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

PARK7 Gene

protein-coding   GIFtS: 69
GCID: GC01P008014

Parkinson Protein 7

(Previous names: Parkinson disease (autosomal recessive, early onset) 7)
Microbiology & Infectious 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
Parkinson Protein 71 2     DJ-12
Parkinson Disease (Autosomal Recessive, Early Onset) 71 2     Protein DJ-12
Oncogene DJ12 3     EC 3.4.-.-3
DJ12 5     Parkinson Disease Protein 73

External Ids:    HGNC: 163691   Entrez Gene: 113152   Ensembl: ENSG000001162887   OMIM: 6025335   UniProtKB: Q994973   

Export aliases for PARK7 gene to outside databases

Previous GC identifers: GC01U990455 GC01P007830 GC01P007618 GC01P007731 GC01P007956 GC01P007944 GC01P007169


(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 PARK7 Gene:
The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of
androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for
oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this
gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the
same protein have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for PARK7 Gene: 
PARK7 (parkinson protein 7) is a protein-coding gene. Diseases associated with PARK7 include amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, and park7-related parkinson disease, and among its related super-pathways are Electron Transport Chain and Synaptic vesicle cycle. GO annotations related to this gene include mRNA binding and protein homodimerization activity.

UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497
Function: Protects cells against oxidative stress and cell death. Plays a role in regulating expression or
stability of the mitochondrial uncoupling proteins SLC25A14 and SLC25A27 in dopaminergic neurons of the
substantia nigra pars compacta and attenuates the oxidative stress induced by calcium entry into the neurons via
L-type channels during pacemaking. Eliminates hydrogen peroxide and protects cells against hydrogen
peroxide-induced cell death. May act as an atypical peroxiredoxin-like peroxidase that scavenges hydrogen
peroxide. Following removal of a C-terminal peptide, displays protease activity and enhanced cytoprotective
action against oxidative stress-induced apoptosis. Stabilizes NFE2L2 by preventing its association with KEAP1 and
its subsequent ubiquitination. Binds to OTUD7B and inhibits its deubiquitinating activity. Enhances RELA nuclear
translocation. Binds to a number of mRNAs containing multiple copies of GG or CC motifs and partially inhibits
their translation but dissociates following oxidative stress. Required for correct mitochondrial morphology and
function and for autophagy of dysfunctional mitochondria. Regulates astrocyte inflammatory responses. Acts as a
positive regulator of androgen receptor-dependent transcription. Prevents aggregation of SNCA. Plays a role in
fertilization. Has no proteolytic activity. Has cell-growth promoting activity and transforming activity. May
function as a redox-sensitive chaperone

Gene Wiki entry for PARK7 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  NT_021937.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PARK7 gene promoter:
         PPAR-gamma1   POU2F1   SREBP-1a   AML1a   POU2F1a   SREBP-1c   PPAR-gamma2   Pax-4a   SREBP-1b   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPARK7 promoter sequence
   Search SABiosciences Chromatin IP Primers for PARK7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PARK7


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

Entrez Gene cytogenetic band: 1p36.23   Ensembl cytogenetic band:  1p36.23   HGNC cytogenetic band: 1p36.23

PARK7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PARK7 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P008014:  view genomic region     (about GC identifiers)

Start:
8,014,351 bp from pter      End:
8,045,565 bp from pter
Size:
31,215 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: PARK7_HUMAN, Q99497 (See protein sequence)
Recommended Name: Protein DJ-1 precursor  
Size: 189 amino acids; 19891 Da
Subunit: Homodimer. Binds EFCAB6/DJBP and PIAS2. Part of a ternary complex containing PARK7, EFCAB6/DJBP and AR.
Interacts (via N-terminus) with OTUD7B. Interacts with BBS1, HIPK1, CLCF1 and MTERF
Subcellular location: Cytoplasm. Nucleus. Mitochondrion. Note=Under normal conditions, located predominantly in
the cytoplasm and, to a lesser extent, in the nucleus and mitochondrion. Translocates to the mitochondrion and
subsequently to the nucleus in response to oxidative stress and exerts an increased cytoprotective effect against
oxidative damage. Detected in tau inclusions in brains from neurodegenerative disease patients
6/26 PDB 3D structures from and Proteopedia for PARK7 (see all 26):
1J42 (3D)        1P5F (3D)        1PDV (3D)        1PDW (3D)        1PE0 (3D)        1Q2U (3D)    
Secondary accessions: B2R4Z1 O14805 Q6DR95 Q7LFU2

