Aliases for PARK7 Gene
Aliases for PARK7 Gene
External Ids for PARK7 Gene
- HGNC: 16369
- Entrez Gene: 11315
- Ensembl: ENSG00000116288
- OMIM: 602533
- UniProtKB: Q99497
Previous GeneCards Identifiers for PARK7 Gene
- GC01U990455
- GC01P007830
- GC01P007618
- GC01P007731
- GC01P007956
- GC01P007944
- GC01P007169
- GC01P008014
Summaries 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).
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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around PARK7 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the PARK7 gene promoter:
Regulatory Element Products
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:
-
- 1p36.23 by Ensembl
- 1p36.23 by Entrez Gene
- 1p36.23 by HGNC
PARK7 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression 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
Other Protein References for PARK7 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PARK7 (Park7/DJ-1)
- Cell Signaling Technology (CST) Antibodies for PARK7 (DJ-1)
-
Custom Antibody ServicesOriGene Antibodies for PARK7
- Novus Biologicals Antibodies for PARK7
-
Abcam antibodies for PARK7
-
Cloud-Clone Corp. Antibodies for PARK7
- Invitrogen Antibodies for PARK7
- antibodies-online Antibodies for PARK7: See all 240
- GeneTex PARK7 antibody for PARK7
-
Santa Cruz Biotechnology (SCBT) Antibodies for PARK7
Protein Products
-
OriGene Purified Proteins for PARK7
- Search Origene for MassSpec and Protein Over-expression Lysates for PARK7
- Origene Custom Protein Services for PARK7
- Sino Biological Recombinant Proteins for PARK7
- Browse Sino Biological Cell Lysates
-
Cloud-Clone Corp. Proteins for PARK7
- antibodies-online Proteins for PARK7: See all 33
- Search antibodies-online for peptides
- Search GeneTex for Proteins for PARK7
-
Abcam proteins for PARK7
Assay Products
- R&D Systems Luminex Assays, ELISAs, and other biochemical assays for PARK7 (Park7/DJ-1)
- antibodies-online Kits for PARK7: See all 16
No data available for DME Specific Peptides for PARK7 Gene
Domains & Families for PARK7 Gene
Gene Families for PARK7 Gene
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- Family:
-
- Belongs to the peptidase C56 family.
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
| 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 | -- |
Phenotypes for PARK7 Gene
- MGI mutant phenotypes for PARK7:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for PARK7:
Animal Models for PARK7 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PARK7
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PARK7 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PARK7 gene
- Search ViGene Biosciences for PARK7
CRISPR Products
-
OriGene CRISPR knockouts for PARK7
-
Santa Cruz Biotechnology (SCBT) CRISPR for PARK7
- GenScript: Design CRISPR guide RNA sequences for PARK7
miRNA for PARK7 Gene
- miRTarBase miRNAs that target PARK7
-
- hsa-mir-26b-5p (MIRT029955)
- hsa-mir-92b-3p (MIRT040717)
- hsa-mir-222-3p (MIRT046823)
- hsa-mir-92a-3p (MIRT049137)
- hsa-mir-5680 (MIRT290040)
- hsa-mir-4438 (MIRT562976)
- hsa-mir-3674 (MIRT562977)
- hsa-mir-135b-3p (MIRT562978)
- hsa-mir-6806-5p (MIRT562979)
- hsa-mir-203a-3p (MIRT562980)
- hsa-mir-4478 (MIRT562981)
- hsa-mir-4419b (MIRT562982)
- hsa-mir-3929 (MIRT562983)
miRNA Products
- Search ViGene Biosciences for PARK7
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PARK7
- Browse OriGene Inhibitory RNA Products For PARK7
-
ViGene Biosciences ready-to-package AAV shRNAs for PARK7 gene
Clone Products
- Sino Biological Human cDNA Clone for PARK7
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for PARK7
- VectorBuilder custom plasmid, inducible vectors for PARK7
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PARK7
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for PARK7
-
ViGene Biosciences adenoviral particle packaged cDNA for PARK7 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PARK7 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PARK7 gene
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}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| endoplasmic reticulum | 3 |
| cytoskeleton | 1 |
| lysosome | 1 |
| 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 |
Pathways & Interactions for PARK7 Gene
Pathways by source for PARK7 Gene
2 Cell Signaling Technology pathways for PARK7 Gene
4 BioSystems pathways for PARK7 Gene
1 KEGG pathway for PARK7 Gene
1 Qiagen pathway for PARK7 Gene
Interacting Proteins for PARK7 Gene
Selected Interacting proteins:
ENSP00000340278
Q99497-PARK7_HUMAN
for PARK7 Gene via
STRING
MINT
IID
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for PARK7 Gene
Transcripts for PARK7 Gene
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 :
CRISPR Products
-
OriGene CRISPR knockouts for PARK7
-
Santa Cruz Biotechnology (SCBT) CRISPR for PARK7
- GenScript: Design CRISPR guide RNA sequences for PARK7
miRNA Products
- Search ViGene Biosciences for PARK7
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PARK7
- Browse OriGene Inhibitory RNA Products For PARK7
-
ViGene Biosciences ready-to-package AAV shRNAs for PARK7 gene
Clone Products
- Sino Biological Human cDNA Clone for PARK7
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for PARK7
- VectorBuilder custom plasmid, inducible vectors for PARK7
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PARK7
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| 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: |
Expression for PARK7 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PARK7 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PARK7 Gene:
PARK7SOURCE GeneReport for Unigene cluster for PARK7 Gene:
Hs.419640mRNA 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
Primer Products
-
OriGene qPCR primer pairs for PARK7
-
OriGene qPCR primer pairs and template standards for PARK7
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PARK7 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PARK7 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | PARK7 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PARK7 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Park7 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Park7 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PARK7 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | DJ-1 35 |
|
OneToOne | |
| PARK7 34 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | PARK7 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | park7 34 |
|
||
| Str.15245 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.11413 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | park7 34 35 |
|
||
| Dr.15530 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9560 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | DJ-1alpha 35 34 |
|
OneToMany | |
| dj-1beta 35 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | djr-1.1 35 34 |
|
OneToMany | |
| djr-1.2 35 |
|
OneToMany | |||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G53280 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os06g0531200 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC22E12.03c 34 |
|
- 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)
Paralogs for PARK7 Gene
Pseudogenes.org Pseudogenes for PARK7 Gene
No data available for Paralogs for PARK7 Gene
Variants 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PARK7 Gene
Disorders for PARK7 Gene
(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 |
|
|
| parkinson disease, juvenile, type 2 |
|
|
| park7-related parkinson disease |
|
|
| early-onset parkinson disease |
|
|
| amyotrophic lateral sclerosis-parkinsonism/dementia complex |
|
|
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
No data available for Genatlas for PARK7 Gene
Publications for PARK7 Gene
- 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
- 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
- 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
- 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
- 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
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- Mammalian expression: PiggyBac
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- Yeast expression
Sources for PARK7 Gene
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