bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; UDP-GlcNAc-2-epimerase/manAc kinase; includes: UDP-N-acetylglucosamine 2-epimerase; UDP-GlcNAc-2-epimerase; uridine diphosphate-N-acetylglucosamine-2-epimerase; N-acetylmannosamine kinase; manAc kinase (GNE, GLCNE)

Function: 1) biosynthesis of N-acetylneuraminic acid 2) role in early development 3) sialylation in hematopoietic cells 4) allosterically regulated: (feedback inhibition) 5) inhibited by cytidine monophosphate-N-acetylneuraminic acid, end product of neuraminic acid biosynthesis 6) phosphorylated by PKC Structure: - oligomerization - monomer is inactive - dimer catalyzes only phosphorylation of N-acetylmannosamine - hexamer fully active for both enzyme activities Expression: - expressed in liver, placenta > heart, brain, lung, kidney, skeletal muscle, pancreas - up-regulated after PKC-dependent phosphorylation. Pathology: - defects in GNE are the cause of: a) sialuria b) inclusion body myopathy 2 c) Nonaka distal myopathy

General

epimerase kinase or ATP-phosphotransferase oligomerizing protein

Properties

SIZE: entity length = 722 aa MW = 79 kD COMPARTMENT: cytoplasm MOTIF: UDP-N-acetylglucosamine 2-epimerase {1} active site N-acetylmannosamine kinase {406-722} MOTIF: ATP-binding site NAME: ATP-binding site SITE: 411-418 ATP-binding site NAME: ATP-binding site SITE: 545-552

Database Correlations

OMIM correlations MORBIDMAP 603824 UniProt Q9Y223 PFAM correlations Entrez Gene 10020 KEGG correlations ENZYME correlations

References

UniProt :accession Q9Y223