Protein Gene Product 9.5 (UCHL1) ELISA Kit for Human

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]

UCHL1: 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. Monomer. Homodimer. Interacts with SNCA. Interacts with COPS5. Found in neuronal cell bodies and processes throughout the neocortex. Expressed in neurons and cells of the diffuse neuroendocrine system and their tumors. Weakly expressed in ovary. Down-regulated in brains from Parkinson disease and Alzheimer disease patients. Belongs to the peptidase C12 family.

Protein type: Cell development/differentiation; EC 3.4.19.12; Ligase; Protease; Ubiquitin conjugating system

Chromosomal Location of Human Ortholog: 4p13

Cellular Component: axon cytoplasm; cell soma; cytoplasm; cytosol; endoplasmic reticulum membrane; extracellular exosome; myelin sheath; neuron projection terminus; nucleoplasm; plasma membrane

Molecular Function: alpha-2A adrenergic receptor binding; cysteine-type endopeptidase activity; ligase activity; omega peptidase activity; protein binding; thiol-dependent ubiquitin-specific protease activity; thiol-dependent ubiquitinyl hydrolase activity; ubiquitin binding; ubiquitin protein ligase binding

Biological Process: adult walking behavior; axon target recognition; axonal transport of mitochondrion; cell proliferation; eating behavior; muscle fiber development; negative regulation of MAP kinase activity; neuromuscular process; proteasomal ubiquitin-dependent protein catabolic process; protein deubiquitination; regulation of macroautophagy; sensory perception of pain

Disease: Neurodegeneration With Optic Atrophy, Childhood-onset; Parkinson Disease 5, Autosomal Dominant