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

    Gene ID: 10020, updated on 8-Oct-2017
    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; Vega:OTTHUMG00000019899
    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
    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]
    Orthologs
    Location:
    9p13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (36214441..36277056, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (36214438..36277053, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene calicin Neighboring gene clathrin light chain A Neighboring gene uncharacterized LOC102724322 Neighboring gene RNA, U4 small nuclear 53, pseudogene Neighboring gene high mobility group box 3 pseudogene 24 Neighboring gene ring finger protein 38 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 4

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    N-acylmannosamine kinase activity TAS
    Traceable Author Statement
    more info
     
    UDP-N-acetylglucosamine 2-epimerase activity TAS
    Traceable Author Statement
    more info
     
    hydrolase activity, hydrolyzing O-glycosyl compounds IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    N-acetylglucosamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    N-acetylneuraminate metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    UDP-N-acetylglucosamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    carbohydrate phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    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_001177317.1
    NP_005467.1
    XP_005251391.1
    XP_016869656.1
    XP_016869657.1

    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
      4989..67604
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128227.2NP_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

      Description
      Transcript Variant: This variant (1) encodes the longer protein (isoform 1). This variant has been called GNE2 in the scientific literature.
      Source sequence(s)
      AK312539, AL158830, BF197948, CA503236, DC416534, DC418354
      Consensus CDS
      CCDS47965.1
      UniProtKB/Swiss-Prot
      Q9Y223
      Related
      ENSP00000379839.3, OTTHUMP00000239704, ENST00000396594.7, OTTHUMT00000401509
      Conserved Domains (4) summary
      cd03786
      Location:42406
      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:440744
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      TIGR03568
      Location:42405
      NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing
      cl17037
      Location:441700
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    2. NM_001190383.1NP_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

      Description
      Transcript Variant: This variant (4) contains a different 5' terminal exon and lacks a 3' coding region segment, compared to transcript variant 1, which results in translation initiation from an in-frame downstream AUG. The predicted protein (isoform 4) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AL158830, BP201585, CA503236, EU093084
      Consensus CDS
      CCDS55309.1
      UniProtKB/Swiss-Prot
      Q9Y223
      Related
      ENSP00000414760.2, OTTHUMP00000239706, ENST00000447283.6, OTTHUMT00000401511
      Conserved Domains (4) summary
      cd03786
      Location:11375
      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:480639
      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
      cl17037
      Location:481595
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    3. NM_001190384.1NP_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

      Description
      Transcript Variant: This variant (5) contains a different 5' terminal exon and lacks two alternate 5' coding region segments, compared to transcript variant 1, which results in translation initiation from an in-frame downstream AUG. The predicted protein (isoform 5) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AK295562, AL158830, BC121179, BP201585, CA503236
      Consensus CDS
      CCDS55308.1
      UniProtKB/Swiss-Prot
      Q9Y223
      Related
      ENSP00000445117.1, OTTHUMP00000239695, ENST00000539208.5, OTTHUMT00000052413
      Conserved Domains (3) summary
      COG1940
      Location:299603
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      cl10013
      Location:2265
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
      cl17037
      Location:300559
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    4. NM_001190388.1NP_001177317.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks a 5' coding segment, which results in the use of an upstream alternate start codon, compared to variant 1. The predicted protein (isoform 3) has a shorter and distinct N-terminus when it is compared to isoform 1. This variant has been called GNE3 in the scientific literature.
      Source sequence(s)
      AK296687, AL158830, AM697709, CA503236, DC418354
      Consensus CDS
      CCDS55310.1
      UniProtKB/Swiss-Prot
      Q9Y223
      Related
      ENSP00000437765.2, OTTHUMP00000239705, ENST00000543356.6, OTTHUMT00000401510
      Conserved Domains (4) summary
      cd03786
      Location:42370
      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:404708
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      TIGR03568
      Location:42369
      NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing
      cl17037
      Location:405664
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    5. NM_005476.5NP_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

      Description
      Transcript Variant: This variant (2) contains a different 5' terminal exon compared to transcript variant 1, which results in translation initiation from an in-frame downstream AUG, and a protein (isoform 2) with a shorter N-terminus compared to isoform 1. This variant has been called GNE1 in the scientific literature.
      Source sequence(s)
      AL158830, BC121179, BP201585, CA503236
      Consensus CDS
      CCDS6602.1
      UniProtKB/Swiss-Prot
      Q9Y223
      Related
      ENSP00000367134.4, OTTHUMP00000021370, ENST00000377902.5, OTTHUMT00000052412
      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]
      cl27436
      Location:11374
      Epimerase_2; UDP-N-acetylglucosamine 2-epimerase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      36214441..36277056 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q9Y223
      Related
      ENSP00000439155.1, ENST00000539815.5
      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]
      cl27436
      Location:11374
      Epimerase_2; UDP-N-acetylglucosamine 2-epimerase
    2. XM_017014168.1XP_016869657.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X3

      Conserved Domains (4) summary
      cd03786
      Location:11324
      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:358662
      NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
      TIGR03568
      Location:11323
      NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing
      cl17037
      Location:359618
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    3. XM_005251334.4XP_005251391.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X2

      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

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      36214844..36277494 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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