|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:PARK4
gptkb:NACP
gptkb:PARK1
|
|
gptkbp:associatedWith
|
gptkb:Parkinson's_disease
gptkb:multiple_system_atrophy
Lewy body dementia
|
|
gptkbp:biologicalProcess
|
involved in neurodegenerative disease
modulates synaptic plasticity
|
|
gptkbp:chromosomeArm
|
q
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for Parkinson's disease
|
|
gptkbp:discoveredBy
|
gptkb:Spillantini_et_al.
|
|
gptkbp:discoveredIn
|
1997
|
|
gptkbp:encodes
|
gptkb:alpha-synuclein
|
|
gptkbp:Entrez_Gene_ID
|
6622
ENSG00000145335
|
|
gptkbp:expressedIn
|
brain
substantia nigra
neurons
|
|
gptkbp:fullName
|
gptkb:synuclein_alpha
|
|
gptkbp:function
|
neurotransmitter release
regulation of synaptic vesicle trafficking
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
SNCA-001
SNCA-002
SNCA-003
|
|
gptkbp:HGNC_ID
|
11138
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SNCA gene
|
|
gptkbp:length
|
6 exons
140 amino acids
|
|
gptkbp:locatedOnChromosome
|
4
4q22.1
|
|
gptkbp:location
|
gptkb:nucleus
gptkb:cytoplasm
presynaptic terminals
|
|
gptkbp:mutationAssociatedWith
|
gptkb:familial_Parkinson's_disease
missense
duplication
triplication
|
|
gptkbp:OMIM
|
163890
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:mouse_Snca
gptkb:rat_Snca
|
|
gptkbp:pathway
|
gptkb:Parkinson's_disease_pathway
gptkb:synaptic_vesicle_cycle
neurodegeneration
|
|
gptkbp:product
|
gptkb:alpha-synuclein
intrinsically disordered protein
|
|
gptkbp:proteinAggregation
|
forms Lewy bodies
|
|
gptkbp:proteinFamily
|
gptkb:synuclein_family
|
|
gptkbp:symbol
|
gptkb:SNCA
|
|
gptkbp:UniProtID
|
gptkb:P37840
|
|
gptkbp:bfsParent
|
gptkb:alpha-synuclein
gptkb:Parkinson_disease_(ORPHA:411)
gptkb:SNCA_gene_mutation
|
|
gptkbp:bfsLayer
|
7
|