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Description for Protein GNE

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
4 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.7.1.60; 5.1.3.14
KEGG - Orthology:
K12409
KEGG - Pathway(s):
hsa00520; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
N-acetylmannosamine kinase; GLCNE
Approved Symbol:
GNE
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 2
Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Inclusion body myopathy, autosomal recessive(Pd);
  • Nonaka myopathy(Pd);
  • Sialuria(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04825 Entrez Gene ID: 10020 OMIM ID: 603824 Swissprot Accession: Q9Y223; A6PZH2;