gptkbp:instanceOf
|
gptkb:gene
|
gptkbp:alternativeName
|
gptkb:PARK4
gptkb:NACP
gptkb:PARK1
|
gptkbp:associatedWith
|
gptkb:Parkinson's_disease
Lewy body dementia
|
gptkbp:discoveredBy
|
gptkb:Spillantini_et_al.
|
gptkbp:discoveredIn
|
1997
|
gptkbp:encodes
|
gptkb:alpha-synuclein
|
gptkbp:Entrez_Gene_ID
|
6622
|
gptkbp:expressedIn
|
gptkb:cerebral_cortex
gptkb:spinal_cord
gptkb:cerebellum
brain
substantia nigra
hippocampus
peripheral nervous system
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
gptkbp:function
|
neuronal plasticity
synaptic vesicle regulation
|
gptkbp:geneType
|
protein-coding
|
gptkbp:hasTranscriptVariant
|
multiple
|
gptkbp:HGNC_ID
|
11138
|
https://www.w3.org/2000/01/rdf-schema#label
|
SNCA
|
gptkbp:interactsWith
|
gptkb:14-3-3_proteins
gptkb:tau_protein
ubiquitin
|
gptkbp:involvedIn
|
neurodegeneration
protein aggregation
Lewy body formation
|
gptkbp:length
|
140 amino acids
|
gptkbp:locatedOnChromosome
|
4
4q22.1
|
gptkbp:mutationAssociatedWith
|
gptkb:familial_Parkinson's_disease
missense
duplication
triplication
|
gptkbp:OMIM
|
163890
|
gptkbp:orthologInMouse
|
gptkb:Snca
|
gptkbp:postTranslationalModification
|
phosphorylation
sumoylation
ubiquitination
acetylation
nitration
|
gptkbp:product
|
gptkb:alpha-synuclein
|
gptkbp:proteinFamily
|
gptkb:NAC_domain
gptkb:synuclein_family
C-terminal acidic region
N-terminal amphipathic region
|
gptkbp:relatedTo
|
synucleinopathies
|
gptkbp:UniProtID
|
gptkb:P37840
|
gptkbp:bfsParent
|
gptkb:chromosome_4
|
gptkbp:bfsLayer
|
6
|