EDK
Editome Disease Knowledgebase
PINK1
| Gene symbol | PINK1 |
|---|---|
| Aliases | - |
| Protein Name | Serine/threonine-protein kinase PINK1, mitochondrial |
| Function | Protects against mitochondrial dysfunction during cellular stress by phosphorylating mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) by mediating activation and translocation of PRKN. Stop codons at position 437 in PINK1 are linked to an inheritable monogenetic form of Parkinson's disease and it results in the impairment of the Parkin-dependent perinuclear clustering and is characterized by a cellular phenotype: loss of mitophagy. |
| Species | Human |
| Editing Sites | 1 |
| Disease | Parkinson's Disease; |
| Description | Stop codon at position 437 in PINK1 are linked to an inheritable monogenetic form of Parkinson's disease(PD) and it results in the impairment of the Parkin-dependent perinuclear clustering and is characterized by a cellular phenotype: loss of mitophagy. So, some researchers apply RNA-editing technology to recode the mutation in PINK1(W437X) to rescue the PINK1/Parkin-mediated mitophagy. |
| RADR | RADAR |
| REDIportal | REDI portal |
| External links | Q9BXM7(Uniport); NM_032409 (NM id); 65018 (NCBI gene id); GeneCard; GTEx |
| Sequence |
Editing sites
| Enzyme | Editing type | Region | AA Seq Position | NT Seq Position | Codon Change | Amino Acid Change | Molecular Consequence | Editing Level | Tissue | Editing Effect | Phenotype | Disease name | PMID |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
A-to-I | CDS | 437 | 1406 | UAG->UGG | *->W | Nonsynonymous substitution | Present | Brain | RNA-editing technology recodes the mutation in PINK1(W437X) to rescue the PINK1/Parkin-mediated mitophagy. | Repair mitophagy |