EC Number | Application | Comment | Organism |
---|---|---|---|
3.4.19.12 | medicine | UCH-L1 is an important component of the ubiquitin-proteasome system and is linked to Parkinson´s, Huntington´s, Alzheimer´s disease and other neurodegenerative disorders. UCH-L1 is an attractive target for the development of new therapeutic approaches to Alzheimer´s disease | Homo sapiens |
EC Number | Protein Variants | Comment | Organism |
---|---|---|---|
3.4.19.12 | I93M | missense mutation in the UCH-L1 gene in a German family with a familial case of Parkinson´s disease, decreases hydrolytic activity | Homo sapiens |
3.4.19.12 | S18Y | reduces risk of Parkinson´s disease. The protective role reflects a restricted mechanism only applied in sporadic Parkinson´s disease patients. The mutant is less likely to form dimers. Mutation also present in patients with earlier/later onset of Huntington´s disease | Homo sapiens |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
3.4.19.12 | Homo sapiens | - |
- |
- |
EC Number | Source Tissue | Comment | Organism | Textmining |
---|---|---|---|---|
3.4.19.12 | brain | highly expressed. UCH-L1 expression and protein level are downregulated in the brain of patients with Alzheimer´s disease | Homo sapiens | - |
3.4.19.12 | lewy body | present in patients with sporadic Parkinson´s disease | Homo sapiens | - |
3.4.19.12 | neurofibrillary tangle | present in patients with Alzheimer´s disease | Homo sapiens | - |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
3.4.19.12 | additional information | UCH-L1 may directly destroy or neutralize oligomeric beta-amyloid peptide and may promote degradation of beta- and gamma secretase, or amyloid precursor protein | Homo sapiens | ? | - |
? | |
3.4.19.12 | ubiquitin + H2O | UCH-L1 removes and recycles ubiquitin molecules from degraded proteins | Homo sapiens | monoubiquitin | - |
? |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
3.4.19.12 | PGP9.5.1 | - |
Homo sapiens |
3.4.19.12 | ubiquitin C-terminal hydrolase L1 | - |
Homo sapiens |
3.4.19.12 | UCH-L1 | - |
Homo sapiens |