|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
parkin
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
gptkb:Parkinson's_disease
gptkb:cancer
Lewy body dementia
autosomal recessive juvenile Parkinsonism
|
|
gptkbp:discoveredBy
|
Ming Guo et al.
|
|
gptkbp:encodes
|
gptkb:parkin_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000185345
5071
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
|
|
gptkbp:firstDescribed
|
1998
|
|
gptkbp:function
|
E3 ubiquitin ligase
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:8607
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PARK2
|
|
gptkbp:interactsWith
|
gptkb:alpha-synuclein
gptkb:DJ-1
gptkb:PINK1
ubiquitin
|
|
gptkbp:length
|
1.38 Mb
465 amino acids
|
|
gptkbp:locatedOnChromosome
|
6
6q25.2-q27
|
|
gptkbp:mutationAssociatedWith
|
deletions
duplications
point mutations
loss of function mutations cause early-onset Parkinson's disease
|
|
gptkbp:numberOfExons
|
12
|
|
gptkbp:OMIM
|
602544
|
|
gptkbp:orthologInMouse
|
gptkb:Park2
|
|
gptkbp:pathway
|
gptkb:ubiquitin-proteasome_pathway
mitophagy
|
|
gptkbp:product
|
parkin
|
|
gptkbp:proteinFamily
|
gptkb:IBR_domain
gptkb:RBR_E3_ubiquitin_ligase_family
RING finger domain
Ubiquitin-like domain
|
|
gptkbp:regulates
|
protein degradation
mitochondrial quality control
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
gptkb:cytoplasm
mitochondria
|
|
gptkbp:UniProtID
|
O60260
|
|
gptkbp:bfsParent
|
gptkb:juvenile_Parkinson's_disease
gptkb:6q26
|
|
gptkbp:bfsLayer
|
6
|