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PARK7 parkinson protein 7 [ Homo sapiens (human) ]

Gene ID: 11315, updated on 19-Jul-2014
Official Symbol
PARK7provided by HGNC
Official Full Name
parkinson protein 7provided by HGNC
Primary source
HGNC:16369
Locus tag
CTA-215D11.1
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]
See PARK7 in Epigenomics, MapViewer
Location:
1p36.23
Exon count :
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 tumor necrosis factor 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

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 Protein 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
androgen receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
cupric ion binding IDA
Inferred from Direct Assay
more info
 
cuprous ion binding IDA
Inferred from Direct Assay
more info
 
cytokine binding IPI
Inferred from Physical Interaction
more info
 
NOT double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 
enzyme binding IPI
Inferred from Physical Interaction
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
mRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
oxidoreductase activity, acting on peroxide as acceptor IDA
Inferred from Direct Assay
more info
 
peptidase activity IDA
Inferred from Direct Assay
more info
 
peroxidase activity IEA
Inferred from Electronic Annotation
more info
 
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
 
scaffold protein binding IPI
Inferred from Physical Interaction
more info
 
NOT single-stranded DNA binding IDA
Inferred from Direct Assay
more info
 
small protein activating enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
small protein conjugating enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
superoxide dismutase copper chaperone activity IDA
Inferred from Direct Assay
more info
 
transcription factor binding IPI
Inferred from Physical Interaction
more info
 
ubiquitin-specific protease binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
autophagy IEA
Inferred from Electronic Annotation
more info
 
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 
dopamine uptake involved in synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
hydrogen peroxide metabolic process IDA
Inferred from Direct Assay
more info
 
inflammatory response 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
 
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
 
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
 
negative regulation of death-inducing signaling complex assembly IC
Inferred by Curator
more info
 
negative regulation of extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of gene expression IDA
Inferred from Direct Assay
more info
 
negative regulation of hydrogen peroxide-mediated programmed cell death IDA
Inferred from Direct Assay
more info
 
negative regulation of neuron apoptotic process IDA
Inferred from Direct Assay
more info
 
negative regulation of neuron death IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein K48-linked deubiquitination IDA
Inferred from Direct Assay
more info
 
negative regulation of protein acetylation IDA
Inferred from Direct Assay
more info
 
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
 
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 ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of androgen receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-8 production IDA
Inferred from Direct Assay
more info
 
positive regulation of oxidative phosphorylation uncoupler activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein homodimerization activity IDA
Inferred from Direct Assay
more info
 
positive regulation of protein localization to nucleus IDA
Inferred from Direct Assay
more info
 
positive regulation of superoxide dismutase activity IDA
Inferred from Direct Assay
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
 
protein stabilization IDA
Inferred from Direct Assay
more info
 
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
 
regulation of androgen receptor signaling pathway IDA
Inferred from Direct Assay
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
 
regulation of neuron apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
single fertilization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
PML body IDA
Inferred from Direct Assay
more info
 
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
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IMP
Inferred from Mutant Phenotype
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein DJ-1
Names
protein DJ-1
oncogene DJ1
epididymis secretory sperm binding protein Li 67p
Parkinson disease (autosomal recessive, early onset) 7

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 

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

mRNA and Protein(s)

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

    See proteins identical to 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
    Conserved Domains (2) summary
    cd03135
    Location:6172
    Blast Score: 529
    GATase1_DJ-1; Type 1 glutamine amidotransferase (GATase1)-like domain found in Human DJ-1
    TIGR01383
    Location:5184
    Blast Score: 611
    not_thiJ; DJ-1 family protein
  2. NM_007262.4NP_009193.2  protein DJ-1

    See proteins identical to 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
    Blast Score: 529
    GATase1_DJ-1; Type 1 glutamine amidotransferase (GATase1)-like domain found in Human DJ-1
    TIGR01383
    Location:5184
    Blast Score: 611
    not_thiJ; DJ-1 family protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

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

mRNA and Protein(s)

  1. XM_005263424.1XP_005263481.1  

    See proteins identical to XP_005263481.1

    UniProtKB/Swiss-Prot
    Q99497
    UniProtKB/TrEMBL
    V9HWC2
    Related
    ENSP00000366711, OTTHUMP00000001350, ENST00000377491, OTTHUMT00000003581
    Conserved Domains (2) summary
    cd03135
    Location:6172
    Blast Score: 529
    GATase1_DJ-1; Type 1 glutamine amidotransferase (GATase1)-like domain found in Human DJ-1
    TIGR01383
    Location:5184
    Blast Score: 611
    not_thiJ; DJ-1 family protein

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    7169316..7193163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

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

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