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Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [ Mus musculus (house mouse) ]

Gene ID: 50798, updated on 21-Apr-2024

Summary

Official Symbol
Gneprovided by MGI
Official Full Name
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinaseprovided by MGI
Primary source
MGI:MGI:1354951
See related
Ensembl:ENSMUSG00000028479 AllianceGenome:MGI:1354951
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
NM; DMRV; IBM2; Uae1; GLCNE; 2310066H07Rik
Summary
Predicted to enable N-acylmannosamine kinase activity and UDP-N-acetylglucosamine 2-epimerase activity. Predicted to be involved in UDP-N-acetylglucosamine metabolic process. Predicted to act upstream of or within N-acetylneuraminate metabolic process. Predicted to be located in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and respiratory system. Human ortholog(s) of this gene implicated in GNE myopathy and sialuria. Orthologous to human GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in colon adult (RPKM 40.8), genital fat pad adult (RPKM 9.1) and 25 other tissues See more
Orthologs
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Genomic context

Location:
4 B1; 4 23.1 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (44034075..44084177, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (44034075..44084177, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene calicin Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:44025298-44025528 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:44035322-44035529 Neighboring gene clathrin light chain A Neighboring gene STARR-seq mESC enhancer starr_10067 Neighboring gene STARR-positive B cell enhancer ABC_E7965 Neighboring gene prothymosin alpha, pseudogene 2 Neighboring gene STARR-positive B cell enhancer ABC_E10233 Neighboring gene ring finger protein 38 Neighboring gene STARR-positive B cell enhancer mm9_chr4:44186052-44186353 Neighboring gene STARR-positive B cell enhancer mm9_chr4:44212798-44213099 Neighboring gene microRNA 5106

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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 ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
 
enables catalytic activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity, hydrolyzing O-glycosyl compounds IEA
Inferred from Electronic Annotation
more info
 
enables kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Names
UDP-GlcNAc-2-epimerase/ManAc kinase
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
NP_001177343.1
NP_001344468.1
NP_056643.3
XP_006538136.1
XP_030109515.1

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.

mRNA and Protein(s)

  1. NM_001190414.2NP_001177343.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 1

    See identical proteins and their annotated locations for NP_001177343.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) contains a different 5' terminal exon compared to transcript variant 1, which results in translation initiation from an in-frame downstream start codon. The resulting protein (isoform 1) has a shorter N-terminus compared to isoform 2. This variant has been called GNE1 in the scientific literature.
    Source sequence(s)
    AK033507, AK136573, AL732563, BB856323, BY036706, BY310771
    Consensus CDS
    CCDS51170.1
    UniProtKB/Swiss-Prot
    Q8CC83, Q8CCB0, Q91WG8, Q9Z0P6
    UniProtKB/TrEMBL
    G3UX23, Q3TCI8
    Related
    ENSMUSP00000100000.3, ENSMUST00000102936.9
    Conserved Domains (2) summary
    COG1940
    Location:409722
    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
  2. NM_001357539.1NP_001344468.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AK033507, AK136573, AL732563, BB856323, BY036706, BY310771
    Conserved Domains (2) summary
    COG1940
    Location:205518
    NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
    cl27436
    Location:8170
    Epimerase_2; UDP-N-acetylglucosamine 2-epimerase
  3. NM_015828.3NP_056643.3  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 2

    See identical proteins and their annotated locations for NP_056643.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) encodes the longest protein (isoform 2). This variant has been called GNE2 in the scientific literature.
    Source sequence(s)
    AK033507, AK136573, CF755618
    Consensus CDS
    CCDS18120.2
    UniProtKB/TrEMBL
    G3UX23, Q3UW64
    Related
    ENSMUSP00000030201.8, ENSMUST00000030201.14
    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:440753
    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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    44034075..44084177 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006538073.5XP_006538136.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X1

    UniProtKB/TrEMBL
    G3UX23
    Conserved Domains (2) summary
    COG1940
    Location:434747
    NagC; Sugar kinase of the NBD/HSP70 family, may contain an N-terminal HTH domain [Transcription, Carbohydrate transport and metabolism]
    cl39071
    Location:36399
    WecB; UDP-N-acetylglucosamine 2-epimerase [Cell wall/membrane/envelope biogenesis]
  2. XM_030253655.2XP_030109515.1  bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X2

    UniProtKB/TrEMBL
    G3UX23
    Conserved Domains (2) summary
    COG1940
    Location:350663
    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]