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    PARK7 Parkinsonism associated deglycase [ Homo sapiens (human) ]

    Gene ID: 11315, updated on 4-Jan-2025

    Summary

    Official Symbol
    PARK7provided by HGNC
    Official Full Name
    Parkinsonism associated deglycaseprovided by HGNC
    Primary source
    HGNC:HGNC:16369
    See related
    Ensembl:ENSG00000116288 MIM:602533; AllianceGenome:HGNC:16369
    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; GATD2; 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]
    Expression
    Ubiquitous expression in adrenal (RPKM 125.5), thyroid (RPKM 111.2) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PARK7 in Genome Data Viewer
    Location:
    1p36.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (7961711..7985505)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (7492675..7516444)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (8021771..8045565)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr1:7912645-7913333 Neighboring gene urotensin 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:7929285-7930484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:7935645-7936144 Neighboring gene NANOG hESC enhancer GRCh37_chr1:7970949-7971450 Neighboring gene TNF receptor superfamily member 9 Neighboring gene tRNA-undetermined (NNN) 4-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 92 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 93 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:8020839-8021622 and GRCh37_chr1:8021623-8022406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 98 Neighboring gene NANOG hESC enhancer GRCh37_chr1:8051898-8052428 Neighboring gene uncharacterized LOC124903834 Neighboring gene Sharpr-MPRA regulatory region 3725 Neighboring gene Sharpr-MPRA regulatory region 3772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 190 Neighboring gene ERBB receptor feedback inhibitor 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ27376, FLJ34360, FLJ92274

