|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:PARK2
parkin
|
|
gptkbp:associatedWith
|
gptkb:Parkinson's_disease
autosomal recessive juvenile Parkinsonism
|
|
gptkbp:biologicalProcess
|
protein degradation
mitophagy
|
|
gptkbp:discoveredBy
|
gptkb:Japanese_research_group_led_by_Dr._Nobutaka_Hattori
|
|
gptkbp:discoveredIn
|
1998
|
|
gptkbp:encodes
|
gptkb:parkin_protein
|
|
gptkbp:Entrez_Gene_ID
|
5071
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
|
|
gptkbp:function
|
E3 ubiquitin ligase activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPseudogene
|
yes
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:8607
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PARK2 gene
|
|
gptkbp:interactsWith
|
gptkb:alpha-synuclein
gptkb:DJ-1
gptkb:PINK1
gptkb:MUL1
gptkb:Miro1
gptkb:VDAC1
gptkb:mitofusin_2
gptkb:p62/SQSTM1
ubiquitin
|
|
gptkbp:involves
|
gptkb:ubiquitin-proteasome_pathway
gptkb:PINK1-Parkin_pathway
|
|
gptkbp:length
|
465 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_6
6q25.2-q27
|
|
gptkbp:mutationAssociatedWith
|
deletion
duplication
point mutation
loss of function
common in early-onset Parkinson's disease
early-onset Parkinsonism
|
|
gptkbp:OMIM
|
602544
|
|
gptkbp:orthologInMouse
|
gptkb:Park2
|
|
gptkbp:proteinFamily
|
gptkb:IBR_domain
RING finger domain
Ubiquitin-like domain
|
|
gptkbp:regulates
|
cell cycle
mitochondrial quality control
|
|
gptkbp:relatedTo
|
neurodegeneration
tumor suppression
|
|
gptkbp:UniProtID
|
O60260
|
|
gptkbp:bfsParent
|
gptkb:Parkin
|
|
gptkbp:bfsLayer
|
6
|