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    NAGK N-acetylglucosamine kinase [ Homo sapiens (human) ]

    Gene ID: 55577, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NAGKprovided by HGNC
    Official Full Name
    N-acetylglucosamine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:17174
    See related
    Ensembl:ENSG00000124357 MIM:606828; AllianceGenome:HGNC:17174
    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
    GNK; HSA242910
    Summary
    This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars. [provided by RefSeq, Nov 2011]
    Expression
    Ubiquitous expression in spleen (RPKM 27.6), esophagus (RPKM 26.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NAGK in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (71068296..71079808)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (71079325..71090837)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71295426..71306938)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tRNA-Glu (CTC) 15-1 Neighboring gene olfactory receptor family 7 subfamily E member 62 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71310886-71311700 Neighboring gene NANOG hESC enhancer GRCh37_chr2:71317686-71318275 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71330180-71330990 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71345289-71345789 Neighboring gene methylmalonyl-CoA epimerase Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71356582-71357440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16015 Neighboring gene M-phase phosphoprotein 10

    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. The Immunometabolic Gene N-Acetylglucosamine Kinase Is Uniquely Involved in the Heritability of Multiple Sclerosis Severity. Nataf S, et al. Int J Mol Sci, 2024 Mar 28. PMID 38612613, Free PMC Article
    2. Structures of human N-Acetylglucosamine kinase in two complexes with N-Acetylglucosamine and with ADP/glucose: insights into substrate specificity and regulation. Weihofen WA, et al. J Mol Biol, 2006 Dec 1. PMID 17010375
    3. N-acetylglucosamine kinase and N-acetylglucosamine 6-phosphate deacetylase in normal human erythrocytes and Plasmodium falciparum. Weidanz JA, et al. Br J Haematol, 1996 Dec. PMID 8982040
    4. Glutamine deprivation triggers NAGK-dependent hexosamine salvage. Campbell S, et al. Elife, 2021 Nov 30. PMID 34844667, Free PMC Article
    5. Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations. Mori-Yoshimura M, et al. J Neurol Sci, 2012 Jul 15. PMID 22507750

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Immunometabolic Gene N-Acetylglucosamine Kinase Is Uniquely Involved in the Heritability of Multiple Sclerosis Severity.
      Title: The Immunometabolic Gene N-Acetylglucosamine Kinase Is Uniquely Involved in the Heritability of Multiple Sclerosis Severity.
    2. N-Acetylglucosamine Kinase-Small Nuclear Ribonucleoprotein Polypeptide N Interaction Promotes Axodendritic Branching in Neurons via Dynein-Mediated Microtubule Transport.
      Title: N-Acetylglucosamine Kinase-Small Nuclear Ribonucleoprotein Polypeptide N Interaction Promotes Axodendritic Branching in Neurons via Dynein-Mediated Microtubule Transport.
    3. Glutamine deprivation triggers NAGK-dependent hexosamine salvage.
      Title: Glutamine deprivation triggers NAGK-dependent hexosamine salvage.
    4. Implementation of the plasma MYCN/NAGK ratio to detect MYCN amplification in patients with neuroblastoma.
      Title: Implementation of the plasma MYCN/NAGK ratio to detect MYCN amplification in patients with neuroblastoma.
    5. N-Acetyl-D-Glucosamine Kinase Interacts with NudC and Lis1 in Dynein Motor Complex and Promotes Cell Migration.
      Title: N-Acetyl-D-Glucosamine Kinase Interacts with NudC and Lis1 in Dynein Motor Complex and Promotes Cell Migration.
    6. In a screen for human kinases that regulate Xenopus laevis embryogenesis, we identified Nagk and other components of the UDP-GlcNAc glycosylation salvage pathway as regulators of anteroposterior patterning and Wnt signaling.
      Title: Developmental regulation of Wnt signaling by Nagk and the UDP-GlcNAc salvage pathway.
    7. results indicate that the NAGK-dynein interaction with the involvements of Lis1 and NudE1 plays an important role in prophase nuclear envelope breakdown (NEB) and metaphase MT-KT attachment during eukaryotic cell division.
      Title: N-Acetyl-D-Glucosamine Kinase Interacts with Dynein-Lis1-NudE1 Complex and Regulates Cell Division.
    8. Data shows associations between NAGK, speckle, paraspeckle and general transcription factor suggesting its regulatory roles in gene expression.
      Title: N-acetyl-D-glucosamine kinase is a component of nuclear speckles and paraspeckles.
    9. Participants with homozygous mutations in the N-acetylmannosamine kinase (GNK) domain have an earlier disease onset than heterozygous participants with mutations in the uridine diphosphate-N-acetylglucosamine 2-epimerase (GNE) and GNK domains.
      Title: Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
    10. Phosphorylation of Tyr205 may modulate GlcNAc kinase activity and/or specificity.
      Title: Structures of human N-Acetylglucosamine kinase in two complexes with N-Acetylglucosamine and with ADP/glucose: insights into substrate specificity and regulation.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    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-acetylglucosamine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables N-acetylglucosamine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables N-acetylglucosamine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables muramyl dipeptide kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in N-acetylglucosamine catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in N-acetylglucosamine metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in N-acetylmannosamine metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in N-acetylneuraminate catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in N-acetylneuraminate catabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in UDP-N-acetylglucosamine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in carbohydrate phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in defense response to bacterium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to muramyl dipeptide IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    N-acetyl-D-glucosamine kinase
    Names
    N-acetyl-D-mannosamine kinase
    epididymis secretory sperm binding protein
    glcNAc kinase
    muramyl dipeptide kinase
    NP_001317354.1
    NP_001317355.1
    NP_001352395.1
    NP_060037.4
    XP_016859929.2
    XP_054198816.1

    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_001330425.3 → NP_001317354.1  N-acetyl-D-glucosamine kinase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC007881
      Consensus CDS
      CCDS82466.1
      UniProtKB/TrEMBL
      C9JEV6, H7C3G9
      Related
      ENSP00000396070.3, ENST00000418807.7
      Conserved Domains (1) summary
      cl17037
      Location:2 → 228
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    2. NM_001330426.2 → NP_001317355.1  N-acetyl-D-glucosamine kinase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC007881
      Consensus CDS
      CCDS82466.1
      UniProtKB/TrEMBL
      C9JEV6, H7C3G9
      Conserved Domains (1) summary
      cl17037
      Location:2 → 228
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    3. NM_001365466.2 → NP_001352395.1  N-acetyl-D-glucosamine kinase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC007881
      Consensus CDS
      CCDS82466.1
      UniProtKB/TrEMBL
      C9JEV6, H7C3G9
      Conserved Domains (1) summary
      cl17037
      Location:2 → 228
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    4. NM_017567.6 → NP_060037.4  N-acetyl-D-glucosamine kinase isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC007881, AK297224, BC001029
      Consensus CDS
      CCDS33220.3
      UniProtKB/Swiss-Prot
      B4DLZ5, Q53HD5, Q6IA84, Q9BS29, Q9BVP0, Q9NV37, Q9UJ70
      UniProtKB/TrEMBL
      A0A384N6G7, H7C3G9
      Related
      ENSP00000244204.5, ENST00000244204.11
      Conserved Domains (1) summary
      cl17037
      Location:1 → 279
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      71068296..71079808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004440.2 → XP_016859929.2  N-acetyl-D-glucosamine kinase isoform X1

      Related
      ENSP00000435437.1, ENST00000524736.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      71079325..71090837
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342841.1 → XP_054198816.1  N-acetyl-D-glucosamine kinase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJ70.4 GenPept UniProtKB/Swiss-Prot:Q9UJ70

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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