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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PINK1 Gene

protein-coding   GIFtS: 68
GCID: GC01P020959

PTEN Induced Putative Kinase 1

(Previous name: Parkinson disease (autosomal recessive) 6)
(Previous symbol: PARK6)
Alzheimer's & Parkinson's Diseases Congress
  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Electron Transport Chain and SCF(Skp2)-mediated degradation of p27/p21. 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). It
is necessary for PARK2 recruitment to dysfunctional mitochondria to initiate their degradation

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004610.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PINK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion outer membrane; Single-pass membrane protein. Cytoplasm, cytosol
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:

  • UniProtKB: Autophosphorylation at Ser-228 and Ser-402 is essential for Parkin/PARK2 recruitment to depolarized mitochondria
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BXM7

  • PINK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PINK1 Protein Expression
    REFSEQ proteins: NP_115785.1  
    ENSEMBL proteins: 
     ENSP00000364204  

    Human Recombinant Protein Products for PINK1: 
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    Cloud-Clone Corp. Proteins for PINK1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA15087508
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005829cytosol IDA19880420
    GO:0016021integral to membrane IEA--

    PINK1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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_cat_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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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). It
    is necessary for PARK2 recruitment to dysfunctional mitochondria to initiate their degradation
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Number (IUBMB): EC 2.7.11.11

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (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  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 - Custom generated mouse model solutions for PINK1 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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 disease0.61
    2CDK-mediated phosphorylation and removal of Cdc6
    Parkinson's Disease Pathway0.31
    3Neuroscience
    Neuroscience
    4Parkinsons Disease Pathway
    Parkinsons Disease Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN 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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PINK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    8/22 Interacting proteins for PINK1 (Q9BXM71, 2, 3 ENSP000003642044) via UniProtKB, MINT, STRING, and/or I2D (see all 22) (see top 5)
    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
    MAP1LC3BQ9GZQ82, 3, ENSP000002686074MINT-7557195 MINT-7557109 MINT-7557173 I2D: score=1 STRING: ENSP00000268607
    PTENP604843, ENSP000003610214I2D: score=1 STRING: ENSP00000361021
    RHOT1Q8IXI21, ENSP000003511324EBI-2846068,EBI-1396430 STRING: ENSP00000351132
    BECN1Q144573I2D: score=1 
    YWHAZP631043I2D: score=1 
    TRAP1ENSP000002469574STRING: ENSP00000246957
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000422mitochondrion degradation IMP--
    GO:0006468protein phosphorylation IDA14607334
    GO:0006950response to stress IDA15087508
    GO:0007243intracellular protein kinase cascade IDA14607334
    GO:0008219cell death IEA--

    PINK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PINK1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about PINK1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/368 AceView cDNA sequences (see all 368):

    N75032 AW167936 AW163235 CB215266 CR601045 BQ888270 CD558848 AL042585 
    AA629236 AI424391 BM352779 CF131513 BQ672284 AI536608 BF448942 BE531293 
    CD679228 CB122562 CR597726 AA879128 BU751789 CB153545 BF196557 BG055986 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PINK1 expression in normal human tissues (normalized intensities)      PINK1 embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Medulla Oblongata
             ganglion/cranial   
     
     Eye (Sensory Organs)
             Retina
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Peripheral Nervous System (Nervous System)

     -- (Nervous System)
             mouse/organ system/nervous system/central nervous system   

    See PINK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PINK1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including PINK1: 
              Parkinson's Disease in human mouse rat
              Autophagy in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PINK1 gene from 5/13 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_423139.3  XP_423139.3 
    zebrafish
    (Danio rerio)
    Actinopterygii pink11 PTEN induced putative kinase 1 58.45(n)
    56.61(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
    Protein PINK-11 31(a)3
    43.93(n)1
    35.73(a)1
      II(5393440-5395652)3
    1739181  NM_062616.31  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
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/714 SNPs in PINK1 are shown (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_0465744
    Parkinson disease 6 (PARK6)4--see VAR_0465742 R H 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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PINK1
    DNA2.0 Custom Variant and Variant Library Synthesis for PINK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

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

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

    PINK1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for PINK1 gene, integrated from 9 sources (see all 326):
    (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. (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. (2005)
    3. PINK1 (PARK6) associated Parkinson disease in Ireland. (PubMed id 15505171)1, 2, 4, 9 Healy D.G.... Lynch T. (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. (2004)
    5. PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. (PubMed id 18330912)1, 2, 4 Marongiu R.... Valente E.M. (2008)
    6. PINK1 mutations in sporadic early-onset Parkinson's disease. (PubMed id 16482571)1, 2, 4 Tan E.-K.... Tan L. (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. (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. (2006)
    9. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. (PubMed id 16009891)1, 2, 4 Bonifati V.... Oostra B.A. (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. (2001)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 65018 HGNC: 14581 AceView: PINK1 Ensembl:ENSG00000158828 euGenes: HUgn65018
    ECgene: PINK1 Kegg: 65018 H-InvDB: PINK1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/PINK1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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