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

    Gene ID: 65018, updated on 30-Aug-2015
    Official Symbol
    PINK1provided by HGNC
    Official Full Name
    PTEN induced putative kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:14581
    See related
    Ensembl:ENSG00000158828; HPRD:10514; MIM:608309; Vega:OTTHUMG00000002841
    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]
    Orthologs
    See PINK1 in Epigenomics, MapViewer
    Location:
    1p36
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (20633455..20651511)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (20959948..20978004)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 43, member B Neighboring gene cytidine deaminase Neighboring gene microRNA 6084 Neighboring gene PINK1 antisense RNA Neighboring gene dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) Neighboring gene kinesin family member 17

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Parkinson's disease, organism-specific biosystem (from KEGG)
      Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
    • Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
      Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ27236

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    C3HC4-type RING finger domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    calcium-dependent protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidase activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protease binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase B binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    TORC2 signaling IC
    Inferred by Curator
    more info
    PubMed 
    activation of mitophagy in response to mitochondrial depolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    activation of protein kinase B activity IC
    Inferred by Curator
    more info
    PubMed 
    cellular response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to toxic substance TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of JNK cascade TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of mitophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of oxidative stress-induced cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of oxidative stress-induced neuron death TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of reactive oxygen species metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-serine autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-serine autophosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-serine phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    phosphorylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of ATP biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of I-kappaB kinase/NF-kappaB signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cristae formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of dopamine secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of mitochondrial electron transport, NADH to ubiquinone TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of mitochondrial fission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of peptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of peptidyl-serine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of peptidyl-serine phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of protein dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein kinase B signaling IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of sequence-specific DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of synaptic transmission, dopaminergic IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of hydrogen peroxide metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of mitochondrial membrane potential IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of mitochondrial membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of mitophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of oxidative phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of proteasomal protein catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of protein complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of protein targeting to mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of protein targeting to mitochondrion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of reactive oxygen species metabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of reactive oxygen species metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of synaptic vesicle transport TAS
    Traceable Author Statement
    more info
    PubMed 
    respiratory electron transport chain IEA
    Inferred from Electronic Annotation
    more info
     
    response to oxidative stress IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    response to stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin-dependent protein catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Lewy body TAS
    Traceable Author Statement
    more info
    PubMed 
    colocalizes_with TORC2 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    astrocyte projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with mitochondrial outer membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    colocalizes_with mitochondrial outer membrane translocase complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with mitochondrion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    serine/threonine-protein kinase PINK1, mitochondrial
    Names
    PTEN-induced putative kinase protein 1
    protein kinase BRPK
    NP_115785.1

    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
      5001..23057
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032409.2NP_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
      Q9BXM7
      Related
      ENSP00000364204, OTTHUMP00000002881, ENST00000321556, OTTHUMT00000007954
      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: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      20633455..20651511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      21070747..21088823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)