PARK7 Gene
protein-coding GIFtS: 67
GCID: GC01P007944
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parkinson protein 7(Previous names: Parkinson disease (autosomal recessive, early onset) 7...)
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Aliases for PARK7 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Parkinson Protein 71 2 | | Oncogene DJ12 3 | | DJ11 2 5 | | Protein DJ-12 | | DJ-11 2 | | EC 3.4.-.-3 | | Parkinson Disease (Autosomal Recessive, Early Onset) 71 2 | | Parkinson Disease Protein 73 |
Export aliases for PARK7 gene to outside databasesPrevious GC identifers: GC01U990455 GC01P007830 GC01P007618 GC01P007731 GC01P007956 GC01P007169 |
Summaries for PARK7 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for PARK7: The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgenreceptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidativestress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the causeof autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have beenidentified for this gene. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497Function: Protects cells against oxidative stress and cell death. Plays a role in regulating expression or stability ofthe mitochondrial uncoupling proteins SLC25A14 and SLC25A27 in dopaminergic neurons of the substantia nigra parscompacta and attenuates the oxidative stress induced by calcium entry into the neurons via L-type channels duringpacemaking. Eliminates hydrogen peroxide and protects cells against hydrogen peroxide-induced cell death. May act asan atypical peroxiredoxin-like peroxidase that scavenges hydrogen peroxide. Following removal of a C-terminal peptide,displays protease activity and enhanced cytoprotective action against oxidative stress-induced apoptosis. StabilizesNFE2L2 by preventing its association with KEAP1 and its subsequent ubiquitination. Binds to OTUD7B and inhibits itsdeubiquitinating activity. Enhances RELA nuclear translocation. Binds to a number of mRNAs containing multiple copiesof GG or CC motifs and partially inhibits their translation but dissociates following oxidative stress. Required forcorrect mitochondrial morphology and function and for autophagy of dysfunctional mitochondria. Regulates astrocyteinflammatory responses. Acts as a positive regulator of androgen receptor-dependent transcription. Preventsaggregation of SNCA. Plays a role in fertilization. Has no proteolytic activity. Has cell-growth promoting activityand transforming activity. May function as a redox-sensitive chaperone Gene Wiki entry for PARK7
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Genomic Views for PARK7 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_021937.19
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the PARK7 gene promoter: PPAR-gamma1 POU2F1 SREBP-1a AML1a POU2F1a SREBP-1c PPAR-gamma2 Pax-4a SREBP-1b c-Ets-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for PARK7
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PARK7 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p36.23 Ensembl cytogenetic band: 1p36.23 HGNC cytogenetic band: 1p36.23PARK7 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P007944: view genomic region
(about GC identifiers)
Start:
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8,014,351 bp from pter |
End:
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8,045,565 bp from pter |
Size:
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31,215 bases |
Orientation:
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plus strand |
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Proteins for PARK7 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497 (See
protein sequence)Recommended Name: Protein DJ-1 precursor Size: 189 amino acids; 19891 Da
