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

Gene ID: 50798, updated on 6-Dec-2022

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
Predicted to enable N-acylmannosamine kinase activity and UDP-N-acetylglucosamine 2-epimerase activity. Predicted to be involved in UDP-N-acetylglucosamine metabolic process. Predicted to act upstream of or within N-acetylneuraminate metabolic process. Predicted to be located 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 and sialuria. Orthologous to human GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). [provided by Alliance of Genome Resources, Apr 2022]
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; 4 B1
Exon count:
15
Annotation release Status Assembly Chr Location
109 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 clathrin, light polypeptide (Lca) Neighboring gene prothymosin alpha, pseudogene 2 Neighboring gene ring finger protein 38 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
  • 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. Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches. Crowe KE, et al. J Neuromuscul Dis, 2022. PMID 34511508
  2. Uridine diphosphate-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase deletion in mice leads to lethal intracerebral hemorrhage during embryonic development. Wedekind H, et al. Glycobiology, 2021 Dec 18. PMID 34224569
  3. 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
  4. Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. Chan YM, et al. PLoS One, 2017. PMID 28267778, Free PMC Article
  5. Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice. Yonekawa T, et al. Brain, 2014 Oct. PMID 25062695, Free PMC Article

See all (53) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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).
  8. sialic acid biosynthesis is involved in proliferation and expression of GNE
    Title: Lessons from GNE-deficient embryonic stem cells: sialic acid biosynthesis is involved in proliferation and gene expression.
  9. compared the amount of membrane-bound sialic acids of wildtype mice with those of heterozygous GNE-deficient mice
    Title: Reduced sialylation status in UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)-deficient mice.
  10. Mutations in the Gne enzyme, which encode the rate-limiting enzyme in sialic acid biosynthesis, are causative of distal myopathies with rimmed vacuoles or hereditary inclusion body myopathy.
    Title: Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (3) 

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
 PubMed 
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
 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 IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity, hydrolyzing O-glycosyl compounds IEA
Inferred from Electronic Annotation
more info
  
enables kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
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
  
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within phosphorylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
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
    Q91WG8, Q9Z0P6
    UniProtKB/TrEMBL
    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/Swiss-Prot
    Q91WG8
    UniProtKB/TrEMBL
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    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
    A0A6P5PLC6
    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

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