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Literature summary for 3.2.1.183 extracted from

  • Yardeni, T.; Choekyi, T.; Jacobs, K.; Ciccone, C.; Patzel, K.; Anikster, Y.; Gahl, W.A.; Kurochkina, N.; Huizing, M.
    Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase (2011), Biochemistry, 50, 8914-8925.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.2.1.183

Inhibitors

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/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens Q9Y223 eight isoforms, hGNE1-hGNE8
-

Source Tissue

Source Tissue Comment Organism Textmining
adrenal gland
-
 Homo sapiens
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brain
-
 Homo sapiens
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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
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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 and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
UDP-N-acetyl-alpha-D-glucosamine + H2O
-
 Homo sapiens N-acetyl-D-mannosamine + UDP
-
 ?

Subunits

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

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

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