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    Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [ Mus musculus (house mouse) ]

    Gene ID: 50798, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Gneprovided by MGI
    Official Full Name
    glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinaseprovided by MGI
    Primary source
    MGI:MGI:1354951
    See related
    Ensembl:ENSMUSG00000028479 AllianceGenome:MGI:1354951
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    NM; DMRV; IBM2; Uae1; GLCNE; 2310066H07Rik
    Summary
    Enables N-acylmannosamine kinase activity and UDP-N-acetylglucosamine 2-epimerase activity. Involved in N-acetylneuraminate biosynthetic process. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and respiratory system. Human ortholog(s) of this gene implicated in GNE myopathy; sialuria; and thrombocytopenia. Orthologous to human GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in colon adult (RPKM 40.8), genital fat pad adult (RPKM 9.1) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gne in Genome Data Viewer
    Location:
    4 B1; 4 23.1 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (44034075..44084177, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (44034075..44084177, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene calicin Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:44025298-44025528 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:44035322-44035529 Neighboring gene clathrin light chain A Neighboring gene STARR-seq mESC enhancer starr_10067 Neighboring gene STARR-positive B cell enhancer ABC_E7965 Neighboring gene prothymosin alpha, pseudogene 2 Neighboring gene STARR-positive B cell enhancer ABC_E10233 Neighboring gene ring finger protein 38 Neighboring gene STARR-positive B cell enhancer mm9_chr4:44186052-44186353 Neighboring gene STARR-positive B cell enhancer mm9_chr4:44212798-44213099 Neighboring gene microRNA 5106

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy. Cho A, et al. Hum Mol Genet, 2017 Aug 15. PMID 28505249, Free PMC Article
    2. GNE is involved in the early development of skeletal and cardiac muscle. Milman Krentsis I, et al. PLoS One, 2011. PMID 21731727, Free PMC Article
    3. Protein kinase C phosphorylates and regulates UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase. Horstkorte R, et al. FEBS Lett, 2000 Mar 31. PMID 10745088
    4. Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice. Ito M, et al. PLoS One, 2012. PMID 22253810, Free PMC Article
    5. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. Galeano B, et al. J Clin Invest, 2007 Jun. PMID 17549255, Free PMC Article

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment.
      Title: Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment.
    2. GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation.
      Title: GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation.
    3. Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.
      Title: Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.
    4. Uridine diphosphate-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase deletion in mice leads to lethal intracerebral hemorrhage during embryonic development.
      Title: Uridine diphosphate-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase deletion in mice leads to lethal intracerebral hemorrhage during embryonic development.
    5. Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches.
      Title: Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches.
    6. GNE is a master regulator of sialic acid synthesis in the vertebrates. (Review)
      Title: UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.
    7. Analysis of differential Gne transcript expression of the two splice variants, Gne1 and Gne2.
      Title: Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.
    8. GNE is strongly involved in cardiac tissue and skeletal muscle early survival and organization.
      Title: GNE is involved in the early development of skeletal and cardiac muscle.
    9. Our findings suggest that GNE expression is induced when myofibers are damaged or regenerating, and that GNE plays a role in muscle regeneration.
      Title: Induction of GNE in myofibers after muscle injury.
    10. These data therefore suggest a role of GNE1 in basic supply of cells with sialic acids, whereas splice variants GNE2 and GNE3 may have a function in fine-tuning of the sialic acid pathway.
      Title: Biochemical characterization of human and murine isoforms of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE).
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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 MGI

    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables N-acylmannosamine kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables N-acylmannosamine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables UDP-N-acetylglucosamine 2-epimerase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables catalytic activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    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
    		  
    Process Evidence Code Pubs
    involved_in N-acetylglucosamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in N-acetylneuraminate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in N-acetylneuraminate biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within N-acetylneuraminate metabolic 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 
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    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_001177343.1
    NP_001344468.1
    NP_056643.3
    XP_006538136.1
    XP_030109515.1

    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_001190414.2 → NP_001177343.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 1

      See identical proteins and their annotated locations for NP_001177343.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) contains a different 5' terminal exon compared to transcript variant 1, which results in translation initiation from an in-frame downstream start codon. The resulting protein (isoform 1) has a shorter N-terminus compared to isoform 2. This variant has been called GNE1 in the scientific literature.
      Source sequence(s)
      AK033507, AK136573, AL732563, BB856323, BY036706, BY310771
      Consensus CDS
      CCDS51170.1
      UniProtKB/Swiss-Prot
      Q8CC83, Q8CCB0, Q91WG8, Q9Z0P6
      UniProtKB/TrEMBL
      G3UX23, Q3TCI8
      Related
      ENSMUSP00000100000.3, ENSMUST00000102936.9
      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

    2. NM_001357539.1 → NP_001344468.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AK033507, AK136573, AL732563, BB856323, BY036706, BY310771
      Conserved Domains (2) summary
      COG1940
      Location:205 → 518
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      cl27436
      Location:8 → 170
      Epimerase_2; UDP-N-acetylglucosamine 2-epimerase

    3. NM_015828.3 → NP_056643.3  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 2

      See identical proteins and their annotated locations for NP_056643.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes the longest protein (isoform 2). This variant has been called GNE2 in the scientific literature.
      Source sequence(s)
      AK033507, AK136573, CF755618
      Consensus CDS
      CCDS18120.2
      UniProtKB/TrEMBL
      G3UX23, Q3UW64
      Related
      ENSMUSP00000030201.8, ENSMUST00000030201.14
      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 → 700
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      44034075..44084177 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538073.5 → XP_006538136.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X1

      UniProtKB/TrEMBL
      G3UX23
      Conserved Domains (2) summary
      COG1940
      Location:434 → 747
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      cl39071
      Location:36 → 399
      WecB; UDP-N-acetylglucosamine 2-epimerase [Cell wall/membrane/envelope biogenesis]

    2. XM_030253655.2 → XP_030109515.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X2

      UniProtKB/TrEMBL
      G3UX23
      Conserved Domains (2) summary
      COG1940
      Location:350 → 663
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      cl39071
      Location:2 → 315
      WecB; UDP-N-acetylglucosamine 2-epimerase [Cell wall/membrane/envelope biogenesis]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91WG8.1 GenPept UniProtKB/Swiss-Prot:Q91WG8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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