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

    Gene ID: 10020, updated on 6-Jun-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See GNE in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (36214441..36276978, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (36236447..36298980, complement)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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
     
    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

    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)

    NEW Try the new Transcript table

    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_001128227.3NP_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:440744
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      cl39071
      Location:42405
      WecB; UDP-N-acetylglucosamine 2-epimerase [Cell wall/membrane/envelope biogenesis]
    2. NM_001190383.3NP_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:480639
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      cl17037
      Location:410429
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
      cl27436
      Location:11374
      Epimerase_2; UDP-N-acetylglucosamine 2-epimerase
    3. NM_001190384.3NP_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:299603
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      cl27436
      Location:2264
      Epimerase_2; UDP-N-acetylglucosamine 2-epimerase
    4. NM_001190388.2NP_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:350654
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      cl39071
      Location:2315
      WecB; UDP-N-acetylglucosamine 2-epimerase [Cell wall/membrane/envelope biogenesis]
    5. NM_001374797.1NP_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:358662
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      cl39071
      Location:11323
      WecB; UDP-N-acetylglucosamine 2-epimerase [Cell wall/membrane/envelope biogenesis]
    6. NM_001374798.1NP_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:350654
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      cl39071
      Location:2315
      WecB; UDP-N-acetylglucosamine 2-epimerase [Cell wall/membrane/envelope biogenesis]
    7. NM_005476.7NP_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:409713
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      TIGR03568
      Location:11374
      NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_005251334.5XP_005251391.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X2

      UniProtKB/TrEMBL
      Q6QNY5, Q6QNY6, Q6QNY7
      Conserved Domains (4) summary
      cd03786
      Location:42355
      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:389693
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      TIGR03568
      Location:42354
      NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing
      cl17037
      Location:390649
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    2. XM_017014167.1XP_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:409713
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      TIGR03568
      Location:11374
      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_054361694.1XP_054217669.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X2

      UniProtKB/TrEMBL
      Q6QNY5, Q6QNY6, Q6QNY7
    2. XM_054361693.1XP_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