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    Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 114711, updated on 30-Mar-2024

    Summary

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    Official Symbol
    Gneprovided by RGD
    Official Full Name
    glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinaseprovided by RGD
    Primary source
    RGD:69239
    See related
    Ensembl:ENSRNOG00000014365 AllianceGenome:RGD:69239
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Uae1
    Summary
    Enables N-acylmannosamine kinase activity and UDP-N-acetylglucosamine 2-epimerase activity. Predicted to be involved in N-acetylneuraminate biosynthetic process. Located in cytosol. Human ortholog(s) of this gene implicated in GNE myopathy and sialuria. Orthologous to human GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Liver (RPKM 304.5), Spleen (RPKM 79.3) and 8 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    5q22
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 5 NC_086023.1 (63062953..63103320, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 5 NC_051340.1 (58267189..58307396, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 5 NC_005104.4 (59511738..59553421, complement)

    Chromosome 5 - NC_086023.1Genomic Context describing neighboring genes Neighboring gene calicin Neighboring gene clathrin, light chain A Neighboring gene small ribosomal subunit protein eS12-like Neighboring gene ring finger protein 38

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Biochemical characterization of the M712T-mutation of the UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosaminekinase in hereditary inclusion body myopathy. Weidemann W, et al. Neuromuscul Disord, 2011 Dec. PMID 21873062
    2. The key enzyme of sialic acid biosynthesis (GNE) promotes neurite outgrowth of PC12 cells. Kontou M, et al. Neuroreport, 2008 Aug 6. PMID 18628673
    3. Characterization of ligand binding to the bifunctional key enzyme in the sialic acid biosynthesis by NMR: I. Investigation of the UDP-GlcNAc 2-epimerase functionality. Blume A, et al. J Biol Chem, 2004 Dec 31. PMID 15498764
    4. Domain-specific characteristics of the bifunctional key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. Blume A, et al. Biochem J, 2004 Dec 15. PMID 15330759, Free PMC Article
    5. Genetic dissection of increased urinary albumin excretion in the munich wistar frömter rat. Schulz A, et al. J Am Soc Nephrol, 2002 Nov. PMID 12397040

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Variations in the mRNA expression level of UDP-GlcNAc epimerase/ManNAc kinase and neuraminidase 1 genes in organs of type 2 diabetic animals.
      Title: Variations in the mRNA expression level of UDP-GlcNAc epimerase/ManNAc kinase and neuraminidase 1 genes in organs of type 2 diabetic animals.
    2. M712T mutation of GNE gene does not affect GNE oligomerization but affects the solubility and posttranslational modification of the GNE protein.
      Title: Biochemical characterization of the M712T-mutation of the UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosaminekinase in hereditary inclusion body myopathy.
    3. Data show that overexpression of GNE induces neurite outgrowth in PC12 cells, but does not lead to an increased biosynthesis of sialic acid.
      Title: The key enzyme of sialic acid biosynthesis (GNE) promotes neurite outgrowth of PC12 cells.
    4. UDP-GlcNAc 2-epimerase/ManNAc kinase expression is regulated on the transcriptional level by DNA methylation
      Title: Epigenetically mediated loss of UDP-GlcNAc 2-epimerase/ManNAc kinase expression in hyposialylated cell lines.
    5. analysis of ligand binding to UDP-GlcNAc 2-epimerase by NMR
      Title: Characterization of ligand binding to the bifunctional key enzyme in the sialic acid biosynthesis by NMR: I. Investigation of the UDP-GlcNAc 2-epimerase functionality.
    6. The collapsin response mediator protein 1 and the promyelocytic leukemia zinc finger protein interact with UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE).
      Title: The collapsin response mediator protein 1 (CRMP-1) and the promyelocytic leukemia zinc finger protein (PLZF) bind to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis.
    7. structures required for dimerization are localized within the kinase domain, and a potential trimerization site is possibly located in a region between the two domains
      Title: Domain-specific characteristics of the bifunctional key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.
    8. analysis of oligomeric states of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase by biophysical methods
      Title: Evidence for dynamic interplay of different oligomeric states of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase by biophysical methods.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables N-acylmannosamine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables N-acylmannosamine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables N-acylmannosamine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables N-acylmannosamine kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables UDP-N-acetylglucosamine 2-epimerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-N-acetylglucosamine 2-epimerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables UDP-N-acetylglucosamine 2-epimerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UDP-N-acetylglucosamine 2-epimerase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity, hydrolyzing O-glycosyl compounds IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in N-acetylglucosamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in N-acetylneuraminate biosynthetic process IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in N-acetylneuraminate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in N-acetylneuraminate biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in N-acetylneuraminate biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in UDP-N-acetylglucosamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in carbohydrate phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
    Names
    UDP-GlcNAc-2-epimerase/ManAc kinase
    UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase
    NP_446217.1
    XP_006238068.1
    XP_006238070.1
    XP_006238071.1
    XP_038965053.1
    XP_038965055.1
    XP_063143130.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_053765.3 → NP_446217.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

