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PARK7 Gene(Protein Coding)

Parkinsonism Associated Deglycase

GCID:
GC01P007957
GIFtS:
70
Genes Participants
UDN Logo

Aliases for PARK7 Gene

Aliases for PARK7 Gene

  • Parkinsonism Associated Deglycase 2 3
  • Parkinson Protein 7 2 3 5
  • Parkinson Disease (Autosomal Recessive, Early Onset) 7 2 3
  • Oncogene DJ1 3 4
  • DJ-1 3 4
  • Epididymis Secretory Sperm Binding Protein Li 67p 3
  • Parkinson Disease Protein 7 4
  • Protein DJ-1 3
  • EC 3.1.2.- 4
  • EC 3.5.1.- 4
  • HEL-S-67p 3
  • DJ1 3

External Ids for PARK7 Gene

Previous GeneCards Identifiers for PARK7 Gene

  • GC01U990455
  • GC01P007830
  • GC01P007618
  • GC01P007731
  • GC01P007956
  • GC01P007944
  • GC01P007169
  • GC01P008014

Summaries for PARK7 Gene

Entrez Gene Summary for PARK7 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]

GeneCards Summary for PARK7 Gene

PARK7 (Parkinsonism Associated Deglycase) is a Protein Coding gene. Diseases associated with PARK7 include Parkinson Disease 7, Autosomal Recessive Early-Onset and Parkinson Disease, Juvenile, Type 2. Among its related pathways are Androgen receptor signaling pathway and Parkinsons Disease Pathway. GO annotations related to this gene include protein homodimerization activity and receptor binding.

UniProtKB/Swiss-Prot for PARK7 Gene

  • Protein deglycase that repairs methylglyoxal- and glyoxal-glycated amino acids and proteins, and releases repaired proteins and lactate or glycolate, respectively. Deglycates cysteines, arginines and lysines residues in proteins, and thus reactivates these proteins by reversing glycation by glyoxals. Acts on early glycation intermediates (hemithioacetals and aminocarbinols), preventing the formation of advanced glycation endproducts (AGE) (PubMed:25416785). Plays an important role in cell protection against oxidative stress and cell death acting as oxidative stress sensor and redox-sensitive chaperone and protease; functions probably related to its primary function (PubMed:17015834, PubMed:20304780, PubMed:18711745, PubMed:12796482, PubMed:19229105, PubMed:25416785). It is involved in neuroprotective mechanisms like the stabilization of NFE2L2 and PINK1 proteins, male fertility as a positive regulator of androgen signaling pathway as well as cell growth and transformation through, for instance, the modulation of NF-kappa-B signaling pathway (PubMed:12612053, PubMed:15502874, PubMed:14749723, PubMed:17015834, PubMed:21097510, PubMed:18711745). Its involvement in protein repair could also explain other unrelated functions. Eliminates hydrogen peroxide and protects cells against hydrogen peroxide-induced cell death (PubMed:16390825). Required for correct mitochondrial morphology and function as well as for autophagy of dysfunctional mitochondria (PubMed:19229105, PubMed:16632486). Plays a role in regulating expression or stability of the mitochondrial uncoupling proteins SLC25A14 and SLC25A27 in dopaminergic neurons of the substantia nigra pars compacta and attenuates the oxidative stress induced by calcium entry into the neurons via L-type channels during pacemaking (PubMed:18711745). Regulates astrocyte inflammatory responses, may modulate lipid rafts-dependent endocytosis in astrocytes and neuronal cells (PubMed:23847046). Binds to a number of mRNAs containing multiple copies of GG or CC motifs and partially inhibits their translation but dissociates following oxidative stress (PubMed:18626009). Metal-binding protein able to bind copper as well as toxic mercury ions, enhances the cell protection mechanism against induced metal toxicity (PubMed:23792957).

