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

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

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

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: 302.64   (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: 302.64   (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 Data Bank (5)

1 – 5 of 5

PDB Structure Id	Ligand	Method	Resolution (Å)	M.W. (kDa)	Pub Year	Title

PDB Structure Id	M.W.	Resolution	Pub Year

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

Gene Ontology Terms (11)

Functions (5)

Components (2)

Processes (4)

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10

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

Protein-Protein Interactions (114)

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1 – 10 of 114

• See Interactions on String-DB

C2orf68

Tdark

Novelty: 0.31818182

p_int: 0.999999886

p_ni: 1.12e-7

p_wrong: 3e-9

Score: 0.507

Data Source: BioPlex,STRINGDB

LGALS3BP

Tbio

Novelty: 0.00116733

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: 0.92307692

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: 0.03118503

p_int: 0.999600422

p_ni: 0.000394337

p_wrong: 0.000005241

Score: 0.189

Data Source: BioPlex,STRINGDB

ZNF213

Tdark

Family: TF

Novelty: 0.21686747

p_int: 0.999514229

p_ni: 0.000484464

p_wrong: 0.000001307

Data Source: BioPlex

NANS

Tbio

Family: Enzyme

Novelty: 0.01128195

Score: 0.989

Data Source: STRINGDB

RENBP

Tbio

Family: Enzyme

Novelty: 0.02774701

Score: 0.987

Data Source: STRINGDB

UAP1

Tbio

Family: Enzyme

Novelty: 0.00433399

Score: 0.97

Data Source: STRINGDB

NPL

Tbio

Family: Enzyme

Novelty: 0.00077394

Score: 0.957

Data Source: STRINGDB

UAP1L1

Tdark

Family: Enzyme

Novelty: 1.14285714

Score: 0.933

Data Source: STRINGDB

Publication Statistics

PubMed Score  302.64

PubMed score by year

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PubTator Score  217.1

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Amino Acid Sequence

Residue Counts

Protein Sequence

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

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behavior/neurological phenotype
cardiovascular system phenotype
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