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

PARK7 Gene

protein-coding   GIFtS: 67
GCID: GC01P007944

parkinson protein 7

(Previous names: Parkinson disease (autosomal recessive, early onset) 7...)
 Explore 65 diseases affiliated with
PARK7 via our new
 Human Malady Compendium 
Biological research products
for PARK7
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Parkinson Protein 71 2     Oncogene DJ12 3
DJ11 2 5     Protein DJ-12
DJ-11 2     EC 3.4.-.-3
Parkinson Disease (Autosomal Recessive, Early Onset) 71 2     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 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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_021937.19  
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 GC01P007944:  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99497

  • PARK7 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000465404   ENSP00000340278   ENSP00000418770   ENSP00000466242   ENSP00000366711  
     ENSP00000366708   ENSP00000466756  

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    ProSpec Recombinant Protein for PARK7
    Uscn Proteins for PARK7

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12446870
    GO:0005737cytoplasm IDA12446870
    GO:0005739mitochondrion IDA18711745
    GO:0005829cytosol ----
    GO:0030424axon ----


    PARK7 for ontologies           About GeneDecksing



    PARK7 Antibody Products: 
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    Uscn ELISAs and CLIAs for PARK7


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

    PARK7 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR006287 DJ1
     IPR002818 ThiJ/PfpI

    Graphical View of Domain Structure for InterPro Entry Q99497

    ProtoNet protein and cluster: Q99497

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

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    Biophysicochemical properties: Kinetic parameters: KM=173.4 uM for casein;
    Induction: By hydrogen peroxide and UV irradiation

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

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    Inhib. RNA
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    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 IPI--
    GO:0008233peptidase activity IDA--
    GO:0042803protein homodimerization activity IDA18711745


    PARK7 for ontologies           About GeneDecksing


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

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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Neuroscience
    Neuroscience1.00
    2PI3K / Akt Signaling
    PI3K / Akt Signaling1.00
    3Parkinsons Disease Pathway
    Parkinsons Disease Pathway1.00
    4Synaptic Vesicle Pathway
    Synaptic Vesicle Pathway1.00
    5Alpha-synuclein signaling
    Alpha-synuclein signaling1.00

    Pathway sources
    See GeneCards unified pathways
    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
    Synaptic Vesicle Pathway
    Androgen receptor signaling pathway
    Alpha-synuclein 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)

    5/69 Interacting proteins for PARK7 (Q994971, 2, 3 ENSP000003402784) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    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
    About this table

    Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28):    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, 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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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

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    Additional cDNA 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 

