homo sapiens N-acetyl-D-mannosamine + UDP
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 ?

Synonyms

Synonyms Comment Organism
bifunctional enzyme UDP-Nacetylglucosamine 2-epimerase/N-acetylmannosamine kinase
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 Homo sapiens
GNE
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 Homo sapiens
UDP-GlcNAc 2-epimerase/ManNAc kinase
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 Homo sapiens
UDP-N-acetylglucosamine 2-epimerase/Nacetylmannosamine kinase
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 Homo sapiens

General Information

General Information Comment Organism
malfunction mutation M743T of enzyme GNE leads to GNE myopathy (i.e. hereditary inclusion body myopathy, HIBM), a unique muscle pathophysiology disorder Homo sapiens