EC Number | Cloned (Comment) | Organism |
---|---|---|
2.7.1.60 | cloning of isozymes hGNE1-hGNE8, DNA and amino acid sequence determination and analysis, quantitative real-time PCR expression analysis and sequence comparisons | Homo sapiens |
EC Number | Inhibitors | Comment | Organism | Structure |
---|---|---|---|---|
3.2.1.183 | CMP-Neu5Ac | feedback-inhibits the UDPGlcNAc 2-epimerase activity of GNE by binding to its allosteric site | Homo sapiens |
EC Number | Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|---|
2.7.1.60 | cytosol | - |
Homo sapiens | 5829 | - |
EC Number | Metals/Ions | Comment | Organism | Structure |
---|---|---|---|---|
2.7.1.60 | Mg2+ | required | Homo sapiens |
EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
2.7.1.60 | ATP + N-acyl-D-mannosamine | Homo sapiens | - |
ADP + N-acyl-D-mannosamine 6-phosphate | - |
? | |
2.7.1.60 | additional information | Homo sapiens | the enzyme is a bifunctional enzyme uridine diphosphate 1-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, i.e. UDP-GlcNAc 2-epimerase/ManNAc kinase or GNE. The N-terminal domain carries out UDP-GlcNAc epimerase function, whereas the C-terminal domain is responsible for ManNAc kinase activity | ? | - |
? | |
3.2.1.183 | UDP-N-acetyl-alpha-D-glucosamine + H2O | Homo sapiens | - |
N-acetyl-D-mannosamine + UDP | - |
? |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
2.7.1.60 | Homo sapiens | Q9Y223 | eight isozymes hGNE1-hGNE8 from differential splicing | - |
3.2.1.183 | Homo sapiens | Q9Y223 | eight isoforms, hGNE1-hGNE8 | - |
EC Number | Source Tissue | Comment | Organism | Textmining |
---|---|---|---|---|
3.2.1.183 | adrenal gland | - |
Homo sapiens | - |
3.2.1.183 | brain | - |
Homo sapiens | - |
3.2.1.183 | colon | - |
Homo sapiens | - |
3.2.1.183 | fibroblast | - |
Homo sapiens | - |
3.2.1.183 | heart | - |
Homo sapiens | - |
3.2.1.183 | kidney | - |
Homo sapiens | - |
3.2.1.183 | leukocyte | - |
Homo sapiens | - |
3.2.1.183 | liver | - |
Homo sapiens | - |
3.2.1.183 | lung | - |
Homo sapiens | - |
3.2.1.183 | additional information | quantitative real-time PCR.expression and tissue localization analysis of isozymes GNE1-GNE8, isozymes hGNE1 and hGNE6 is localized ubiquitously in all tissues examined | Homo sapiens | - |
3.2.1.183 | ovary | - |
Homo sapiens | - |
3.2.1.183 | placenta | - |
Homo sapiens | - |
3.2.1.183 | prostate | - |
Homo sapiens | - |
3.2.1.183 | salivary gland | - |
Homo sapiens | - |
3.2.1.183 | skeletal muscle | - |
Homo sapiens | - |
3.2.1.183 | small intestine | - |
Homo sapiens | - |
3.2.1.183 | spleen | - |
Homo sapiens | - |
3.2.1.183 | testis | - |
Homo sapiens | - |
3.2.1.183 | thymus | - |
Homo sapiens | - |
3.2.1.183 | thyroid gland | - |
Homo sapiens | - |
3.2.1.183 | trachea | - |
Homo sapiens | - |
3.2.1.183 | uterus | - |
Homo sapiens | - |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
2.7.1.60 | ATP + N-acyl-D-mannosamine | - |
Homo sapiens | ADP + N-acyl-D-mannosamine 6-phosphate | - |
? | |
2.7.1.60 | additional information | the enzyme is a bifunctional enzyme uridine diphosphate 1-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, i.e. UDP-GlcNAc 2-epimerase/ManNAc kinase or GNE. The N-terminal domain carries out UDP-GlcNAc epimerase function, whereas the C-terminal domain is responsible for ManNAc kinase activity | Homo sapiens | ? | - |
? | |
3.2.1.183 | UDP-N-acetyl-alpha-D-glucosamine + H2O | - |
Homo sapiens | N-acetyl-D-mannosamine + UDP | - |
? |