    818 AceView cDNA sequences (see top 24):

    BM760096 BM760893 BU167723 D61380 BQ436114 AI174859 BM792160 AV704886 
    CD047909 BE550383 BM712090 AK091679 BG113506 BQ643180 BI085219 AX747125 
    BU533141 T34178 AA315511 BM771936 BI830621 BU159556 BM908816 AI042422 
    CB146358 AA773602 AI340291 BX324483 AA312271 H95132 BM771807 BM739440 
    BM739800 BU507463 BM663446 BM771427 BQ448057 BQ028408 BF038857 BM970518 
    BU657605 AA338326 BQ420525 CR618546 BM700123 BM759942 CD673038 AA535605 
    BM835995 BM670136 BM759196 AA315948 BM760127 BM760169 F20533 BM824731 
    CD672896 BM756396 Z41594 BQ052914 AA602784 BM972739 BM784009 AI761742 
    AI870594 BM704825 BM760888 BM771887 BU730460 BF002713 BU595800 BM771392 
    CF128271 BM740026 AA576779 CB106548 CB108284 BM760078 BM466509 BU682926 
    BI713009 BM832829 BU731851 BM565556 AA857890 BQ431243 AW327656 BM507294 
    BQ689827 AA621820 BI856917 BP870566 BM985360 BQ716403 BM464399 BM825330 
    BG754603 AA039589 W67123 AA251345 AI202676 BM750124 BM760109 AJ709120 
    C05103 AL556933 BM741700 BM756505 CR623919 CB996016 CR591123 CD050392 
    BM910109 AA670002 AA039588 BM852110 BQ437995 F31941 BM454284 BM707721 
    F26009 BF037742 BM914964 BM709072 BU733245 BM853389 T30497 BM757918 
    AA908891 BE515210 BU521162 BF094931 AL558174 BI826586 CR616157 AA664387 
    BM014914 BQ953110 CR623768 AA745919 BM738949 BQ030064 BI712058 AI291271 
    AA360496 AA782060 BM685534 BM504242 AI340293 AI340289 BU194430 BE794210 
    BE257972 BU687752 BG616612 BM739418 BQ887259 BQ421876 CB991918 BU193062 
    BE622126 BU630080 BI858850 BE386433 BU148556 BF984854 BI549623 CB044395 
    CF126312 CA848524 BM770994 BU660390 BG194659 CF597299 AA670451 AI673204 
    BE729243 AA430079 BG616245 BI492331 BE740170 CB111342 CB139182 BQ430301 
    CF130154 BG705972 D61243 BP345841 BE734171 BM764367 AI564730 R78197 
    AB073864 AA082613 AW248378 BQ928255 CB108094 CB997655 BG617951 AI741250 
    BQ212397 CB110305 BQ212897 CB113686 BU752245 BM759779 BG401600 NM_007262 
    T61971 AW327341 BG505648 BE542498 BM739007 BF340167 CD367391 BM752044 
    BG473010 D80701 BU527611 BP373347 BG564822 BU932550 BU660931 AI051570 
    T30771 F22363 BG216416 BM997585 BM750026 BE714792 BG574615 BM677199 
    BU603303 BE786592 CB994570 BG778103 BM785713 BM264575 BG756205 BE612711 
    BM020637 BI552690 BI858857 BU933538 AI023091 AI299226 BI669109 BM271944 
    BV174154 BU186540 BM833037 BU596224 CD247911 BX324480 BI860650 CB107062 
    CB114202 BM781506 BG542982 BM974673 AA359577 F03427 CD369322 BM473249 
    BG773967 BF979943 AA569602 AV701044 CB994113 BI862167 BM691038 BI259158 
    AA770265 BM554785 AI660534 BU945447 BM806720 BI599015 BG190934 BM747812 
    BE884370 BP342698 CB147694 BU189074 BM841559 BF036842 CF128522 BM475943 
    AV734385 BG183715 BM834633 AF021819 BM739429 BP870464 BM547712 BQ640074 
    BF663649 BM771443 BF244130 BM313333 BU688129 BU178542 T35586 T35472 
    CA309297 BF794080 W42604 CA867705 BF680243 BE873735 AA101116 AI750074 
    BE729401 BG027551 CB990976 CB986032 BG771654 BE044936 BG397729 BM770984 
    BE747390 BM758413 BM738685 AJ572206 AI608749 BI752414 AA334247 BG036516 
    BF663568 BG113413 BM825036 BG547400 BU508809 BM754747 BU941957 BU655916 
    CB135857 BM469775 BM761128 CB305962 AA360248 BE904866 BG563173 CD384909 
    BE882274 BF670759 BM838051 BI468196 BM549447 BX444623 BU942782 AK130886 
    CD104643 CD050202 BG616740 AA649975 F32879 BG423342 BQ230427 BG501575 
    N78638 BF033416 AI342421 BG770239 CA868472 BF979558 AI936972 BG750611 
    AJ346332 BX324482 F36909 CF130579 AV745458 BP369862 AI302083 BG341878 
    BM751890 CB108324 AA339292 AA188297 BU657225 BM841748 BQ337743 BU589696 
    CA411878 BU660583 BM832175 BX324481 CB108934 AL523595 BM504459 BM696948 
    BQ436065 BU659430 BG530596 BM476270 BE256566 BM450448 CD520814 BG503232 
    BM745717 AW406425 BF758569 AV714584 BE514925 BU600022 BC008188 BG715880 
    AL556806 BM797575 AI479785 BM754733 BG027271 BE409907 BU596513 BM978273 
