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Aliases for PARK7 Gene

Aliases for PARK7 Gene

  • Parkinsonism Associated Deglycase 2 3 5
  • Parkinson Disease (Autosomal Recessive, Early Onset) 7 2 3
  • Protein Deglycase DJ-1 3 4
  • Parkinson Protein 7 2 3
  • Oncogene DJ1 3 4
  • DJ-1 3 4
  • Epididymis Secretory Sperm Binding Protein Li 67p 3
  • Parkinsonism-Associated Deglycase 4
  • Parkinson Disease Protein 7 4
  • Protein DJ-1 3
  • EC 3.5.1.124 4
  • EC 3.1.2.- 4
  • HEL-S-67p 3
  • GATD2 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 PI3K / Akt Signaling and Chks in Checkpoint Regulation. GO annotations related to this gene include protein homodimerization activity and receptor binding.

UniProtKB/Swiss-Prot for PARK7 Gene

  • Plays an important role in cell protection against oxidative stress and cell death acting as oxidative stress sensor and redox-sensitive chaperone and protease (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). In macrophages, interacts with the NADPH oxidase subunit NCF1to direct NADPH oxidase-dependent ROS production, and protects against sepsis (By similarity). Has been described as a protein deglycase that repairs methylglyoxal- and glyoxal-glycated amino acids and proteins, and releases repaired proteins and lactate or glycolate, respectively. Deglycates cysteine, arginine and lysine 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:22523093, PubMed:25416785, PubMed:26995087, PubMed:28013050). However, another work ascribes the deglycation activity to a TRIS buffer artifact (PubMed:27903648).

Gene Wiki entry for PARK7 Gene

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

Genomics for PARK7 Gene

Regulatory Elements for PARK7 Gene

Enhancers for PARK7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G008013 1.7 Ensembl ENCODE dbSUPER 29.6 +67.1 67139 15.9 CREB3L1 MLX FEZF1 DMAP1 YY1 SLC30A9 SP3 NFYC PPARGC1A MEF2D ENSG00000238290 PARK7 SLC45A1 ENSG00000236266 UTS2 ERRFI1 GC01P008012
GH01G008002 1.6 Ensembl ENCODE dbSUPER 30.1 +50.7 50671 4.3 HDGF PKNOX1 FOXA2 ARNT ZFP64 SIN3A FEZF1 ZNF2 YY1 CBX5 ENSG00000238290 PARK7 ERRFI1 SLC45A1 LINC01714 RNU1-7P TNFRSF9 UTS2 PER3 GC01P008012
GH01G008058 2 FANTOM5 Ensembl ENCODE dbSUPER 17.3 +106.5 106535 5.1 FOXA2 PKNOX1 MLX ARID4B YY1 SLC30A9 ZNF766 FOS KLF13 MXD4 ENSG00000238290 PARK7 ERRFI1 RPL7AP18 LOC100129776
GH01G008045 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.2 +92.9 92941 3.8 TBP HDAC1 SIN3A FEZF1 YY1 RFX5 GATA2 SCRT2 FOS CEBPB ENSG00000238290 PARK7 RPL7AP18
GH01G008115 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.4 +165.2 165189 8.5 FOXA2 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ENSG00000238290 PARK7 SLC45A1 RPL7AP18 LOC100129776
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000000849 9 1400 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766

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 StructureGene Density

RefSeq DNA sequence for PARK7 Gene

Proteins for PARK7 Gene

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

    Protein Symbol:
    Q99497-PARK7_HUMAN
    Recommended name:
    Protein 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). Interacts (via C-terminus) with NCF1; the interaction is enhanced by LPS and modulates NCF1 phosphorylation and membrane translocation (By similarity).

    Three dimensional structures from OCA and Proteopedia for PARK7 Gene

neXtProt entry for PARK7 Gene

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 Lys99 and Lys148
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PARK7 (DJ-1)
  • Cloud-Clone Corp. Antibodies for PARK7

Assay Products

No data available for DME Specific Peptides for PARK7 Gene

Domains & Families for PARK7 Gene

Protein Domains for PARK7 Gene

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

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 CatalyticActivity:
An N(omega)-(1-hydroxy-2-oxopropyl)-[protein]-L-arginine + H(2)O = a [protein]-L-arginine + (R)-lactate.
UniProtKB/Swiss-Prot CatalyticActivity:
An N(6)-(1-hydroxy-2-oxopropyl)-[protein]-L-lysine + H(2)O = a [protein]-L-lysine + (R)-lactate.
UniProtKB/Swiss-Prot CatalyticActivity:
An S-(1-hydroxy-2-oxopropyl)-[protein]-L-cysteine + H(2)O = a [protein]-L-cysteine + (R)-lactate.
UniProtKB/Swiss-Prot Function:
Plays an important role in cell protection against oxidative stress and cell death acting as oxidative stress sensor and redox-sensitive chaperone and protease (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). In macrophages, interacts with the NADPH oxidase subunit NCF1to direct NADPH oxidase-dependent ROS production, and protects against sepsis (By similarity). Has been described as a protein deglycase that repairs methylglyoxal- and glyoxal-glycated amino acids and proteins, and releases repaired proteins and lactate or glycolate, respectively. Deglycates cysteine, arginine and lysine 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:22523093, PubMed:25416785, PubMed:26995087, PubMed:28013050). However, another work ascribes the deglycation activity to a TRIS buffer artifact (PubMed:27903648).
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:0001047 NOT core promoter binding IC 15790595
GO:0003690 NOT double-stranded DNA binding IDA 22683601
GO:0003697 NOT single-stranded DNA binding IDA 22683601
GO:0003713 transcription coactivator activity TAS 16731528
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with PARK7: view
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PARK7

