Tbio GNE Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Protein Summary

Description

Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells. 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]

Uniprot Accession IDs

• Q9Y223
• A6PZH2
• A6PZH3
• A7UNU7
• B2R6E1
• B7Z372
• B7Z428
• D3DRP7
• F5H499
• H0YFA7
• Q0VA94

Gene Name

• GNE

Ensembl ID

• ENST00000377902
• ENSP00000367134
• ENSG00000159921
• ENST00000396594
• ENSP00000379839
• ENST00000447283
• ENSP00000414760
• ENST00000539208
• ENSP00000445117
• ENST00000539815
• ENSP00000439155
• ENST00000543356
• ENSP00000437765
• ENST00000642385
• ENSP00000494141

Symbol

• GLCNE
• NM
• DMRV
• IBM2
• Uae1
• GLCNE

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	1
virus perturbation	1
molecular function	0.99
kinase perturbation	0.91
gene perturbation	0.8

Protein Classes

PANTHER Classes

Protein / Transferase / Kinase / Carbohydrate Kinase / Bifunctional Udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine Kinase

Protein / Transcription Factor / Bifunctional Udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine Kinase

Protein / Isomerase / Epimerase/racemase / Bifunctional Udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine Kinase

DTO Classes

Protein / Enzyme / Isomerase / Epimerase/racemase / Bifunctional Udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine Kinase

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 358.36   (req: < 5)

Gene RIFs: 67   (req: <= 3)

Antibodies: 226   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 358.36   (req: >= 5)

Gene RIFs: 67   (req: > 3)

Antibodies: 226   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 9

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (114)

Explore Interacting Targets

1 – 10 of 114

• See Interactions on String-DB

C2orf68

Tdark

Novelty:  0.7947239

p_int:  0.999999886

p_ni:  1.12e-7

p_wrong:  3e-9

Score:  0.507

Data Source:  BioPlex,STRINGDB

LGALS3BP

Tbio

Novelty:  0.0025302

p_int:  0.999951299

p_ni:  5.65e-7

p_wrong:  0.000048136

Score:  0.181

Data Source:  BioPlex,STRINGDB

ZNF764

Tdark

Family:  TF

Novelty:  0.76308829

p_int:  0.999767485

p_ni:  0.0002325

p_wrong:  1.6e-8

Score:  0.161

Data Source:  BioPlex,STRINGDB

TIMM50

Tbio

Family:  Enzyme

Novelty:  0.0238053

p_int:  0.999600422

p_ni:  0.000394337

p_wrong:  0.000005241

Score:  0.189

Data Source:  BioPlex,STRINGDB

ZNF213

Tbio

Family:  TF

Novelty:  0.24190639

p_int:  0.999514229

p_ni:  0.000484464

p_wrong:  0.000001307

Data Source:  BioPlex

NANS

Tbio

Family:  Enzyme

Novelty:  0.00718044

Score:  0.989

Data Source:  STRINGDB

RENBP

Tbio

Family:  Enzyme

Novelty:  0.02220005

Score:  0.987

Data Source:  STRINGDB

UAP1

Tbio

Family:  Enzyme

Novelty:  0.02034314

Score:  0.97

Data Source:  STRINGDB

NPL

Tbio

Family:  Enzyme

Novelty:  0.00944797

Score:  0.957

Data Source:  STRINGDB

UAP1L1

Tdark

Family:  Enzyme

Novelty:  0.36065169

Score:  0.933

Data Source:  STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (15)

Reactome (10)

KEGG (2)

PathwayCommons (2)

UniProt (1)

Asparagine N-linked glycosylation (R-HSA-446203)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Asparagine N-linked glycosylation	286 targets	R-HSA-446203
Reactome	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	78 targets	R-HSA-446193
Reactome	Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2	1 targets	R-HSA-4085011
Reactome	Disease	1105 targets	R-HSA-1643685
Reactome	Diseases associated with glycosylation precursor biosynthesis	18 targets	R-HSA-5609975

Name	Explore in Pharos	Explore in Source
Asparagine N-linked glycosylation	286 targets	R-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	78 targets	R-HSA-446193
Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2	1 targets	R-HSA-4085011
Disease	1105 targets	R-HSA-1643685
Diseases associated with glycosylation precursor biosynthesis	18 targets	R-HSA-5609975

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (11)

Functions (5)

Components (2)

Processes (4)

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1 – 5 of 5

GO Term	Evidence	Assigned by
N-acylmannosamine kinase activity	Traceable Author Statement (TAS)	Reactome
UDP-N-acetylglucosamine 2-epimerase activity	Traceable Author Statement (TAS)	Reactome
ATP binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW
hydrolase activity, hydrolyzing O-glycosyl compounds	Inferred from Electronic Annotation (IEA)	InterPro
metal ion binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Disease Associations ()

No disease associations found

GWAS Traits (2)

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1 – 2 of 2

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
schizophrenia	EFO_0000692	1	1	1		1.8
autism spectrum disorder	EFO_0003756	1	1	1		1.8

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 2 of 2

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
schizophrenia	EFO_0000692	1		1.8
autism spectrum disorder	EFO_0003756	1		1.8

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UniProt Keyword Find Similar Targets

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3D-structure
Allosteric enzyme
Alternative splicing
ATP-binding
Complete proteome
Cytoplasm
Disease mutation
Hydrolase
Kinase
Metal-binding

GWAS Trait Find Similar Targets

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autism spectrum disorder
schizophrenia

MGI Phenotype Find Similar Targets

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behavior/neurological phenotype
cardiovascular system phenotype
growth/size/body region phenotype
homeostasis/metabolism phenotype
immune system phenotype
mortality/aging
renal/urinary system phenotype

IDG Resources

No IDG generated resources found

Orthologs (12)

1 – 5 of 12

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	VGNC:8890	465094
Macaque	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase		693525
Mouse	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	MGI:1354951	50798
Rat	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	RGD:69239	114711
Dog	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	VGNC:51721	481607

Species	Name	OMA	EggNOG	Inparanoid
Chimp	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Macaque	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Mouse	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Rat	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Dog	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Publication Statistics

PubMed Score 358.36

PubMed score by year

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PubTator Score 217.10

PubTator score by year

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Related Publications

Text Mined References (97)

GeneRif Annotations (67)

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PMID	Year	Title