GNE (gene)

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GNE
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGNE, DMRV, GLCNE, IBM2, NM, Uae1, glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
External IDsOMIM: 603824 MGI: 1354951 HomoloGene: 3996 GeneCards: GNE
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for GNE
Genomic location for GNE
Band9p13.3Start36,214,441 bp[1]
End36,277,056 bp[1]
RNA expression pattern
PBB GE GNE 205042 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001190414
NM_015828
NM_001357539

RefSeq (protein)

NP_001177343
NP_056643
NP_001344468

Location (UCSC)Chr 9: 36.21 – 36.28 MbChr 4: 44.03 – 44.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is an enzyme that in humans is encoded by the GNE gene.[5][6][7]

The bifunctional enzyme, UDP-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase/N-acetylmannosamine kinase) regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. UDP-GlcNAc 2-epimerase activity is rate-limiting for the biosynthesis of sialic acid and is required for sialylation in hematopoietic cells. The activity of the enzyme can be controlled at the transcriptional level and can affect the sialylation and function of specific cell surface molecules expressed on B cells and myeloid cells. Modification of cell surface molecules with sialic acid 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. Sialuria is a rare inborn error of metabolism characterized by cytoplasmic accumulation and increased urinary excretion of free NeuAc.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000159921 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028479 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Hinderlich S, Stasche R, Zeitler R, Reutter W (Oct 1997). "A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase". J Biol Chem. 272 (39): 24313–8. doi:10.1074/jbc.272.39.24313. PMID 9305887.
  6. ^ Stasche R, Hinderlich S, Weise C, Effertz K, Lucka L, Moormann P, Reutter W (Oct 1997). "A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase". J Biol Chem. 272 (39): 24319–24. doi:10.1074/jbc.272.39.24319. PMID 9305888.
  7. ^ a b "Entrez Gene: GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase".

Further reading[edit]

External links[edit]