InnateDB Protein
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IDBP-240460.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SNCA
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Protein Name
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synuclein, alpha (non A4 component of amyloid precursor)
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Synonyms
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NACP; PARK1; PARK4; PD1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000378440
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InnateDB Gene
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IDBG-30077 (SNCA)
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Protein Structure
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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.
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Subcellular Localization |
Cytoplasm. Membrane. Nucleus. Cell junction, synapse. Note=Membrane-bound in dopaminergic neurons.
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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.
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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.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
380
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
4
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
13 [view]
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Molecular Function |
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Biological Process |
GO:0001921
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positive regulation of receptor recycling
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GO:0006919
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activation of cysteine-type endopeptidase activity involved in apoptotic process
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GO:0010040
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response to iron(II) ion
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GO:0010517
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regulation of phospholipase activity
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GO:0010642
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negative regulation of platelet-derived growth factor receptor signaling pathway
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GO:0014059
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regulation of dopamine secretion
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GO:0031115
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negative regulation of microtubule polymerization
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GO:0031623
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receptor internalization
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GO:0031648
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protein destabilization
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GO:0032026
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response to magnesium ion
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GO:0032410
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negative regulation of transporter activity
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GO:0032496
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response to lipopolysaccharide
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GO:0032769
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negative regulation of monooxygenase activity
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GO:0033138
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positive regulation of peptidyl-serine phosphorylation
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GO:0034341
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response to interferon-gamma
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GO:0035067
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negative regulation of histone acetylation
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GO:0042416
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dopamine biosynthetic process
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GO:0043066
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negative regulation of apoptotic process
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GO:0043154
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negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
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GO:0043206
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extracellular fibril organization
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GO:0045087
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innate immune response (InnateDB)
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GO:0045807
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positive regulation of endocytosis
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GO:0045920
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negative regulation of exocytosis
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GO:0048488
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synaptic vesicle endocytosis
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GO:0051281
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positive regulation of release of sequestered calcium ion into cytosol
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GO:0051583
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dopamine uptake involved in synaptic transmission
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GO:0051585
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negative regulation of dopamine uptake involved in synaptic transmission
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GO:0051612
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negative regulation of serotonin uptake
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GO:0051622
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negative regulation of norepinephrine uptake
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GO:0055114
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oxidation-reduction process
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GO:0060732
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positive regulation of inositol phosphate biosynthetic process
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GO:0070495
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negative regulation of thrombin receptor signaling pathway
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GO:0070555
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response to interleukin-1
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GO:0071280
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cellular response to copper ion
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GO:0071872
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cellular response to epinephrine stimulus
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GO:0071902
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positive regulation of protein serine/threonine kinase activity
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GO:1901214
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regulation of neuron death
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Cellular Component |
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PDB ID |
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InterPro |
IPR001058
Synuclein
IPR002460
Alpha-synuclein
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PFAM |
PF01387
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PRINTS |
PR01211
PR01212
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P37840
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PhosphoSite |
PhosphoSite-P37840
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TrEMBL |
H6UYS0
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UniProt Splice Variant |
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Entrez Gene |
6622
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UniGene |
Hs.604559
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RefSeq |
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HUGO |
HGNC:11138
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OMIM |
163890
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CCDS |
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HPRD |
01227
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IMGT |
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EMBL |
AF163864
AK290169
AY049786
BC013293
BC108275
CH471057
CR457058
D31839
DQ088379
JN709859
JN709862
JN709865
JN709868
L08850
L36674
L36675
U46897
U46898
U46899
U46901
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GenPept |
AAA16117
AAA98487
AAA98493
AAC02114
AAG30302
AAG30303
AAH13293
AAI08276
AAL15443
AAY88735
AFA25669
AFA25672
AFA25675
AFA25678
BAA06625
BAF82858
CAG33339
EAX06035
EAX06036
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