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    GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [ Homo sapiens (human) ]

    Gene ID: 10020, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GNEprovided by HGNC
    Official Full Name
    glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:23657
    See related
    Ensembl:ENSG00000159921 MIM:603824; AllianceGenome:HGNC:23657
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NM; DMRV; IBM2; Uae1; GLCNE; THC12
    Summary
    The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules 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. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in liver (RPKM 23.5), colon (RPKM 22.5) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GNE in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (36214441..36276978, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (36236447..36298980, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (36214438..36276975, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:36190553-36191178 Neighboring gene uncharacterized LOC124902151 Neighboring gene calicin Neighboring gene clathrin light chain A Neighboring gene ReSE screen-validated silencer GRCh37_chr9:36245133-36245303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19891 Neighboring gene uncharacterized LOC124902150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28349 Neighboring gene RNA, U4 small nuclear 53, pseudogene Neighboring gene uncharacterized LOC102724322 Neighboring gene high mobility group box 3 pseudogene 24 Neighboring gene ring finger protein 38 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36391761-36392261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19893 Neighboring gene uncharacterized LOC124902152 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Efficient metabolic oligosaccharide engineering of glycoproteins by UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) knock-down. Möller H, et al. Mol Biosyst, 2011 Jul. PMID 21584309
    2. GNE protein expression and subcellular distribution are unaltered in HIBM. Krause S, et al. Neurology, 2007 Aug 14. PMID 17698786
    3. Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy. Motozaki Y, et al. Eur J Neurol, 2007 Sep. PMID 17718674
    4. Validation of GNE:p.M712T identification by melting curve analysis. Valles-Ayoub Y, et al. Genet Test, 2008 Mar. PMID 18373408
    5. Allele-specific silencing of the dominant disease allele in sialuria by RNA interference. Klootwijk RD, et al. FASEB J, 2008 Nov. PMID 18653764, Free PMC Article

    See all (147) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases.
      Title: A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases.
    2. Altered autophagic flux in GNE mutant cells of Indian origin: Potential drug target for GNE myopathy.
      Title: Altered autophagic flux in GNE mutant cells of Indian origin: Potential drug target for GNE myopathy.
    3. GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?
      Title: GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?
    4. Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies.
      Title: Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies.
    5. Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE).
      Title: Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE).
    6. Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder.
      Title: Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder.
    7. Motor axonal neuropathy associated with GNE mutations.
      Title: Motor axonal neuropathy associated with GNE mutations.
    8. Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in the GNE Gene.
      Title: Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in the GNE Gene.
    9. Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review.
      Title: Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review.
    10. Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype.
      Title: Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype.
    Submit: New GeneRIF Correction See all GeneRIFs (82)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    GNE myopathy
    MedGen: C1853926 OMIM: 605820 GeneReviews: GNE Myopathy
    		Compare labs
    Sialuria
    MedGen: C0342853 OMIM: 269921 GeneReviews: Not available
    		Compare labs
    Thrombocytopenia 12 with or without myopathy
    MedGen: C5935593 OMIM: 620757 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 GOA

    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 TAS
    Traceable Author Statement
    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 TAS
    Traceable Author Statement
    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 CMP-N-acetylneuraminate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 UDP-N-acetylglucosamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in carbohydrate phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
    Names
    N-acylmannosamine kinase
    UDP-GlcNAc-2-epimerase/ManAc kinase
    UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
    NP_001121699.1
    NP_001177312.1
    NP_001177313.1
    NP_001177317.2
    NP_001361726.1
    NP_001361727.1
    NP_005467.1
    XP_005251391.1
    XP_016869656.1
    XP_054217668.1
    XP_054217669.1

    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.

    Genomic

    1. NG_008246.1 RefSeqGene

      Range
      5067..67604
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1197

    mRNA and Protein(s)

    1. NM_001128227.3 → NP_001121699.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 1

      See identical proteins and their annotated locations for NP_001121699.1

      Status: REVIEWED

      Source sequence(s)
      AK312539, AL158830, BF197948, CA503236, DC416534
      Consensus CDS
      CCDS47965.1
      UniProtKB/TrEMBL
      Q6QNY5, Q6QNY6, Q6QNY7
      Related
      ENSP00000379839.3, ENST00000396594.8
      Conserved Domains (2) summary
      COG1940
      Location:440 → 744
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      cl39071
      Location:42 → 405
      WecB; UDP-N-acetylglucosamine 2-epimerase [Cell wall/membrane/envelope biogenesis]