Explore the universe of human proteins at neXtProt for PARK7: NX_Q99497

Explore proteomics data for PARK7 at MOPED 

Post-translational modifications:

  • UniProtKB: Sumoylated on Lys-130 by PIAS2 or PIAS4; which is enhanced after ultraviolet irradiation and essential for
    cell-growth promoting activity and transforming activity
  • UniProtKB: Cys-106 is easily oxidized to sulfinic acid
  • UniProtKB: Undergoes cleavage of a C-terminal peptide and subsequent activation of protease activity in response to oxidative
    stress
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99497

  • PARK7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PARK7 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001116849.1  NP_009193.2  

    ENSEMBL proteins: 
     ENSP00000465404   ENSP00000340278   ENSP00000418770   ENSP00000466242   ENSP00000366711  
     ENSP00000366708   ENSP00000466756  

    Human Recombinant Protein Products for PARK7: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for PARK7
    OriGene Protein Over-expression Lysate for PARK7
    OriGene MassSpec for PARK7 
    OriGene Custom Protein Services for PARK7
    GenScript Custom Purified and Recombinant Proteins Services for PARK7
    Novus Biologicals PARK7 Proteins
    Novus Biologicals PARK7 Lysates
    Sino Biological Recombinant Protein for PARK7
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for PARK7
    Cloud-Clone Corp. Proteins for PARK7 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11477070
    GO:0005737cytoplasm IDA12446870
    GO:0005739mitochondrion IDA18711745

    PARK7 for ontologies           About GeneDecksing



    PARK7 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of PARK7
    R&D Systems Antibodies for PARK7 (Park7/DJ-1)
    Cell Signaling Technology (CST) Antibodies for PARK7  (DJ-1)
    OriGene Antibodies for PARK7
    OriGene Custom Antibody Services for PARK7
    GenScript Superior Antibodies for PARK7
    Novus Biologicals PARK7 Antibodies
    Abcam antibodies for PARK7
    Cloud-Clone Corp. Antibodies for PARK7 
    ThermoFisher Antibody for PARK7
    LSBio Antibodies in human, mouse, rat for PARK7 

    Assay Products for PARK7: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PARK7
    R&D Systems ELISAs for PARK7 (Park7/DJ-1)
    GenScript Custom Assay Services for PARK7
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PARK7 
    Cloud-Clone Corp. CLIAs for PARK7


    (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

    2 InterPro protein domains:
     IPR006287 DJ1
     IPR002818 ThiJ/PfpI

    Graphical View of Domain Structure for InterPro Entry Q99497

    ProtoNet protein and cluster: Q99497

    1 Blocks protein domain: IPB002818 Family of unknown function ThiJ/PfpI

    UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497
    Similarity: Belongs to the peptidase C56 family


    PARK7 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: PARK7_HUMAN, Q99497
    Function: Protects cells against oxidative stress and cell death. Plays a role in regulating expression or
    stability of the mitochondrial uncoupling proteins SLC25A14 and SLC25A27 in dopaminergic neurons of the
    substantia nigra pars compacta and attenuates the oxidative stress induced by calcium entry into the neurons via
    L-type channels during pacemaking. Eliminates hydrogen peroxide and protects cells against hydrogen
    peroxide-induced cell death. May act as an atypical peroxiredoxin-like peroxidase that scavenges hydrogen
    peroxide. Following removal of a C-terminal peptide, displays protease activity and enhanced cytoprotective
    action against oxidative stress-induced apoptosis. Stabilizes NFE2L2 by preventing its association with KEAP1 and
    its subsequent ubiquitination. Binds to OTUD7B and inhibits its deubiquitinating activity. Enhances RELA nuclear
    translocation. Binds to a number of mRNAs containing multiple copies of GG or CC motifs and partially inhibits
    their translation but dissociates following oxidative stress. Required for correct mitochondrial morphology and
    function and for autophagy of dysfunctional mitochondria. Regulates astrocyte inflammatory responses. Acts as a
    positive regulator of androgen receptor-dependent transcription. Prevents aggregation of SNCA. Plays a role in
    fertilization. Has no proteolytic activity. Has cell-growth promoting activity and transforming activity. May
    function as a redox-sensitive chaperone
    Biophysicochemical properties: Kinetic parameters: KM=173.4 uM for casein;
    Induction: By hydrogen peroxide and UV irradiation