EC Number | Subunits | Comment | Organism |
---|---|---|---|
2.7.1.60 | More | the GNE enzyme consists of two enzymatic domains, sequence comparisons, secondary structures, and modeling of isozymes hGNE1-hGNE8, hGNE2 and hGNE7 display a 31-residue N-terminal extension compared to hGNE1. hGNE3 and hGNE8 contain a 55 residue N-terminal deletion, and a 50-residue N-terminal extension compared to hGNE1 | Homo sapiens |
3.2.1.183 | More | isozyme sequence comparisons, secondary structures, and structure modeling, overview. Isozymes hGNE2 and hGNE7 display a 31-residue N-terminal extension compared to isozyme hGNE1, isozymes hGNE3 and hGNE8 contain a 53-residue N-terminal deletion and a 50-residue N-terminal extension compared to hGNE1 | Homo sapiens |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
2.7.1.60 | GNE | - |
Homo sapiens |
2.7.1.60 | UDP-GlcNAc 2-epimerase/ManNAc kinase | - |
Homo sapiens |
3.2.1.183 | GNE | - |
Homo sapiens |
3.2.1.183 | UDP-GlcNAc 2-epimerase | - |
Homo sapiens |
3.2.1.183 | UDP-GlcNAc 2-epimerase/ManNAc kinase | - |
Homo sapiens |
3.2.1.183 | uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase | - |
Homo sapiens |
EC Number | Cofactor | Comment | Organism | Structure |
---|---|---|---|---|
2.7.1.60 | ATP | - |
Homo sapiens |
EC Number | General Information | Comment | Organism |
---|---|---|---|
2.7.1.60 | malfunction | enzyme mutations can cause sialuria and hereditary inclusion body myopathy. Sialuria patients have a heterozygous missense mutation affecting the allosteric site of GNE, leading to loss of feedback inhibition of GNE-epimerase activity by CMP-Neu5Ac, resulting in excessive sialic acid production. HIBM and its allelic Japanese disorder, distal myopathy with rimmed vacuoles, or DMRV, is an autosomal recessive neuromuscular disorder of adult onset, characterized byslowly progressive muscle weakness and atrophy | Homo sapiens |
2.7.1.60 | metabolism | UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) catalyzes the first two committed steps in sialic acid synthesis | Homo sapiens |
2.7.1.60 | additional information | epimerase enzymatic activity of isozymes GNE3 and GNE8 is likely absent, since the deleted fragment contains important substrate binding residues in homologous bacterial epimerases. Isozymes hGNE5-hGNE8 have a 53-residue deletion, which is assigned a role in substrate(UDP-GlcNAc) binding | Homo sapiens |
3.2.1.183 | malfunction | isozymes hGNE3 and hGNE8 contain a 53-residue N-terminal deletion, epimerase enzymatic activity of isozymes GNE3 and GNE8 is likely absent, because the deleted fragment contains important substrate binding residues in homologous bacterial epimerases. Isozymes hGNE5-hGNE8 have a 53-residue deletion, which was assigned a role in substrate UDP-GlcNAc binding | Homo sapiens |
3.2.1.183 | metabolism | the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, encoded by the GNE gene, catalyzes the first two committed, rate-limiting steps in the biosynthesis of N-acetylneuraminic acid. Two distinct human disorders, sialuria and hereditary inclusion body myopathy, are associated with predominantly missense mutations in GNE | Homo sapiens |
3.2.1.183 | physiological function | UDP-GlcNAc 2-epimerase/ManNAc kinase catalyzes the first two committed steps in sialic acid synthesis. Isozyme hGNE1 is the ubiquitously expressed major isoform, while the isozymes hGNE2-hGNE8 isoforms are differentially expressed and may act as tissue-specific regulators of sialylation | Homo sapiens |