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    PARK7 Parkinsonism associated deglycase [ Homo sapiens (human) ]

    Gene ID: 11315, updated on 29-Jun-2016
    Official Symbol
    PARK7provided by HGNC
    Official Full Name
    Parkinsonism associated deglycaseprovided by HGNC
    Primary source
    HGNC:HGNC:16369
    See related
    Ensembl:ENSG00000116288 HPRD:03961; MIM:602533; Vega:OTTHUMG00000001210
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DJ1; DJ-1; HEL-S-67p
    Summary
    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]
    Orthologs
    Location:
    1p36.23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (7961654..7985282)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (8021714..8045342)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene urotensin 2 Neighboring gene TNF receptor superfamily member 9 Neighboring gene ERBB receptor feedback inhibitor 1 Neighboring gene ribosomal protein L7a pseudogene 18

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Parkinson disease 7
    MedGen: C1853445 OMIM: 606324 GeneReviews: Parkinson Disease Overview
    Compare labs

    NHGRI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    NHGRI GWA Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    NHGRI GWA Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the expression of parkinson protein 7 (PARK7; DJ1) in Jurkat cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Alpha-synuclein signaling, organism-specific biosystem (from Pathway Interaction Database)
      Alpha-synuclein signaling, organism-specific biosystem
      Alpha-synuclein signaling
    • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
      Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
    • Parkinson's disease, organism-specific biosystem (from KEGG)
      Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
    • Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
      Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...
    • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
      Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ27376, FLJ34360, FLJ92274

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-dopa decarboxylase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    androgen receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    copper ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT core promoter binding IC
    Inferred by Curator
    more info
    PubMed 
    cupric ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cuprous ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytokine binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    glyoxalase (glycolic acid-forming) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glyoxalase III activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    mRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mercury ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidoreductase activity, acting on peroxide as acceptor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxiredoxin activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    repressing transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    scaffold protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    small protein activating enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    superoxide dismutase copper chaperone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription coactivator activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    transcription coactivator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    tyrosine 3-monooxygenase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin-like protein conjugating enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin-specific protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Ras protein signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    activation of protein kinase B activity IC
    Inferred by Curator
    more info
    PubMed 
    adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    cellular oxidant detoxification IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to glyoxal IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to hydrogen peroxide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    detoxification of copper ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    detoxification of mercury ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dopamine uptake involved in synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme active site formation via L-cysteine sulfinic acid IEA
    Inferred from Electronic Annotation
    more info
     
    glycolate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glyoxal catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hydrogen peroxide metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    lactate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    membrane depolarization IEA
    Inferred from Electronic Annotation
    more info
     
    membrane hyperpolarization IEA
    Inferred from Electronic Annotation
    more info
     
    methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of TRAIL-activated apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of death-inducing signaling complex assembly IC
    Inferred by Curator
    more info
    PubMed 
    negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of hydrogen peroxide-induced cell death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of hydrogen peroxide-induced neuron death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of neuron apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of neuron death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of oxidative stress-induced cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of protein K48-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of protein acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of protein binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein export from nucleus IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of protein kinase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of protein phosphorylation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of protein sumoylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of ubiquitin-specific protease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of L-dopa biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of L-dopa decarboxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of androgen receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of dopamine biosynthetic process IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of dopamine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene expression TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of interleukin-8 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of mitochondrial electron transport, NADH to ubiquinone IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of mitophagy NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of oxidative phosphorylation uncoupler activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of peptidyl-serine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein kinase B signaling IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of protein localization to nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of pyrroline-5-carboxylate reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of reactive oxygen species biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of sequence-specific DNA binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of sequence-specific DNA binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of superoxide dismutase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription regulatory region DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of tyrosine 3-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein deglycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    NOT regulation of TRAIL receptor biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of androgen receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of fibril organization TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of mitochondrial membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of neuron apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    single fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell body IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial intermembrane space IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with mitochondrial respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein deglycase DJ-1
    Names
    Parkinson disease (autosomal recessive, early onset) 7
    epididymis secretory sperm binding protein Li 67p
    oncogene DJ1
    parkinson protein 7
    protein DJ-1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008271.1 RefSeqGene

      Range
      5001..28629
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001123377.1NP_001116849.1  protein deglycase DJ-1

      See identical proteins and their annotated locations for NP_001116849.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the shorter transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK312000, BP248330, D61380
      Consensus CDS
      CCDS93.1
      UniProtKB/Swiss-Prot
      Q99497
      UniProtKB/TrEMBL
      V9HWC2
      Related
      ENSP00000418770, OTTHUMP00000001348, ENST00000493678, OTTHUMT00000003577
      Conserved Domains (2) summary
      cd03135
      Location:6172
      GATase1_DJ-1; Type 1 glutamine amidotransferase (GATase1)-like domain found in Human DJ-1
      TIGR01383
      Location:5184
      not_thiJ; DJ-1 family protein
    2. NM_007262.4NP_009193.2  protein deglycase DJ-1

      See identical proteins and their annotated locations for NP_009193.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK312000, BC008188, BP248330, D61380
      Consensus CDS
      CCDS93.1
      UniProtKB/Swiss-Prot
      Q99497
      UniProtKB/TrEMBL
      V9HWC2
      Related
      ENSP00000340278, OTTHUMP00000001349, ENST00000338639, OTTHUMT00000003578
      Conserved Domains (2) summary
      cd03135
      Location:6172
      GATase1_DJ-1; Type 1 glutamine amidotransferase (GATase1)-like domain found in Human DJ-1
      TIGR01383
      Location:5184
      not_thiJ; DJ-1 family protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      7961654..7985282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263424.3XP_005263481.1  

      See identical proteins and their annotated locations for XP_005263481.1

      UniProtKB/Swiss-Prot
      Q99497
      UniProtKB/TrEMBL
      V9HWC2
      Related
      ENSP00000366711, OTTHUMP00000001350, ENST00000377491, OTTHUMT00000003581
      Conserved Domains (2) summary
      cd03135
      Location:6172
      GATase1_DJ-1; Type 1 glutamine amidotransferase (GATase1)-like domain found in Human DJ-1
      TIGR01383
      Location:5184
      not_thiJ; DJ-1 family protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      8009469..8033097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)