Variant "PARK7:p.Lys130*"
Search result: 1 record
Variant information
Gene:
PARK7 
Variant:
PARK7:p.Lys130* 
Mouse homolog:
Park7:p.Lys130Arg 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Target disease:
    Neurodegeneration (HP:0002180)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Gene activity study 
    Effect:
    Fails to repress p53 transcriptional activity and loses its protective function against ultraviolet induced cell death
    Reference:
    PMID18339323
    Title:
    Sumoylation is critical for DJ-1 to repress p53 transcriptional activity.
    Species studied:
    Mouse
    Abstract:
    Sumoylation is an important post-translational modification, which is also involved in the pathogenesis of many neurodegenerative diseases. We previously reported that DJ-1 decreases Bcl-2 associated X protein expression through repressing p53 transcriptional activity. Here we show that DJ-1(K130R), the non-sumoylatable mutant form of DJ-1, shifts from nucleus to cytoplasm, fails to repress p53 transcriptional activity and loses its protective function against ultraviolet induced cell death. Our findings suggest that sumoylation is critical for DJ-1 to repress p53 transcriptional activity.