|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:BRPK
gptkb:PARK6
gptkb:RKN1
gptkb:PD6
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Parkinson's_disease
|
|
gptkbp:discoveredBy
|
gptkb:Valina_L._Dawson
|
|
gptkbp:discoveredIn
|
2001
|
|
gptkbp:encodes
|
gptkb:PINK1_protein
|
|
gptkbp:Entrez_Gene_ID
|
65018
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
|
|
gptkbp:fullName
|
gptkb:PTEN_induced_putative_kinase_1
|
|
gptkbp:function
|
serine/threonine kinase activity
mitochondrial quality control
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:14581
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PINK1 gene
|
|
gptkbp:interactsWith
|
gptkb:Parkin_protein
|
|
gptkbp:involvedIn
|
cellular stress response
autosomal recessive inheritance
mitochondrial dynamics
|
|
gptkbp:length
|
581 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1p36.12
|
|
gptkbp:mutationAssociatedWith
|
gptkb:early-onset_Parkinson's_disease
nonsense
missense
frameshift
splice site
|
|
gptkbp:OMIM
|
608309
|
|
gptkbp:orthologInDrosophila
|
gptkb:Pink1
|
|
gptkbp:orthologInMouse
|
gptkb:Pink1
|
|
gptkbp:product
|
mitochondrial kinase
|
|
gptkbp:regulates
|
apoptosis
oxidative phosphorylation
neuronal survival
mitochondrial biogenesis
mitophagy
mitochondrial fission and fusion
mitochondrial DNA maintenance
mitochondrial trafficking
mitochondrial calcium homeostasis
mitochondrial import machinery
mitochondrial membrane potential
mitochondrial proteostasis
ubiquitination of mitochondrial proteins
|
|
gptkbp:UniProtID
|
gptkb:Q9BXM7
|
|
gptkbp:bfsParent
|
gptkb:PINK1
gptkb:Parkinson_disease_(ORPHA:411)
|
|
gptkbp:bfsLayer
|
7
|