• Gene id: 65018

Gene Summary

• Gene Symbol: PINK1   Gene   UCSC   Ensembl
• Aliases: BRPK, PARK6
• Gene name: PTEN induced kinase 1
• Alternate names: serine/threonine-protein kinase PINK1, mitochondrial, PTEN induced putative kinase 1, PTEN-induced putative kinase protein 1, protein kinase BRPK,
• Gene location: 1p36.12 (20633457: 20651510)     Exons: 11     NC_000001.11
• Gene summary(Entrez): 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. [
• OMIM: 608309

Protein Summary

• Protein general information: Q9BXM7  
  • Name: Serine/threonine protein kinase PINK1, mitochondrial (EC 2.7.11.1) (BRPK) (PTEN induced putative kinase protein 1)
  • Length: 581  
  • Mass: 62769
  • Tissue specificity: Highly expressed in heart, skeletal muscle and testis, and at lower levels in brain, placenta, liver, kidney, pancreas, prostate, ovary and small intestine. Present in the embryonic testis from an early stage of development. {ECO
• Sequence:

  MAVRQALGRGLQLGRALLLRFTGKPGRAYGLGRPGPAAGCVRGERPGWAAGPGAEPRRVGLGLPNRLRFFRQSVA
  GLAARLQRQFVVRAWGCAGPCGRAVFLAFGLGLGLIEEKQAESRRAVSACQEIQAIFTQKSKPGPDPLDTRRLQG
  FRLEEYLIGQSIGKGCSAAVYEATMPTLPQNLEVTKSTGLLPGRGPGTSAPGEGQERAPGAPAFPLAIKMMWNIS
  AGSSSEAILNTMSQELVPASRVALAGEYGAVTYRKSKRGPKQLAPHPNIIRVLRAFTSSVPLLPGALVDYPDVLP
  SRLHPEGLGHGRTLFLVMKNYPCTLRQYLCVNTPSPRLAAMMLLQLLEGVDHLVQQGIAHRDLKSDNILVELDPD
  GCPWLVIADFGCCLADESIGLQLPFSSWYVDRGGNGCLMAPEVSTARPGPRAVIDYSKADAWAVGAIAYEIFGLV
  NPFYGQGKAHLESRSYQEAQLPALPESVPPDVRQLVRALLQREASKRPSARVAANVLHLSLWGEHILALKNLKLD
  KMVGWLLQQSAATLLANRLTEKCCVETKMKMLFLANLECETLCQAALLLCSWRAAL

