PARK7 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PARK7 |
| Official Name | Parkinsonism associated deglycase [Source:HGNC Symbol;Acc:HGNC:16369] |
| Ensembl ID | ENSG00000116288 |
| Bio databases IDs | |
| Aliases | Parkinsonism associated deglycase |
| Synonyms | CAP1, DJ-1, GATD2, HEL-S-67p, Parkinson disease (autosomal recessive, early onset) 7, Parkinsonism associated deglycase, SP22 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PARK7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription co-activator
- cytokine binding
- receptor activator
- peptidase
- hydro-lyase
- enzyme inhibitor activity
- androgen receptor binding
- transcription factor binding
- enzyme
- enzyme activator activity
- identical protein binding
- superoxide dismutase copper chaperone
- copper ion binding
- peroxidase
- protease inhibitor
- linear amide carbon-nitrogen bond hydrolase
- mercury ion binding
- DJ-1 family protein
- Type 1 glutamine amidotransferase (GATase1)-like domain
- peroxide acceptor oxidoreductase
- protease binding
- mRNA binding
- enzyme binding
- enzyme regulator activity
- protein binding
- receptor binding
- RNA binding
- DJ-1/PfpI family
- oxygen sensor
- binding protein
- kinase binding
- protein homodimerization
Pathways
Biological processes and signaling networks where the PARK7 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- metastasis
- liver cancer
- epithelial cancer
- glioblastoma
- glioblastoma cancer
- Parkinson disease
- Parkinson disease 7
- early onset Parkinson disease 6
- familial Parkinson disease
role in cell
- differentiation
- frequency
- expression in
- activation
- production in
- cell death
- quantity
- proliferation
- loss
- migration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- perinuclear region
- Endoplasmic Reticulum
- Mitochondria
- cytosol
- mitochondria-associated membranes
- mitochondrial matrix
- mitochondrial intermembrane space
- nucleoplasm
- sperm head
- synaptic vesicles
- neurites
- PML nuclear bodies
- chromatin
- perikaryon
- axons
- exosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PARK7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- insulin secretion
- adult locomotory behavior
- positive regulation of sequence-specific DNA binding transcription factor activity
- single fertilization
- methylglyoxal metabolic process
- negative regulation of protein binding
- regulation of androgen receptor signaling pathway
- negative regulation of ubiquitin-protein ligase activity
- protein deglycosylation
- inflammatory response
- positive regulation of transcription regulatory region DNA binding
- regulation of mitochondrial membrane potential
- autophagy
- negative regulation of ubiquitin-specific protease activity
- negative regulation of protein ubiquitination
- lactate biosynthetic process
- positive regulation of peptidyl-serine phosphorylation
- positive regulation of protein localization to nucleus
- detoxification of copper ion
- negative regulation of protein export from nucleus
- Ras protein signal transduction
- hydrogen peroxide metabolic process
- negative regulation of gene expression
- positive regulation of interleukin-8 production
- positive regulation of gene expression
- glucose homeostasis
- membrane hyperpolarization
- regulation of inflammatory response
- detection of oxidative stress
- membrane depolarization
- regulation of TRAIL production
- positive regulation of protein kinase B signaling cascade
- negative regulation of proteasomal ubiquitin-dependent protein catabolic process
- regulation of neuron apoptotic process
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of protein kinase activity
- negative regulation of neuron apoptotic process
- response to oxidative stress
- dopamine uptake involved in synaptic transmission
- negative regulation of protein sumoylation
- cellular response to hydrogen peroxide
- positive regulation of reactive oxygen species metabolic process
- positive regulation of protein complex assembly
- activation of protein kinase B activity
- negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway
- mitochondrion organization
- glycolate biosynthetic process
- positive regulation of acute inflammatory response to antigenic stimulus
- negative regulation of protein phosphorylation
- positive regulation of androgen receptor activity
- proteolysis
- negative regulation of extrinsic apoptotic signaling pathway
- cellular response to oxidative stress
- protein stabilization
- positive regulation of NAD(P)H oxidase activity
- detoxification of mercury ion
Cellular Component
Where in the cell the gene product is active
- PML body
- endoplasmic reticulum
- chromatin
- plasma membrane
- nucleoplasm
- nucleus
- mitochondrial intermembrane space
- adherens junction
- extracellular vesicular exosome
- perinuclear region of cytoplasm
- mitochondrial matrix
- cytoplasm
- cell body
- mitochondrion
- membrane raft
- cytosol
- axon
Molecular Function
What the gene product does at the molecular level
- double-stranded DNA binding
- single-stranded DNA binding
- copper ion binding
- cadherin binding
- mRNA binding
- superoxide dismutase copper chaperone activity
- kinase binding
- peroxiredoxin activity
- identical protein binding
- oxygen sensor activity
- protein homodimerization activity
- small protein activating enzyme binding
- peptidase activity
- receptor binding
- core promoter sequence-specific DNA binding
- small protein conjugating enzyme binding
- scaffold protein binding
- protein binding
- transcription coactivator activity
- androgen receptor binding
- mercury ion binding
- oxidoreductase activity, acting on peroxide as acceptor
- cytokine binding
- enzyme binding