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

Gene ID: 10020, updated on 12-Dec-2014
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; HPRD:04825; 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]
Location:
9p13.3
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 high mobility group box 3 pseudogene 24 Neighboring gene ring finger protein 38 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 4

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 IEA
Inferred from Electronic Annotation
more info
 
UDP-N-acetylglucosamine 2-epimerase activity IEA
Inferred from Electronic Annotation
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
 
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
 
carbohydrate phosphorylation TAS
Traceable Author Statement
more info
PubMed 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Names
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
N-acylmannosamine kinase
UDP-GlcNAc-2-epimerase/ManAc kinase
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase
NP_001121699.1
NP_001177312.1
NP_001177313.1
NP_001177317.1
NP_005467.1

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 

    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 proteins identical to 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, OTTHUMP00000239704, ENST00000396594, 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 ...
    cd00012
    Location:441571
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    COG1940
    Location:440744
    NagC; Transcriptional regulator/sugar kinase [Transcription / Carbohydrate transport and metabolism]
    TIGR03568
    Location:42405
    NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing
  2. NM_001190383.1NP_001177312.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 4

    See proteins identical to 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
    Conserved Domains (5) 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; Transcriptional regulator/sugar kinase [Transcription / Carbohydrate transport and metabolism]
    TIGR03568
    Location:11374
    NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing
    pfam00370
    Location:410460
    FGGY_N; FGGY family of carbohydrate kinases, N-terminal domain
    cl17037
    Location:481522
    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 proteins identical to 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
    Conserved Domains (4) summary
    cd00012
    Location:300430
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    COG1940
    Location:299603
    NagC; Transcriptional regulator/sugar kinase [Transcription / Carbohydrate transport and metabolism]
    pfam02350
    Location:4265
    Epimerase_2; UDP-N-acetylglucosamine 2-epimerase
    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 ...
  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
    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 ...
    cd00012
    Location:405535
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    COG1940
    Location:404708
    NagC; Transcriptional regulator/sugar kinase [Transcription / Carbohydrate transport and metabolism]
    pfam02350
    Location:42370
    Epimerase_2; UDP-N-acetylglucosamine 2-epimerase
  5. NM_005476.5NP_005467.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 2

    See proteins identical to 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
    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 ...
    cd00012
    Location:410540
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    COG1940
    Location:409713
    NagC; Transcriptional regulator/sugar kinase [Transcription / Carbohydrate transport and metabolism]
    TIGR03568
    Location:11374
    NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

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

mRNA and Protein(s)

  1. XM_005251334.2XP_005251391.1  

    Related
    ENSP00000437765, OTTHUMP00000239705, ENST00000543356, OTTHUMT00000401510
    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 ...
    cd00012
    Location:390520
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    COG1940
    Location:389693
    NagC; Transcriptional regulator/sugar kinase [Transcription / Carbohydrate transport and metabolism]
    TIGR03568
    Location:42354
    NeuC_NnaA; UDP-N-acetyl-D-glucosamine 2-epimerase, UDP-hydrolysing

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

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

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    36168432..36230185
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)