PARK7 (DJ-1): A Multifunctional Protein in Parkinson's Disease and Cancer
Explore the genomic, functional, and clinical significance of the PARK7 gene, including its role in oxidative stress response, mitochondrial health, and disease-associated mutations.
Gene Information Card
| Symbol | PARK7 |
|---|---|
| Full Name | Parkinsonism Associated Deglycase |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.23 |
| NCBI Gene ID | 11315 ncbi.nlm.nih.gov/gene/11315 |
| Ensembl ID | ENSG00000116288 |
| UniProt ID | Q99497 |
| OMIM ID | 602533 |
| HGNC ID | 1636 |
| Aliases | DJ-1, DJ1, HEL-S-67p, PARK7 |
Description
The PARK7 gene encodes the DJ-1 protein, a multifunctional protein involved in cellular protection against oxidative stress, mitochondrial regulation, and transcriptional modulation. Mutations in PARK7 are associated with autosomal recessive early-onset Parkinson's disease (PARK7 type). DJ-1 also plays roles in cancer progression, male fertility, and cellular senescence.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson's disease (autosomal recessive early-onset) | Loss-of-function mutations lead to reduced oxidative stress defense and mitochondrial dysfunction, causing dopaminergic neuron degeneration. | OMIM: 606324; ClinVar: pathogenic variants |
| Cancer (multiple types) | Overexpression of DJ-1 promotes tumor cell survival by inhibiting PTEN and activating AKT pathway, enhancing resistance to apoptosis. | COSMIC: somatic mutations and overexpression in various cancers; PubMed studies |
| Male infertility | DJ-1 is involved in sperm maturation and motility; reduced expression is linked to asthenozoospermia. | UniProt: tissue expression; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High expression in neurons, especially in substantia nigra |
| Testis | High | High expression in spermatogonia and spermatozoa |
| Heart | Moderate | Moderate expression in cardiac muscle |
| Liver | Moderate | Moderate expression in hepatocytes |
| Kidney | Moderate | Moderate expression in renal tubules |
| Lung | Low | Low expression in bronchial epithelium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High | Used as model for Parkinson's disease studies |
| HeLa (cervical carcinoma) | High | Overexpressed in cancer cell lines |
| MCF7 (breast carcinoma) | High | Overexpression linked to tumor progression |
| HepG2 (hepatocellular carcinoma) | Moderate | Expressed in liver cancer cells |
| A549 (lung carcinoma) | Moderate | Expressed in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497A>G (p.Asp149Gly) | Missense | Rare | Loss of function; associated with Parkinson's disease |
| c.192G>C (p.Lys64Arg) | Missense | Rare | Loss of function; associated with Parkinson's disease |
| c.293C>T (p.Pro98Leu) | Missense | Rare | Loss of function; associated with Parkinson's disease |
| c.56G>A (p.Arg19Gln) | Missense | Rare | Loss of function; associated with Parkinson's disease |
| c.1A>G (p.Met1Val) | Start codon loss | Rare | Loss of function; associated with Parkinson's disease |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations in PARK7 result in loss of DJ-1's protective functions, including reduced deglycase activity, impaired oxidative stress response, and mitochondrial dysfunction, leading to neurodegeneration.
Gain of Function (GOF)
In cancer, overexpression or certain somatic mutations may confer gain-of-function properties, enhancing cell survival and proliferation through AKT pathway activation.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by forming inactive heterodimers with wild-type DJ-1, reducing overall cellular activity.
View complete mutation data：
Gene Ontology (GO)
| • protein deglycase activity | • oxidoreductase activity |
| • protein homodimerization activity | • mitochondrial membrane |
| • cytoplasm | • nucleus |
| • response to oxidative stress | • negative regulation of apoptotic process |
| • positive regulation of cell proliferation | • regulation of transcription by RNA polymerase II |
Pathways
• Oxidative stress response
• Mitochondrial quality control
• PI3K/AKT signaling pathway
• PTEN regulation
• Parkinson's disease pathway
Protein Summary
The DJ-1 protein is a 189-amino acid protein that functions as a molecular chaperone and oxidative stress sensor. It exists as a homodimer and translocates to mitochondria under oxidative stress to protect cells. DJ-1 also regulates transcription by interacting with various transcription factors and modulates cell survival pathways. Its deglycase activity repairs damaged proteins and nucleic acids. Loss of DJ-1 function leads to mitochondrial dysfunction and increased susceptibility to oxidative damage, contributing to Parkinson's disease pathogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Park7 Knockout HT22 Cell Line | EDJ-KQ72 | Mouse | 57320 | Details Get a Quote |
| PARK7 Knockout HEK293 Cell Line | EDJ-KQ969 | Human | 11315 | Details Get a Quote |
| PARK7 Knockout A-549 Cell Line | EDJ-KQ19975 | Human | 11315 | Details Get a Quote |
| PARK7 Knockout HeLa Cell Line | EDJ-KQ19977 | Human | 11315 | Details Get a Quote |
| PARK7 Knockout HCT 116 Cell Line | EDJ-KQ18655 | Human | 11315 | Details Get a Quote |
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