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Literature summary extracted from
- Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria (2010), Glycobiology, 20, 322-337.
Protein Variants
| EC Number | Protein Variants | Comment | Organism |
|---|---|---|---|
| 5.1.3.14 | C13S | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | C303V | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | C303X | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | D176V | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | D225N | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | D378Y | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | G135V | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | G206S | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | G89R | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | H132Q | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | I200F | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | I241S | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | L379H | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | M171V | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | M29T | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | M712T | the Persian-Jewish HIBM founder mutation is located at the interface alpha4alpha10 of GNE and likely affects GlcNAc, Mg2+, and ATP binding | Homo sapiens |
| 5.1.3.14 | additional information | mutant genotyping, overview. Modeling of effects of GNE/MNK missense mutations associated with HIBM or sialuria on helix arrangement, substrate binding, and enzyme action, overview. All reported mutations are associated with the active sites or secondary structure interfaces of GNE/MNK | Homo sapiens |
| 5.1.3.14 | P27S | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | P283S | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | P36L | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | R11W | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | R129Q | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | R162C | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | R177C | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | R202L | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | R246Q | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | R246W | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | R263L | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | R266Q | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | R266W | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | R277C | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | R306Q | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | R335W | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | V216A | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | V331A | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
| 5.1.3.14 | V367I | a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme | Homo sapiens |
Inhibitors
| EC Number | Inhibitors | Comment | Organism | Structure |
|---|---|---|---|---|
| 5.1.3.14 | CMP-sialic acid | GNE/MNK is feedback inhibited by binding of the downstream product, CMP-sialic acid, in its allosteric site. The allosteric regulation by CMP-sialic acid involves residues D255, E260, R263, R266, K268, and N275 | Homo sapiens |  |
Natural Substrates/ Products (Substrates)
| EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|---|
| 5.1.3.14 | UDP-N-acetyl-D-glucosamine + H2O | Homo sapiens | - |
UDP + N-acetylmannosamine | - |
? | |
Organism
| EC Number | Organism | UniProt | Comment | Textmining |
|---|---|---|---|---|
| 5.1.3.14 | Homo sapiens | Q9Y223 | gene GNE | - |
Substrates and Products (Substrate)
| EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|---|
| 5.1.3.14 | additional information | GNE is a bifunctional enzyme with UDP-GlcNAc 2-epimerase and ManNAc kinase activities | Homo sapiens | ? | - |
? | |
| 5.1.3.14 | UDP-N-acetyl-D-glucosamine + H2O | - |
Homo sapiens | UDP + N-acetylmannosamine | - |
? | |
| 5.1.3.14 | UDP-N-acetyl-D-glucosamine + H2O | epimerase active site amino acid residues D21, G111, H132, G136 and D144 are required for stabilization of the active site structure, residues R19, S301 and E307 are involved in binding of the UDP portion of the substrate. Amino acid residues K24, P27, M29, D112, E134, D143, D144, R147, S302 and R113 are located in vicinity of the active site, while residues G182 and D187 are part of the active site hinge region. The possible general catalyst is residue H220, and residues H45 and H132 are required for 2-epimerase activity | Homo sapiens | UDP + N-acetylmannosamine | - |
? | |
Subunits
| EC Number | Subunits | Comment | Organism |
|---|---|---|---|
| 5.1.3.14 | More | modeling of the active sites of human GNE/MNK using vailable structural data of GNE/MNK homologues, overview | Homo sapiens |
Synonyms
| EC Number | Synonyms | Comment | Organism |
|---|---|---|---|
| 5.1.3.14 | GNE | - |
Homo sapiens |
| 5.1.3.14 | GNE/MNK | - |
Homo sapiens |
| 5.1.3.14 | UDP-GlcNAc 2-epimerase/ManNAc kinase | - |
Homo sapiens |
General Information
| EC Number | General Information | Comment | Organism |
|---|---|---|---|
| 5.1.3.14 | malfunction | GNE mutations can result in two human disorders, hereditary inclusion body myopathy, HIBM, and sialuria | Homo sapiens |
| 5.1.3.14 | metabolism | GNE catalyzes the first two committed, rate-limiting steps in the biosynthesis of N-acetylneuraminic acid, i.e. sialic acid | Homo sapiens |
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