         Enzyme Number (IUBMB): EC 3.4.-.-1

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003729mRNA binding IDA18626009
    GO:0004601peroxidase activity ISS--
    GO:0005515protein binding IPI11477070
    GO:0008233peptidase activity IDA--
    GO:0042803protein homodimerization activity IDA18711745
         
    PARK7 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PARK7:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Park7):
     behavior/neurological  cellular  growth/size  homeostasis/metabolism  nervous system 

    PARK7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PARK7: Park7tm1Cai Park7tm1Tmd Park7tm1Xz Park7tm1Shn Park7tm1Dsp

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PARK7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PARK7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PARK7 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PARK7 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PARK7
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PARK7
    SwitchGear 3'UTR luciferase reporter plasmidPARK7 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PARK7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PARK7

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PARK7
    Sirion Biotech Customized adenovirus for overexpression of PARK7

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for PARK7 (see all 13)
    OriGene ORF clones in mouse, rat for PARK7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PARK7 (NM_007262)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PARK7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PARK7
    Sirion Biotech Customized lentivirus for stable overexpression of PARK7 
                         Customized lentivirus expression plasmids for stable overexpression of PARK7 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PARK7
    Search LifeMap BioReagents cell lines for PARK7
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PARK7


    (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 PARK7 About   (see all 9)                                                                                              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
    2Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    3TNF Signaling
    Death Receptor Signaling0.50
    4CDK-mediated phosphorylation and removal of Cdc6
    Parkinson's Disease Pathway0.31
    5Parkinsons Disease Pathway
    Parkinsons Disease Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for PARK7
        Parkinson's Disease Pathway

    2 Cell Signaling Technology (CST) Pathways for PARK7
        Neuroscience
    PI3K / Akt Signaling

    4 BioSystems Pathways for PARK7
        Parkinsons Disease Pathway
    Androgen receptor signaling pathway
    Synaptic Vesicle Pathway
    Alpha-synuclein signaling

