Tbio NEU1 Sialidase-1

Protein Classes

PANTHER Classes

Protein / Hydrolase / Sialidase-1

DTO Classes

Protein / Enzyme / Hydrolase / Sialidase-1

Protein Summary

Description

Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage. The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• Q99519

Gene Name

• NEU1

Ensembl ID

• ENST00000229725
• ENSP00000229725
• ENSG00000184494
• ENST00000375631
• ENSP00000364782
• ENSG00000204386
• ENST00000411774
• ENSP00000399309
• ENSG00000234846
• ENST00000422978
• ENSP00000408957
• ENSG00000227129
• ENST00000423382
• ENSP00000401067
• ENSG00000228691
• ENST00000434496
• ENSP00000409489
• ENSG00000234343
• ENST00000437432
• ENSP00000403720
• ENSG00000223957
• ENST00000439648
• ENSP00000408207
• ENSG00000227315

Symbol

• NANH
• NEU
• NANH
• SIAL1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.91
cellular component	0.82
transcription factor binding site profile	0.76
disease perturbation	0.74
transcription factor perturbation	0.74

IDG Partner Tools

GlyGen

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: 230.66   (req: < 5)

Gene RIFs: 55   (req: <= 3)

Antibodies: 341   (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: 230.66   (req: >= 5)

Gene RIFs: 55   (req: > 3)

Antibodies: 341   (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

GWAS Traits (4)

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5

1 – 4 of 4

GWAS Trait	EFO ID	ENSG ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
schizophrenia	EFO_0000692	ENSG00000204386	1	1	0	1.1	78.3
schizophrenia	EFO_0000692	ENSG00000234343	1	1	0	1.1	78.3
glomerular filtration rate	EFO_0005208	ENSG00000234343	1	1	1		37.2
glomerular filtration rate	EFO_0005208	ENSG00000204386	1	1	1		37.2

Items per page:

5

1 – 4 of 4

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
schizophrenia	EFO_0000692	0	1.1	78.3
schizophrenia	EFO_0000692	0	1.1	78.3
glomerular filtration rate	EFO_0005208	1		37.2
glomerular filtration rate	EFO_0005208	1		37.2

Reset Zoom  Beta Count   Odds Ratio

Pathways (22)

Reactome (17)

KEGG (4)

WikiPathways (1)

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

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Find Similar Targets

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1 – 5 of 17

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 NEU1 causes sialidosis	3 targets	R-HSA-4341670
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 NEU1 causes sialidosis	3 targets	R-HSA-4341670
Disease	1105 targets	R-HSA-1643685
Diseases associated with glycosylation precursor biosynthesis	18 targets	R-HSA-5609975

Gene Ontology Terms (19)

Functions (5)

Components (10)

Processes (4)

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Items per page:

10

1 – 5 of 5

GO Term	Evidence	Assigned by
exo-alpha-sialidase activity	Inferred from Direct Assay (IDA)	UniProtKB
alpha-sialidase activity	Inferred from Mutant Phenotype (IMP)	UniProtKB
exo-alpha-(2->3)-sialidase activity	Inferred from Electronic Annotation (IEA)	UniProtKB-EC
exo-alpha-(2->6)-sialidase activity	Inferred from Electronic Annotation (IEA)	UniProtKB-EC
exo-alpha-(2->8)-sialidase activity	Inferred from Electronic Annotation (IEA)	UniProtKB-EC

Protein-Protein Interactions (119)

Explore Interacting Targets

1 – 10 of 119

• See Interactions on String-DB

CTSA

Tchem

Family: Enzyme

Novelty: 0.00170931

Score: 0.987

Data Source: Reactome,STRINGDB

GLB1

Tchem

Family: Enzyme

Novelty: 0.00241713

Score: 0.979

Data Source: Reactome,STRINGDB

ARSA

Tbio

Family: Enzyme

Novelty: 0.00469851

Score: 0.923

Data Source: STRINGDB

GLA

Tclin

Family: Enzyme

Novelty: 0.00075604

Score: 0.914

Data Source: STRINGDB

CHIT1

Tbio

Family: Enzyme

Novelty: 0.00113383

Score: 0.909

Data Source: STRINGDB

CTSZ

Tchem

Family: Enzyme

Novelty: 0.0100016

Score: 0.907

Data Source: STRINGDB

CTSD

Tchem

Family: Enzyme

Novelty: 0.00029823

Score: 0.906

Data Source: STRINGDB

OSCAR

Tbio

Novelty: 0.00176954

Score: 0.905

Data Source: STRINGDB

LRG1

Tbio

Novelty: 0.00445522

Score: 0.905

Data Source: STRINGDB

ELANE

Tclin

Family: Enzyme

Novelty: 0.00026112

Score: 0.905

Data Source: STRINGDB

Publication Statistics

PubMed Score  230.66

PubMed score by year

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PubTator Score  6521.87

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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UniProt Keyword Find Similar Targets

Carbohydrate metabolism
Cell membrane
Complete proteome
Cytoplasmic vesicle
Direct protein sequencing
Disease mutation
Glycoprotein
Glycosidase
Hydrolase
Lipid degradation

GWAS Trait Find Similar Targets

glomerular filtration rate
schizophrenia

MGI Phenotype Find Similar Targets

behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
craniofacial phenotype
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hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
integument phenotype
liver/biliary system phenotype