PINK1 PTEN induced kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PINK1provided by HGNC
Official Full Name: PTEN induced kinase 1provided by HGNC
Primary source: HGNC:HGNC:14581
See related: Ensembl:ENSG00000158828 MIM:608309; AllianceGenome:HGNC:14581
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BRPK; PARK6
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 68.4), brain (RPKM 68.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (20633458..20651511)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (20459649..20477706)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (20959951..20978004)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Subcellular localization and function analysis of PINK1 mitron in PD progression: Mitron modulates mitochondrial morphology to regulate neuronal death.
Title: Subcellular localization and function analysis of PINK1 mitron in PD progression: Mitron modulates mitochondrial morphology to regulate neuronal death.
Deciphering the neuroprotective mechanisms of RACK1 in cerebral ischemia-reperfusion injury: Pioneering insights into mitochondrial autophagy and the PINK1/Parkin axis.
Title: Deciphering the neuroprotective mechanisms of RACK1 in cerebral ischemia-reperfusion injury: Pioneering insights into mitochondrial autophagy and the PINK1/Parkin axis.
Sgt1 Regulates alpha-Synuclein Subcellular Localization and Expression of Parkinson's Disease Related Genes, PINK1 and PARK9.
Title: Sgt1 Regulates α-Synuclein Subcellular Localization and Expression of Parkinson's Disease Related Genes, PINK1 and PARK9.
PINK1/Park2-Mediated Mitophagy Relieve Non-Alcoholic Fatty Liver Disease.
Title: PINK1/Park2-Mediated Mitophagy Relieve Non-Alcoholic Fatty Liver Disease.
Upregulation of UHRF1 Promotes PINK1-mediated Mitophagy to Alleviates Ferroptosis in Diabetic Nephropathy.
Title: Upregulation of UHRF1 Promotes PINK1-mediated Mitophagy to Alleviates Ferroptosis in Diabetic Nephropathy.
The SCF-FBW7beta E3 ligase mediates ubiquitination and degradation of the serine/threonine protein kinase PINK1.
Title: The SCF-FBW7β E3 ligase mediates ubiquitination and degradation of the serine/threonine protein kinase PINK1.
PINK1-PTEN axis promotes metastasis and chemoresistance in ovarian cancer via non-canonical pathway.
Title: PINK1-PTEN axis promotes metastasis and chemoresistance in ovarian cancer via non-canonical pathway.
METTL3/YTHDF2 m6A axis mediates the progression of diabetic nephropathy through epigenetically suppressing PINK1 and mitophagy.
Title: METTL3/YTHDF2 m6A axis mediates the progression of diabetic nephropathy through epigenetically suppressing PINK1 and mitophagy.
PINK1 dominated mitochondria associated genes signature predicts abdominal aortic aneurysm with metabolic syndrome.
Title: PINK1 dominated mitochondria associated genes signature predicts abdominal aortic aneurysm with metabolic syndrome.
PINK1-mediated mitophagy reduced inflammatory responses to Porphyromonas gingivalis in macrophages.
Title: PINK1-mediated mitophagy reduced inflammatory responses to Porphyromonas gingivalis in macrophages.

Submit: New GeneRIF Correction See all GeneRIFs (421)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive early-onset Parkinson disease 6 MedGen: C1853833 OMIM: 605909 GeneReviews: Parkinson Disease Overview, PINK1 Type of Young-Onset Parkinson Disease	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A001Z12 (e-PCR)
- UniSTS:39183

G19810 (e-PCR)
- UniSTS:39184

D1S2015E (e-PCR)
- UniSTS:151369

D1S478 (e-PCR), detects polymorphism
- UniSTS:19530

RH64541 (e-PCR)
- UniSTS:48729

D1S2674 (e-PCR)
- UniSTS:64100

RH12430 (e-PCR)
- UniSTS:36974

WI-15835 (e-PCR)
- UniSTS:36978

RH91506 (e-PCR)
- UniSTS:89541

SHGC-2365 (e-PCR)
- UniSTS:78563

D1S483 (e-PCR), detects polymorphism
- UniSTS:43748

D19S997 (e-PCR)
- UniSTS:53220

G34804 (e-PCR)
- UniSTS:14076

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-phosphoinositide-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables C3HC4-type RING finger domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables Rho-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables TORC2 complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables eukaryotic translation initiation factor 2alpha kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS121 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AT120 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS14 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS36 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S10 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S28 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S57 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T11 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T3 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T6 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H4S1 kinase activity	IEA Inferred from Electronic Annotation more info
enables kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables peptidase activator activity	TAS Traceable Author Statement more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protease binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase B binding	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein serine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein serine/threonine kinase activity	EXP Inferred from Experiment more info	PubMed
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein serine/threonine kinase activity	TAS Traceable Author Statement more info	PubMed
enables protein-containing complex binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in TORC2 signaling	IC Inferred by Curator more info	PubMed
involved_in activation of protein kinase B activity	IC Inferred by Curator more info	PubMed
involved_in autophagy of mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagy of mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hydrogen sulfide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to toxic substance	TAS Traceable Author Statement more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in dopamine secretion	IEA Inferred from Electronic Annotation more info
involved_in establishment of protein localization to mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hemopoiesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in macroautophagy	TAS Traceable Author Statement more info
involved_in maintenance of protein location in mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion to lysosome vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in mitophagy	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of JNK cascade	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of macroautophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mitochondrial fission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mitophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of reactive oxygen species metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-serine autophosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-serine autophosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of ATP biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cristae formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of dopamine secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of free ubiquitin chain polymerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of macroautophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial electron transport, NADH to ubiquinone	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of mitochondrial fission	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of peptidyl-serine phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IC Inferred by Curator more info	PubMed
involved_in positive regulation of protein targeting to mitochondrion	HMP more info	PubMed
involved_in positive regulation of protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of release of cytochrome c from mitochondria	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of synaptic transmission, dopaminergic	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of translation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of type 2 mitophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ubiquitin-protein transferase activity	TAS Traceable Author Statement more info	PubMed
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of autophagy of mitochondrion	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cellular response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of hydrogen peroxide metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitochondrial membrane potential	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of mitochondrial membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of oxidative phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of proteasomal protein catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of protein targeting to mitochondrion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of protein targeting to mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of reactive oxygen species metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of reactive oxygen species metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic vesicle transport	TAS Traceable Author Statement more info	PubMed
involved_in respiratory electron transport chain	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Lewy body	TAS Traceable Author Statement more info	PubMed
located_in astrocyte projection	IDA Inferred from Direct Assay more info	PubMed
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in cell body	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial intermembrane space	TAS Traceable Author Statement more info
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
is_active_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IGI Inferred from Genetic Interaction more info	PubMed
located_in mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: serine/threonine-protein kinase PINK1, mitochondrial

Names: PTEN induced putative kinase 1; PTEN-induced putative kinase protein 1; protein kinase BRPK

NP_115785.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008164.1 RefSeqGene

Range

5004..23057

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_032409.3 → NP_115785.1 serine/threonine-protein kinase PINK1, mitochondrial precursor

See identical proteins and their annotated locations for NP_115785.1

Status: REVIEWED

Source sequence(s)

AB053323, AL391357

Consensus CDS

CCDS211.1

UniProtKB/Swiss-Prot

Q8N6T9, Q8NBU3, Q96DE4, Q9BXM7

Related

ENSP00000364204.3, ENST00000321556.5

Conserved Domains (1) summary

cd14018
Location:162 → 512

STKc_PINK1; Catalytic domain of the Serine/Threonine protein kinase, Pten INduced Kinase 1