protein deglycase DJ-1; DJ-1; oncogene DJ1; parkinson disease protein 7 (PARK7)
Jump to navigation
Jump to search
Function
- unknown
- may be involved in RAS related signal transduction;
- may be involved in oxidative stress response
- may protect neurons against oxidative stress
- binds to PIAS proteins;
- sumoylated at lysine 130
- positive regulator of androgen receptor- dependent transcription
- prevents aggregation of SNCA
- weak transforming activity
- binds DJBP,PIAS2.
- component of ternary complex containing PARK7, DJBP, AR
Compartment
- cytoplasm
- associated with mitochondria in some cells after oxidative stress
Expression
- expressed in pancreas, kidney, skeletal muscle, liver, testis heart > placenta, brain (astrocytes)
Pathology
- detected in tau inclusions in brains from patients with neurodegenerative disease
- mutations seen in early onset autosomal recessive Parkinson's disease - PARK7
More general terms
Additional terms
References
- ↑ Bonifati V et al Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299:256-59, 2003 PMID: https://www.ncbi.nlm.nih.gov/pubmed/12446870
- ↑ UniProt http://www.uniprot.org/uniprot/Q99497.html
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=11315
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:11315
- OMIM: https://mirror.omim.org/entry/168600
- OMIM: https://mirror.omim.org/entry/602533
- OMIM: https://mirror.omim.org/entry/606324
- UniProt: http://www.uniprot.org/uniprot/Q99497.html