    1 Sino Biological Pathway for PARK7 
        Death Receptor Signaling


    1         Kegg Pathway  (Kegg details for PARK7):
        Parkinson's disease


    PARK7 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PARK7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    69/75 Interacting proteins for PARK7 (Q994971, 2, 3 ENSP000003402784) via UniProtKB, MINT, STRING, and/or I2D (see all 75) (see top 5)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206206Q9UER71, 3EBI-1164361,EBI-77321 I2D: score=2 
    ENSG00000206279Q9UER71, 3EBI-1164361,EBI-77321 I2D: score=2 
    ENSG00000227046Q9UER71, 3EBI-1164361,EBI-77321 I2D: score=2 
    ENSG00000231617Q9UER71, 3EBI-1164361,EBI-77321 I2D: score=2 
    MTA2O947761, 3, ENSP000002788234EBI-1164361,EBI-1783035 I2D: score=2 STRING: ENSP00000278823
    OTUD7BQ6GQQ91, 3, ENSP000003581314EBI-1164361,EBI-527784 I2D: score=2 STRING: ENSP00000358131
    ARP102751, 3, ENSP000003638224EBI-1164361,EBI-608057 I2D: score=1 STRING: ENSP00000363822
    DAXXQ9UER71, 3, ENSP000003968764EBI-1164361,EBI-77321 I2D: score=2 STRING: ENSP00000396876 STRING: ENSP00000266000
    PPP2R1AP301533, ENSP000003248044I2D: score=3 STRING: ENSP00000324804
    PPP2R1BP301543, ENSP000003113444I2D: score=3 STRING: ENSP00000311344
    BABAM1Q9NWV83, ENSP000003524084I2D: score=2 STRING: ENSP00000352408
    MBD3O959833, ENSP000001568254I2D: score=2 STRING: ENSP00000156825
    MTA1Q133303, ENSP000003336334I2D: score=2 STRING: ENSP00000333633
    RBBP4Q090283, ENSP000003625924I2D: score=2 STRING: ENSP00000362592
    RBBP7Q165763, ENSP000003694274I2D: score=2 STRING: ENSP00000369427
    UBA2Q9UBT23, ENSP000002465484I2D: score=2 STRING: ENSP00000246548
    UBE2IP632793, ENSP000003248974I2D: score=2 STRING: ENSP00000324897
    USP19O949663, ENSP000003818634I2D: score=2 STRING: ENSP00000381863
    BAXQ078123, ENSP000002932884I2D: score=1 STRING: ENSP00000293288
    BCL2L1Q078173, ENSP000003025644I2D: score=1 STRING: ENSP00000302564
    CHD2O146473, ENSP000003777474I2D: score=1 STRING: ENSP00000377747
    LIN37Q96GY33, ENSP000003011594I2D: score=1 STRING: ENSP00000301159
    LIN54Q6MZP73, ENSP000003419474I2D: score=1 STRING: ENSP00000341947
    MTRF1O755703, ENSP000003687904I2D: score=1 STRING: ENSP00000368790
    PARK2O602603, ENSP000003558654I2D: score=1 STRING: ENSP00000355865
    PITX3O753643, ENSP000003590194I2D: score=1 STRING: ENSP00000359019
    SLX4Q8IY923, ENSP000002940084I2D: score=1 STRING: ENSP00000294008
    SOD1P004413, ENSP000002701424I2D: score=1 STRING: ENSP00000270142
    STUB1Q9UNE73, ENSP000002195484I2D: score=1 STRING: ENSP00000219548
    PIAS2O759283, ENSP000003816484I2D: score=3 STRING: ENSP00000381648
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    HSPA4P349323, ENSP000003029614I2D: score=1 STRING: ENSP00000302961
    SUMO1P631653, ENSP000003760764I2D: score=2 STRING: ENSP00000376076
    FADDQ131581, ENSP000003018384EBI-1164361,EBI-494804 STRING: ENSP00000301838
    HDAC1Q135473, ENSP000003626494I2D: score=2 STRING: ENSP00000362649
    CHD4Q148393, ENSP000003495084I2D: score=1 STRING: ENSP00000349508
    CLCF1Q9UBD93, ENSP000003093384I2D: score=1 STRING: ENSP00000309338
    EFCAB6Q5THR33, ENSP000002627264I2D: score=2 STRING: ENSP00000262726
    GATAD2BQ8WXI93, ENSP000003576444I2D: score=2 STRING: ENSP00000357644
    HDAC2Q927693, ENSP000003813314I2D: score=2 STRING: ENSP00000381331
    BBS1Q8NFJ93I2D: score=2 
    ATG14Q6ZNE53I2D: score=1 
    ATG5Q9H1Y03I2D: score=1 
    CLN3Q132863I2D: score=1 
    DDIT3P356383I2D: score=1 
    FOXO3O435243I2D: score=1 
    GBASO753233I2D: score=1 
    IL7RP168713I2D: score=1 
    KCNMA1Q127913I2D: score=1 
    NRBF2Q96F243I2D: score=1 
    NSFP464593I2D: score=1 
    PRKAG2Q9UGJ03I2D: score=1 
    SLC2A4P146723I2D: score=1 
    STK11Q158313I2D: score=1 
    TECPR1Q7Z6L13I2D: score=1 
    TRAF2Q129333I2D: score=1 
    TRAF6Q9Y4K33I2D: score=1 
    UBA5Q9GZZ93I2D: score=1 
    UVRAGQ9P2Y53I2D: score=1 
    WDR45Q9Y4843I2D: score=1 
    WIPI2Q9Y4P83I2D: score=1 
    ABL1P005192MINT-8433093
    KIF1BO603332MINT-8433111
    DPP3ENSP000003537014STRING: ENSP00000353701
    SNCAENSP000003383454STRING: ENSP00000338345
    NONOENSP000002760794STRING: ENSP00000276079
    TNFRSF10AENSP000002211324STRING: ENSP00000221132
    RPS20ENSP000000095894STRING: ENSP00000009589
    KNCNENSP000003796074STRING: ENSP00000379607
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001963synaptic transmission, dopaminergic ----
    GO:0006508proteolysis IEA--
    GO:0006914autophagy IEA--
    GO:0006950response to stress ----
    GO:0006954inflammatory response IEA--

