PGP9.5 est un gène codé par le symbole UCHL1. Communément appelé aussi: Ubiquitin carboxyl-terminal hydrolase isozyme L1; UCH-L1; Neuron cytoplasmic protein 9.5; PGP 9.5; Ubiquitin thioesterase L1; UCHL1. PGP9.5 a une masse de 24.82kDa, une longueur d'acide aminé de 223, et est impliqué dans les maladies: Parkinson disease 5; Spastic paraplegia 79, autosomal recessive.
Nous proposons 49 des anticorps contre PGP9.5, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF, Cytométrie en Flux et ChIP avec des échantillons dérivés de Humain, Souris, Rat, Bovin, Porcin, Lapin, Mouton, Canin, Donkey, Cochon d'Inde et Poisson Zèbre.
Informations sur les Gènes et les Protéines
Résumé UniProt
Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins (Probable). This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin (PubMed:9774100, PubMed:8639624, PubMed:12408865, PubMed:23359680). Also binds to free monoubiquitin and may prevent its degradation in lysosomes (By similarity). The homodimer may have ATP-independent ubiquitin ligase activity (PubMed:12408865).
Résumé Entrez
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.
Spécificité tissulaire
Found in neuronal cell bodies and processes throughout the neocortex (at protein level). 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.
Implication dans la maladie
Parkinson disease 5: A complex neurodegenerative disorder with manifestations ranging from typical Parkinson disease to dementia with Lewy bodies. Clinical features include parkinsonian symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body pathology, autonomic dysfunction, hallucinations and paranoia.
Spastic paraplegia 79, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG79 is characterized by childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfunction, and spasticity with upper motor neuron dysfunction.
Similitudes de séquence
Belongs to the peptidase C12 family.
Modification post-traductionnelle
O-glycosylated.
Localisation cellulaire
Cytoplasm. Endoplasmic reticulum membrane.
About 30% of total UCHL1 is associated with membranes in brain.
