ubh-1 encodes a putative ubiquitin C-terminal hydrolase orthologous to human UCHL1, that catalyzes the hydrolysis of C-terminal ubiquitinyl esters; C. elegans has three ubiquitin C-terminal hydrolase orthologs-ubh-1, ubh-2 and ubh-3; studies indicate that the ubh genes maybe be involved in aging, as they play a role in cellular senescence.
Enables deNEDDylase activity and deubiquitinase activity. Involved in negative regulation of dauer larval development; positive regulation of transforming growth factor beta receptor signaling pathway; and protein deneddylation. Predicted to be located in cytoplasm. Expressed in amphid neurons and intestinal cell. Used to study Parkinson's disease. Human ortholog(s) of this gene implicated in Alzheimer's disease; Parkinson's disease; and hereditary spastic paraplegia (multiple). Is an ortholog of human UCHL1 (ubiquitin C-terminal hydrolase L1) and UCHL3 (ubiquitin C-terminal hydrolase L3).
Inferred by orthology to human genes with DO annotation (HGNC:12513)
Disease_relevance
Mutations in human ubiquitin C-terminal hydrolase L1 (UCHL1/PARK5; neuron specific) are associated with Parkinson''s disease (PD); UCH-L1 protects against protein aggregation disorders such as Alzheimer disease and PD and is part of the ubiquitin proteasome system; C. elegans is used as a model system to study the genetic interactions and molecular functions of PARK protein orthologs; studies that knock-down the ubh genes in elegans (ubh-1, ubh-2, ubh-3) indicate that they are involved in cellular senescence and thus aging.
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.