Ubiquitin carboxy-terminal hydrolase L1
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Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) (EC 3.1.2.15) is a deubiqutinating enzyme. UCHL1 is a member of a gene family whose products hydrolyze small C-terminal adducts of ubiquitin to generate the ubiquitin monomer. Expression of UCHL1 is highly specific to neurons and to cells of the diffuse neuroendocrine system and their tumors. It is present in all neurons (Doran et al., 1983).[supplied by OMIM][1]
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[edit] Pathology
A point mutation (I93M) in the gene encoding this protein is implicated as the cause of Parkinson's disease in one kindred.
Furthermore, a polymorphism (S18Y) in this gene has been found to be associated with a reduced risk for Parkinson's disease.
The gene is also associated with the Alzheimer's disease, and required for normal synaptic and cognitive function. (Gong. et al 2006)[2]
[edit] See also
- Ubiquitin carboxyl-terminal esterase L3 -- the gene UCHL3
[edit] References
- ^ Entrez Gene: UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase).
- ^ Gong,B, Cao,Z Zheng,P, Vitolo,O.P, Liu,S Staniszewski,A, Moolman,D Zhang,H Shelanski,M, and Arancio,O "Ubiquitin Hydrolase Uch-L1 Rescues β-Amyloid-Induced Decreases in Synaptic Function and Contextual Memory", Cell, Vol 126, 775-788, 25 August 2006
[edit] Further reading
- Healy DG, Abou-Sleiman PM, Wood NW (2005). "Genetic causes of Parkinson's disease: UCHL-1.". Cell Tissue Res. 318 (1): 189-94. doi:. PMID 15221445.
- Rasmussen HH, van Damme J, Puype M, et al. (1993). "Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes.". Electrophoresis 13 (12): 960-9. PMID 1286667.
- Edwards YH, Fox MF, Povey S, et al. (1992). "The gene for human neurone specific ubiquitin C-terminal hydrolase (UCHL1, PGP9.5) maps to chromosome 4p14.". Ann. Hum. Genet. 55 (Pt 4): 273-8. PMID 1840236.
- Honoré B, Rasmussen HH, Vandekerckhove J, Celis JE (1991). "Neuronal protein gene product 9.5 (IEF SSP 6104) is expressed in cultured human MRC-5 fibroblasts of normal origin and is strongly down-regulated in their SV40 transformed counterparts.". FEBS Lett. 280 (2): 235-40. doi:. PMID 1849484.
- Day IN, Hinks LJ, Thompson RJ (1990). "The structure of the human gene encoding protein gene product 9.5 (PGP9.5), a neuron-specific ubiquitin C-terminal hydrolase.". Biochem. J. 268 (2): 521-4. PMID 2163617.
- Day IN, Thompson RJ (1987). "Molecular cloning of cDNA coding for human PGP 9.5 protein. A novel cytoplasmic marker for neurones and neuroendocrine cells.". FEBS Lett. 210 (2): 157-60. doi:. PMID 2947814.
- Doran JF, Jackson P, Kynoch PA, Thompson RJ (1983). "Isolation of PGP 9.5, a new human neurone-specific protein detected by high-resolution two-dimensional electrophoresis.". J. Neurochem. 40 (6): 1542-7. doi:. PMID 6343558.
- Onno M, Nakamura T, Mariage-Samson R, et al. (1993). "Human TRE17 oncogene is generated from a family of homologous polymorphic sequences by single-base changes.". DNA Cell Biol. 12 (2): 107-18. PMID 8471161.
- Larsen CN, Price JS, Wilkinson KD (1996). "Substrate binding and catalysis by ubiquitin C-terminal hydrolases: identification of two active site residues.". Biochemistry 35 (21): 6735-44. doi:. PMID 8639624.
- Best CL, Pudney J, Welch WR, et al. (1996). "Localization and characterization of white blood cell populations within the human ovary throughout the menstrual cycle and menopause.". Hum. Reprod. 11 (4): 790-7. PMID 8671330.
- D'Andrea V, Malinovsky L, Berni A, et al. (1998). "The immunolocalization of PGP 9.5 in normal human kidney and renal cell carcinoma.". Il Giornale di chirurgia 18 (10): 521-4. PMID 9435142.
- Larsen CN, Krantz BA, Wilkinson KD (1998). "Substrate specificity of deubiquitinating enzymes: ubiquitin C-terminal hydrolases.". Biochemistry 37 (10): 3358-68. doi:. PMID 9521656.
- Leroy E, Boyer R, Auburger G, et al. (1998). "The ubiquitin pathway in Parkinson's disease.". Nature 395 (6701): 451-2. doi:. PMID 9774100.
- Wada H, Kito K, Caskey LS, et al. (1998). "Cleavage of the C-terminus of NEDD8 by UCH-L3.". Biochem. Biophys. Res. Commun. 251 (3): 688-92. doi:. PMID 9790970.
- Leroy E, Boyer R, Polymeropoulos MH (1999). "Intron-exon structure of ubiquitin c-terminal hydrolase-L1.". DNA Res. 5 (6): 397-400. PMID 10048490.
- Lincoln S, Vaughan J, Wood N, et al. (1999). "Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease.". Neuroreport 10 (2): 427-9. doi:. PMID 10203348.
- Harhangi BS, Farrer MJ, Lincoln S, et al. (1999). "The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.". Neurosci. Lett. 270 (1): 1-4. doi:. PMID 10454131.
- Saigoh K, Wang YL, Suh JG, et al. (1999). "Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice.". Nat. Genet. 23 (1): 47-51. doi:. PMID 10471497.
- Mellick GD, Silburn PA (2000). "The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease.". Neurosci. Lett. 293 (2): 127-30. doi:. PMID 11027850.
- Sharma N, McLean PJ, Kawamata H, et al. (2002). "Alpha-synuclein has an altered conformation and shows a tight intermolecular interaction with ubiquitin in Lewy bodies.". Acta Neuropathol. 102 (4): 329-34. PMID 11603807.
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