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Literature summary for 3.2.1.183 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
Search for more literature for 3.2.1.183

Cloned(Commentary)

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

Protein Variants

Protein Variants Comment Organism
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
additional information endogenous GNE is knocked down in HEK-293 cells using GNE-specific shRNA Homo sapiens
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

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

Localization

Localization Comment Organism GeneOntology No. Textmining
cytosol
-
 Homo sapiens 5829
-
membrane
-
 Homo sapiens 16020
-

Molecular Weight [Da]

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
HEK-293 cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
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 ?
-
 ?
UDP-N-acetyl-alpha-D-glucosamine + H2O
-
 Homo sapiens N-acetyl-D-mannosamine + UDP
-
 ?

Subunits

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

Synonyms

Synonyms Comment Organism
GNE
-
 Homo sapiens
UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase
-
 Homo sapiens

General Information

General Information Comment Organism
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
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