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VPS35 Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors (IGF2R and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA). Defects in VPS35 are the cause of Parkinson disease type 17 (PARK17). PARK17 is an autosomal dominant, adult- onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. Belongs to the VPS35 family. Note: This description may include information from UniProtKB.
Protein type: Vesicle
Chromosomal Location of Human Ortholog: 16q11.2
Cellular Component: cell soma; cytosol; early endosome; endosome; endosome membrane; late endosome; lysosomal membrane; lysosome; mitochondrion; neuron projection; perinuclear region of cytoplasm; postsynaptic density; retromer complex
Molecular Function: D1 dopamine receptor binding; protein binding; protein transporter activity
Biological Process: lysosome organization and biogenesis; mitochondrial fragmentation involved in apoptotic process; negative regulation of inflammatory response; negative regulation of protein homooligomerization; positive regulation of dopamine receptor signaling pathway; protein destabilization; protein localization in organelle; regulation of cellular protein metabolic process; regulation of macroautophagy; regulation of protein stability; retrograde transport, endosome to Golgi; transcytosis; voluntary musculoskeletal movement; Wnt signaling pathway
Disease: Parkinson Disease 17
Reference #:  Q96QK1 (UniProtKB)
Alt. Names/Synonyms: DKFZp434E1211; DKFZp434P1672; FLJ10752; FLJ13588; FLJ20388; hVPS35; Maternal-embryonic 3; MEM3; vacuolar protein sorting 35 homolog (S. cerevisiae); Vacuolar protein sorting-associated protein 35; Vesicle protein sorting 35; VPS35
Gene Symbols: VPS35
Molecular weight: 91,707 Da
Basal Isoelectric point: 5.32  Predict pI for various phosphorylation states
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