PARK7
Parkinson disease protein 7
Also known as: DJ-1, DJ1, GATD2, PARK7_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q99497
- Gene
- PARK7
- Ensembl
- ENSG00000116288
- Chromosome
- 1
- Canonical length
- 189 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol,Flagellar centriole,Mid piece
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
189 residues, UniProt reviewed canonical sequence.
>Q99497|PARK7
1 MASKRALVIL AKGAEEMETV IPVDVMRRAG IKVTVAGLAG KDPVQCSRDV VICPDASLED
61 AKKEGPYDVV VLPGGNLGAQ NLSESAAVKE ILKEQENRKG LIAAICAGPT ALLAHEIGFG
121 SKVTTHPLAK DKMMNGGHYT YSENRVEKDG LILTSRGPGT SFEFALAIVE ALNGKEVAAQ
181 VKAPLVLKDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PARK7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 723 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 723 nTPM
- choroid plexus: 609 nTPM
- tongue: 506 nTPM
- amygdala: 420 nTPM
- cerebral cortex: 410 nTPM
- basal ganglia: 402 nTPM
Single-cell type
- platelets: 982 nCPM
- decidual stromal cells: 770 nCPM
- esophageal basal cells: 737 nCPM
- extravillous trophoblasts: 704 nCPM
- migrating cytotrophoblasts: 672 nCPM
- megakaryocytes: 668 nCPM
Immune cell
- plasmacytoid DC: 1,382 nTPM
- total PBMC: 1,062 nTPM
- T-reg: 877 nTPM
- myeloid DC: 718 nTPM
- classical monocyte: 592 nTPM
- memory CD8 T-cell: 578 nTPM
Brain region
- choroid plexus: 245 nTPM
- white matter: 185 nTPM
- hypothalamus: 181 nTPM
- spinal cord: 175 nTPM
- cerebral cortex: 171 nTPM
- medulla oblongata: 171 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PARK7.
Disease | AllUniProt
Conditions PARK7 is implicated in, by any mechanism.
- Parkinson disease 7 (PARK7) MIM:606324
Disease | GeneticClinVar
17 pathogenic / likely-pathogenic of 163 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal recessive early-onset Parkinson disease 7
- Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
- Amyotrophic lateral sclerosis-parkinsonism-dementia complex
- Young-onset Parkinson disease
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.53
- gnomAD pLI
- 0.75
- gnomAD missense Z
- 0.16
- DepMap mean gene effect
- -0.15
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adult locomotory behavior
- androgen receptor signaling pathway
- autophagy
- cellular detoxification of aldehyde
- cellular response to hydrogen peroxide
- cellular response to oxidative stress
- detection of oxidative stress
- detoxification of copper ion
- DNA repair
- dopamine uptake involved in synaptic transmission
- glucose homeostasis
- hydrogen peroxide metabolic process
- inflammatory response
- insulin secretion
- lactate biosynthetic process
- membrane depolarization
- membrane hyperpolarization
- methylglyoxal metabolic process
- mitochondrion organization
- negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
- negative regulation of extrinsic apoptotic signaling pathway
- negative regulation of gene expression
- negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway
- negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide
- negative regulation of neuron apoptotic process
- negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway
- negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
- negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway
- negative regulation of proteasomal ubiquitin-dependent protein catabolic process
- negative regulation of protein export from nucleus
- negative regulation of protein K48-linked deubiquitination
- negative regulation of protein sumoylation
- negative regulation of protein ubiquitination
- negative regulation of reactive oxygen species biosynthetic process
- positive regulation of autophagy of mitochondrion
- positive regulation of dopamine biosynthetic process
- positive regulation of gene expression
- positive regulation of interleukin-8 production
- positive regulation of mitochondrial electron transport, NADH to ubiquinone
- positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
- positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- positive regulation of protein localization to nucleus
- positive regulation of protein-containing complex assembly
- positive regulation of reactive oxygen species biosynthetic process
- positive regulation of reactive oxygen species metabolic process
- positive regulation of transcription by RNA polymerase II
- protein repair
- protein stabilization
- proteolysis
- Ras protein signal transduction
- regulation of androgen receptor signaling pathway
- regulation of inflammatory response
- regulation of mitochondrial membrane potential
- regulation of neuron apoptotic process
- regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway
- regulation of synaptic vesicle endocytosis
- removal of superoxide radicals
- response to oxidative stress
- single fertilization
- cellular detoxification of methylglyoxal
- cellular response to glyoxal
- detoxification of hydrogen peroxide
- detoxification of mercury ion
- glycolate biosynthetic process
- glyoxal metabolic process
- guanine deglycation
- guanine deglycation, glyoxal removal
- guanine deglycation, methylglyoxal removal
- methylglyoxal catabolic process to lactate
- negative regulation of death-inducing signaling complex assembly
- negative regulation of TRAIL-activated apoptotic signaling pathway
- positive regulation of acute inflammatory response to antigenic stimulus
- positive regulation of L-dopa biosynthetic process
- regulation of supramolecular fiber organization
Molecular functions
- cadherin binding
- copper ion binding
- cupric ion binding
- cuprous ion binding
- cytokine binding
- DNA-binding transcription factor binding
- enzyme activator activity
- enzyme binding
- identical protein binding
- kinase binding
- mercury ion binding
- mRNA binding
- nuclear androgen receptor binding
- oxidoreductase activity, acting on peroxide as acceptor
- oxygen sensor activity
- peptidase activity
- peptidase inhibitor activity
- peroxiredoxin activity
- protein homodimerization activity
- scaffold protein binding
- signaling receptor activator activity
- signaling receptor binding
- small protein activating enzyme binding
- superoxide dismutase copper chaperone activity
- transcription coactivator activity
- ubiquitin-like protein conjugating enzyme binding
- ubiquitin-protein transferase inhibitor activity
- ubiquitin-specific protease binding
- glyoxalase (glycolic acid-forming) activity
- L-dopa decarboxylase activator activity
- protein deglycase activity
- tyrosine 3-monooxygenase activator activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Class I glutamine amidotransferase-like
- Protein/nucleic acid deglycase
- DJ-1/PfpI
- Protein/nucleic acid deglycase DJ-1
- DJ-1/PfpI family
KeywordsUniProt
- Acetylation
- Autophagy
- Cell membrane
- Chaperone
- Copper
- Cytoplasm
- DNA damage
- DNA repair
- Endoplasmic reticulum
- Fertilization
- Hydrolase
- Inflammatory response
- Isopeptide bond
- Lipoprotein
- Membrane
- Mitochondrion
- Neurodegeneration
- Nucleus
- Oxidation
- Palmitate
- Parkinson disease
- Parkinsonism
- Phosphoprotein
- Protease
- RNA-binding
- Stress response
- Tumor suppressor
- Ubl conjugation
- Zymogen
InteractionsUniProt · HPA
Protein binding partners of PARK7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PARK7 as an antibody target. Whether an autoantibody or antibody against PARK7 could matter depends on whether native PARK7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PARK7 is annotated at the cell surface, where native PARK7 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label PARK7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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