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    gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [ Danio rerio (zebrafish) ]

    Gene ID: 393857, updated on 9-Dec-2024

    Summary

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    Official Symbol
    gneprovided by ZNC
    Official Full Name
    glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinaseprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-040426-1848
    See related
    Ensembl:ENSDARG00000099771 AllianceGenome:ZFIN:ZDB-GENE-040426-1848
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    zgc:77657
    Summary
    Enables UDP-N-acetylglucosamine 2-epimerase activity. Acts upstream of or within chordate embryonic development; locomotion; and muscle cell development. Is expressed in digestive system; muscle; nervous system; and somite border. 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, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See gne in Genome Data Viewer
    Location:
    chromosome: 1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 1 NC_007112.7 (12295168..12334540)
    105 previous assembly GRCz10 (GCF_000002035.5) 1 NC_007112.6 (11608458..11647740)

    Chromosome 1 - NC_007112.7Genomic Context describing neighboring genes Neighboring gene tropomodulin 1 Neighboring gene complexin 2a Neighboring gene N-acetylneuraminic acid synthase a Neighboring gene clathrin, light chain A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Gne depletion during zebrafish development impairs skeletal muscle structure and function. Daya A, et al. Hum Mol Genet, 2014 Jul 1. PMID 24488768
    2. Generation and characterization of a novel gne Knockout Model in Zebrafish. Livne H, et al. Front Cell Dev Biol, 2022. PMID 36353515, Free PMC Article
    3. Rmrp Mutation Disrupts Chondrogenesis and Bone Ossification in Zebrafish Model of Cartilage-Hair Hypoplasia via Enhanced Wnt/β-Catenin Signaling. Sun X, et al. J Bone Miner Res, 2019 Nov. PMID 31237961
    4. Gene Characterization of Nocturnin Paralogues in Goldfish: Full Coding Sequences, Structure, Phylogeny and Tissue Expression. Madera D, et al. Int J Mol Sci, 2023 Dec 19. PMID 38203224, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC77657

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables N-acylmannosamine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    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 hydrolase activity, hydrolyzing O-glycosyl compounds IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase activity 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 UDP-N-acetylglucosamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within chordate embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within locomotion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
    NP_957177.2
    XP_068070496.1
    XP_068070512.1
    XP_068070519.1

    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_200883.2 → NP_957177.2  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

      Status: VALIDATED

      Source sequence(s)
      CR388406, CU915769
      UniProtKB/TrEMBL
      Q6P3K2
      Related
      ENSDARP00000137331.1, ENSDART00000158595.2

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007112.7 Reference GRCz11 Primary Assembly

      Range
      12295168..12334540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_068214418.1 → XP_068070519.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X3

      UniProtKB/TrEMBL
      Q6P3K2

    2. XM_068214395.1 → XP_068070496.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X1

      UniProtKB/TrEMBL
      Q6P3K2

    3. XM_068214411.1 → XP_068070512.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X2

      UniProtKB/TrEMBL
      Q6P3K2
      Related
      ENSDARP00000133094.2, ENSDART00000164045.2
    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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