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Literature summary for 3.2.1.183 extracted from

  • Yardeni, T.; Jacobs, K.; Niethamer, T.K.; Ciccone, C.; Anikster, Y.; Kurochkina, N.; Gahl, W.A.; Huizing, M.
    Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: secondary structures, expression profiles, and response to ManNAc therapy (2013), Glycoconj. J., 30, 609-618.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.2.1.183

Cloned(Commentary)

Cloned (Comment) Organism
gene Gne1, sequence comparison with the human isozyme Gne1 Mus musculus
gene Gne2, sequence comparison with the human isozyme Gne2 Mus musculus

Protein Variants

Protein Variants Comment Organism
additional information tissues of the knock-in Gne p.M712T mouse model have similar mGne transcript expression levels among genotypes, indicating no effect of the mutation on mRNA expression Mus musculus

Organism

Organism UniProt Comment Textmining
Mus musculus Q3UW64 isozyme mGne2
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Mus musculus Q91WG8 isozyme mGne1
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Mus musculus C57/BL6J Q3UW64 isozyme mGne2
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Mus musculus C57/BL6J Q91WG8 isozyme mGne1
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Source Tissue

Source Tissue Comment Organism Textmining
additional information mGne1 is the ubiquitously expressed, major mouse isoform, isozyme mGne2 encoding transcript is differentially expressed, quantitative real-time PCR isozyme expression analysis Mus musculus
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additional information mGne2 encoding transcript is differentially expressed mGne2. Expression is significantly increased the first 2 days of life, possibly reflecting the high sialic acid demand during this period, quantitative real-time PCR isozyme expression analysis Mus musculus
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Subunits

Subunits Comment Organism
More isozyme Gne2, secondary structure comparison with the human isozyme Gne2, the isozymes differ most in the N-terminal extension of 31 amino acids Mus musculus
More isozyme mGne1, secondary structure comparison with the human isozyme hGne1. The four homologous amino acid changes between mGne1 and hGNE1 are all located in the ManNAc kinase activity encoding domain of Gne; N447S and L523M in an alpha-helix domain, and R481Q and I484V in a coil domain, overview Mus musculus

Synonyms

Synonyms Comment Organism
GNE
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 Mus musculus
UDP-GlcNAc 2-epimerase/ManNAc kinase
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 Mus musculus

Expression

Organism Comment Expression
Mus musculus treatment of knock-in Gne p.M712T mouse model with N-acetylmannosamine, the Gne transcript expression, in particular mGne2, increases significantly, likely resulting in increased Gne enzymatic activities, especially in kidney and skeletal muscle up
Mus musculus treatment of knock-in Gne p.M712T mouse model with N-acetylmannosamine, the Gne transcript expression, in particular mGne2, increases significantly, likely resulting in increased Gne enzymatic activities, especiallyin kidney and skeletal muscle up

General Information

General Information Comment Organism
malfunction GNE myopathy is autosomal recessive inherited and characterized by adult onset, slowly progressive muscle weakness and atrophy Mus musculus
physiological function mGne2 encoding transcript may act as a tissue-specific regulator of sialylation Mus musculus