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Literature summary extracted from

  • Voermans, N.C.; Guillard, M.; Doedee, R.; Lammens, M.; Huizing, M.; Padberg, G.W.; Wevers, R.A.; van Engelen, B.G.; Lefeber, D.J.
    Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy (2010), Clin. Neuropathol., 29, 71-77.
    View publication on PubMedView publication on EuropePMC

Protein Variants

EC Number Protein Variants Comment Organism
5.1.3.14 additional information the frame shif mutation 1295delA, leading to a premature stop codon at K432, is involved in hereditary inclusion body myopathy, phenotype, overview Homo sapiens
5.1.3.14 V696M naturally occuring missense mutation G2086A involved in hereditary inclusion body myopathy, phenotype, overview Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
5.1.3.14 cytoplasm
-
 Homo sapiens 5737
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
5.1.3.14 UDP-N-acetyl-D-glucosamine + H2O Homo sapiens
-
 UDP + N-acetylmannosamine
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
5.1.3.14 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
5.1.3.14 skeletal muscle
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
5.1.3.14 additional information GNE is a bifunctional enzyme with UDP-GlcNAc 2-epimerase and ManNAc kinase activities Homo sapiens ?
-
 ?
5.1.3.14 UDP-N-acetyl-D-glucosamine + H2O
-
 Homo sapiens UDP + N-acetylmannosamine
-
 ?

Synonyms

EC Number Synonyms Comment Organism
5.1.3.14 GNE
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
5.1.3.14 malfunction GNE deficiency can lead to hereditary inclusion body myopathy, HIBM, phenotypes, overview Homo sapiens
5.1.3.14 metabolism the enzyme catalyzes the first two steps in the sialic acid biosynthesis, required for sialylation of diverse glycoproteins and glycolipids e.g. in skeletal muscle Homo sapiens