Subunit: Homodimer. Binds EFCAB6/DJBP and PIAS2. Part of a ternary complex containing PARK7, EFCAB6/DJBP and AR.Interacts (via N-terminus) with OTUD7B. Interacts with BBS1, HIPK1, CLCF1 and MTERF
Subcellular location: Cytoplasm. Nucleus. Mitochondrion. Note=Under normal conditions, located predominantly in thecytoplasm and, to a lesser extent, in the nucleus and mitochondrion. Translocates to the mitochondrion andsubsequently to the nucleus in response to oxidative stress and exerts an increased cytoprotective effect againstoxidative damage. Detected in tau inclusions in brains from neurodegenerative disease patients
6/26 PDB 3D structures from and Proteopedia for PARK7 (see all 26):1J42 (3D)
  1P5F (3D)
  1PDV (3D)
  1PDW (3D)
  1PE0 (3D)
  1Q2U (3D)
 
Secondary accessions: B2R4Z1 O14805 Q6DR95 Q7LFU2Explore the universe of human proteins at neXtProt for PARK7: NX_Q99497
Post-translational modifications:
Sumoylated on Lys-130 by PIAS2 or PIAS4; which is enhanced after ultraviolet irradiation and essential for cell-growthpromoting activity and transforming activity1
Cys-106 is easily oxidized to sulfinic acid1
Undergoes cleavage of a C-terminal peptide and subsequent activation of protease activity in response to oxidativestress1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q99497 PARK7 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001116849.1 NP_009193.2 ENSEMBL proteins: ENSP00000465404 ENSP00000340278 ENSP00000418770 ENSP00000466242 ENSP00000366711 ENSP00000366708 ENSP00000466756 Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
PARK7 for ontologies About GeneDecksing
PARK7 Antibody Products: Assay Products for PARK7: |
Protein
Domains / Families for PARK7 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PARK7 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q99497ProtoNet protein and cluster: Q99497 1 Blocks protein family: IPB002818 Family of unknown function ThiJ/PfpI
UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497Similarity: Belongs to the peptidase C56 family |
Function for PARK7 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497Function: Protects cells against oxidative stress and cell death. Plays a role in regulating expression or stability ofthe mitochondrial uncoupling proteins SLC25A14 and SLC25A27 in dopaminergic neurons of the substantia nigra parscompacta and attenuates the oxidative stress induced by calcium entry into the neurons via L-type channels duringpacemaking. Eliminates hydrogen peroxide and protects cells against hydrogen peroxide-induced cell death. May act asan atypical peroxiredoxin-like peroxidase that scavenges hydrogen peroxide. Following removal of a C-terminal peptide,displays protease activity and enhanced cytoprotective action against oxidative stress-induced apoptosis. StabilizesNFE2L2 by preventing its association with KEAP1 and its subsequent ubiquitination. Binds to OTUD7B and inhibits itsdeubiquitinating activity. Enhances RELA nuclear translocation. Binds to a number of mRNAs containing multiple copiesof GG or CC motifs and partially inhibits their translation but dissociates following oxidative stress. Required forcorrect mitochondrial morphology and function and for autophagy of dysfunctional mitochondria. Regulates astrocyteinflammatory responses. Acts as a positive regulator of androgen receptor-dependent transcription. Preventsaggregation of SNCA. Plays a role in fertilization. Has no proteolytic activity. Has cell-growth promoting activityand transforming activity. May function as a redox-sensitive chaperoneBiophysicochemical properties: Kinetic parameters: KM=173.4 uM for casein;Induction: By hydrogen peroxide and UV irradiationEnzyme Number (IUBMB): EC 3.4.-.-1