    PARK7 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

    PARK7 for compounds           About GeneDecksing

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

    Browse Tocris compounds for PARK7

    1 DrugBank Compound for PARK7    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Double Oxidized Cysteine-- --target--17139284 17016423

    10/17 Novoseek inferred chemical compound relationships for PARK7 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    e 64d 76.3 9 15365989 (3), 17451229 (1), 20186336 (1), 15663963 (1)
    sulfinic acid 59.7 3 16403519 (2), 16181642 (1)
    rotenone 56 8 18377993 (3), 16439141 (2), 16854843 (2), 18930142 (1)
    6-hydroxydopamine 51.9 8 18377993 (3), 18974921 (1), 16860563 (1), 16227205 (1) (see all 5)
    dopamine 46.9 33 16978583 (4), 18974921 (4), 19703902 (3), 16227205 (2) (see all 9)
    cysteine 34.6 35 16316629 (3), 19124468 (2), 16935423 (2), 18570440 (2) (see all 13)
    h2o2 30.8 20 16935423 (2), 15081400 (2), 20046643 (2), 14652021 (1) (see all 10)
    levodopa 29.9 1 19703902 (1)
    oxygen 17.5 13 16403519 (1), 16115732 (1), 18430896 (1), 15219840 (1) (see all 12)
    pyrimidine 14.5 4 16731528 (2), 15790595 (1), 18689799 (1)

    Search CenterWatch for drugs/clinical trials and news about PARK7

    (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,
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    About This Section

    REFSEQ mRNAs for PARK7 gene (2 alternative transcripts): 
    NM_001123377.1  NM_007262.4  

    Unigene Cluster for PARK7:

    Parkinson protein 7
    Hs.419640  [show with all ESTs]
    Unigene Representative Sequence: BF965121
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493373 ENST00000460192 ENST00000338639(uc001aou.4 uc001aox.4 uc001aov.4)
    ENST00000493678 ENST00000377493 ENST00000465354 ENST00000377491 ENST00000377488
    ENST00000497113 ENST00000469225
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB073864.1 AF021819.1 AK130886.1 AK312000.1 BC008188.2 D61380.2 

    24/30 DOTS entries (see all 30):

    DT.100864956  DT.448826  DT.91912005  DT.100864954  DT.100864946  DT.99944190  DT.91858715  DT.100723157 
    DT.121340910  DT.95171052  DT.100864949  DT.100864951  DT.100864952  DT.95171053  DT.91717622  DT.95171037 
    DT.100864945  DT.100864955  DT.121340885  DT.121340900  DT.121340908  DT.121340933  DT.121340949  DT.91778970 

    24/818 AceView cDNA sequences (see all 818):

    AA908891 BE515210 BF094931 BU521162 BI826586 AL558174 BM014914 BQ953110 
    CR616157 AA664387 BX324483 AA312271 H95132 BM739800 BM985360 BI856917 
    BM825330 BG754603 W67123 AA039589 AI870594 AA602784 BM972739 CD672896 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for PARK7 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
    SP1:                    -     -     -     -                                         -     -                                 
    SP2:                          -     -     -                                         -     -                                 
    SP3:                                                                                -     -                                 
    SP4:                    -     -     -     -                 -     -                 -     -                                 
    SP5:                                      -                                         -     -                                 


    ECgene alternative splicing isoforms for PARK7

    (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

    PARK7 expression in normal human tissues (normalized intensities)      PARK7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATAGGTTT
    PARK7 Expression
    About this image


    PARK7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain

    See PARK7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PARK7

    SOURCE GeneReport for Unigene cluster: Hs.419640

    UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497
    Tissue specificity: Highly expressed in pancreas, kidney, skeletal muscle, liver, testis and heart. Detected at
    slightly lower levels in placenta and brain. Detected in astrocytes, Sertoli cells, spermatogonia, spermatids and
    spermatozoa

        SABiosciences Expression via Pathway-Focused PCR Arrays including PARK7: 
              Parkinson's Disease in human mouse rat
              Oxidative Stress in human mouse rat
              Autophagy in human mouse rat

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    (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 eukaryotes.