    Gene Ontology Provided by GOA

    Items 1 - 25 of 41
    Function Evidence Code Pubs
    enables DNA-binding transcription factor binding PubMed 
    enables L-dopa decarboxylase activator activity PubMed 
    enables cadherin binding PubMed 
    enables copper ion binding PubMed 
    NOT enables core promoter sequence-specific DNA binding PubMed 
    enables cupric ion binding PubMed 
    enables cuprous ion binding PubMed 
    enables cytokine binding PubMed 
    NOT enables double-stranded DNA binding PubMed 
    enables enzyme activator activity PubMed 
    enables enzyme binding PubMed 
    enables glyoxalase (glycolic acid-forming) activity PubMed 
    enables identical protein binding PubMed 
    enables kinase binding PubMed 
    enables mRNA binding PubMed 
    enables mercury ion binding PubMed 
    enables nuclear androgen receptor binding PubMed 
    enables oxidoreductase activity, acting on peroxide as acceptor  
    enables oxidoreductase activity, acting on peroxide as acceptor PubMed 
    enables oxygen sensor activity  
    enables peptidase activity PubMed 
    enables peptidase inhibitor activity PubMed 
    enables peroxiredoxin activity  
    enables protein binding PubMed 
    NOT enables protein deglycase activity PubMed 
    enables protein deglycase activity PubMed 
    enables protein deglycase activity PubMed 
    enables protein homodimerization activity PubMed 
    enables protein homodimerization activity PubMed 
    enables scaffold protein binding PubMed 
    enables signaling receptor activator activity PubMed 
    enables signaling receptor binding PubMed 
    NOT enables single-stranded DNA binding PubMed 
    enables small protein activating enzyme binding PubMed 
    enables superoxide dismutase copper chaperone activity PubMed 
    enables transcription coactivator activity PubMed 
    enables transcription coactivator activity PubMed 
    enables tyrosine 3-monooxygenase activator activity PubMed 
    enables ubiquitin-like protein conjugating enzyme binding PubMed 
    enables ubiquitin-protein transferase inhibitor activity PubMed 
    enables ubiquitin-specific protease binding PubMed 
    Items 1 - 25 of 41
    Items 1 - 25 of 94
    Process Evidence Code Pubs
    involved_in DNA repair PubMed 
    involved_in Ras protein signal transduction PubMed 
    involved_in adult locomotory behavior  
    involved_in androgen receptor signaling pathway PubMed 
    involved_in autophagy  
    involved_in cellular detoxification of aldehyde PubMed 
    involved_in cellular detoxification of methylglyoxal PubMed 
    involved_in cellular response to glyoxal PubMed 
    involved_in cellular response to hydrogen peroxide PubMed 
    involved_in cellular response to oxidative stress PubMed 
    involved_in cellular response to oxidative stress PubMed 
    involved_in detection of oxidative stress  
    involved_in detoxification of copper ion PubMed 
    involved_in detoxification of hydrogen peroxide PubMed 
    involved_in detoxification of mercury ion  
    involved_in dopamine uptake involved in synaptic transmission  
    involved_in glucose homeostasis  
    involved_in glycolate biosynthetic process  
    involved_in glycolate biosynthetic process PubMed 
    involved_in glyoxal catabolic process  
    involved_in glyoxal metabolic process  
    involved_in glyoxal metabolic process PubMed 
    involved_in guanine deglycation PubMed 
    involved_in guanine deglycation, glyoxal removal PubMed 
    involved_in guanine deglycation, methylglyoxal removal PubMed 
    involved_in hydrogen peroxide metabolic process PubMed 
    involved_in inflammatory response  
    involved_in insulin secretion  
    involved_in lactate biosynthetic process PubMed 
    involved_in membrane depolarization  
    involved_in membrane hyperpolarization  
    involved_in methylglyoxal catabolic process to lactate PubMed 
    NOT involved_in methylglyoxal metabolic process PubMed 
    involved_in methylglyoxal metabolic process PubMed 
    involved_in mitochondrion organization  
    involved_in negative regulation of TRAIL-activated apoptotic signaling pathway PubMed 
    involved_in negative regulation of death-inducing signaling complex assembly PubMed 
    involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway PubMed 
    involved_in negative regulation of gene expression PubMed 
    involved_in negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway PubMed 
    involved_in negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide PubMed 
    involved_in negative regulation of neuron apoptotic process PubMed 
    involved_in negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway PubMed 
    acts_upstream_of negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway PubMed 
    involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway PubMed 
    involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway PubMed 
    acts_upstream_of negative regulation of proteasomal ubiquitin-dependent protein catabolic process PubMed 
    involved_in negative regulation of protein K48-linked deubiquitination PubMed 
    involved_in negative regulation of protein acetylation PubMed 
    involved_in negative regulation of protein export from nucleus PubMed 
    involved_in negative regulation of protein phosphorylation PubMed 
    involved_in negative regulation of protein sumoylation PubMed 
    acts_upstream_of negative regulation of protein ubiquitination PubMed 
    involved_in negative regulation of protein ubiquitination PubMed 
    involved_in negative regulation of reactive oxygen species biosynthetic process  
    acts_upstream_of positive regulation of L-dopa biosynthetic process PubMed 
    involved_in positive regulation of acute inflammatory response to antigenic stimulus  
    involved_in positive regulation of autophagy of mitochondrion PubMed 
    acts_upstream_of positive regulation of dopamine biosynthetic process PubMed 
    involved_in positive regulation of dopamine biosynthetic process PubMed 
    involved_in positive regulation of gene expression PubMed 
    acts_upstream_of positive regulation of interleukin-8 production PubMed 
    involved_in positive regulation of mitochondrial electron transport, NADH to ubiquinone PubMed 
    involved_in positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  
    involved_in positive regulation of peptidyl-serine phosphorylation PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
    involved_in positive regulation of protein localization to nucleus PubMed 
    involved_in positive regulation of protein localization to nucleus PubMed 
    involved_in positive regulation of protein-containing complex assembly PubMed 
    involved_in positive regulation of reactive oxygen species biosynthetic process  
    involved_in positive regulation of reactive oxygen species metabolic process PubMed 
    acts_upstream_of positive regulation of transcription by RNA polymerase II PubMed 
    acts_upstream_of positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    acts_upstream_of positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in protein repair PubMed 
    involved_in protein stabilization PubMed 
    acts_upstream_of protein stabilization PubMed 
    involved_in protein stabilization PubMed 
    involved_in proteolysis  
    NOT involved_in regulation of TRAIL production PubMed 
    involved_in regulation of androgen receptor signaling pathway PubMed 
    involved_in regulation of inflammatory response  
    involved_in regulation of mitochondrial membrane potential PubMed 
    involved_in regulation of neuron apoptotic process PubMed 
    involved_in regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway PubMed 
    involved_in regulation of supramolecular fiber organization PubMed 
    involved_in regulation of synaptic vesicle endocytosis  
    involved_in removal of superoxide radicals PubMed 
    involved_in response to oxidative stress  
    involved_in single fertilization  
    Items 1 - 25 of 94
    Items 1 - 20 of 27
    Component Evidence Code Pubs
    located_in PML body PubMed 
    located_in adherens junction PubMed 
    located_in axon  
    located_in cell body  
    located_in chromatin PubMed 
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytosol PubMed 
    located_in cytosol PubMed 
    located_in cytosol  
    located_in endoplasmic reticulum PubMed 
    located_in extracellular exosome PubMed 
    located_in membrane raft  
    located_in mitochondrial intermembrane space  
    located_in mitochondrial matrix  
    located_in mitochondrion PubMed 
    is_active_in mitochondrion  
    located_in mitochondrion PubMed 
    located_in mitochondrion PubMed 
    located_in nucleoplasm  
    located_in nucleoplasm  
    located_in nucleus PubMed 
    is_active_in nucleus  
    located_in nucleus PubMed 
    located_in perinuclear region of cytoplasm PubMed 
    located_in plasma membrane  
    located_in synaptic vesicle  
    Items 1 - 20 of 27

