Aliases for UCHL1 Gene
External Ids for UCHL1 Gene
Previous HGNC Symbols for UCHL1 Gene
Previous GeneCards Identifiers 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 early-onset progressive neurodegeneration - blindness - ataxia - spasticity and uchl1-related parkinson disease susceptibility. Among its related pathways are Alpha-synuclein signaling and Neuroscience. GO annotations related to this gene include ligase 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.