PINK1
Serine/threonine-protein kinase PINK1, mitochondrial
Also known as: BRPK, PARK6, PINK1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BXM7
- Gene
- PINK1
- Ensembl
- ENSG00000158828
- Chromosome
- 1
- Canonical length
- 581 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
581 residues, UniProt reviewed canonical sequence.
>Q9BXM7|PINK1
1 MAVRQALGRG LQLGRALLLR FTGKPGRAYG LGRPGPAAGC VRGERPGWAA GPGAEPRRVG
61 LGLPNRLRFF RQSVAGLAAR LQRQFVVRAW GCAGPCGRAV FLAFGLGLGL IEEKQAESRR
121 AVSACQEIQA IFTQKSKPGP DPLDTRRLQG FRLEEYLIGQ SIGKGCSAAV YEATMPTLPQ
181 NLEVTKSTGL LPGRGPGTSA PGEGQERAPG APAFPLAIKM MWNISAGSSS EAILNTMSQE
241 LVPASRVALA GEYGAVTYRK SKRGPKQLAP HPNIIRVLRA FTSSVPLLPG ALVDYPDVLP
301 SRLHPEGLGH GRTLFLVMKN YPCTLRQYLC VNTPSPRLAA MMLLQLLEGV DHLVQQGIAH
361 RDLKSDNILV ELDPDGCPWL VIADFGCCLA DESIGLQLPF SSWYVDRGGN GCLMAPEVST
421 ARPGPRAVID YSKADAWAVG AIAYEIFGLV NPFYGQGKAH LESRSYQEAQ LPALPESVPP
481 DVRQLVRALL QREASKRPSA RVAANVLHLS LWGEHILALK NLKLDKMVGW LLQQSAATLL
541 ANRLTEKCCV ETKMKMLFLA NLECETLCQA ALLLCSWRAA LLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PINK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 367 nTPM
Expression across tissuesHPA
Tissue
- tongue: 367 nTPM
- skeletal muscle: 359 nTPM
- cerebral cortex: 191 nTPM
- midbrain: 184 nTPM
- amygdala: 170 nTPM
- basal ganglia: 163 nTPM
Single-cell type
- late spermatids: 245 nCPM
- esophageal apical cells: 208 nCPM
- late primary spermatocytes: 179 nCPM
- hepatocytes: 130 nCPM
- epididymal clear cells: 116 nCPM
- neutrophils: 111 nCPM
Immune cell
- neutrophil: 8.2 nTPM
- non-classical monocyte: 3.9 nTPM
- basophil: 3.7 nTPM
- eosinophil: 3.7 nTPM
- classical monocyte: 1.6 nTPM
- naive B-cell: 1.5 nTPM
Brain region
- thalamus: 275 nTPM
- midbrain: 265 nTPM
- spinal cord: 257 nTPM
- amygdala: 240 nTPM
- medulla oblongata: 239 nTPM
- pons: 236 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PINK1.
Disease | AllUniProt
Conditions PINK1 is implicated in, by any mechanism.
- Parkinson disease 6 (PARK6) MIM:605909
Disease | GeneticClinVar
48 pathogenic / likely-pathogenic of 462 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal recessive early-onset Parkinson disease 6
- PINK1-related disorder
- Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
- Thymoma
Disease | ImmuneIEDB
Conditions an epitope on PINK1 was assayed in.
- Parkinson's disease T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.14
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.13
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagy of mitochondrion
- cellular response to hydrogen sulfide
- cellular response to hypoxia
- cellular response to oxidative stress
- cellular response to toxic substance
- dopamine secretion
- establishment of protein localization to mitochondrion
- hemopoiesis
- intracellular signal transduction
- macroautophagy
- maintenance of protein location in mitochondrion
- mitochondrion organization
- mitochondrion to lysosome vesicle-mediated transport
- mitophagy
- negative regulation of autophagosome assembly
- negative regulation of gene expression
- negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway
- negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway
- negative regulation of intrinsic apoptotic signaling pathway
- negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide
- negative regulation of JNK cascade
- negative regulation of macroautophagy
- negative regulation of mitochondrial fission
- negative regulation of mitophagy
- negative regulation of neuron apoptotic process
- negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway
- negative regulation of reactive oxygen species metabolic process
- positive regulation of ATP biosynthetic process
- positive regulation of canonical NF-kappaB signal transduction
- positive regulation of cell migration
- positive regulation of cristae formation
- positive regulation of dopamine secretion
- positive regulation of free ubiquitin chain polymerization
- positive regulation of macroautophagy
- positive regulation of mitochondrial electron transport, NADH to ubiquinone
- positive regulation of mitochondrial fission
- positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- positive regulation of protein targeting to mitochondrion
- positive regulation of protein ubiquitination
- positive regulation of release of cytochrome c from mitochondria
- positive regulation of synaptic transmission, dopaminergic
- positive regulation of transcription by RNA polymerase II
- positive regulation of translation
- positive regulation of type 2 mitophagy
- protein phosphorylation
- protein stabilization
- protein ubiquitination
- regulation of apoptotic process
- regulation of autophagy of mitochondrion
- regulation of cellular response to oxidative stress
- regulation of hydrogen peroxide metabolic process
- regulation of mitochondrial membrane potential
- regulation of mitochondrion organization
- regulation of oxidative phosphorylation
- regulation of proteasomal protein catabolic process
- regulation of protein targeting to mitochondrion
- regulation of protein ubiquitination
- regulation of protein-containing complex assembly
- regulation of reactive oxygen species metabolic process
- regulation of synaptic vesicle transport
- respiratory electron transport chain
- response to ischemia
- response to oxidative stress
- TORC2 signaling
- ubiquitin-dependent protein catabolic process
Molecular functions
- ATP binding
- C3HC4-type RING finger domain binding
- kinase activity
- kinase binding
- magnesium ion binding
- peptidase activator activity
- protease binding
- protein kinase activity
- protein kinase B binding
- protein serine kinase activity
- protein serine/threonine kinase activity
- protein-containing complex binding
- ubiquitin protein ligase binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PINK1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PINK1 as an antibody target. Whether an autoantibody or antibody against PINK1 could matter depends on whether native PINK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PINK1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PINK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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