Gene Wiki entry for PARK7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PARK7 Gene

Genomics for PARK7 Gene

Products:

  1. Regulatory Element

Regulatory Elements for PARK7 Gene

Enhancers for PARK7 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PARK7 on UCSC Golden Path with GeneCards custom track

Promoters for PARK7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PARK7 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PARK7 gene promoter:

Genomic Location for PARK7 Gene

Chromosome:
1
Start:
7,954,291 bp from pter
End:
7,985,505 bp from pter
Size:
31,215 bases
Orientation:
Plus strand

Genomic View for PARK7 Gene

Genes around PARK7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PARK7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PARK7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PARK7 Gene

Proteins for PARK7 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PARK7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99497-PARK7_HUMAN
    Recommended name:
    Protein deglycase DJ-1
    Protein Accession:
    Q99497
    Secondary Accessions:
    • B2R4Z1
    • O14805
    • Q6DR95
    • Q7LFU2

    Protein attributes for PARK7 Gene

    Size:
    189 amino acids
    Molecular mass:
    19891 Da
    Quaternary structure:
    • Homodimer (PubMed:12851414, PubMed:12796482, PubMed:12855764). Binds EFCAB6/DJBP and PIAS2 (PubMed:11477070, PubMed:12851414, PubMed:12612053). Part of a ternary complex containing PARK7, EFCAB6/DJBP and AR (PubMed:12612053). Interacts (via N-terminus) with OTUD7B (PubMed:21097510). Interacts with BBS1, HIPK1, CLCF1 and MTERF (PubMed:16390825, PubMed:21097510). Forms a complex with PINK1 and PARK2 (PubMed:19229105).

    Three dimensional structures from OCA and Proteopedia for PARK7 Gene

neXtProt entry for PARK7 Gene

Proteomics data for PARK7 Gene at MOPED

Protein Expression for PARK7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PARK7 Gene

  • Cys-106 is easily oxidized to sulfinic acid.
  • Sumoylated on Lys-130 by PIAS2 or PIAS4; which is enhanced after ultraviolet irradiation and essential for cell-growth promoting activity and transforming activity.
  • Undergoes cleavage of a C-terminal peptide and subsequent activation of protease activity in response to oxidative stress.
  • Ubiquitination at Lys 99 and Lys 148
  • Modification sites at PhosphoSitePlus

Other Protein References for PARK7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PARK7 (DJ-1)

No data available for DME Specific Peptides for PARK7 Gene

Domains & Families for PARK7 Gene

Gene Families for PARK7 Gene

HGNC:

Protein Domains for PARK7 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PARK7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99497

UniProtKB/Swiss-Prot:

PARK7_HUMAN :
  • Belongs to the peptidase C56 family.
Family:
  • Belongs to the peptidase C56 family.
genes like me logo Genes that share domains with PARK7: view

