Summary for peptidase C12.001: ubiquitinyl hydrolase-L1

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Structure Literature Human EST Mouse EST Substrates Inhibitors


MEROPS Nameubiquitinyl hydrolase-L1
Other namesPGP 9.5, ubiquitin C-terminal hydrolase L1, UCH-L1 protein
Domain architecture
MEROPS Classification
Classification Clan CA >> Subclan (none) >> Family C12 >> Subfamily (none) >> C12.001
Holotypeubiquitinyl hydrolase-L1 (Homo sapiens), Uniprot accession P09936 (peptidase unit: 1-223), MERNUM MER0000832
History Identifier created: Handbook of Proteolytic Enzymes (1998) Academic Press, London.
Catalytic typeCysteine
PeplistIncluded in the Peplist with identifier PL00094
NC-IUBMBNot yet included in IUBMB recommendations.
Activity statushuman: active (Wilkinson, 2004)
mouse: active (by similarity to rat) (Kajimoto et al., 1992)
PhysiologyRepresents 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.
KnockoutIn 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 KEGGParkinson's disease
Other databases WIKIPEDIA
Human genetics
Gene symbol Locus Megabases Ensembl Entrez gene Gene Cards OMIM
UCHL1 4p14 ENSG00000154277 7345 UCHL1 191342
Mouse genetics
Gene symbol Position Megabases Ensembl Entrez gene MGI
Uchl1 5:D ENSMUSG00000029223 22223 MGI:103149