|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:associatedWith
|
gptkb:Parkinson's_disease
|
|
gptkbp:discoveredBy
|
Mizuno et al.
|
|
gptkbp:discoveredIn
|
1998
|
|
gptkbp:domain
|
gptkb:IBR_domain
RING finger domain
Ubiquitin-like domain
|
|
gptkbp:encodedBy
|
gptkb:PARK2_gene
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000185345
5071
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
|
|
gptkbp:function
|
E3 ubiquitin ligase
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:8607
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Parkin (PARK2)
|
|
gptkbp:interactsWith
|
gptkb:alpha-synuclein
gptkb:DJ-1
gptkb:PINK1
ubiquitin
|
|
gptkbp:involvedIn
|
ubiquitin-proteasome system
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_6
|
|
gptkbp:molecularWeight
|
52 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:early-onset_Parkinson's_disease
gptkb:juvenile_Parkinsonism
nonsense
deletion
missense
duplication
neurodegeneration
frameshift
autosomal recessive juvenile Parkinsonism
autosomal recessive Parkinsonism
|
|
gptkbp:OMIM
|
602544
|
|
gptkbp:orthologIn
|
gptkb:mouse
gptkb:zebrafish
right
|
|
gptkbp:regulates
|
apoptosis
inflammation
cell cycle
protein degradation
neuronal survival
oxidative stress response
mitochondrial quality control
mitophagy
cellular response to stress
synaptic function
dopaminergic neuron maintenance
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
gptkb:cytoplasm
mitochondria
|
|
gptkbp:UniProtID
|
O60260
|
|
gptkbp:bfsParent
|
gptkb:D010141
|
|
gptkbp:bfsLayer
|
7
|