| Activity |
|---|
| Catalytic type | Cysteine |
| Peplist | Included in the Peplist with identifier PL00094 |
| NC-IUBMB | Not yet included in IUBMB recommendations. |
| Activity status | human: active (Wilkinson, 2004)
mouse: active (by similarity to rat) (Kajimoto et al., 1992)
|
| Physiology | Represents more than 1% of the protein in the human brain, but is absent from other tissues (Wilkinson et al., 1989). Acts in the recycling of ubiquitin in ubiquitin-dependent proteolysis. |
| Knockout | In mouse, gracile axonal dystrophy (gad) is attributable to a truncated ubiquitinyl hydrolase L1 (UCHL1) gene product lacking a segment of 42 amino acids that contains a catalytic residue (Saigoh et al., 1999). UCHL1 is required for normal spermatogenesis and sperm quality control in mice (Kwon et al., 2005). In human, mutation at residue 93 and polymorphism at residue 18 are linked to familial Parkinson"s disease and a decreased Parkinson"s disease risk, respectively (Nishikawa et al., 2003). The connection to familial Parkinson"s disease has been further discussed by Das et al. (2006). |
| Pathways |
KEGG | Parkinson's disease |
|
Other databases
| WIKIPEDIA | http://en.wikipedia.org/wiki/UCHL1 |