• Structural information:
  • Protein Domains: (156..51-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159,-ECO:0000305")
  • Interpro: IPR011009  IPR040110  IPR000719  IPR008271  
  • Prosite: PS50011 PS00108
  • CDD: cd14018
  • DIP: 29427
  • STRING: ENSP00000364204
• Other Databases: GeneCards:  PINK1  Malacards:  PINK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043422	protein kinase B binding	IDA	molecular function
GO:1903202	negative regulation of oxidative stress-induced cell death	IDA	biological process
GO:0007005	mitochondrion organization	IMP	biological process
GO:1903384	negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway	IDA	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006468	protein phosphorylation	TAS	biological process
GO:0006468	protein phosphorylation	IMP	biological process
GO:0006979	response to oxidative stress	IGI	biological process
GO:2000377	regulation of reactive oxygen species metabolic process	IGI	biological process
GO:2000377	regulation of reactive oxygen species metabolic process	IMP	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0002020	protease binding	TAS	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:2000378	negative regulation of reactive oxygen species metabolic process	IMP	biological process
GO:1904544	positive regulation of free ubiquitin chain polymerization	ISS	biological process
GO:0030424	axon	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0016504	peptidase activator activity	TAS	molecular function
GO:0016301	kinase activity	NAS	molecular function
GO:0044297	cell body	IDA	cellular component
GO:1903751	negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide	IDA	biological process
GO:1903204	negative regulation of oxidative stress-induced neuron death	TAS	biological process
GO:2001171	positive regulation of ATP biosynthetic process	TAS	biological process
GO:1903384	negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway	IMP	biological process
GO:1903146	regulation of autophagy of mitochondrion	TAS	biological process
GO:1902803	regulation of synaptic vesicle transport	TAS	biological process
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0036289	peptidyl-serine autophosphorylation	TAS	biological process
GO:0036289	peptidyl-serine autophosphorylation	IMP	biological process
GO:0002082	regulation of oxidative phosphorylation	IDA	biological process
GO:0000785	chromatin	IDA	cellular component
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	ISS	molecular function
GO:0004672	protein kinase activity	IMP	molecular function
GO:0098779	positive regulation of mitophagy in response to mitochondrial depolarization	IMP	biological process
GO:1903955	positive regulation of protein targeting to mitochondrion	HMP	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005856	cytoskeleton	IDA	cellular component
GO:0097413	Lewy body	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0010952	positive regulation of peptidase activity	TAS	biological process
GO:0051443	positive regulation of ubiquitin-protein transferase activity	TAS	biological process
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097449	astrocyte projection	IDA	cellular component
GO:0071456	cellular response to hypoxia	IMP	biological process
GO:0090258	negative regulation of mitochondrial fission	IMP	biological process
GO:0031396	regulation of protein ubiquitination	IMP	biological process
GO:0031396	regulation of protein ubiquitination	IMP	biological process
GO:0034599	cellular response to oxidative stress	IMP	biological process
GO:0044877	protein-containing complex binding	IMP	molecular function
GO:0010821	regulation of mitochondrion organization	IMP	biological process
GO:0016239	positive regulation of macroautophagy	IMP	biological process
GO:0018105	peptidyl-serine phosphorylation	TAS	biological process
GO:0018105	peptidyl-serine phosphorylation	ISS	biological process
GO:1904841	TORC2 complex binding	IPI	molecular function
GO:0038203	TORC2 signaling	IC	biological process
GO:1903214	regulation of protein targeting to mitochondrion	IMP	biological process
GO:1903214	regulation of protein targeting to mitochondrion	IGI	biological process
GO:1902902	negative regulation of autophagosome assembly	IMP	biological process
GO:0032148	activation of protein kinase B activity	IC	biological process
GO:1902958	positive regulation of mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:1903147	negative regulation of autophagy of mitochondrion	IMP	biological process
GO:0051897	positive regulation of protein kinase B signaling	IC	biological process
GO:0072656	maintenance of protein location in mitochondrion	IMP	biological process
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IDA	biological process
GO:0005741	mitochondrial outer membrane	IMP	cellular component
GO:0043524	negative regulation of neuron apoptotic process	IMP	biological process
GO:0005739	mitochondrion	IGI	cellular component
GO:0005739	mitochondrion	IMP	cellular component
GO:0099074	mitochondrion to lysosome transport	IMP	biological process
GO:0046329	negative regulation of JNK cascade	TAS	biological process
GO:0051881	regulation of mitochondrial membrane potential	IGI	biological process
GO:0051881	regulation of mitochondrial membrane potential	IMP	biological process
GO:0051881	regulation of mitochondrial membrane potential	IMP	biological process
GO:0061136	regulation of proteasomal protein catabolic process	NAS	biological process
GO:0072655	establishment of protein localization to mitochondrion	IMP	biological process
GO:0097237	cellular response to toxic substance	TAS	biological process
GO:1900407	regulation of cellular response to oxidative stress	IMP	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0016242	negative regulation of macroautophagy	IMP	biological process
GO:1903852	positive regulation of cristae formation	IMP	biological process
GO:0031398	positive regulation of protein ubiquitination	ISS	biological process
GO:0033138	positive regulation of peptidyl-serine phosphorylation	TAS	biological process
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IMP	biological process
GO:0090141	positive regulation of mitochondrial fission	IBA	biological process
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0006468	protein phosphorylation	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0004672	protein kinase activity	IBA	molecular function
GO:0000422	autophagy of mitochondrion	IBA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0006468	protein phosphorylation	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0050821	protein stabilization	IMP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000422	autophagy of mitochondrion	IMP	biological process
GO:0016567	protein ubiquitination	IMP	biological process
GO:0000422	autophagy of mitochondrion	IMP	biological process
GO:0000422	autophagy of mitochondrion	IMP	biological process
GO:0000422	autophagy of mitochondrion	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016301	kinase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:1903214	regulation of protein targeting to mitochondrion	IDA	biological process
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005758	mitochondrial intermembrane space	TAS	cellular component
GO:0005758	mitochondrial intermembrane space	TAS	cellular component
GO:0005758	mitochondrial intermembrane space	TAS	cellular component
GO:0016236	macroautophagy	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0032226	positive regulation of synaptic transmission, dopaminergic	IEA	biological process
GO:0033603	positive regulation of dopamine secretion	IEA	biological process
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0043523	regulation of neuron apoptotic process	IEA	biological process
GO:0045727	positive regulation of translation	IEA	biological process
GO:0050821	protein stabilization	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0002931	response to ischemia	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031625	ubiquitin protein ligase binding	IEA	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:1901215	negative regulation of neuron death	IEA	biological process
GO:1904881	cellular response to hydrogen sulfide	IEA	biological process
GO:1904925	positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0010310	regulation of hydrogen peroxide metabolic process	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0022904	respiratory electron transport chain	IEA	biological process
GO:0033605	positive regulation of catecholamine secretion	IEA	biological process
GO:0035307	positive regulation of protein dephosphorylation	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0097237	cellular response to toxic substance	IEA	biological process
GO:1901727	positive regulation of histone deacetylase activity	IEA	biological process
GO:1902958	positive regulation of mitochondrial electron transport, NADH to ubiquinone	IEA	biological process
GO:1903298	negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0090141	positive regulation of mitochondrial fission	IEA	biological process
GO:1904783	positive regulation of NMDA glutamate receptor activity	IEA	biological process
GO:0010857	calcium-dependent protein kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0055131	C3HC4-type RING finger domain binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0031396	regulation of protein ubiquitination	IDA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0043254	regulation of protein-containing complex assembly	IDA	biological process
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IMP	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IDA	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0006468	protein phosphorylation	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0035556	intracellular signal transduction	IDA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05012	Parkinson disease
hsa04137	Mitophagy - animal

Diseases

Associated diseases	References
Parkinson disease	KEGG:H00057
Parkinsonian syndrome	KEGG:H01600
Parkinson disease	KEGG:H00057
Parkinsonian syndrome	KEGG:H01600
Parkinson's disease	PMID:25639775
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray