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PARK7 Gene

protein-coding   GIFtS: 71
GCID: GC01P008014

Parkinson Protein 7

(Previous names: Parkinson disease (autosomal recessive, early onset) 7)
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Aliases
for PARK7 gene

(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
Parkinson Protein 71 2     HEL-S-67p2
Parkinson Disease (Autosomal Recessive, Early Onset) 71 2     Epididymis Secretory Sperm Binding Protein Li 67p2
Oncogene DJ12 3     Protein DJ-12
DJ12 5     EC 3.4.-.-3
DJ-12     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


Summaries
for PARK7 gene

(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 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 park7-related parkinson disease, and parkinson disease 7, autosomal recessive early-onset. GO annotations related to this gene include peptidase activity 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. May regulate lipid rafts-dependent endocytosis in astrocytes and
neuronal cells

Gene Wiki entry for PARK7 Gene


Genomic Views
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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   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 plasmid: PARK7 promoter sequence
   Search Chromatin IP Primers for PARK7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

Proteins
for PARK7 gene

(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, and/or Cloud-Clone Corp.)
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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
Selected PDB 3D structures from and Proteopedia for PARK7 (see all 27):
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: 

  • Sumoylated on Lys-130 by PIAS2 or PIAS4; which is enhanced after ultraviolet irradiation and essential for
    cell-growth promoting activity and transforming activity1
  • Cys-106 is easily oxidized to sulfinic acid1
  • Undergoes cleavage of a C-terminal peptide and subsequent activation of protease activity in response to oxidative
    stress1
  • Ubiquitination2 at Lys41, Lys99, Lys148
  • Modification sites at PhosphoSitePlus

    • See PARK7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000465404   ENSP00000340278   ENSP00000418770   ENSP00000466242   ENSP00000366711  
     ENSP00000366708   ENSP00000466756  

    PARK7 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    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

    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
    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

    PARK7 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    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

    Domains /
    Families
    for PARK7 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 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


    Function
    for PARK7 gene

    (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.)
    About This Section

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    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. May regulate lipid rafts-dependent endocytosis in astrocytes and
    neuronal cells
    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): Selected molecular function terms (see all 7):    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/body  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: Let us create your new Knockout/Knockin mouse model for PARK7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:            		miRTarBase miRNAs that target PARK7:
    hsa-mir-92b-3p (MIRT040717), hsa-mir-222-3p (MIRT046823), hsa-mir-92a-3p (MIRT049137), hsa-mir-26b-5p (MIRT029955)

    Block miRNA regulation of human, mouse, rat PARK7 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PARK7
    SwitchGear 3'UTR luciferase reporter plasmid: PARK7 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for PARK7
    Predesigned siRNA for gene silencing in human, mouse, rat PARK7

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PARK7

    Clone
    Products:             		 OriGene clones in human, mouse for PARK7 (see all 12)
    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)
    Sino Biological Human cDNA Clone for PARK7
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PARK7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PARK7

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for PARK7
    Browse ESI BIO Cell Lines and PureStem Progenitors for PARK7 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PARK7


    Localization
    for PARK7 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

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    Subcellular locations from UniProtKB/Swiss-Prot
    PARK7_HUMAN, Q99497: Cell membrane; Lipid-anchor. Cytoplasm. Nucleus. Membrane raft. 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. Membrane raft localization in astrocytes and neuronal cells requires
    palmitoylation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11477070
    GO:0005737cytoplasm IDA12446870
    GO:0005739mitochondrion IMP--
    GO:0005829cytosol IMP--
    GO:0005886plasma membrane IEA--

    PARK7 for ontologies           About GeneDecksing


    Pathways & Interactions
    for PARK7 gene

    (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).
    About This Section

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    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 disease0.57
    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
    5PI3K / Akt Signaling
    		PI3K / Akt Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PARK7: 
              Parkinson's Disease in human mouse rat
              Oxidative Stress in human mouse rat
              Autophagy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PARK7

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

    Selected Interacting proteins for PARK7 (Q994971, 2, 3 ENSP000003402784) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    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
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001963synaptic transmission, dopaminergic ----
    GO:0006508proteolysis ----
    GO:0006914autophagy IEA--
    GO:0006954inflammatory response IEA--
    GO:0007005mitochondrion organization ISS--

    PARK7 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PARK7 gene

    (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)
    About This Section

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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 PARK7

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

    Selected 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)



    PARK7 for compounds           About GeneDecksing



    Transcripts
    for PARK7 gene

    (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,
    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 )
    About This Section

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    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

    miRNA
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    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): PARK7 (NM_007262)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PARK7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PARK7
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PARK7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PARK7
      QuantiTect SYBR Green Assays in human, mouse, rat PARK7
      QuantiFast Probe-based Assays in human, mouse, rat PARK7