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PARK7 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PARK7 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): PARK7 (NM_007262) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PARK7 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PARK7  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PARK7 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
PARK7 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for PARK7: Animal Models: Mouse knock-outs for PARK7: Park7tm1Cai Park7tm1Tmd Park7tm1Xz Park7tm1Shn Park7tm1Dsp 5 MGI mutant phenotypes (inferred from 6 alleles ) (MGI details for Park7):
PARK7 for phenotypes About GeneDecksing
|
Pathways & Interactions for PARK7 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Neuroscience | | | 2 | PI3K / Akt Signaling | | | 3 | Parkinsons Disease Pathway | | | 4 | Synaptic Vesicle Pathway | | | 5 | Alpha-synuclein signaling | |
Pathway sources See GeneCards unified pathways Show all pathways
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for PARK7 2
Cell Signaling Technology (CST) Pathways for PARK7 4 BioSystems Pathways for PARK7 
1
Kegg Pathway (Kegg details for PARK7):
PARK7 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PARK7
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/69 Interacting proteins for PARK7 (Q994971, 2, 3 ENSP000003402784) via UniProtKB, MINT, STRING, and/or I2D (see all 69)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| MTA2 | O947761, 3, ENSP000002788234 | EBI-1164361,EBI-1783035 I2D:
score=2 STRING: ENSP00000278823 | | OTUD7B | Q6GQQ91, 3, ENSP000003581314 | EBI-1164361,EBI-527784 I2D:
score=2 STRING: ENSP00000358131 | | AR | P102751, 3, ENSP000003638224 | EBI-1164361,EBI-608057 I2D:
score=1 STRING: ENSP00000363822 | | DAXX | Q9UER71, 3, ENSP000003968764 | EBI-1164361,EBI-77321 I2D:
score=2 STRING: ENSP00000396876 STRING: ENSP00000266000 | | PPP2R1A | P301533, ENSP000003248044 | I2D:
score=3 STRING: ENSP00000324804 | About this table
Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28): About this table
PARK7 for ontologies About GeneDecksing
|
Drugs & Compounds for PARK7 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
PARK7 for compounds About GeneDecksing
Browse Tocris compounds for PARK7
1 DrugBank Compound for PARK7 About this table
10/17 Novoseek chemical compound relationships for PARK7 gene (see all 17) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| e 64d |
76.3 |
9 |
15365989 (3), 17451229 (1), 20186336 (1), 15663963 (1) |
| sulfinic acid |
59.7 |
3 |
16403519 (2), 16181642 (1) |
| rotenone |
56 |
8 |
18377993 (3), 16439141 (2), 16854843 (2), 18930142 (1) |
| 6-hydroxydopamine |
51.9 |
8 |
18377993 (3), 18974921 (1), 16860563 (1), 16227205 (1) (see all 5) |
| dopamine |
46.9 |
33 |
16978583 (4), 18974921 (4), 19703902 (3), 16227205 (2) (see all 9) |
| cysteine |
34.6 |
35 |
16316629 (3), 19124468 (2), 16935423 (2), 18570440 (2) (see all 13) |
| h2o2 |
30.8 |
20 |
16935423 (2), 15081400 (2), 20046643 (2), 14652021 (1) (see all 10) |
| levodopa |
29.9 |
1 |
19703902 (1) |
| oxygen |
17.5 |
13 |
16403519 (1), 16115732 (1), 18430896 (1), 15219840 (1) (see all 12) |
| pyrimidine |
14.5 |
4 |
16731528 (2), 15790595 (1), 18689799 (1) |
Search CenterWatch for drugs/clinical trials and news about PARK7 
|
Transcripts for PARK7 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for PARK7 gene (2 alternative transcripts): NM_001123377.1 NM_007262.4 Unigene Cluster for PARK7: Parkinson protein 7 Hs.419640 [show with all ESTs]Unigene Representative Sequence: BF96512110 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000493373 ENST00000460192 ENST00000338639(uc001aou.4 uc001aox.4 uc001aov.4) ENST00000493678 ENST00000377493 ENST00000465354 ENST00000377491 ENST00000377488 ENST00000497113 ENST00000469225