Function for PARK7 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for PARK7 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=173.4 uM for casein {ECO:0000269 PubMed:20304780}; KM=0.44 mM for glycated N-acetylarginine (at pH 7.0 and 22 degrees Celsius) {ECO:0000269 PubMed:25416785}; KM=0.35 mM for glycated N-acetyllysine (at pH 7.0 and 22 degrees Celsius) {ECO:0000269 PubMed:25416785}; KM=0.32 mM for glycated N-acetylcysteine (at pH 7.0 and 22 degrees Celsius) {ECO:0000269 PubMed:25416785}; Note=kcat is 0.27 sec(-1) for the deglycation of glycated N- acetylarginine. kcat is 0.28 sec(-1) for the deglycation of glycated N-acetyllysine. kcat is 0.42 sec(-1) for the deglycation of glycated N-acetylcysteine. {ECO:0000269 PubMed:25416785};
UniProtKB/Swiss-Prot Function:
Protein deglycase that repairs methylglyoxal- and glyoxal-glycated amino acids and proteins, and releases repaired proteins and lactate or glycolate, respectively. Deglycates cysteines, arginines and lysines residues in proteins, and thus reactivates these proteins by reversing glycation by glyoxals. Acts on early glycation intermediates (hemithioacetals and aminocarbinols), preventing the formation of advanced glycation endproducts (AGE) (PubMed:25416785). Plays an important role in cell protection against oxidative stress and cell death acting as oxidative stress sensor and redox-sensitive chaperone and protease; functions probably related to its primary function (PubMed:17015834, PubMed:20304780, PubMed:18711745, PubMed:12796482, PubMed:19229105, PubMed:25416785). It is involved in neuroprotective mechanisms like the stabilization of NFE2L2 and PINK1 proteins, male fertility as a positive regulator of androgen signaling pathway as well as cell growth and transformation through, for instance, the modulation of NF-kappa-B signaling pathway (PubMed:12612053, PubMed:15502874, PubMed:14749723, PubMed:17015834, PubMed:21097510, PubMed:18711745). Its involvement in protein repair could also explain other unrelated functions. Eliminates hydrogen peroxide and protects cells against hydrogen peroxide-induced cell death (PubMed:16390825). Required for correct mitochondrial morphology and function as well as for autophagy of dysfunctional mitochondria (PubMed:19229105, PubMed:16632486). Plays a role in regulating expression or stability of the mitochondrial uncoupling proteins SLC25A14 and SLC25A27 in dopaminergic neurons of the substantia nigra pars compacta and attenuates the oxidative stress induced by calcium entry into the neurons via L-type channels during pacemaking (PubMed:18711745). Regulates astrocyte inflammatory responses, may modulate lipid rafts-dependent endocytosis in astrocytes and neuronal cells (PubMed:23847046). Binds to a number of mRNAs containing multiple copies of GG or CC motifs and partially inhibits their translation but dissociates following oxidative stress (PubMed:18626009). Metal-binding protein able to bind copper as well as toxic mercury ions, enhances the cell protection mechanism against induced metal toxicity (PubMed:23792957).
UniProtKB/Swiss-Prot Induction:
By hydrogen peroxide and UV irradiation.

Enzyme Numbers (IUBMB) for PARK7 Gene

Gene Ontology (GO) - Molecular Function for PARK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003690 NOT double-stranded DNA binding IDA 22683601
GO:0003697 NOT single-stranded DNA binding IDA 22683601
GO:0005102 receptor binding IPI 21785459
GO:0050681 androgen receptor binding IPI 17510388
GO:0051920 peroxiredoxin activity IEA --
genes like me logo Genes that share ontologies with PARK7: view

Phenotypes for PARK7 Gene

MGI mutant phenotypes for PARK7:
inferred from 6 alleles
GenomeRNAi human phenotypes for PARK7:
genes like me logo Genes that share phenotypes with PARK7: view

Human Phenotype Ontology for PARK7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PARK7 Gene

MGI Knock Outs for PARK7:

Animal Model Products

CRISPR Products

miRNA for PARK7 Gene

miRTarBase miRNAs that target PARK7

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PARK7 Gene

Localization for PARK7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PARK7 Gene

Cell membrane; Lipid-anchor. Cytoplasm. Nucleus. Membrane raft. Mitochondrion. Note=Under normal conditions, located predominantly in the cytoplasm and, to a lesser extent, in the nucleus and mitochondrion. Translocates to the mitochondrion and subsequently to the nucleus in response to oxidative stress and exerts an increased cytoprotective effect against oxidative damage (PubMed:18711745). Detected in tau inclusions in brains from neurodegenerative disease patients (PubMed:14705119). Membrane raft localization in astrocytes and neuronal cells requires palmitoylation. {ECO:0000269 PubMed:14705119, ECO:0000269 PubMed:18711745}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PARK7 Gene COMPARTMENTS Subcellular localization image for PARK7 gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 3
endoplasmic reticulum 2
cytoskeleton 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PARK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IMP 21785459
GO:0030424 axon ISS --
genes like me logo Genes that share ontologies with PARK7: view