    Additional mRNA sequence: 

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

    Selected 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 

    Selected AceView cDNA sequences (see all 818):

    AA251345 AI202676 BM760109 BM750124 BM756505 C05103 AL556933 CB996016 
    CR623919 AJ709120 BM741700 CR591123 CD050392 AI761742 BM759196 CD672896 
    BM704825 BM824731 BQ028408 BM760888 BM760169 AA602784 BU657605 AA039588 

    GeneLoc Exon Structure

    Selected 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

    Expression
    for PARK7 gene

    (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)
    About This Section

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    PARK7 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    PARK7 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    PARK7 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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
    for PARK7 gene

    (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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PARK7 gene from Selected 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
    		 parkinson protein 7
    		 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 DJ-1alpha 54.68(n)
    56.74(a)    		   36543  NM_137072.1  NP_610916.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea djr-1.11 djr-1.1 57.3(n)
    54.05(a)    		   173416  NM_061295.6  NP_493696.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G532801 AT1G53280 50(n)
    44.32(a)    		   841762  NM_104206.3  NP_564626.1 
    rice
    (Oryza sativa)    		 Liliopsida Os06g05312001 Os06g0531200 48.4(n)
    41.81(a)    		   4341205  NM_001064318.1  NP_001057783.2 


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

    Paralogs
    for PARK7 gene

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

    PARK7 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PARK7
    PGOHUM00000239770 PGOHUM00000236716


    Genomic Variants
    for PARK7 gene

    (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)
    About This Section

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    Selected SNPs for PARK7 (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
    ----------
    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--------
    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--------
    rs743153511,2
    		Cpathogenic18040457(+) GTCATA/GAGGCG 4 I M mis10--------
    rs743153531,2
    		Cpathogenic18043019(+) AAAGAC/GGTTTG 4 D E mis10--------
    rs355406561,2
    		C--8029645(+) CAAAC-/TTTTTTT 2 -- int10--------
    rs1859284181,2
    		--8037254(+) CCACTA/GTGGAA 2 -- us2k10--------
    rs1906380831,2
    		--8037549(+) CTCGAA/GAGACT 2 -- us2k10--------

    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 Site Specific Mutation Identification with PCR Assay for PARK7:
    Cosmic IdAA Change
    98000118
    SeqTarget long-range PCR primers for resequencing PARK7
    DNA2.0 Custom Variant and Variant Library Synthesis for PARK7

    Disorders / Diseases
    for PARK7 gene

    (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

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    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

    • Selected diseases for PARK7 (see all 74):    
    About MalaCards
    park7-related parkinson disease    parkinson disease 7, autosomal recessive early-onset    amyotrophic lateral sclerosis-parkinsonism/dementia complex 1    amyotrophic lateral sclerosis-parkinsonism/dementia complex
    parkinson disease 10    spinocerebellar ataxia type 17    tauopathy    parkinson disease 1
    parkinson's disease    inclusion body myositis    laryngeal carcinoma    corneal dystrophy
    laryngitis    multiple system atrophy    myositis    clear cell renal cell carcinoma
    brachydactyly    ependymoma    hepatitis b virus infection    pick's disease

    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

    Selected 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

    Publications
    for PARK7 gene

    (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

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    PubMed articles for PARK7 gene, integrated from 10 sources (see all 417):
    (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. (Neurology 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. (Biochem. Biophys. Res. Commun. 1997)
    3. Mitochondrial localization of DJ-1 leads to enhanced neuroprotection. (PubMed id 18711745)1, 2, 9 Junn E.... Mouradian M.M. (J. Neurosci. Res. 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. (Brain 2004)
    5. DJ-1 interacts with HIPK1 and affects H2O2-induced cell death. (PubMed id 16390825)1, 2, 9 Sekito A....Ariga H. (Free Radic. Res. 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. (Proc. Natl. Acad. Sci. U.S.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. (J. Neurochem. 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. (FEBS Lett. 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. (Gene 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. (Neurosci. Lett. 2009)

    External Searches for PARK7 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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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)

    Genome Databases showing PARK7 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 11315 HGNC: 16369 AceView: PARK7 Ensembl:ENSG00000116288 euGenes: HUgn11315
    ECgene: PARK7 Kegg: 11315 H-InvDB: PARK7

    Other Databases showing PARK7 gene

    (According to HUGE)
    About This Section

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    Specialized Databases showing PARK7 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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/books/NBK1116/?term=PARK7[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=P&genename=PARK7+%40+DJ-1

    Intellectual Property
    for PARK7 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    TryGeneCards Plus    		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



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