    Orthologs for PARK7 gene from 8/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Park71 , 5 Parkinson disease (autosomal recessive, early onset) more1, 5 84.3(n)1
    91.53(a)1
      4 (81.52 cM)5
    573201  NM_020569.31  NP_065594.21 
     1508971335 
    chicken
    (Gallus gallus)
    Aves PARK71 Parkinson disease (autosomal recessive, early onset) more 79.37(n)
    89.95(a)
      395277  NM_204585.1  NP_989916.1 
    lizard
    (Anolis carolinensis)
    Reptilia PARK76
    Uncharacterized protein
    86(a)
    1 ↔ 1
    GL344178.1(17994-24787)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.114132 Xenopus laevis SP22 mRNA, complete cds 77.13(n)    AF394958.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.155302 Transcribed sequence with moderate similarity to protein more 74.28(n)    BM317196.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta DJ-1alpha1 CG6646-PA 54.8(n)
    57.06(a)
      36543  NM_137072.1  NP_610916.1 
    worm
    (Caenorhabditis elegans)
    Secernentea djr-1.11 Protein DJR-1.1 57.3(n)
    54.05(a)
      173416  NM_061295.5  NP_493696.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g02178001 hypothetical protein 47.99(n)
    39.56(a)
      4324581  NM_001048942.1  NP_001042407.2 


    ENSEMBL Gene Tree for PARK7 (if available)
    TreeFam Gene Tree for PARK7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PARK7 gene

    PARK7 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PARK7
    PGOHUM00000239770 PGOHUM00000236716


    (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

    10/593 SNPs in PARK7 are shown (see all 593)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0204934
    Parkinson disease 7 (PARK7)4--see VAR_0204932 E D mis40--------
    VAR_0204924
    Parkinson disease 7 (PARK7)4--see VAR_0204922 M I mis40--------
    VAR_0204954
    Parkinson disease 7 (PARK7)4--see VAR_0204952 A T mis40--------
    rs743153521,2,4
    C,FParkinson disease 7 (PARK7)4 pathogenic18062522(+) AAAAGA/CCGGCC 4 D A mis11Minor allele frequency- C:0.00NA 4552
    rs289381721,2,4
    CParkinson disease 7 (PARK7)4 pathogenic18062573(+) TGCGCC/TTGCAA 4 P L mis10--------
    rs743153511,2
    Cpathogenic18040457(+) GTCATA/GAGGCG 4 I M mis10--------
    rs743153531,2
    Cpathogenic18043019(+) AAAGAC/GGTTTG 4 D E mis10--------
    VAR_0204974
    ----see VAR_0204972 G S mis40--------
    VAR_0204994
    ----see VAR_0204992 A S mis40--------
    VAR_0348014
    ----see VAR_0348012 E K mis40--------

    HapMap Linkage Disequilibrium report for PARK7 (8014351 - 8045565 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PARK7:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv1521CNV Insertion18451855
    nsv871360CNV Gain21882294


    Human Gene Mutation Database (HGMD): PARK7

    Locus Specific Mutation Databases (LSDB): PARK7
    1 SABiosciences Cancer Mutation PCR Assay for PARK7:
    Cosmic IdAA Change
    98000118
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    (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: 602533   
    OMIM disorders: 606324  
    UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497
  • Parkinson disease 7 (PARK7) [MIM:606324]: A neurodegenerative disorder characterized by resting tremor,
    postural tremor, bradykinesia, muscular rigidity, anxiety and psychotic episodes. PARK7 has onset before 40
    years, slow progression and initial good response to levodopa. Some patients may show traits reminiscent of
    amyotrophic lateral sclerosis-parkinsonism/dementia complex (Guam disease). Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/66 diseases for PARK7 (see all 66):    About MalaCards
    amyotrophic lateral sclerosis-parkinsonism/dementia complex 1    park7-related parkinson disease    parkinson disease 7, autosomal recessive early-onset    parkinson's disease
    spinocerebellar ataxia type 17    tauopathy    inclusion body myositis    clear cell renal cell carcinoma
    laryngeal carcinoma    myositis    multiple system atrophy    brachydactyly
    hepatitis b virus infection    corneal dystrophy    dementia    pick's disease
    tremor    laryngitis    was-related disorders    spinocerebellar ataxia

