InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SNCA

Summary

InnateDB Protein

IDBP-240462.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SNCA

Protein Name

synuclein, alpha (non A4 component of amyloid precursor)

Synonyms

NACP; PARK1; PARK4; PD1;

Species

Homo sapiens

Ensembl Protein

ENSP00000378437

InnateDB Gene

IDBG-30077 (SNCA)

Protein Structure

UniProt Annotation

Function

May be involved in the regulation of dopamine release and transport. Induces fibrillization of microtubule-associated protein tau. Reduces neuronal responsiveness to various apoptotic stimuli, leading to a decreased caspase-3 activation.

Subcellular Localization

Cytoplasm. Membrane. Nucleus. Cell junction, synapse. Note=Membrane-bound in dopaminergic neurons.

Disease Associations

Note=Genetic alterations of SNCA resulting in aberrant polymerization into fibrils, are associated with several neurodegenerative diseases (synucleinopathies). SNCA fibrillar aggregates represent the major non A-beta component of Alzheimer disease amyloid plaque, and a major component of Lewy body inclusions. They are also found within Lewy body (LB)-like intraneuronal inclusions, glial inclusions and axonal spheroids in neurodegeneration with brain iron accumulation type 1.Parkinson disease 1 (PARK1) [MIM:168601]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease 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. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. {ECO:0000269PubMed:23427326, ECO:0000269PubMed:23457019, ECO:0000269PubMed:9197268, ECO:0000269PubMed:9462735}. Note=The disease is caused by mutations affecting the gene represented in this entry.Parkinson disease 4 (PARK4) [MIM:605543]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.Dementia Lewy body (DLB) [MIM:127750]: A neurodegenerative disorder characterized by mental impairment leading to dementia, parkinsonism, fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Brainstem or cortical intraneuronal accumulations of aggregated proteins (Lewy bodies) are the only essential pathologic features. Patients may also have hippocampal and neocortical senile plaques, sometimes in sufficient number to fulfill the diagnostic criteria for Alzheimer disease. {ECO:0000269PubMed:14755719}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 384 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.

Experimentally validated
Total	384 [view]
Protein-Protein	380 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	4 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	13 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000287	magnesium ion binding
GO:0005507	copper ion binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008198	ferrous iron binding
GO:0008270	zinc ion binding
GO:0016491	oxidoreductase activity
GO:0019894	kinesin binding
GO:0030544	Hsp70 protein binding
GO:0042393	histone binding
GO:0042802	identical protein binding
GO:0043014	alpha-tubulin binding
GO:0043027	cysteine-type endopeptidase inhibitor activity involved in apoptotic process
GO:0045502	dynein binding
GO:0048156	tau protein binding
GO:0051219	phosphoprotein binding

Biological Process

GO:0001921	positive regulation of receptor recycling
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0010040	response to iron(II) ion
GO:0010517	regulation of phospholipase activity
GO:0010642	negative regulation of platelet-derived growth factor receptor signaling pathway
GO:0014059	regulation of dopamine secretion
GO:0031115	negative regulation of microtubule polymerization
GO:0031623	receptor internalization
GO:0031648	protein destabilization
GO:0032026	response to magnesium ion
GO:0032410	negative regulation of transporter activity
GO:0032496	response to lipopolysaccharide
GO:0032769	negative regulation of monooxygenase activity
GO:0033138	positive regulation of peptidyl-serine phosphorylation
GO:0034341	response to interferon-gamma
GO:0035067	negative regulation of histone acetylation
GO:0042416	dopamine biosynthetic process
GO:0043066	negative regulation of apoptotic process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043206	extracellular fibril organization
GO:0045087	innate immune response (InnateDB)
GO:0045807	positive regulation of endocytosis
GO:0045920	negative regulation of exocytosis
GO:0048488	synaptic vesicle endocytosis
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol
GO:0051583	dopamine uptake involved in synaptic transmission
GO:0051585	negative regulation of dopamine uptake involved in synaptic transmission
GO:0051612	negative regulation of serotonin uptake
GO:0051622	negative regulation of norepinephrine uptake
GO:0055114	oxidation-reduction process
GO:0060732	positive regulation of inositol phosphate biosynthetic process
GO:0070495	negative regulation of thrombin receptor signaling pathway
GO:0070555	response to interleukin-1
GO:0071280	cellular response to copper ion
GO:0071872	cellular response to epinephrine stimulus
GO:0071902	positive regulation of protein serine/threonine kinase activity
GO:1901214	regulation of neuron death

Cellular Component

GO:0005576	extracellular region
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005764	lysosome
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0005938	cell cortex
GO:0015629	actin cytoskeleton
GO:0016234	inclusion body
GO:0030054	cell junction
GO:0030424	axon
GO:0030426	growth cone
GO:0031092	platelet alpha granule membrane
GO:0043205	fibril
GO:0048471	perinuclear region of cytoplasm