    General protein information

    Preferred Names
    Parkinson disease protein 7
    Names
    Parkinson disease (autosomal recessive, early onset) 7
    epididymis secretory sperm binding protein Li 67p
    maillard deglycase
    oncogene DJ1
    parkinson protein 7
    protein DJ-1
    protein deglycase DJ-1
    protein/nucleic acid deglycase DJ-1
    NP_001116849.1
    NP_009193.2
    XP_005263481.1
    XP_054190021.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5058..28852
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001123377.2NP_001116849.1  Parkinson disease protein 7

      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, AL034417, D61380
      Consensus CDS
      CCDS93.1
      UniProtKB/Swiss-Prot
      B2R4Z1, O14805, Q6DR95, Q7LFU2, Q99497
      UniProtKB/TrEMBL
      V9HWC2
      Related
      ENSP00000418770.1, ENST00000493678.5
      Conserved Domains (1) summary
      TIGR01383
      Location:5184
      not_thiJ; DJ-1 family protein
    2. NM_007262.5NP_009193.2  Parkinson disease protein 7

      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, AL034417, BC008188, BP248330, D61380
      Consensus CDS
      CCDS93.1
      UniProtKB/Swiss-Prot
      B2R4Z1, O14805, Q6DR95, Q7LFU2, Q99497
      UniProtKB/TrEMBL
      V9HWC2
      Related
      ENSP00000340278.5, ENST00000338639.10
      Conserved Domains (1) summary
      TIGR01383
      Location:5184
      not_thiJ; DJ-1 family protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      7961711..7985505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263424.4XP_005263481.1  Parkinson disease protein 7 isoform X1

      See identical proteins and their annotated locations for XP_005263481.1

      UniProtKB/Swiss-Prot
      B2R4Z1, O14805, Q6DR95, Q7LFU2, Q99497
      UniProtKB/TrEMBL
      V9HWC2
      Related
      ENSP00000366711.1, ENST00000377491.5
      Conserved Domains (1) summary
      TIGR01383
      Location:5184
      not_thiJ; DJ-1 family protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      7492675..7516444
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334046.1XP_054190021.1  Parkinson disease protein 7 isoform X1

      UniProtKB/Swiss-Prot
      B2R4Z1, O14805, Q6DR95, Q7LFU2, Q99497
      UniProtKB/TrEMBL
      V9HWC2
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