PINK1 Gene: PTEN-Induced Kinase 1
A mitochondrial serine/threonine kinase implicated in Parkinson's disease and mitochondrial quality control.
Gene Information Card
| Symbol | PINK1 |
|---|---|
| Full Name | PTEN induced kinase 1 |
| Gene Type | protein coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 65018 ncbi.nlm.nih.gov/gene/65018 |
| Ensembl ID | ENSG00000158828 |
| UniProt ID | Q9BXM7 |
| OMIM ID | 608309 |
| HGNC ID | 14581 |
| Aliases | PARK6, BRPK |
Description
PINK1 encodes a serine/threonine kinase localized to mitochondria. It plays a critical role in mitochondrial quality control, particularly in the clearance of damaged mitochondria via mitophagy. Mutations in PINK1 cause autosomal recessive early-onset Parkinson's disease (PARK6).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson disease 6 (PARK6) | Loss-of-function mutations impair mitophagy, leading to accumulation of dysfunctional mitochondria and dopaminergic neuron death. | OMIM: 608309; ClinVar; multiple publications |
| Early-onset Parkinson disease | Biallelic mutations in PINK1 cause early-onset parkinsonism with slow progression and good response to levodopa. | OMIM; GeneReviews |
| Parkinson disease (sporadic) | Common variants may modulate risk, but evidence is less conclusive. | ClinVar; GWAS studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 5.4 | Low |
| Heart | 4.8 | Low |
| Brain | 3.2 | Low |
| Liver | 2.1 | Low |
| Kidney | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 2.5 | Neuronal model; used in PINK1 studies |
| HeLa (cervical carcinoma) | 1.8 | Common cell line for mitophagy assays |
| HEK293 (embryonic kidney) | 1.5 | Used for overexpression studies |
| HepG2 (liver carcinoma) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1366C>T (p.Gln456Ter) | Nonsense | Rare | Truncated protein, loss of kinase activity |
| c.1040T>C (p.Leu347Pro) | Missense | Rare | Impaired kinase activity and mitochondrial localization |
| c.509A>G (p.Asn170Ser) | Missense | Rare | Reduced kinase activity |
| c.1480G>A (p.Glu494Lys) | Missense | Rare | Loss of function, affects mitophagy |
| c.1252A>G (p.Thr418Ala) | Missense | Rare | Impaired autophosphorylation |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, leading to reduced kinase activity or protein stability, impairing mitophagy.
Gain of Function (GOF)
No clear gain-of-function mutations reported; some variants may exert dominant-negative effects in heterozygous state, but evidence is limited.
Dominant Negative (DN)
Rare heterozygous mutations may have dominant-negative effects, but autosomal recessive inheritance is typical.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • mitochondrion | • mitophagy |
| • cellular response to oxidative stress | • protein phosphorylation |
| • ubiquitin protein ligase binding |
Pathways
• PINK1/Parkin-mediated mitophagy
• Mitochondrial quality control
• Parkinson's disease pathway
Protein Summary
PINK1 is a 581-amino acid serine/threonine kinase with an N-terminal mitochondrial targeting sequence, a transmembrane domain, and a kinase domain. It is normally imported into mitochondria and cleaved, but upon mitochondrial depolarization, it accumulates on the outer mitochondrial membrane, phosphorylates ubiquitin and Parkin, and triggers mitophagy. Mutations disrupt this process, leading to mitochondrial dysfunction and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PINK1 Knockout HEK293 Cell Line | EDJ-KQ3426 | Human | 65018 | Details Get a Quote |
| SPINK13 Knockout HEK293 Cell Line | EDJ-KQ11496 | Human | 153218 | Details Get a Quote |
| SPINK14 Knockout HEK293 Cell Line | EDJ-KQ11838 | Human | 408187 | Details Get a Quote |
| PINK1 Knockout A-549 Cell Line | EDJ-KQ25145 | Human | 65018 | Details Get a Quote |
| PINK1 Knockout HCT 116 Cell Line | EDJ-KQ25146 | Human | 65018 | Details Get a Quote |
| PINK1 Knockout HeLa Cell Line | EDJ-KQ25147 | Human | 65018 | Details Get a Quote |
| SPINK13 Knockout HeLa Cell Line | EDJ-KQ39818 | Human | 153218 | Details Get a Quote |
| SPINK1 Knockout HEK293 Cell Line | EDJ-KQ50647 | Human | 6690 | Details Get a Quote |
| SPINK1 Knockout HeLa Cell Line | EDJ-KQ54546 | Human | 6690 | Details Get a Quote |
| SPINK14 Knockout HeLa Cell Line | EDJ-KQ60353 | Human | 408187 | Details Get a Quote |
| SPINK1 Knockout A-549 Cell Line | EDJ-KQ63030 | Human | 6690 | Details Get a Quote |
| SPINK13 Knockout A-549 Cell Line | EDJ-KQ67204 | Human | 153218 | Details Get a Quote |
| SPINK14 Knockout A-549 Cell Line | EDJ-KQ68820 | Human | 408187 | Details Get a Quote |
| SPINK1 Knockout HCT 116 Cell Line | EDJ-KQ71506 | Human | 6690 | Details Get a Quote |
| SPINK13 Knockout HCT 116 Cell Line | EDJ-KQ75609 | Human | 153218 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
