SNCA

SNCA ;
NACP ;
PARK1 ;
Alpha-synuclein ;
Non-A beta component of AD amyloid ;
Non-A4 component of amyloid precursor ;
NACP

alternative products:Additional isoforms seem to exist ,disease:Brain iron accumulation type 1 (NBIA1 , also called Hallervorden-Spatz syndrome) , a rare neuroaxonal dystrophy , is histologically characterized by axonal spheroids , iron deposition , Lewy body (LB) -like intraneuronal inclusions , glial inclusions and neurofibrillary tangles. SNCA is found in LB-like inclusions , glial inclusions and spheroids. ,disease:Defects in SNCA are a cause of autosomal dominant Parkinson disease 1 (PARK1) [MIM:168601 , 168600]. Parkinson disease (PD) is a complex , multifactorial disorder that typically manifests after the age of 50 years , although early-onset cases (before 50 years) are known. PD generally arises as a sporadic condition but is occasionally inherited as a simple mendelian trait. Although sporadic and familial PD are very similar , inherited forms of the disease usually begin at earlier ages and are associated with atypical clinical features. PD is 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. ,disease:Defects in SNCA are the cause of Lewy body dementia (DLB) [MIM:127750]. DLB is a neurodegenerative disorder clinically characterized by dementia and parkinsonism , often with fluctuating cognitive function , visual hallucinations , falls , syncopal episodes , and sensitivity to neuroleptic medication. Presence of Lewy bodies are the only essential pathologic features. ,disease:Defects in SNCA are the cause of Parkinson disease 4 (PARK4) [MIM:605543 , 168600]. ,disease:Deposition of fibrillar amyloid proteins intraneuronally as neurofibrillary tangles is characteristic of Alzheimer disease (AD) . SNCA is a minor protein found within these deposits , but a major non amyloid component. ,domain:The NAC domain is involved in the fibril formation. The middle region forms the core of the filaments. The C-terminus may regulate aggregation and determine the diameter of the filaments. ,function:May be involved in the regulation of dopamine release and transport. Soluble protein , normally localized primarily at the presynaptic region of axons , which can form filamentous aggregates that are the major non amyloid component of intracellular inclusions in several neurodegenerative diseases (synucleinopathies) . Induces fibrillization of microtubule-associated protein tau. Reduces neuronal responsiveness to various apoptotic stimuli , leading to a decreased caspase-3 activation. ,PTM:Hallmark lesions of neurodegenerative synucleinopathies contain alpha-synuclein that is modified by nitration of tyrosine residues and possibly by dityrosine cross-linking to generated stable oligomers. ,PTM:Phosphorylated , predominantly on serine residues. Phosphorylation by CK1 appears to occur on residues distinct from the residue phosphorylated by other kinases. Phosphorylation of Ser-129 is selective and extensive in synucleinopathy lesions. In vitro , phosphorylation at Ser-129 promoted insoluble fibril formation. Phosphorylated on Tyr-125 by a PTK2B-dependent pathway upon osmotic stress. ,PTM:Ubiquitinated. The predominant conjugate is the diubiquitinated form. ,similarity:Belongs to the synuclein family. ,subcellular location:Membrane-bound in dopaminergic neurons. Also found in the nucleus. ,subunit:Soluble monomer which can form filamentous aggregates. Interacts with UCHL1 (By similarity) . Interacts with phospholipase D and histones. ,tissue specificity:Expressed principally in brain but is also expressed in low concentrations in all tissues examined except in liver. Concentrated in presynaptic nerve terminals. ,

