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

    Gene ID: 65018, updated on 11-Apr-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    1p36.12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (20633458..20651511)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (20459649..20477706)
    105.20220307 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 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 TORC2 complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables calcium-dependent protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 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 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 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 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 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 peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-serine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptidyl-serine phosphorylation 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 mitophagy in response to mitochondrial depolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of peptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    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 dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    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 translation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 phosphorylation TAS
    Traceable Author Statement
    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 
    part_of 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
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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_2023_10

    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)