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FLASH GENE
Symbol PARK7 contributors: mct/npt/pgu - updated : 12-03-2010
HGNC name Parkinson disease (autosomal recessive, early onset) 7
HGNC id 16369
Corresponding disease
PARK7 Parkinson disease 7
Location 1p36.23      Physical location : 8.021.713 - 8.045.341
Synonym name
  • DJ1 protein
  • RNA binding protein regulatory subunit
  • oncogene DJ1
  • Parkinson disease protein 7
  • Synonym symbol(s) DJ1, DJ-1, FLJ27376, CAP1, FLJ92274, FLJ34360
    DNA
    TYPE functioning gene
    STRUCTURE 23.63 kb     7 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    TNFRSF25 1p36.2 tumor necrosis factor receptor superfamily, member 25 KIAA0720 1p36.23 tumor necrosis factor receptor superfamily, member 25 FLJ23323 1p36.23 hypothetical protein FLJ23323 TAS1R1 1p36.23 taste receptor, type 1, member 1 HKR3 1p36.31 GLI-Kruppel family member HKR3 KIAA0469 1p36.23 KIAA0469 gene product PHF13 1p36.23 PHD finger protein 13 MGC33488 1p36.23 hypothetical protein MGC33488 FLJ10737 1p36.23 hypothetical protein FLJ10737 CAMTA1 1p36.31-p36.23 calmodulin binding transcription activator 1 VAMP3 1pter-p36.32 vesicle-associated membrane protein 3 (cellubrevin) PER3 1p36 period homolog 3 (Drosophila) UTS2 1p36 urotensin 2 TNFRSF9 1p36 tumor necrosis factor receptor superfamily, member 9 PARK7 1p36.33-p36.12 Parkinson disease (autosomal recessive, early onset) 7 MIG-6 1p36.12-36.33 mitogen-inducible gene 6 LOC390993 1 similar to 60S ribosomal protein L7a (Surfeit locus protein 3) (PLA-X polypeptide) DNB5 1p36.2-p36.1 deleted in neuroblastoma 5 RERE 1p36.1-p36.2 arginine-glutamic acid dipeptide (RE) repeats DKFZp566H0824 1p36.22 hypothetical protein DKFZp566H0824 LOC390994 1 similar to 60S ribosomal protein L23a ENO1 1p36.2 enolase 1, (alpha) LOC148915 1p36.22 hypothetical LOC148915 CA6 1p36.2 carbonic anhydrase VI LOC390995 1 similar to Solute carrier family 2, facilitated glucose transporter, member 5 (Glucose transporter type 5, small intestine) (Fructose transporter) SLC2A5 1p36.2 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 GPR157 1p36.22 G protein-coupled receptor 157 H6PD 1p36.3 hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) SSB1 1p36.22 SPRY domain-containing SOCS box protein SSB-1
    RNA
    TRANSCRIPTS type messenger
    text two transcripts encode the same protein (PMID: 19822128)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 921 - 189 - 2009 19822128
    7 - 979 - 189 - 2009 19822128
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver    
    Endocrineparathyroid   highly
    Lymphoid/Immunetonsils   highly
    Nervousbrainforebraincerebral cortexfrontal cortex 
     brainmidbrainsubstantia nigra  
    Urinarykidney    
    Visualeyeanterior segmentcornea  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated Other
    HOMOLOGY
    interspecies homolog to rattus Cap1
    homolog to E.coli Thij
    Homologene
    FAMILY
  • peptidase C56 family
  • CATEGORY protooncogene , signaling neurotransmitter
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,interspace
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • localized both in the cytoplasm and nucleus and is translocated by stress or mitogen stimulation of cells
  • secreted from various cells and oxidation at C106 facilitated the secretion and also localized in microdomains
  • associated with complex I in mitochondria
  • basic FUNCTION
  • functioning as a positive regulator of androgen receptor
  • involved in the oxidative stress response
  • protecting against mitochondrial damage and may be protecting neurons from various stressful stimuli
  • neuroprotective transcriptional co-activator that may act in concert with NONO and SFPQ to regulate the expression of a neuroprotective genetic program
  • having a functional role in scavenging mitochondrial H2O2 because of its physiological action as an atypical peroxiredoxin-like peroxidase
  • multi-functional protein that plays roles in transcriptional regulation and anti-oxidative stress function
  • involved in cancer by promoting Ras signaling and suppressing PTEN-induced apoptosis
  • may play roles in coordinating responses to oxidative damage and suppression of cell death
  • protect cells against hypoxia-induced cell death and is required for their adaptation to severe hypoxic stress
  • degrades aggregated TTR to protect against the onset of FAP (familial amyloidotic polyneuropathy)
  • upstream activator of HIF1 function in cancer cells and its oncogenic activity stems from its ability to increase a cell resistance to hypoxic stress
  • plays roles in transcriptional regulation and anti-oxidative stress
  • integral mitochondrial protein that plays a role in maintenance of mitochondrial complex I activity
  • crucial for full activation of AKT1 upon oxidative injury, which serves as one explanation for the protective effects of PARK7
  • exerts an important role in the regulation of the AKT1 pathway in response to oxidative stress and neuronal protection
  • important for proper mitochondrial function and acts downstream of, or in parallel to, PINK1
  • is in a pathway parallel to that of PINK1/parkin and both of these pathways, and their carefully balanced activity, are critical for mitochondrial function
  • works in parallel to the PINK1/parkin pathway to maintain mitochondrial function in the presence of an oxidative environment
  • influences mitochondrial function and morphology through an oxidative stress pathway
  • function may either contribute to the regulation of autophagy or mitigate the downstream effects of ROS
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • PARK7/NFE2L2 functional axis
  • INTERACTION
    DNA
    RNA binding
    small molecule
    protein
  • interaction with parkin promoted by oxidative stress
  • interacting with NONO and SFPQ (binding partner in dopaminergic neuronal cells)
  • binds multiple RNA targets in an oxidation-dependent manner
  • interacting with TTR (substrate for PARK7)
  • directly bound to NDUFA4 and MT-ND1, nuclear and mitochondrial DNA-encoding subunits of mitochondrial complex I, respectively
  • interaction with BAG1 (BAG1 restores formation of functional PARK7 L166P dimers and PARK7 chaperone activity)
  • interacting with PARK2 and PINK1 (PARK7, PINK1, and PARK2 function in common biological processes that are critical for mitochondrial function, such that compromise of their activity leads to human disease)
  • cell & other
    REGULATION
    repressed by oxidative stress to cells
    Other sumoylation critical to repress p53 transcriptional activity
    ASSOCIATED DISORDERS
    corresponding disease(s) PARK7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in lung and prostate cancer
    constitutional     --low  
    leads to accumulation of mitochondrial H2O2 and this increase in mitochondrial H2O2 is accompanied by a compensatory increase in the scavenging protein GPX
    constitutional       loss of function
    loss of activity may lead to age-dependent mitochondrial dysfunction in tissues with high energy demands
    tumoral     --over  
    in cancerous pancreatic juice from pancreatic ductal adenocarcinoma
    Susceptibility
  • susceptibility to sporadic Parkinson disease (binding with parkin)
  • to oxidative stress
  • Variant & Polymorphism other cysteine-106 being critical in the ability to handle oxidative stress (essential role of the oxidation-sensitive cysteine-106 residue in the neuroprotective activity after stroke)
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    PARK7/NFE2L2 functional axis presents a therapeutic target in cancer treatment and justifies PARK7 as a tumor biomarker
    ANIMAL & CELL MODELS