Pathways & Interactions for PARK7 Gene

genes like me logo Genes that share pathways with PARK7: view

Pathways by source for PARK7 Gene

1 Sino Biological pathway for PARK7 Gene
2 Cell Signaling Technology pathways for PARK7 Gene
1 KEGG pathway for PARK7 Gene
1 Qiagen pathway for PARK7 Gene

Gene Ontology (GO) - Biological Process for PARK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IGI 15983381
GO:0001963 synaptic transmission, dopaminergic IEA --
GO:0006508 proteolysis IEA --
GO:0006517 protein deglycosylation IDA 25416785
GO:0006954 inflammatory response IEA --
genes like me logo Genes that share ontologies with PARK7: view

No data available for SIGNOR curated interactions for PARK7 Gene

Drugs & Compounds for PARK7 Gene

Products:

  1. Drug

(9) Drugs for PARK7 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Double Oxidized Cysteine Experimental Pharma Target 0

(9) Additional Compounds for PARK7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PARK7: view

Transcripts for PARK7 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for PARK7 Gene

(3) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(818) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PARK7 Gene

Parkinson protein 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PARK7 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
SP1: - - - - - -
SP2: - - - - -
SP3: - -
SP4: - - - - - - - -
SP5: - - -
SP6: -
SP7: - - - -
SP8:

Relevant External Links for PARK7 Gene

GeneLoc Exon Structure for
PARK7
ECgene alternative splicing isoforms for
PARK7

Expression for PARK7 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for PARK7 Gene

mRNA expression in normal human tissues for PARK7 Gene
mRNA expression by BioGPS for PARK7 GenemRNA expression by GTEx for PARK7 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PARK7 Gene



SOURCE GeneReport for Unigene cluster for PARK7 Gene Hs.419640

mRNA Expression by UniProt/SwissProt for PARK7 Gene

Q99497-PARK7_HUMAN
Tissue specificity: Highly expressed in pancreas, kidney, skeletal muscle, liver, testis and heart. Detected at slightly lower levels in placenta and brain (at protein level). Detected in astrocytes, Sertoli cells, spermatogonia, spermatids and spermatozoa.
genes like me logo Genes that share expression patterns with PARK7: view

Protein tissue co-expression partners for PARK7 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for PARK7 Gene

Orthologs for PARK7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PARK7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia PARK7 35
  • 89.59 (n)
  • 96.3 (a)
PARK7 36
  • 96 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia PARK7 35
  • 89.77 (n)
  • 95.77 (a)
PARK7 36
  • 96 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Park7 35
  • 84.3 (n)
  • 91.53 (a)
Park7 16
Park7 36
  • 92 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Park7 35
  • 84.3 (n)
  • 91.53 (a)
oppossum
(Monodelphis domestica)
 Mammalia PARK7 36
  • 84 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PARK7 36
  • 89 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia PARK7 36
  • 99 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PARK7 35
  • 79.37 (n)
  • 89.95 (a)
DJ-1 36
  • 90 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PARK7 36
  • 86 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia park7 35
  • 71.78 (n)
  • 77.25 (a)
Str.15245 35
African clawed frog
(Xenopus laevis)
 Amphibia Xl.11413 35
zebrafish
(Danio rerio)
 Actinopterygii Dr.15530 35
park7 35
  • 71.6 (n)
  • 83.07 (a)
park7 36
  • 83 (a)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9560 35
fruit fly
(Drosophila melanogaster)
 Insecta DJ-1alpha 35
  • 54.68 (n)
  • 56.74 (a)
DJ-1alpha 36
  • 47 (a)
 OneToMany
dj-1beta 36
  • 48 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea djr-1.1 35
  • 57.3 (n)
  • 54.05 (a)
djr-1.1 36
  • 52 (a)
 OneToMany
djr-1.2 36
  • 44 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G53280 35
  • 50 (n)
  • 44.32 (a)
rice
(Oryza sativa)
 Liliopsida Os06g0531200 35
  • 48.4 (n)
  • 41.81 (a)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAC22E12.03c 35
  • 47.11 (n)
  • 35.33 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 52 (a)
 OneToOne
Species with no ortholog for PARK7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PARK7 Gene

