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PINK1 Gene

protein-coding   GIFtS: 67
GCID: GC01P020959

PTEN Induced Putative Kinase 1

(Previous name: Parkinson disease (autosomal recessive) 6)
(Previous symbol: PARK6)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
PTEN Induced Putative Kinase 11 2     Parkinson Disease (Autosomal Recessive) 61
PARK61 2 5     Protein Kinase BRPK2
BRPK2 3     Serine/Threonine-Protein Kinase PINK1, Mitochondrial2
PTEN-Induced Putative Kinase Protein 12 3     EC 2.7.11.13

External Ids:    HGNC: 145811   Entrez Gene: 650182   Ensembl: ENSG000001588287   OMIM: 6083095   UniProtKB: Q9BXM73   

Export aliases for PINK1 gene to outside databases

Previous GC identifers: GC01P020530 GC01P019995 GC01P020105 GC01P020429 GC01P020705 GC01P020832 GC01P019206


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PINK1 Gene:
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)

GeneCards Summary for PINK1 Gene:
PINK1 (PTEN induced putative kinase 1) is a protein-coding gene. Diseases associated with PINK1 include parkinson disease 6, early onset, and pink1 type of young-onset parkinson disease. GO annotations related to this gene include protein serine/threonine kinase activity and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7
Function: Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating
mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy).
Targets PARK2 to dysfunctional depolarized mitochondria through the phosphorylation of MFN2

Gene Wiki entry for PINK1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the PINK1 gene promoter:
         NF-1/L   NF-1   LHX3b/Lhx3b   AP-1   SREBP-1c   ATF-2   SREBP-1b   SREBP-1a   LHX3a/Lhx3a   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for PINK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PINK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.12

PINK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PINK1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P020959:  view genomic region     (about GC identifiers)

Start:
20,959,948 bp from pter      End:
20,978,004 bp from pter
Size:
18,057 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase PINK1, mitochondrial precursor  
Size: 581 amino acids; 62769 Da
Cofactor: Magnesium
Subunit: Interacts with PARK2. Interacts with FBXO7
Secondary accessions: Q8N6T9 Q8NBU3 Q96DE4
Alternative splicing: 2 isoforms:  Q9BXM7-1   Q9BXM7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PINK1: NX_Q9BXM7

Explore proteomics data for PINK1 at MOPED

Post-translational modifications: 

  • Autophosphorylation at Ser-228 and Ser-402 is essential for Parkin/PARK2 recruitment to depolarized mitochondria1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PINK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115785.1  
    ENSEMBL proteins: 
     ENSP00000364204  

    PINK1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PINK1
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    Novus Biologicals PINK1 Proteins
    Novus Biologicals PINK1 Lysates
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    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for PINK1
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    PINK1 Antibody Products:

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    PINK1 Assay Products:

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    GenScript Custom Assay Services for PINK1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PINK1
    Cloud-Clone Corp. CLIAs for PINK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PARK: Parkinson disease

    IUPHAR Guide to PHARMACOLOGY protein family classification: PTEN induced putative kinase 1
    NKF2 family

    3 InterPro protein domains:
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry Q9BXM7

    ProtoNet protein and cluster: Q9BXM7

    UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7
    Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family
    Similarity: Contains 1 protein kinase domain


    PINK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PINK1_HUMAN, Q9BXM7
    Function: Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating
    mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy).
    Targets PARK2 to dysfunctional depolarized mitochondria through the phosphorylation of MFN2
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Number (IUBMB): EC 2.7.11.11

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA14607334
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA14607334
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI--
         
    PINK1 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for PINK1:
     Decreased viability  Increased 8N DNA content  Increased cell size  Increased cell spreading 
     Synthetic lethal with Ras  Wnt reporter downregulated 

         9 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Pink1):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     immune system  nervous system  no phenotypic analysis  taste/olfaction 