    1 disease from the University of Copenhagen DISEASES database for PARK7:
    Parkinson's disease

    PARK7 for disorders           About GeneDecksing


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

    10/20 Novoseek inferred disease relationships for PARK7 gene (see all 20)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parkinson disease 89.2 181 20157014 (6), 14662519 (5), 15219840 (4), 14707326 (3) (see all 99)
    autosomal recessive parkinsonism 87.5 12 14638971 (3), 19429112 (2), 17914725 (1), 19297401 (1) (see all 7)
    parkinsonism 85.4 87 19429112 (5), 15565491 (2), 19124468 (2), 15542239 (2) (see all 47)
    parkinsonism juvenile autosomal recessive 81 10 14652021 (1), 14745011 (1), 17268184 (1), 19243613 (1) (see all 8)
    parkinson disease, autosomal dominant 76.4 2 15717024 (1)
    neurodegenerative diseases 74.9 18 19686841 (2), 14705119 (2), 17719794 (2), 18930142 (1) (see all 12)
    neurodegeneration 65.1 11 14712351 (2), 19023331 (1), 16115732 (1), 16439141 (1) (see all 9)
    movement disorders 64 1 18704525 (1)
    tauopathies 57.9 8 14991385 (2), 15935068 (1), 17085780 (1), 14705119 (1)
    lewy body disease 38.6 1 14625045 (1)

    GeneTests: PARK7
    GeneReviews: PARK7
    Genetic Association Database (GAD): PARK7
    Human Genome Epidemiology (HuGE) Navigator: PARK7 (24 documents)

    Export disorders for PARK7 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 PARK7 gene, integrated from 9 sources (see all 404):
    (articles sorted by number of sources associating them with PARK7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. (PubMed id 14872018)1, 2, 4, 9 Hedrich K.... Klein C. (2004)
    2. DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in cooperation with ras. (PubMed id 9070310)1, 2, 3, 9 Nagakubo D.... Ariga H. (1997)
    3. Mitochondrial localization of DJ-1 leads to enhanced neuroprotection. (PubMed id 18711745)1, 2, 9 Junn E....Mouradian M.M. (2009)
    4. The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. (PubMed id 14662519)1, 2, 9 Bandopadhyay R.... Lees A.J. (2004)
    5. DJ-1 interacts with HIPK1 and affects H2O2-induced cell death. (PubMed id 16390825)1, 2, 9 Sekito A....Ariga H. (2006)
    6. The 1.1-A resolution crystal structure of DJ-1, the protein mutated in autosomal recessive early onset Parkinson's disease. (PubMed id 12855764)1, 2, 9 Wilson M.A.... Petsko G.A. (2003)
    7. A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo- oligomerization. (PubMed id 14713311)1, 2, 9 Moore D.J.... Dawson V.L. (2003)
    8. Crystal structure of DJ-1/RS and implication on familial Parkinson's disease. (PubMed id 12914946)1, 2, 9 Huai Q.... Ke H. (2003)
    9. Molecular cloning of human and mouse DJ-1 genes and identification of Sp1-dependent activation of the human DJ-1 promoter. (PubMed id 11223268)1, 2, 9 Taira T.... Ariga H. (2001)
    10. Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonism. (PubMed id 19429112)1, 4, 9 Tomiyama H....Hattori N. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 11315 HGNC: 16369 AceView: PARK7 Ensembl:ENSG00000116288 euGenes: HUgn11315
    ECgene: PARK7 Kegg: 11315 H-InvDB: PARK7

    (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 PARK7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PARK7 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PARK7
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=P&genename=PARK7+%40+DJ-1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PARK7 gene:
    Search GeneIP for patents involving PARK7

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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