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Tbio
NEU1
Sialidase-1

Protein Classes
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
Gene Name
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
Illumination Graph
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 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)
Items per page:
1 – 4 of 4
GWAS Trait
EFO ID
ENSG ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
1
1
0
1.1
78.3
1
1
0
1.1
78.3
glomerular filtration rate
1
1
1
37.2
glomerular filtration rate
1
1
1
37.2
Items per page:
1 – 4 of 4
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.1
78.3
0
1.1
78.3
glomerular filtration rate
1
37.2
glomerular filtration rate
1
37.2
Pathways (22)
Asparagine N-linked glycosylation (R-HSA-446203)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 17
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Asparagine N-linked glycosylation
Reactome
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Reactome
Defective NEU1 causes sialidosis
Reactome
Disease
Reactome
Diseases associated with glycosylation precursor biosynthesis
Name
Explore in Pharos
Explore in Source
Asparagine N-linked glycosylation
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Defective NEU1 causes sialidosis
Disease
Diseases associated with glycosylation precursor biosynthesis
Gene Ontology Terms (19)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Mutant Phenotype (IMP)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-EC
Inferred from Electronic Annotation (IEA)
UniProtKB-EC
Inferred from Electronic Annotation (IEA)
UniProtKB-EC
Protein-Protein Interactions (119)
1 – 10 of 119
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
PubTator Score  6521.87

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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