Aliases for UCHL1 Gene
External Ids for UCHL1 Gene
Previous Symbols for UCHL1 Gene
The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009]
GeneCards Summary for UCHL1 Gene
UCHL1 (Ubiquitin Carboxyl-Terminal Esterase L1 (Ubiquitin Thiolesterase)) is a Protein Coding gene. Diseases associated with UCHL1 include parkinson disease 5 and early-onset progressive neurodegeneration - blindness - ataxia - spasticity. Among its related pathways are Alpha-synuclein signaling and Protein Stability. GO annotations related to this gene include ubiquitin thiolesterase activity and cysteine-type endopeptidase activity. An important paralog of this gene is UCHL3.
UniProtKB/Swiss-Prot for UCHL1 Gene
Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. Also binds to free monoubiquitin and may prevent its degradation in lysosomes. The homodimer may have ATP-independent ubiquitin ligase activity.