Inhibitors | Comment | Organism | Structure |
---|---|---|---|
CMP-Neu5Ac | feedback-inhibits the UDPGlcNAc 2-epimerase activity of GNE by binding to its allosteric site | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
UDP-N-acetyl-alpha-D-glucosamine + H2O | Homo sapiens | - |
N-acetyl-D-mannosamine + UDP | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9Y223 | eight isoforms, hGNE1-hGNE8 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
adrenal gland | - |
Homo sapiens | - |
brain | - |
Homo sapiens | - |
colon | - |
Homo sapiens | - |
fibroblast | - |
Homo sapiens | - |
heart | - |
Homo sapiens | - |
kidney | - |
Homo sapiens | - |
leukocyte | - |
Homo sapiens | - |
liver | - |
Homo sapiens | - |
lung | - |
Homo sapiens | - |
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 | - |
ovary | - |
Homo sapiens | - |
placenta | - |
Homo sapiens | - |
prostate | - |
Homo sapiens | - |
salivary gland | - |
Homo sapiens | - |
skeletal muscle | - |
Homo sapiens | - |
small intestine | - |
Homo sapiens | - |
spleen | - |
Homo sapiens | - |
testis | - |
Homo sapiens | - |
thymus | - |
Homo sapiens | - |
thyroid gland | - |
Homo sapiens | - |
trachea | - |
Homo sapiens | - |
uterus | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
UDP-N-acetyl-alpha-D-glucosamine + H2O | - |
Homo sapiens | N-acetyl-D-mannosamine + UDP | - |
? |
Subunits | Comment | Organism |
---|---|---|
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 |
Synonyms | Comment | Organism |
---|---|---|
GNE | - |
Homo sapiens |
UDP-GlcNAc 2-epimerase | - |
Homo sapiens |
UDP-GlcNAc 2-epimerase/ManNAc kinase | - |
Homo sapiens |
uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
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 |
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 |
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 |