| Tbio | Sialidase-1 |
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Myoclonic Epilepsies, Progressive | 44 | 0.0 | 0.0 |
| Neuraminidase 1 deficiency | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ulcerative colitis | 1819 | 1.0e-05 |
| ovarian cancer | 8520 | 1.1e-04 |
| medulloblastoma, large-cell | 6241 | 2.8e-04 |
| Multiple myeloma | 1332 | 1.4e-03 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 6.6e-03 |
| glioblastoma | 5792 | 9.5e-03 |
| Disease | Target Count |
|---|---|
| Glycoproteinosis | 12 |
| Sialidosis type 1 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| glioblastoma | 1.300 | 9.5e-03 |
| intraductal papillary-mucinous neoplasm ... | -1.100 | 6.6e-03 |
| medulloblastoma, large-cell | -1.100 | 2.8e-04 |
| Multiple myeloma | 1.147 | 1.4e-03 |
| ovarian cancer | 1.400 | 1.1e-04 |
| ulcerative colitis | -1.400 | 1.0e-05 |
MTGERPSTALPDRRWGPRILGFWGGCRVWVFAAIFLLLSLAASWSKAENDFGLVQPLVTMEQLLWVSGRQ 1 - 70 IGSVDTFRIPLITATPRGTLLAFAEARKMSSSDEGAKFIALRRSMDQGSTWSPTAFIVNDGDVPDGLNLG 71 - 140 AVVSDVETGVVFLFYSLCAHKAGCQVASTMLVWSKDDGVSWSTPRNLSLDIGTEVFAPGPGSGIQKQREP 141 - 210 RKGRLIVCGHGTLERDGVFCLLSDDHGASWRYGSGVSGIPYGQPKQENDFNPDECQPYELPDGSVVINAR 211 - 280 NQNNYHCHCRIVLRSYDACDTLRPRDVTFDPELVDPVVAAGAVVTSSGIVFFSNPAHPEFRVNLTLRWSF 281 - 350 SNGTSWRKETVQLWPGPSGYSSLATLEGSMDGEEQAPQLYVLYEKGRNHYTESISVAKISVYGTL 351 - 415 //
