| Gene Symbol |
UCHL1
|
| Gene Synonyms |
NDGOA PARK5 PGP95 SPG79 PGP9.5 SPG79A UCHL-1 Uch-L1 HEL-117 PGP 9.5 HEL-S-53 |
| Gene Full Name |
ubiquitin C-terminal hydrolase L1 |
| Gene Summary |
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] |
| Molecular Weight(MW) |
26 kDa(Observed band size: kDa) |
| Function |
PGP9.5 (Protein gene product 9.5, UCH-L1, PARK5) is a neuron specific protein, structurally and immunologically distinct from neuron specific enolase. PGP9.5 has a molecular weight of 27 kDa and was first identified by high resolution two dimensional PAGE. PGP9.5 is a member of ubiquitin carboxyl-terminal hydrolase family 1 (peptidase family C12) with a ubiquitin carboxyl-terminal hydrolase domain. PGP9.5 is well known for having ubiquitin hydrolase and ligase activities that hydrolyzes small C-terminal adducts of ubiquitin to generate ubiquitin monomers. PGP9.5 is present in neurons and nerve fibers at all levels of the central and peripheral nervous system, in neuroendocrine cells, in segments of the renal tubules, in spermatogonia and Leydig cells of the testis, in ova and in some cells of both the pregnant and non-pregnant corpus luteum. Over expression of PGP9.5 leads to non-small cell lung cancer while decreased expression leads to Huntington disease and Alzheimer disease. Since PGP9.5 is present in cellular inclusions, it can be a useful as a neuronal marker and in the studies of neurodegenerative disorders such as with Parkinson disease. |
| Cellular Localization |
Cytoplasm,Endoplasmic reticulum,Membrane |