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Comments and Description Text from UniProtKB
ID:GLCNE_HUMAN DESCRIPTION: RecName: Full=Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; AltName: Full=UDP-GlcNAc-2-epimerase/ManAc kinase; Includes: RecName: Full=UDP-N-acetylglucosamine 2-epimerase; EC=5.1.3.14; AltName: Full=UDP-GlcNAc-2-epimerase; AltName: Full=Uridine diphosphate-N-acetylglucosamine-2-epimerase; Includes: RecName: Full=N-acetylmannosamine kinase; EC=2.7.1.60; AltName: Full=ManAc kinase; FUNCTION: Regulates and initiates biosynthesis of N- acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells. CATALYTIC ACTIVITY: UDP-N-acetyl-D-glucosamine = UDP-N-acetyl-D- mannosamine. CATALYTIC ACTIVITY: ATP + N-acyl-D-mannosamine = ADP + N-acyl-D- mannosamine 6-phosphate. ENZYME REGULATION: Allosterically regulated (Probable); feedback inhibited by cytidine monophosphate-N-acetylneuraminic acid (CMP- Neu5Ac), the end product of neuraminic acid biosynthesis. Activity is dependent on oligomerization. The monomer is inactive, whereas the dimer catalyzes only the phosphorylation of N- acetylmannosamine; the hexamer is fully active for both enzyme activities (By similarity). Up-regulated after PKC-dependent phosphorylation. PATHWAY: Amino-sugar metabolism; N-acetylneuraminate biosynthesis. SUBUNIT: Homodimer and homohexamer. SUBCELLULAR LOCATION: Cytoplasm (By similarity). TISSUE SPECIFICITY: Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isoform 2 is expressed mainly in placenta, but also in brain, kidney, liver, lung, pancreas and colon. Isoform 3 is expressed at low level in kidney, liver, placenta and colon. PTM: Phosphorylated by PKC (By similarity). DISEASE: Defects in GNE are a cause of sialuria (SIALURIA) [MIM:269921]; also known as sialuria French type. In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant. DISEASE: Defects in GNE are the cause of inclusion body myopathy type 2 (IBM2) [MIM:600737]. Hereditary inclusion body myopathies are a group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM2 is an autosomal recessive disorder affecting mainly leg muscles, but with an unusual distribution that spares the quadriceps as also observed in Nonaka myopathy. DISEASE: Defects in GNE are the cause of Nonaka myopathy (NM) [MIM:605820]; also known as distal myopathy with rimmed vacuoles (DMRV). NM is an autosomal recessive muscular disorder, allelic to inclusion body myopathy 2. It is characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood, and sparing of the quadriceps muscles. As the inclusion body myopathy, NM is histologically characterized by the presence of numerous rimmed vacuoles without inflammatory changes in muscle specimens. SIMILARITY: In the N-terminal section; belongs to the UDP-N- acetylglucosamine 2-epimerase family. SIMILARITY: In the C-terminal section; belongs to the ROK (NagC/XylR) family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GNE";
ModBase Predicted Comparative 3D Structure on Q9Y223
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Other Names for This Gene
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