DISEASES

Disease-gene associations mined from literature

Literature on UCHL3

UCHL3 [ENSP00000366819]

Ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase); 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; Belongs to the peptidase C12 family.

Synonyms:  UCHL3,  UCHL3p,  hUCHL3,  P15374,  Q5TBK7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM