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Literature summary extracted from

  • Grover, S.; Arya, R.
    Role of UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase (GNE) in beta1-integrin-mediated cell adhesion (2014), Mol. Neurobiol., 50, 257-273.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
3.2.1.183 expression of recombinant wild-type and mutant enzymes Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.1.60 D176V the mutation leads to impaired N-acetylmannosamine kinase activity (40.58% of wild type activity) Homo sapiens
2.7.1.60 V572L the mutation leads to impaired N-acetylmannosamine kinase activity (15.9% of wild type activity) Homo sapiens
3.2.1.183 D176V naturally occuring mutation involved in hereditary inclusion body myopathy, the mutant enzyme shows 83% reduced UDP-N-acetyl alpha-D-glucosamine epimerase activity compared to the wild-type, N-acetyl mannosamine kinase activity is also reduced but to a lesser extent Homo sapiens
3.2.1.183 additional information endogenous GNE is knocked down in HEK-293 cells using GNE-specific shRNA Homo sapiens
3.2.1.183 V572L naturally occuring mutation involved in hereditary inclusion body myopathy, the mutant enzyme shows 44% reduced UDP-N-acetyl alpha-D-glucosamine epimerase activity compared to the wild-type, N-acetyl mannosamine kinase activity is laos reduced to a higher extent Homo sapiens

Inhibitors

EC Number Inhibitors Comment Organism Structure
3.2.1.183 CMP-sialic acid feedback inhibition Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
2.7.1.60 cytosol
-
 Homo sapiens 5829
-
2.7.1.60 Golgi membrane
-
 Homo sapiens 139
-
2.7.1.60 nucleus
-
 Homo sapiens 5634
-
3.2.1.183 cytosol
-
 Homo sapiens 5829
-
3.2.1.183 membrane
-
 Homo sapiens 16020
-

Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
3.2.1.183 80000
-
 x * 80000, recombinant wild-type and mutant enzymes, SDS-PAGE Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.7.1.60 ATP + N-acyl-D-mannosamine Homo sapiens
-
 ADP + N-acyl-D-mannosamine 6-phosphate
-
 ?
3.2.1.183 additional information Homo sapiens bifunctional enzyme UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase consisting of an N-terminal epimerase and a C-terminal kinase domain. The epimerase domain converts UDP-GlcNAc to ManNAc and the kinase domain phosphorylates ManNAc to ManNAc-P ?
-
 ?
3.2.1.183 UDP-N-acetyl-alpha-D-glucosamine + H2O Homo sapiens
-
 N-acetyl-D-mannosamine + UDP
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.7.1.60 Homo sapiens Q9Y223
-
-
3.2.1.183 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.7.1.60 HEK-293 cell
-
 Homo sapiens
-
3.2.1.183 HEK-293 cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.1.60 ATP + N-acyl-D-mannosamine
-
 Homo sapiens ADP + N-acyl-D-mannosamine 6-phosphate
-
 ?
3.2.1.183 additional information bifunctional enzyme UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase consisting of an N-terminal epimerase and a C-terminal kinase domain. The epimerase domain converts UDP-GlcNAc to ManNAc and the kinase domain phosphorylates ManNAc to ManNAc-P Homo sapiens ?
-
 ?
3.2.1.183 UDP-N-acetyl-alpha-D-glucosamine + H2O
-
 Homo sapiens N-acetyl-D-mannosamine + UDP
-
 ?

Subunits

EC Number Subunits Comment Organism
3.2.1.183 ? x * 80000, recombinant wild-type and mutant enzymes, SDS-PAGE Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
2.7.1.60 GNE
-
 Homo sapiens
2.7.1.60 UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase
-
 Homo sapiens
3.2.1.183 GNE
-
 Homo sapiens
3.2.1.183 UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.7.1.60 malfunction enzyme mutation affects beta1-integrin-mediated cell adhesion process Homo sapiens
3.2.1.183 malfunction hereditary inclusion body myopathy (GNE myopathy) is a neuromuscular disorder due to mutation in key sialic acid biosynthetic enzyme gene, GNE, D176V and V572L. Mutation in GNE affects beta1-integrin-mediated cell adhesion process in GNE mutant cells Homo sapiens
3.2.1.183 physiological function the enzyme is involved in sialic acid synthesis and other cellular functions, it plays a role in beta1-integrin-mediated cell adhesion, overview Homo sapiens