    BG610692 CB997439 BM453371 BM760787 BX400386 AI205219 AA927139 AA969401 
    BU660943 BE408488 CB112661 BG121158 BF979202 CR619796 BU603047 AA969322 
    BI092098 BM759978 C05602 BF968416 BM043362 BM721574 CA413329 BE280484 
    BG527698 AA305373 BU660800 BU656177 BM740234 C03009 BQ648712 CF128206 
    BM973909 BF792275 BM313054 W16665 AI089754 BI770788 AI147833 BG336215 
    BU849447 Z45982 BG618364 BG424977 BM767095 W68839 BI457686 BG757388 
    BE253104 BM840613 BG207529 BU933082 AL597220 AA569496 AA716183 BI549393 
    AA129779 BU664329 BI085865 BE896092 CA453781 BM991452 AV736486 AA148486 
    T30413 CB994921 BF959953 D80951 AI349300 AV685152 AA055454 BM990268 
    BG567095 BF003013 BQ694844 BI457646 D79762 BG500728 BU683903 CD623973 
    AA574416 BI257537 BF304756 T30680 BP428853 BG480113 BM840620 F07139 
    D53132 BG182169 AA055453 CD707231 AI190063 BG393962 BM748951 AW651676 
    AA219044 BU165447 BG716033 BG496051 BF244004 BQ953086 C03334 BU656249 
    BG219128 AI498521 AI243399 BF681354 BU659448 BG109435 BF978875 N81066 
    BF678748 BQ953241 BF184620 CB958261 AA310134 AI767860 CA437228 BI194256 
    BG564854 W69749 CB130655 AA502953 T35410 AI830287 BP430704 BG622377 
    BF697565 AW955128 CB995456 BG108953 BG941195 N56354 BE958231 BG401990 
    W46765 BF681557 AW021299 D61761 AA587727 BM747356 CD703086 BG505547 
    AV711323 BQ376649 CD698540 BM476996 BU657451 BU658230 D80458 CA777472 
    BE562354 AI247773 D61064 CD110216 CF527958 BG200274 AA329174 BI602006 
    BE567765 BG202862 N77240 AV745502 BG179920 CB321705 BM743588 BE782528 
    AI052100 BF305543 BF796819 AL597221 CD703195 BM691397 AW673137 H41623 
    BM833215 AI031586 AV759648 CD707706 CB956553 BU661538 AV763748 AV716113 
    BF382373 AV745904 AV701247 BU074761 AW607029 AV701087 AI034421 AI034314 
    CD298828 BI468195 BG029568 CD692502 CB107597 AV753003 CD689853 BM797379 
    D79337 AV744394 BF700328 BG498240 D52382 F32888 BQ934466 BG256228 
    AA228859 F30887 CD691001 BE928219 CD706643 AL558173 CK001102 CD701374 
    AI983345 AV695518 AV745893 BF126090 AW806383 AI034225 BG230501 BX351075 
    AA733210 BF476745 CD641373 AW380211 BG484602 AW380197 AA216242 AA228370 
    BF216838 BE928232 BG200275 BU074477 BF242793 BP349001 F27456 W42607 
    T61908 BM465181 AV745522 BF094973 CD696942 AV746418 AV691510 CB991322 
    T29930 BM739882 AJ346410 AV722182 D53083 BE827551 BE622939 BF675687 
    AU099598 BF907444 BF341610 AJ574003 AA481957 BE961136 AW206383 CA777735 
    BG757311 BF798908 R51981 H42326 D53402 BM045884 AA376344 AA251440 
    CD520724 C04479 BE440017 CD623974 D81267 BQ347810 BE833667 AW793435 
    BG422859 T35662 AV745614 D61300 BF571111 BE047815 BG213865 BX106037 
    W31890 BF170373 AV736392 BU566510 W07496 T35587 BU595868 BU589551 
    BI860373 BE177604 AV757884 D81438 BF907442 CD106479 C17909 AV753888 
    BE870483 H24532 BF758566 CA842038 BM503757 BM476682 CD110428 AA219196 
    D81357 BU953513 BU944919 BU600587 AV701341 BM987677 BG471144 AA308838 
    BG112406 AI189013 BG202303 BG210698 BM787501 CD702892 BE568546 AW904199 
    AI149327 BF837367 AV753975 BQ377065 BG219621 BF086088 BQ230393 BM509906 
    BM907005 BE258993 BF336957 H38029 AW806434 AW800369 CD522098 AL582600 
    BF094970 BQ435677 BF675780 AV722608 AV700974 AA186809 D58737 AA019415 
    AW170613 BF841538 CD521754 CB961441 AV692049 AA947522 W69856 BF965368 
    BF907427 D60929 BF693327 AI707820 BU179010 BF306402 BF907424 AV707572 
    CD247024 BM754224 BI827423 D81330 AW806398 BF175519 BF907437 H42923 
    BQ317990 BX394683 BE970959 BF745980 BF094947 AW810585 BQ428860 BE767842 
    BF907431 AW967133 BE826121 CD251159 BQ307988 BG026601 AI206790 AA092956 
    BE899270 BF751458 R11782 BU596849 BQ312553 AW674240 BU168051 BF335901 
    BG185293 CA841746 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATAGGTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    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

