SYUA_HUMAN
Source:
hRBCD
; ID:
IPI00024107
PM19886704
PM23856902
PM22954596
Marked as 'Membrane associated protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
SNCA
, NACP, PARK1
Protein names and data:
SYUA_HUMAN
, Alpha-synuclein
, Non-A beta component of AD amyloid; Non-A4 component of amyloid precursor; NACP
Lenght: 140 a.a.
Mass: 14460 Da
fasta formatted sequence
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.
Disease:
( OMIM:
127750
163890
168600
168601
605543
)
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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Membrane. Nucleus. Cell junction, synapse. Note=Membrane-bound in dopaminergic neurons.
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.
Genetic variants
30 - 30
A -> P (in PARK1). VAR_007957
46 - 46
E -> K (in PARK1 and DLB; significant increase in binding to negatively charged phospholipid liposomes). VAR_022703
50 - 50
H -> Q (in PARK1; impairs copper- binding). VAR_070171
53 - 53
A -> T (in PARK1; no effect on osmotic stress-induced phosphorylation). VAR_007454
Database cross-references
UniProt:
P37840
Ensembl:
ENST00000336904
Ensembl:
ENST00000345009
Ensembl:
ENST00000394986
Ensembl:
ENST00000394989
Ensembl:
ENST00000394991
Ensembl:
ENST00000420646
Ensembl:
ENST00000505199
Ensembl:
ENST00000506244
Ensembl:
ENST00000508895
MIM:
127750
MIM:
163890
MIM:
168600
MIM:
168601
MIM:
605543
neXtProt:
NX_P37840
Antibodypedia:
P37840
(may not find the protein thus also not any antibody)
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