|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:DJ-1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
gptkb:Parkinson's_disease
amyotrophic lateral sclerosis
neurodegeneration
|
|
gptkbp:discoveredBy
|
Bonifati et al.
|
|
gptkbp:discoveredIn
|
2003
|
|
gptkbp:encodes
|
gptkb:DJ-1_protein
|
|
gptkbp:Entrez_Gene_ID
|
11315
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
liver
|
|
gptkbp:function
|
protects cells against oxidative stress
acts as a molecular chaperone
involved in transcriptional regulation
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:16380
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PARK7 gene
|
|
gptkbp:involvedIn
|
mitochondrial function
regulation of apoptosis
response to oxidative stress
cellular protection
|
|
gptkbp:length
|
189 amino acids
24,000 base pairs (approximate)
|
|
gptkbp:locatedOnChromosome
|
gptkb:1p36.23
chromosome 1
|
|
gptkbp:mutationAssociatedWith
|
gptkb:autosomal_recessive_early-onset_Parkinson's_disease
nonsense
deletion
insertion
missense
|
|
gptkbp:OMIM
|
602533
|
|
gptkbp:orthologInMouse
|
gptkb:Park7
|
|
gptkbp:pathway
|
gptkb:Parkinson's_disease_pathway
cellular senescence pathway
oxidative stress response pathway
|
|
gptkbp:postTranslationalModification
|
phosphorylation
oxidation
sumoylation
|
|
gptkbp:product
|
homodimer
|
|
gptkbp:proteinFamily
|
gptkb:DJ-1/ThiJ/PfpI_family
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
gptkb:cytoplasm
mitochondria
|
|
gptkbp:UniProtID
|
Q99497
|
|
gptkbp:bfsParent
|
gptkb:DJ-1
|
|
gptkbp:bfsLayer
|
7
|