serine/threonine protein kinase PINK1, mitochondrial; PTEN-induced putative kinase protein 1; BRPK (PINK1)
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Function
- protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating mitochondrial proteins
- phosphorylates ubiquitin & the ubiquitin-like domain of Parkin[4]
- interacts with the mitochondrial outer membrane
- may be modulated by mitochondrial reactive oxygen species[4]
- autophosphorylated
Structure
- belongs to the protein kinase superfamily, Ser/Thr protein kinase family
- may be homologous to CaM kinases
- contains 1 protein kinase domain
Compartment
- mitochondrial outer membrane; single-pass membrane protein
Alternative splicing
named isoforms=2
Expression
- highly expressed in heart, skeletal muscle & testis, & at lower levels in brain, placenta, liver, kidney, pancreas, prostate, ovary & small intestine
- present in the embryonic testis from an early stage of development
Pathology
- defects in PINK1 are the cause of Parkinson's disease type 6
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q9BXM7.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/PINK1
- ↑ Valente EM et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304:1158-60, 2004 PMID: https://www.ncbi.nlm.nih.gov/pubmed/15087508
- ↑ 4.0 4.1 4.2 Gan ZY, Callegari S, Cobbold SA et al Activation mechanism of PINK1 Nature 2021. December 21 PMID: https://www.ncbi.nlm.nih.gov/pubmed/34933320 https://www.nature.com/articles/s41586-021-04340-2
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=65018
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:65018
- OMIM: https://mirror.omim.org/entry/168600
- OMIM: https://mirror.omim.org/entry/605909
- OMIM: https://mirror.omim.org/entry/608309
- UniProt: http://www.uniprot.org/uniprot/Q9BXM7.html