Protein Summary
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]
- ENST00000229725
- ENSP00000229725
- ENSG00000184494
- ENST00000375631
- ENSP00000364782
- ENSG00000204386
- ENST00000411774
- ENSP00000399309
- ENSG00000234846
- ENST00000422978
- ENSP00000408957
- ENSG00000227129
- ENST00000423382
- ENSP00000401067
- ENSG00000228691
- ENST00000434496
- ENSP00000409489
- ENSG00000234343
- ENST00000437432
- ENSP00000403720
- ENSG00000223957
- ENST00000439648
- ENSP00000408207
- ENSG00000227315
- NANH
- NEU
- NANH
- SIAL1
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 | ||
Protein Classes
IDG Development Level Summary
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: 286.17 (req: < 5)
Gene RIFs: 84 (req: <= 3)
Antibodies: 341 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 286.17 (req: >= 5)
Gene RIFs: 84 (req: > 3)
Antibodies: 341 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 9
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligands: 11
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0