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PARK7
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PARK7
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PARK7
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PARK7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PARK7

    (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 last universal common ancestor (LUCA).

    Orthologs for PARK7 gene from 10/30 species (see all 30)    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
    --
    86(a)
    1 ↔ 1
    GL344178.1(17994-24625)
    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 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G149906
    AT1G532806
    (see all 3)
    class I glutamine amidotransferase domain-containi...
    4-methyl-5(b-hydroxyethyl)-thiazole monophosphate ...
    (see all 3)
    17(a)
    16(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    3(5047400-5049877)
    1(19864770-19867389)
    rice
    (Oryza sativa)
    Liliopsida Os01g02178001 hypothetical protein 47.99(n)
    39.56(a)
      4324581  NM_001048942.1  NP_001042407.2 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria yajL6
    Oxidative-stress-resistance chaperone
    39(a)
    1 ↔ 1
    Chromosome(442275-442865)


    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, UniProtKB, 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

    10/470 NCBI SNPs in PARK7 are shown (see all 470    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs743153511,2
    Cpathogenic8022923(+) GTCATA/GAGGCG 4 I M mis10--------
    rs743153521,2
    C,F,pathogenic8044990(+) AAAAGA/CCGGCC 4 D A mis11Minor allele frequency- C:0.00NA 4552
    rs1859284181,2
    --8019720(+) CCACTA/GTGGAA 2 -- us2k10--------
    rs1906380831,2
    --8020015(+) CTCGAA/GAGACT 2 -- us2k10--------
    rs115772391,2
    C,F,H--8020162(+) AGATAT/CTTGCA 2 -- us2k11Minor allele frequency- C:0.33NA 6
    rs1497936191,2
    --8020510(+) TTGGTA/TGAAGT 2 -- us2k10--------
    rs1475170511,2
    --8020526(+) GCAAGG/TTGTCA 2 -- us2k10--------
    rs1813171161,2
    --8020636(+) CAGAAA/GAGTGC 2 -- us2k10--------
    rs1865107631,2
    --8020707(+) TCTCAC/TTTTTT 2 -- us2k10--------
    rs1400791281,2
    --8020833(+) AATAGA/GGATAT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for PARK7 (8014351 - 8045565 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PARK7: --
    Human Gene Mutation Database (HGMD): PARK7

    Locus Specific Mutation Databases (LSDB): PARK7

    1 SABiosciences Cancer Mutation PCR Assay for PARK7:
    Cosmic IdAA Change
    98000118
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PARK7
    DNA2.0 Custom Variant and Variant Library Synthesis for PARK7

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

    PARK7 for disorders           About GeneDecksing

    OMIM gene information: 602533   
    OMIM disorders: 606324  
    UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497
  • Defects in PARK7 are the cause of Parkinson disease type 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)

    20/65 diseases for PARK7 (see all 65):    About MalaCards
    parkinson's disease    parkinson disease 7, autosomal recessive early-onset    amyotrophic lateral sclerosis-parkinsonism/dementia complex 2    spinocerebellar ataxia type 17
    inclusion body myositis    supranuclear palsy    amyotrophic lateral sclerosis    clear cell renal cell carcinoma
    spinocerebellar ataxia    lateral sclerosis    parkinson disease 10    squamous cell carcinoma
    chronic obstructive pulmonary disease    laryngeal squamous cell carcinoma    short stature    multiple system atrophy
    tauopathy    esophageal squamous cell carcinoma    renal cell carcinoma    pancreatic ductal adenocarcinoma

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

    10/20 Novoseek 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
    Parkinson Disease

    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 388):
    (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. The role of pathogenic DJ-1 mutations in Parkinson's disease. (PubMed id 12953260)1, 2, 9 Abou-Sleiman P.M.... Wood N.W. (2003)

    (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:
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    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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     PARK7 Proteins, Antibodies, CLIAs, and ELISAs
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