    PINK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PINK1: Pink1tm1Zhzh Pink1tm1Vbae Pink1tm1Hlw Pink1tm1Shn Pink1tm1.1Wrst Pink1tm1Hbu
                                                         Pink1tm1Ncw

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PINK1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PINK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PINK1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PINK1

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    2 qRT-PCR Assays for microRNAs that regulate PINK1:
    hsa-miR-222* hsa-miR-532-3p
    SwitchGear 3'UTR luciferase reporter plasmidPINK1 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PINK1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PINK1_HUMAN, Q9BXM7: Mitochondrion outer membrane; Single-pass membrane protein. Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    mitochondrion5

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA15087508
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005829cytosol IDA19880420
    GO:0016021integral component of membrane IEA--

    PINK1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PINK1 About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.57
    2CDK-mediated phosphorylation and removal of Cdc6
    Parkinson's Disease Pathway0.31
    3Parkinsons Disease Pathway
    Parkinsons Disease Pathway
    4Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show some pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PINK1
        Parkinson's Disease Pathway

    1 Cell Signaling Technology (CST) Pathway for PINK1
        Neuroscience

    1 BioSystems Pathway for PINK1
        Parkinsons Disease Pathway



    1 Kegg Pathway  (Kegg details for PINK1):
        Parkinson's disease


    PINK1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PINK1: 
              Parkinson's Disease in human mouse rat
              Autophagy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PINK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for PINK1 (Q9BXM71, 2, 3 ENSP000003642044) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TOMM20Q153882, 3, ENSP000003555664MINT-7557121 MINT-7557138 I2D: score=1 STRING: ENSP00000355566
    PARK2O602602, 3, ENSP000003558654MINT-7557138 I2D: score=2 STRING: ENSP00000355865
    MAP1LC3BQ9GZQ81, 2, 3, ENSP000002686074EBI-2846068,EBI-373144 MINT-7557195 MINT-7557109 MINT-7557173 I2D: score=1 STRING: ENSP00000268607
    PTENP604843, ENSP000003610214I2D: score=1 STRING: ENSP00000361021
    RHOT1Q8IXI21, ENSP000003511324EBI-2846068,EBI-1396430 STRING: ENSP00000351132
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000422mitochondrion degradation IMP--
    GO:0006468protein phosphorylation IDA14607334
    GO:0006950response to stress IDA15087508
    GO:0008219cell death IEA--
    GO:0016567protein ubiquitination IMP--

    PINK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PINK1

    3 HMDB Compounds for PINK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--

    6 Novoseek inferred chemical compound relationships for PINK1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    levodopa 53.4 2 18307263 (1), 16179113 (1)
    threonine 49.5 18 19087301 (2), 16672981 (1), 19270741 (1), 17000703 (1) (see all 12)
    dopamine 41.2 7 19895857 (1), 17563363 (1), 19694908 (1), 17713119 (1) (see all 8)
    serine 35.8 17 19087301 (2), 16672981 (1), 19270741 (1), 17000703 (1) (see all 11)
    atp 17.2 6 19546216 (1), 16966503 (1), 19242547 (1)
    methionine 0 1 16179113 (1)



    PINK1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PINK1 gene: 
    NM_032409.2  

    Unigene Cluster for PINK1:

    PTEN induced putative kinase 1
    Hs.389171  [show with all ESTs]
    Unigene Representative Sequence: AB053323
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321556(uc001bdm.3) ENST00000492302 ENST00000400490(uc001bdn.3)

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    hsa-miR-222* hsa-miR-532-3p
    SwitchGear 3'UTR luciferase reporter plasmidPINK1 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat PINK1

    Additional mRNA sequence: 

    AB053323.1 AF316873.1 BC009534.1 BC028215.1 

    16 DOTS entries:

    DT.95148807  DT.99990789  DT.445984  DT.100824921  DT.100801355  DT.100824919  DT.95226113  DT.100824908 
    DT.80100175  DT.86836539  DT.100824911  DT.100824917  DT.40191712  DT.95148814  DT.95148815  DT.86853366 