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PARK7 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 4
endoplasmic reticulum 3
cytoskeleton 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PARK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 16731528
GO:0005634 nucleus IDA 11477070
GO:0005737 cytoplasm IEA,IDA 12446870
GO:0005739 mitochondrion IMP 21785459
GO:0005747 colocalizes_with mitochondrial respiratory chain complex I IDA 19822128
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

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:0002866 positive regulation of acute inflammatory response to antigenic stimulus ISS --
GO:0006469 negative regulation of protein kinase activity IGI 15983381
GO:0006508 proteolysis 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

(10) Drugs for PARK7 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(7) 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

Unigene Clusters for PARK7 Gene

Parkinson protein 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PARK7

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PARK7 Gene

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



Protein tissue co-expression partners for PARK7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PARK7 Gene:

PARK7

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.

Evidence on tissue expression from TISSUES for PARK7 Gene

  • Nervous system(5)
  • Lung(4.8)
  • Liver(4.7)
  • Kidney(4.6)
  • Eye(3.5)
  • Blood(3.3)
  • Muscle(3.2)
  • Pancreas(3)
  • Heart(2.9)
  • Adrenal gland(2.3)
  • Thyroid gland(2.3)
  • Lymph node(2.2)
  • Intestine(2.1)
  • Spleen(2.1)
  • Stomach(2.1)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PARK7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • tongue
Pelvis:
  • urethra
  • urinary bladder
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with PARK7: view

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
chimpanzee
(Pan troglodytes)
Mammalia PARK7 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PARK7 34 35
  • 89.77 (n)
cow
(Bos Taurus)
Mammalia PARK7 34 35
  • 89.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PARK7 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Park7 34 16 35
  • 84.3 (n)
rat
(Rattus norvegicus)
Mammalia Park7 34
  • 84.3 (n)
oppossum
(Monodelphis domestica)
Mammalia PARK7 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves DJ-1 35
  • 90 (a)
OneToOne
PARK7 34
  • 79.37 (n)
lizard
(Anolis carolinensis)
Reptilia PARK7 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia park7 34
  • 71.78 (n)
Str.15245 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.11413 34
zebrafish
(Danio rerio)
Actinopterygii park7 34 35
  • 71.6 (n)
Dr.15530 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9560 34
fruit fly
(Drosophila melanogaster)
Insecta DJ-1alpha 35 34
  • 54.68 (n)
OneToMany
dj-1beta 35
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea djr-1.1 35 34
  • 57.3 (n)
OneToMany
djr-1.2 35
  • 44 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G53280 34
  • 50 (n)
rice
(Oryza sativa)
Liliopsida Os06g0531200 34
  • 48.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC22E12.03c 34
  • 47.11 (n)
Species where no ortholog for PARK7 was found in the sources mined by GeneCards:
  • 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
rs28938172 Pathogenic, Parkinson disease 7 (PARK7) [MIM:606324] 7,984,981(+) TGCGC(C/T)TGCAA reference, missense
rs74315351 Pathogenic, Parkinson disease 7 (PARK7) [MIM:606324] 7,962,863(+) GTCAT(A/G)AGGCG reference, missense
rs74315352 Pathogenic, Parkinson disease 7 (PARK7) [MIM:606324] 7,984,930(+) AAAAG(A/C)CGGCC reference, missense
rs74315353 Pathogenic, Parkinson disease 7 (PARK7) [MIM:606324] 7,965,425(+) AAAGA(C/G)GTTTG reference, missense
rs774005786 Parkinson disease 7 (PARK7) [MIM:606324] 7,970,951(+) TAGCC(A/G)CCATC reference, missense

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

Variant ID Type Subtype PubMed ID
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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PARK7

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

Disorders for PARK7 Gene

MalaCards: The human disease database

(20) 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
early-onset parkinson disease
amyotrophic lateral sclerosis-parkinsonism/dementia complex
  • amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
- 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:12851414, ECO:0000269 PubMed:12953260, ECO:0000269 PubMed:14607841, ECO:0000269 PubMed:14713311, ECO:0000269 PubMed:15254937, ECO:0000269 PubMed:15365989, ECO:0000269 PubMed:17846173, ECO:0000269 PubMed:19229105, ECO:0000269 PubMed:22523093, ECO:0000269 PubMed:23792957, ECO:0000269 PubMed:23847046}. 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 22 46 64
  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 4 22 64
  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 64
  4. Reduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson's disease-associated protein DJ-1. (PMID: 20186336) Krebiehl G. … Kruger R. (PLoS ONE 2010) 3 4 22 64
  5. Mitochondrial localization of DJ-1 leads to enhanced neuroprotection. (PMID: 18711745) Junn E. … Mouradian M.M. (J. Neurosci. Res. 2009) 3 4 22 64

Products for PARK7 Gene

  • Addgene plasmids for PARK7

Sources for PARK7 Gene

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