|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:PARK7
|
|
gptkbp:associatedWith
|
gptkb:Parkinson's_disease
gptkb:cancer
neurodegeneration
male infertility
|
|
gptkbp:biologicalProcess
|
regulation of apoptosis
RNA binding
antioxidant activity
response to oxidative stress
cellular protection
mitochondrial homeostasis
protein deglycase activity
|
|
gptkbp:discoveredBy
|
Bonifati et al.
|
|
gptkbp:discoveredIn
|
2003
|
|
gptkbp:encodes
|
gptkb:DJ-1_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000116288
11315
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
heart
liver
|
|
gptkbp:function
|
protects cells from oxidative stress
regulates transcription
acts as a molecular chaperone
involved in mitochondrial function
|
|
gptkbp:HGNC_ID
|
gptkb:PARK7
|
|
gptkbp:interactsWith
|
gptkb:alpha-synuclein
gptkb:PINK1
parkin
|
|
gptkbp:length
|
7 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:1p36.23
chromosome 1
|
|
gptkbp:mutationAssociatedWith
|
gptkb:autosomal_recessive_early-onset_Parkinson's_disease
|
|
gptkbp:OMIM
|
602533
|
|
gptkbp:orthologInDrosophila
|
gptkb:DJ-1alpha
gptkb:DJ-1beta
|
|
gptkbp:orthologInMouse
|
gptkb:Park7
|
|
gptkbp:product
|
gptkb:PARK7_protein
|
|
gptkbp:proteinFamily
|
gptkb:DJ-1/ThiJ/PfpI_family
|
|
gptkbp:RefSeq
|
gptkb:NM_007262
|
|
gptkbp:regulates
|
apoptosis-related genes
oxidative stress response genes
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
gptkb:cytoplasm
mitochondria
|
|
gptkbp:UniProtID
|
Q99497
|
|
gptkbp:bfsParent
|
gptkb:Parkinson_disease_(ORPHA:411)
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
DJ-1 gene
|