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

Gene ID: 65018, updated on 27-Nov-2024

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
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Try the new Transcript table

Genomic context

See PINK1 in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 43 member B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 365 Neighboring gene cytidine deaminase Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:20940319-20941257 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:20951525-20952059 Neighboring gene Sharpr-MPRA regulatory region 8954 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 366 Neighboring gene microRNA 6084 Neighboring gene PINK1 antisense RNA Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:20987241-20988160 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:20988161-20989080 Neighboring gene dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit Neighboring gene kinesin family member 17 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21011543-21012044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21015049-21015549 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:21015960-21016182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21036574-21037228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 370

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ27236

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 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 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

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_008164.1 RefSeqGene

    Range
    5004..23057
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032409.3NP_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:162512
    STKc_PINK1; Catalytic domain of the Serine/Threonine protein kinase, Pten INduced Kinase 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    20633458..20651511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    20459649..20477706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)