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- Table of Contents
Facts about Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.
Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells.
Human | |
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Gene Name: | GNE |
Uniprot: | Q9Y223 |
Entrez: | 10020 |
Belongs to: |
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No superfamily |
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; DMRV; GLCNE; GLCNENM; glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; GNE; IBM2; NAcetylmannosamine Kinase; N-Acetylmannosamine Kinase; N-acylmannosamine kinase; Uae1; UDP-GlcNAc-2-epimerase/ManAc kinase; UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase
Mass (kDA):
79.275 kDA
Human | |
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Location: | 9p13.3 |
Sequence: | 9; NC_000009.12 (36214441..36277056, complement) |
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.
Cytoplasm.
PMID: 10431835 by Lucka L., et al. Primary structure and expression analysis of human UDP-N-acetyl- glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis.
PMID: 10330343 by Seppala R., et al. Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.