PhenoModifier-Gene Detail

Gene "PARK7"

Found 1 record

Gene information

Gene symbol:

PARK7

See related:

Ensembl: ENSG00000116288, Gene ID: 11315

Additive variants :

Undetected

Genetic interaction partners

No data

Modifier statisitcs

Record:

1

Disorder:

1

Vriant:

1

Reference:

1

Effect type:

Penetrance(1)

Modifier effect:

Altered incidence(1)

Detail：

Variant 1:

PARK7:p.Lys130*

Gene:

PARK7

Genomic location:

dbSNP ID:

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.