      See identical proteins and their annotated locations for NP_446217.1

      Status: PROVISIONAL

      Source sequence(s)
      JAXUCZ010000005
      UniProtKB/Swiss-Prot
      O35826
      UniProtKB/TrEMBL
      A0A8I5ZWN3, A6IJ68
      Related
      ENSRNOP00000019532.3, ENSRNOT00000019532.6
      Conserved Domains (2) summary
      COG1940
      Location:409 → 722
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      TIGR03568
      Location:11 → 374
      NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086023.1 Reference GRCr8

      Range
      63062953..63103320 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006238006.5 → XP_006238068.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X1

      See identical proteins and their annotated locations for XP_006238068.1

      UniProtKB/TrEMBL
      A0A0G2K7T2, A0A8I5ZWN3, A6IJ67
      Related
      ENSRNOP00000074334.1
      Conserved Domains (4) summary
      cd03786
      Location:42 → 406
      GT1_UDP-GlcNAc_2-Epimerase; Bacterial members of the UDP-N-Acetylglucosamine (GlcNAc) 2-Epimerase family are known to catalyze the reversible interconversion of UDP-GlcNAc and UDP-N-acetylmannosamine (UDP-ManNAc). The enzyme serves to produce an activated form of ManNAc residues ...
      COG1940
      Location:440 → 753
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      TIGR03568
      Location:42 → 405
      NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing
      cl17037
      Location:441 → 719
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    2. XM_006238008.3 → XP_006238070.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X2

      See identical proteins and their annotated locations for XP_006238070.1

      UniProtKB/Swiss-Prot
      O35826
      UniProtKB/TrEMBL
      A0A8I5ZWN3, A6IJ68
      Related
      ENSRNOP00000083164.1
      Conserved Domains (2) summary
      COG1940
      Location:409 → 722
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      TIGR03568
      Location:11 → 374
      NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing

    3. XM_039109125.2 → XP_038965053.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X2

      UniProtKB/Swiss-Prot
      O35826
      UniProtKB/TrEMBL
      A0A8I5ZWN3, A6IJ68
      Conserved Domains (2) summary
      COG1940
      Location:409 → 722
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      TIGR03568
      Location:11 → 374
      NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing

    4. XM_006238009.5 → XP_006238071.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X2

      See identical proteins and their annotated locations for XP_006238071.1

      UniProtKB/Swiss-Prot
      O35826
      UniProtKB/TrEMBL
      A0A8I5ZWN3, A6IJ68
      Conserved Domains (2) summary
      COG1940
      Location:409 → 722
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      TIGR03568
      Location:11 → 374
      NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing

    5. XM_039109127.2 → XP_038965055.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X2

      UniProtKB/Swiss-Prot
      O35826
      UniProtKB/TrEMBL
      A0A8I5ZWN3, A6IJ68
      Conserved Domains (2) summary
      COG1940
      Location:409 → 722
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      TIGR03568
      Location:11 → 374
      NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing

    6. XM_063287060.1 → XP_063143130.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X3

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O35826.1 GenPept UniProtKB/Swiss-Prot:O35826

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