Aliases for UCHL3 Gene
External Ids for UCHL3 Gene
Previous GeneCards Identifiers for UCHL3 Gene
The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
GeneCards Summary for UCHL3 Gene
UCHL3 (Ubiquitin C-Terminal Hydrolase L3) is a Protein Coding gene. Diseases associated with UCHL3 include Autosomal Dominant Cerebellar Ataxia. Among its related pathways are Protein ubiquitination and Deubiquitination. Gene Ontology (GO) annotations related to this gene include peptidase activity and ubiquitin binding. An important paralog of this gene is UCHL1.
UniProtKB/Swiss-Prot Summary for UCHL3 Gene
Deubiquitinating enzyme (DUB) that controls levels of cellular ubiquitin through processing of ubiquitin precursors and ubiquitinated proteins. Thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of either ubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys at position P3'', and exhibits a preference towards 'Lys-48'-linked ubiquitin chains. Deubiquitinates ENAC in apical compartments, thereby regulating apical membrane recycling. Indirectly increases the phosphorylation of IGFIR, AKT and FOXO1 and promotes insulin-signaling and insulin-induced adipogenesis. Required for stress-response retinal, skeletal muscle and germ cell maintenance. May be involved in working memory. Can hydrolyze UBB(+1), a mutated form of ubiquitin which is not effectively degraded by the proteasome and is associated with neurogenerative disorders.