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Literature summary for 5.1.3.14 extracted from

  • Sparks, S.E.; Ciccone, C.; Lalor, M.; Orvisky, E.; Klootwijk, R.; Savelkoul, P.J.; Dalakas, M.C.; Krasnewich, D.M.; Gahl, W.A.; Huizing, M.
    Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy (2005), Glycobiology, 15, 1102-1110.
    View publication on PubMed
Search for more literature for 5.1.3.14

Protein Variants

Protein Variants Comment Organism
G135V/R246W mutation in patients with hereditary inclusion body myopathy: G135V/R246W (GNE/GNE domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 38% of wild-type, N-acetylmannosamine kinase activity is 72% of wild-type Homo sapiens
M712T/M712T M712T/M712T (MNK/MNK domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 83% of wild-type, N-acetylmannosamine kinase activity is 55% of wild-type Homo sapiens
V216A/A631V V216A/A631V (GNE/MNK domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 48% of wild-type, N-acetylmannosamine kinase activity is 63% of wild-type Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens the bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is a rate-limiting enzyme of sialic acid biosynthesis ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 mutations in patients with hereditary inclusion body myopathy: G135V/R246W (GNE/GNE domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 38% of wild-type, N-acetylmannosamine kinase activity is 72% of wild-type. V216A/A631V (GNE/MNK domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 48% of wild-type, N-acetylmannosamine kinase activity is 63% of wild-type. M712T/M712T (MNK/MNK domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 83% of wild-type, N-acetylmannosamine kinase activity is 55% of wild-type
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information the bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is a rate-limiting enzyme of sialic acid biosynthesis Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
GNE/MNK bifunctional enzyme Homo sapiens
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase bifunctional enzyme Homo sapiens