    2. NM_001190383.3 → NP_001177312.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 4

      See identical proteins and their annotated locations for NP_001177312.1

      Status: REVIEWED

      Source sequence(s)
      AL158830, BP201585, CA503236, EU093084
      Consensus CDS
      CCDS55309.1
      UniProtKB/TrEMBL
      Q6QNY5, Q6QNY6, Q6QNY7
      Related
      ENSP00000414760.2, ENST00000447283.6
      Conserved Domains (3) summary
      COG1940
      Location:480 → 639
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      cl17037
      Location:410 → 429
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
      cl27436
      Location:11 → 374
      Epimerase_2; UDP-N-acetylglucosamine 2-epimerase

    3. NM_001190384.3 → NP_001177313.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 5

      See identical proteins and their annotated locations for NP_001177313.1

      Status: REVIEWED

      Source sequence(s)
      AK295562, AL158830, BC121179, BP201585, CA503236
      Consensus CDS
      CCDS55308.1
      UniProtKB/TrEMBL
      Q6QNY7
      Related
      ENSP00000445117.1, ENST00000539208.5
      Conserved Domains (2) summary
      COG1940
      Location:299 → 603
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      cl27436
      Location:2 → 264
      Epimerase_2; UDP-N-acetylglucosamine 2-epimerase

    4. NM_001190388.2 → NP_001177317.2  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL158830
      Consensus CDS
      CCDS55310.2
      UniProtKB/TrEMBL
      A0A7I2SU25, Q6QNY7
      Related
      ENSP00000437765.3, ENST00000543356.7
      Conserved Domains (2) summary
      COG1940
      Location:350 → 654
      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]

    5. NM_001374797.1 → NP_001361726.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL158830
      UniProtKB/TrEMBL
      Q6QNY5, Q6QNY6, Q6QNY7
      Conserved Domains (2) summary
      COG1940
      Location:358 → 662
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      cl39071
      Location:11 → 323
      WecB; UDP-N-acetylglucosamine 2-epimerase [Cell wall/membrane/envelope biogenesis]

    6. NM_001374798.1 → NP_001361727.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL158830
      Consensus CDS
      CCDS55310.2
      UniProtKB/TrEMBL
      A0A7I2SU25, Q6QNY7
      Conserved Domains (2) summary
      COG1940
      Location:350 → 654
      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]

    7. NM_005476.7 → NP_005467.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 2

      See identical proteins and their annotated locations for NP_005467.1

      Status: REVIEWED

      Source sequence(s)
      AL158830, BC121179, BP201585, CA503236
      Consensus CDS
      CCDS6602.1
      UniProtKB/Swiss-Prot
      A6PZH2, A6PZH3, A7UNU7, B2R6E1, B7Z372, B7Z428, D3DRP7, F5H499, H0YFA7, Q0VA94, Q9Y223
      UniProtKB/TrEMBL
      Q6QNY5, Q6QNY6, Q6QNY7
      Related
      ENSP00000494141.2, ENST00000642385.2
      Conserved Domains (2) summary
      COG1940
      Location:409 → 713
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      36214441..36276978 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251334.5 → XP_005251391.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X2

      UniProtKB/TrEMBL
      Q6QNY5, Q6QNY6, Q6QNY7
      Conserved Domains (4) summary
      cd03786
      Location:42 → 355
      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:389 → 693
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      TIGR03568
      Location:42 → 354
      NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing
      cl17037
      Location:390 → 649
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    2. XM_017014167.1 → XP_016869656.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X1

      UniProtKB/Swiss-Prot
      A6PZH2, A6PZH3, A7UNU7, B2R6E1, B7Z372, B7Z428, D3DRP7, F5H499, H0YFA7, Q0VA94, Q9Y223
      UniProtKB/TrEMBL
      Q6QNY5, Q6QNY6, Q6QNY7
      Conserved Domains (2) summary
      COG1940
      Location:409 → 713
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      36236447..36298980 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361694.1 → XP_054217669.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X2

      UniProtKB/TrEMBL
      Q6QNY5, Q6QNY6, Q6QNY7

    2. XM_054361693.1 → XP_054217668.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X1

      UniProtKB/Swiss-Prot
      A6PZH2, A6PZH3, A7UNU7, B2R6E1, B7Z372, B7Z428, D3DRP7, F5H499, H0YFA7, Q0VA94, Q9Y223
      UniProtKB/TrEMBL
      Q6QNY5, Q6QNY6, Q6QNY7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y223.1 GenPept UniProtKB/Swiss-Prot:Q9Y223

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