    Selected AceView cDNA sequences (see all 368):

    BU751789 AA879128 AI424391 BG055986 CD558848 BM352779 CB153545 BF448942 
    BU625739 AJ709870 CR601045 CB215266 CD679228 BF196557 N75032 CB118069 
    CB122562 BQ672284 AI536608 CF131513 BE531293 AA304888 AA551902 AL042585 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PINK1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
    SP1:              -                 -                                 
    SP2:                                -                                 
    SP3:                                                                  


    ECgene alternative splicing isoforms for PINK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PINK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCCTGGGC
    PINK1 Expression
    About this image


    PINK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Kidney (Urinary System)
     
     Thyroid (Endocrine System)
    PINK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PINK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.389171

    UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PINK1: 
              Parkinson's Disease in human mouse rat
              Autophagy in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for PINK1
    OriGene qSTAR qPCR primer pairs in human, mouse for PINK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PINK1
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    QuantiFast Probe-based Assays in human, mouse, rat PINK1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PINK1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PINK1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pink11 , 5 PTEN induced putative kinase 11, 5 81.98(n)1
    81.69(a)1
      4 (70.14 cM)5
    689431  NM_026880.21  NP_081156.21 
     1383134095 
    chicken
    (Gallus gallus)
    Aves PINK11 PTEN induced putative kinase 1 66.08(n)
    64.05(a)
      425370  XM_423139.4  XP_423139.3 
    zebrafish
    (Danio rerio)
    Actinopterygii pink11 PTEN induced putative kinase 1 58.32(n)
    57.48(a)
      494085  NM_001008628.1  NP_001008628.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG45233 protein kinase 43(a)   6C6   --
    worm
    (Caenorhabditis elegans)
    Secernentea EEED8.93
    pink-11
    pink-11 31(a)3
    43.7(n)1
    35.5(a)1
      II(5393440-5395652)3
    1739181  NM_062616.41  NP_495017.11 


    ENSEMBL Gene Tree for PINK1 (if available)
    TreeFam Gene Tree for PINK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PINK1 (see all 714)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0189944
    Parkinson disease 6 (PARK6)4--see VAR_0189942 G D mis40--------
    VAR_0465754
    Parkinson disease 6 (PARK6)4--see VAR_0465752 A P mis40--------
    VAR_0465774
    Parkinson disease 6 (PARK6)4--see VAR_0465772 P L mis40--------
    VAR_0465784
    Parkinson disease 6 (PARK6)4--see VAR_0465782 A D mis40--------
    VAR_0465964
    Parkinson disease 6 (PARK6)4--see VAR_0465962 C R mis40--------
    VAR_0465814
    Parkinson disease 6 (PARK6)4--see VAR_0465812 E K mis40--------
    VAR_0465994
    Parkinson disease 6 (PARK6)4--see VAR_0465992 E G mis40--------
    VAR_0465894
    Parkinson disease 6 (PARK6)4--see VAR_0465892 T M mis40--------
    VAR_0465844
    Parkinson disease 6 (PARK6)4--see VAR_0465842 L V mis40--------
    VAR_0627754
    Parkinson disease 6 (PARK6)4--see VAR_0627752 L P mis40--------

    HapMap Linkage Disequilibrium report for PINK1 (20959948 - 20978004 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PINK1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834369CNV Loss17160897
    nsv870827CNV Gain21882294