ENSEMBL:
Gene Tree for PARK7 (if available)
TreeFam:
Gene Tree for PARK7 (if available)

Paralogs for PARK7 Gene

Pseudogenes.org Pseudogenes for PARK7 Gene

genes like me logo Genes that share paralogs with PARK7: view

No data available for Paralogs for PARK7 Gene

Variants for PARK7 Gene

Sequence variations from dbSNP and Humsavar for PARK7 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_020492 Parkinson disease 7 (PARK7)
VAR_020493 Parkinson disease 7 (PARK7)
rs71653619 - 7,970,934(+) AAACC(A/G)GAAGG reference, missense
VAR_020495 Parkinson disease 7 (PARK7)
rs74315352 Parkinson disease 7 (PARK7) 7,984,930(+) AAAAG(A/C)CGGCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PARK7 Gene

Variant ID Type Subtype PubMed ID
nsv871360 CNV Gain 21882294
nsv1521 CNV Insertion 18451855

Variation tolerance for PARK7 Gene

Residual Variation Intolerance Score: 59.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PARK7 Gene

Human Gene Mutation Database (HGMD)
PARK7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PARK7 Gene

Disorders for PARK7 Gene

MalaCards: The human disease database

(19) MalaCards diseases for PARK7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
parkinson disease 7, autosomal recessive early-onset
  • autosomal recessive early-onset parkinson disease 7
parkinson disease, juvenile, type 2
  • autosomal recessive juvenile parkinson disease 2
park7-related parkinson disease
  • dj-1-related parkinson disease
amyotrophic lateral sclerosis-parkinsonism/dementia complex
  • amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to
snca-related parkinson disease
  • lewy body parkinsonism
- elite association - COSMIC cancer census association via MalaCards
Search PARK7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PARK7_HUMAN
  • Parkinson disease 7 (PARK7) [MIM:606324]: A neurodegenerative disorder characterized by resting tremor, postural tremor, bradykinesia, muscular rigidity, anxiety and psychotic episodes. PARK7 has onset before 40 years, slow progression and initial good response to levodopa. Some patients may show traits reminiscent of amyotrophic lateral sclerosis-parkinsonism/dementia complex (Guam disease). {ECO:0000269 PubMed:12446870, ECO:0000269 PubMed:12953260, ECO:0000269 PubMed:15254937, ECO:0000269 PubMed:15365989}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PARK7

Genetic Association Database (GAD)
PARK7
Human Genome Epidemiology (HuGE) Navigator
PARK7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PARK7
genes like me logo Genes that share disorders with PARK7: view

No data available for Genatlas for PARK7 Gene

Publications for PARK7 Gene

  1. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. (PMID: 14872018) Hedrich K. … Klein C. (Neurology 2004) 3 4 23 48 67
  2. DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in cooperation with ras. (PMID: 9070310) Nagakubo D. … Ariga H. (Biochem. Biophys. Res. Commun. 1997) 2 3 23
  3. Parkinsonism-associated protein DJ-1/Park7 is a major protein deglycase that repairs methylglyoxal- and glyoxal-glycated cysteine, arginine and lysine residues. (PMID: 25416785) Richarme G. … Lamouri A. (J. Biol. Chem. 2015) 2 3
  4. Loss of function of DJ-1 triggered by Parkinson's disease-associated mutation is due to proteolytic resistance to caspase-6. (PMID: 19680261) Giaime E. … Alves da Costa C. (Cell Death Differ. 2010) 3 23
  5. Increased interaction between DJ-1 and the Mi-2/ nucleosome remodelling and deacetylase complex during cellular stress. (PMID: 20127688) Opsahl J.A. … Fladmark K.E. (Proteomics 2010) 3 23

Products for PARK7 Gene

  • Addgene plasmids for PARK7

Sources for PARK7 Gene

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