microglial cell activation , cell activation , regulation of receptor recycling , positive regulation of receptor recycling ,positive regulation of neurotransmitter secretion , synaptic transmission , dopaminergic , response to molecule of bacterial origin , myeloid leukocyte activation , regulation of leukocyte activation , generation of precursor metabolites and energy , oxidative phosphorylation , cellular amino acid derivative metabolic process , biogenic amine metabolic process , catecholamine metabolic process , fatty acid metabolic process , neutral lipid metabolic process , phospholipid metabolic process , phosphorus metabolic process , phosphate metabolic process , cellular ion homeostasis ,endocytosis , receptor-mediated endocytosis , anti-apoptosis , defense response , immune response , response to oxidative stress , mitochondrion organization , mitochondrial membrane organization , cell-cell signaling , synaptic transmission , nerve-nerve synaptic transmission , behavior , locomotory behavior , adult locomotory behavior , amine biosynthetic process , response to bacterium , catechol metabolic process , response to organic substance , response to inorganic substance , response to metal ion , response to iron ion , response to iron (II) ion , membrane invagination ,negative regulation of peptidase activity , regulation of cellular ketone metabolic process , positive regulation of macromolecule metabolic process , negative regulation of macromolecule metabolic process , negative regulation of organelle organization , positive regulation of cell communication , regulation of cell death , regulation of glutamate secretion , regulation of dopamine secretion , energy derivation by oxidation of organic compounds , membrane organization , vesicle-mediated transport , phosphorylation , phenol metabolic process , regulation of lipid metabolic process , regulation of fatty acid metabolic process , transmission of nerve impulse , organophosphate metabolic process , cellular homeostasis , electron transport chain , respiratory electron transport chain , regulation of endocytosis ,adult behavior , regulation of histone modification , negative regulation of histone modification , regulation of protein modification process , negative regulation of protein modification process , receptor internalization , regulation of neurological system process , positive regulation of neurological system process , response to magnesium ion ,regulation of cellular protein metabolic process , negative regulation of cellular protein metabolic process , regulation of transporter activity , negative regulation of transporter activity , response to lipopolysaccharide , regulation of monooxygenase activity , negative regulation of monooxygenase activity , regulation of organelle organization ,regulation of chromosome organization , cellular response to stress , response to cytokine stimulus , diol metabolic process , response to interferon-gamma , cellular response to oxidative stress , regulation of histone acetylation ,negative regulation of histone acetylation , regulation of locomotion , macrophage activation , regulation of membrane potential , cellular amino acid derivative biosynthetic process , biogenic amine biosynthetic process , dopamine biosynthetic process , dopamine metabolic process , catecholamine biosynthetic process , response to drug ,homeostatic process , ATP synthesis coupled electron transport , mitochondrial ATP synthesis coupled electron transport , regulation of apoptosis , regulation of macrophage activation , negative regulation of apoptosis , regulation of programmed cell death , negative regulation of programmed cell death , negative regulation of catalytic activity ,receptor metabolic process , negative regulation of caspase activity , regulation of caspase activity , regulation of neuron apoptosis , negative regulation of neuron apoptosis , regulation of system process , negative regulation of molecular function , nitrogen compound biosynthetic process , innate immune response , leukocyte activation , cellular respiration , positive regulation of endocytosis , regulation of neurotransmitter secretion , regulation of synaptic plasticity , regulation of neuronal synaptic plasticity , regulation of long-term neuronal synaptic plasticity , synaptic vesicle endocytosis , synaptic vesicle transport , chemical homeostasis , regulation of catecholamine secretion , ion homeostasis , regulation of synaptic transmission , positive regulation of synaptic transmission , regulation of acyl-CoA biosynthetic process , regulation of cell activation , neurological system process , regulation of secretion , positive regulation of secretion , positive regulation of transport , negative regulation of transport , negative regulation of cellular component organization , positive regulation of cellular component organization , regulation of cofactor metabolic process , regulation of coenzyme metabolic process , positive regulation of multicellular organismal process ,negative regulation of protein metabolic process , regulation of hydrolase activity , regulation of oxidoreductase activity ,negative regulation of hydrolase activity , negative regulation of oxidoreductase activity , regulation of neurotransmitter uptake , negative regulation of neurotransmitter uptake , regulation of neurotransmitter transport , negative regulation of neurotransmitter transport , positive regulation of neurotransmitter transport , regulation of serotonin uptake ,negative regulation of serotonin uptake , membrane depolarization , regulation of amine transport , negative regulation of amine transport , regulation of transmission of nerve impulse , positive regulation of transmission of nerve impulse ,regulation of peptidase activity , regulation of endopeptidase activity , cellular chemical homeostasis , oxidation reduction , regulation of postsynaptic membrane potential , regulation of excitatory postsynaptic membrane potential ,long-term synaptic potentiation , regulation of cellular localization , negative regulation of cell death , regulation of vesicle-mediated transport , response to interleukin-1 ,

Cytoplasm . Membrane . Nucleus . Cell junction , synapse . Secreted . Cell projection , axon . Membrane-bound in dopaminergic neurons (PubMed:15282274) . Expressed and colocalized with SEPTIN4 in dopaminergic axon terminals , especially at the varicosities (By similarity) . .