    Human Gene Mutation Database (HGMD): PINK1
    Locus Specific Mutation Databases (LSDB): PINK1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608309   
    OMIM disorders: 605909  
    UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7
  • Parkinson disease 6 (PARK6) [MIM:605909]: A neurodegenerative disorder characterized by parkinsonian
    signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifest additional symptoms
    including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptoms show diurnal
    fluctuation and can improve after sleep. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 16 diseases for PINK1:    
    About MalaCards
    parkinson disease 6, early onset    pink1 type of young-onset parkinson disease    parkinson disease 10    parkinson disease 1
    parkinson's disease    tremor    multiple system atrophy    alzheimer's disease
    dementia    multiple sclerosis    schizophrenia    neuronitis
    breast cancer    multiple myeloma    myeloma    prostatitis

    1 disease from the University of Copenhagen DISEASES database for PINK1:
    Parkinson's disease

    PINK1 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for PINK1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autosomal recessive parkinsonism 94.7 15 11462174 (1), 15955954 (1), 17989306 (1), 17914725 (1) (see all 12)
    parkinson disease 89.5 151 15596610 (5), 17499497 (4), 16702191 (3), 15349859 (3) (see all 84)
    parkinsonism 86.3 95 19087301 (4), 17713119 (4), 18546294 (3), 15349860 (3) (see all 51)
    neurodegenerative diseases 73.3 1 16702191 (1)
    movement disorders 71.9 2 16769864 (1), 18704525 (1)
    neurodegeneration 63.6 14 17579517 (1), 19631006 (1), 19780893 (1), 20012177 (1) (see all 8)
    muscle degeneration 51.2 4 16672981 (1), 16701203 (1), 18230723 (1)
    sterility male 41.7 6 16672981 (2), 16701203 (1), 20457924 (1)
    alzheimers disease 4.84 1 16702191 (1)

    GeneTests: PINK1
    GeneReviews: PINK1
    Genetic Association Database (GAD): PINK1
    Human Genome Epidemiology (HuGE) Navigator: PINK1 (54 documents)

    Export disorders for PINK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PINK1 gene, integrated from 10 sources (see all 341):
    (articles sorted by number of sources associating them with PINK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PINK1 mutations are associated with sporadic early-onset parkinsonism. (PubMed id 15349860)1, 2, 3, 4, 9 Valente E.M.... Bentivoglio A.R. (Ann. Neurol. 2004)
    2. PINK1, Parkin, and DJ-1 mutations in Italian patients with early- onset parkinsonism. (PubMed id 15970950)1, 2, 4, 9 Klein C.... Pramstaller P.P. (Eur. J. Hum. Genet. 2005)
    3. PINK1 (PARK6) associated Parkinson disease in Ireland. (PubMed id 15505171)1, 2, 4, 9 Healy D.G.... Lynch T. (Neurology 2004)
    4. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. (PubMed id 15596610)1, 2, 4, 9 Rogaeva E.... Singleton A.B. (Arch. Neurol. 2004)
    5. PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. (PubMed id 18330912)1, 2, 4 Marongiu R.... Valente E.M. (Hum. Mutat. 2008)
    6. PINK1 mutations in sporadic early-onset Parkinson's disease. (PubMed id 16482571)1, 2, 4 Tan E.-K.... Tan L. (Mov. Disord. 2006)
    7. Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. (PubMed id 16257123)1, 2, 4 Fung H.-C....Wu Y.-R. (Neurosci. Lett. 2006)
    8. A heterozygous effect for PINK1 mutations in Parkinson's disease? (PubMed id 16969854)1, 2, 4 Abou-Sleiman P.M.... Wood N.W. (Ann. Neurol. 2006)
    9. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. (PubMed id 16009891)1, 2, 4 Bonifati V.... Oostra B.A. (Neurology 2005)
    10. Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway. (PubMed id 11494141)1, 2, 3 Unoki M. and Nakamura Y. (Oncogene 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 65018 HGNC: 14581 AceView: PINK1 Ensembl:ENSG00000158828 euGenes: HUgn65018
    ECgene: PINK1 Kegg: 65018 H-InvDB: PINK1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PINK1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PINK1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PINK1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PINK1 gene:
    Search GeneIP for patents involving PINK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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