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

Gene ID: 10020, updated on 7-Apr-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
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Genomic context

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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

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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. Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE). Hagenhaus V, et al. Biomolecules, 2023 Feb 23. PMID 36979358, Free PMC Article
  2. Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder. Sharma S, et al. Biochimie, 2022 Aug. PMID 35398442
  3. Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review. Li X, et al. BMC Med Genet, 2020 Nov 16. PMID 33198675, Free PMC Article
  4. Motor axonal neuropathy associated with GNE mutations. Grecu N, et al. Muscle Nerve, 2021 Mar. PMID 33094863
  5. The level of GNE and its relationship with behavioral phenotypes in children with autism spectrum disorder. Yang X, et al. Medicine (Baltimore), 2020 Jul 10. PMID 32664106, Free PMC Article

See all (140) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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?
  2. 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.
  3. 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).
  4. 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.
  5. Motor axonal neuropathy associated with GNE mutations.
    Title: Motor axonal neuropathy associated with GNE mutations.
  6. 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.
  7. 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.
  8. 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.
  9. Results indicate that the GNE gene may be associated with autism spectrum disorder, and it is also related to autistic behavioral performance, such as stereotypical behaviors, autistic mannerisms, and social cognition ability
    Title: The level of GNE and its relationship with behavioral phenotypes in children with autism spectrum disorder.
  10. A GNE myopathy diagnosis is evidenced by characteristic clinical manifestations, rimmed vacuoles in muscle biopsies and the presence of biallelic GNE mutations.
    Title: Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.
Submit: New GeneRIF Correction See all GeneRIFs (80)

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: CN377238 OMIM: 620757 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 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

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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_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_005251334.5 → 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

  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
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y223.1 GenPept UniProtKB/Swiss-Prot:Q9Y223

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