2.7.1.60: N-acylmannosamine kinase
This is an abbreviated version!
For detailed information about N-acylmannosamine kinase, go to the full flat file.
Word Map on EC 2.7.1.60
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2.7.1.60
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sialic
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myopathy
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n-acetylneuraminic
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2.7.1.59
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sialylation
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glycoconjugates
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rimmed
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n-acetylmannosamine-6-phosphate
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n-acetyl-d-glucosamine
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glucokinase
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nanks
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aminosugars
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neu5ac
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medicine
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molecular biology
- 2.7.1.60
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sialic
- myopathy
-
n-acetylneuraminic
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2.7.1.59
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sialylation
- glycoconjugates
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rimmed
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n-acetylmannosamine-6-phosphate
- n-acetyl-d-glucosamine
- glucokinase
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nanks
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aminosugars
- neu5ac
- medicine
- molecular biology
Reaction
Synonyms
acetylamidodeoxymannokinase, acetylmannosamine kinase, acylaminodeoxymannokinase, acylmannosamine kinase, acylmannosamine kinase (phosphorylating), ATP:N-acetylmannosamine 6-phosphotransferase, EC 2.7.1.59/EC 2.7.1.60, EC 5.1.3.14/EC 2.7.1.60, GNE, GNE2, GNE3, ManAc kinase, MNK, N-acetylmannosamine kinase, N-acetylmannosamine-6-phosphate 2-epimerase, N-acyl-D-mannosamine kinase, nanK, UDP-GlcNAc 2-epimerase/ManAc kinase, UDP-GlcNAc 2-epimerase/ManNAc 6-kinase, UDP-GlcNAc 2-epimerase/ManNAc kinase, UDP-GlcNAc-2 epimerase/ManNAc kinase, UDP-GlcNAc-epimerase/ManNAc kinase, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine-kinase, UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase
ECTree
2.7.1.60 N-acylmannosamine kinaseAdvanced search results
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results (Engineering
Engineering on EC 2.7.1.60 - N-acylmannosamine kinase
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PROTEIN VARIANTS 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
A630T
A631V
C13S
D176V
G576R
the mutation is associated with distal myopathy with rimmed vacuoles
M712T
M743T
the mutation, which is associated with GNE myopathy, has a 10fold lower binding affinity to alpha-actinin 2 than the intact enzyme
V572L
D176V
oral administration of the sialic acid precursor N-acetylmannosamine rescues the muscle phenotype in the transgenic Gne p.D176V mouse and partially rescues the glomerular disease and early lethality in the knockin Gne mutant M712T mouse model
M712T
naturally occuring mutation of isozyme mGne2. Tissues of the knock-in Gne p.M712T mouse model has similar mGne transcript expression levels among genotypes, indicating no effect of the mutation on mRNA expression, but the mutant shows increased activity in presence of N-acetylmannosamine compared to the wild-type enzyme. M712T mouse mutants die within 72 h of birth from severe glomerular disease
D176V
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oral administration of the sialic acid precursor N-acetylmannosamine rescues the muscle phenotype in the transgenic Gne p.D176V mouse and partially rescues the glomerular disease and early lethality in the knockin Gne mutant M712T mouse model
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M712T
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naturally occuring mutation of isozyme mGne2. Tissues of the knock-in Gne p.M712T mouse model has similar mGne transcript expression levels among genotypes, indicating no effect of the mutation on mRNA expression, but the mutant shows increased activity in presence of N-acetylmannosamine compared to the wild-type enzyme. M712T mouse mutants die within 72 h of birth from severe glomerular disease
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DELTA1-234
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monomer molecular mass of 58000 Da, complete loss of epimerase activity, 90% loss of kinase activity
DELTA1-359
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monomer molecular mass of 45000 Da, complete loss of epimerase activity, almost complete loss of kinase activity
DELTA1-39
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monomer molecular mass of 79000 Da, complete loss of epimerase activity, 75% loss of kinase activity
DELTA383-722
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monomer molecular mass of 49000 Da, almost complete loss of epimerase activity, complete loss of kinase activity
DELTA490-722
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monomer molecular mass of 61000 Da, more than 80% loss of epimerase activity, complete loss of kinase activity
DELTA597-722
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monomer molecular mass of 72000 Da, almost complete loss of epimerase activity, and kinase activity
DELTA697-722
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monomer molecular mass of 83000 Da, 25% loss of epimerase activity, 60% loss of kinase activity
DELTA717-722
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monomer molecular mass of 85000 Da, less than 10% loss of epimerase activity, 20% loss of kinase activity
Y160A
the mutant has a higher enzyme specificity (kcat/Km) with GlcNAc than for N-acetylmannosamine
Y160F
the mutant has a higher enzyme specificity (kcat/Km) with GlcNAc than for N-acetylmannosamine
Y160A
Staphylococcus aureus PS 47
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the mutant has a higher enzyme specificity (kcat/Km) with GlcNAc than for N-acetylmannosamine
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Y160F
Staphylococcus aureus PS 47
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the mutant has a higher enzyme specificity (kcat/Km) with GlcNAc than for N-acetylmannosamine
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additional information
A630T
homozygous mutant of the N-acetylmannose kinase domain, involved in GNE myopathy
C13S
the mutation is associated with distal myopathy with rimmed vacuoles
D176V
the mutation leads to impaired N-acetylmannosamine kinase activity (40.58% of wild type activity)
M712T
homozygous mutant of the N-acetylmannose kinase domain, involved in GNE myopathy
V572L
homozygous mutant of the N-acetylmannose kinase domain, involved in GNE myopathy
V572L
the mutation leads to impaired N-acetylmannosamine kinase activity (15.9% of wild type activity)
additional information
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different mutations found in patients with distal myopathy with rimmed vacuoles, D378Y, V331A, D177C, D176V, H132Q and C13S in the epimerase domain are mostly without effect on the kinase activity, V572L, A524V, I472T, A630T, A631V, and G708S in the kinase domain some of which causes a dramatic decrease of kinase activity, some of the mutations affects both activities
additional information
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naturally occurring mutations in patients with hereditary inclusion body myopathy, mutations G135V, V216A, R246W, A631V, and M217T identified, mutations severely affect both activities of the bifunctional enzyme
additional information
homozygote and heterozygte mutants of the epimerase and the kinase domains of the enzyme, respectively, overview
additional information
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stable knock-down of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in HEK-293 cells by RNAi dramatically increases incorporation of N-acetylmannosamine analogues into glycoproteins of HEK-293 cells. HEK293 cells transfected with sh68- and sh70-shRNA almost completely loose GNE mRNA expression, while other shRNAs are less effective. Peanut agglutinin, recognizing asialo structures, reveals a 3-4fold higher binding affinity to GNE knock-down cells compared to controls
additional information
the enzyme is silenced or overexpressed in human pancreatic carcinoma cells, gene expression profiling, enzymatic activity, transcriptions levels, and cell cycle analysis, overview
additional information
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the enzyme is silenced or overexpressed in human pancreatic carcinoma cells, gene expression profiling, enzymatic activity, transcriptions levels, and cell cycle analysis, overview
additional information
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heterozygous mice deficient for bifunctional UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase display a organ-specific reduction of membrane-bound sialic acids of about 25%. Transferrin expression is unchanged in heterozygous mice, but the isoelectric point of transferrin is shifted towards basic pH value. The expression of polysialic acids on polysialylated neural cell adhesion molecule is reduced