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PARK7 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PARK7 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): PARK7 (NM_007262) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PARK7 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PARK7  |
Additional cDNA sequence: AB073864.1 AF021819.1 AK130886.1 AK312000.1 BC008188.2 D61380.2 24/30 DOTS entries (see all 30): DT.100864956 DT.448826 DT.91912005 DT.100864954 DT.100864946 DT.99944190 DT.91858715 DT.100723157 DT.121340910 DT.95171052 DT.100864949 DT.100864951 DT.100864952 DT.95171053 DT.91717622 DT.95171037 DT.100864945 DT.100864955 DT.121340885 DT.121340900 DT.121340908 DT.121340933 DT.121340949 DT.91778970 818 AceView cDNA sequences (see top 24): BM760096 BM760893 BU167723 D61380 BQ436114 AI174859 BM792160 AV704886 CD047909 BE550383 BM712090 AK091679 BG113506 BQ643180 BI085219 AX747125 BU533141 T34178 AA315511 BM771936 BI830621 BU159556 BM908816 AI042422 CB146358 AA773602 AI340291 BX324483 AA312271 H95132 BM771807 BM739440 BM739800 BU507463 BM663446 BM771427 BQ448057 BQ028408 BF038857 BM970518 BU657605 AA338326 BQ420525 CR618546 BM700123 BM759942 CD673038 AA535605 BM835995 BM670136 BM759196 AA315948 BM760127 BM760169 F20533 BM824731 CD672896 BM756396 Z41594 BQ052914 AA602784 BM972739 BM784009 AI761742 AI870594 BM704825 BM760888 BM771887 BU730460 BF002713 BU595800 BM771392 CF128271 BM740026 AA576779 CB106548 CB108284 BM760078 BM466509 BU682926 BI713009 BM832829 BU731851 BM565556 AA857890 BQ431243 AW327656 BM507294 BQ689827 AA621820 BI856917 BP870566 BM985360 BQ716403 BM464399 BM825330 BG754603 AA039589 W67123 AA251345 AI202676 BM750124 BM760109 AJ709120 C05103 AL556933 BM741700 BM756505 CR623919 CB996016 CR591123 CD050392 BM910109 AA670002 AA039588 BM852110 BQ437995 F31941 BM454284 BM707721 F26009 BF037742 BM914964 BM709072 BU733245 BM853389 T30497 BM757918 AA908891 BE515210 BU521162 BF094931 AL558174 BI826586 CR616157 AA664387 BM014914 BQ953110 CR623768 AA745919 BM738949 BQ030064 BI712058 AI291271 AA360496 AA782060 BM685534 BM504242 AI340293 AI340289 BU194430 BE794210 BE257972 BU687752 BG616612 BM739418 BQ887259 BQ421876 CB991918 BU193062 BE622126 BU630080 BI858850 BE386433 BU148556 BF984854 BI549623 CB044395 CF126312 CA848524 BM770994 BU660390 BG194659 CF597299 AA670451 AI673204 BE729243 AA430079 BG616245 BI492331 BE740170 CB111342 CB139182 BQ430301 CF130154 BG705972 D61243 BP345841 BE734171 BM764367 AI564730 R78197 AB073864 AA082613 AW248378 BQ928255 CB108094 CB997655 BG617951 AI741250 BQ212397 CB110305 BQ212897 CB113686 BU752245 BM759779 BG401600 NM_007262 T61971 AW327341 BG505648 BE542498 BM739007 BF340167 CD367391 BM752044 BG473010 D80701 BU527611 BP373347 BG564822 BU932550 BU660931 AI051570 T30771 F22363 BG216416 BM997585 BM750026 BE714792 BG574615 BM677199 BU603303 BE786592 CB994570 BG778103 BM785713 BM264575 BG756205 BE612711 BM020637 BI552690 BI858857 BU933538 AI023091 AI299226 BI669109 BM271944 BV174154 BU186540 BM833037 BU596224 CD247911 BX324480 BI860650 CB107062 CB114202 BM781506 BG542982 BM974673 AA359577 F03427 CD369322 BM473249 BG773967 BF979943 AA569602 AV701044 CB994113 BI862167 BM691038 BI259158 AA770265 BM554785 AI660534 BU945447 BM806720 BI599015 BG190934 BM747812 BE884370 BP342698 CB147694 BU189074 BM841559 BF036842 CF128522 BM475943 AV734385 BG183715 BM834633 AF021819 BM739429 BP870464 BM547712 BQ640074 BF663649 BM771443 BF244130 BM313333 BU688129 BU178542 T35586 T35472 CA309297 BF794080 W42604 CA867705 BF680243 BE873735 AA101116 AI750074 BE729401 BG027551 CB990976 CB986032 BG771654 BE044936 BG397729 BM770984 BE747390 BM758413 BM738685 AJ572206 AI608749 BI752414 AA334247 BG036516 BF663568 BG113413 BM825036 BG547400 BU508809 BM754747 BU941957 BU655916 CB135857 BM469775 BM761128 CB305962 AA360248 BE904866 BG563173 CD384909 BE882274 BF670759 BM838051 BI468196 BM549447 BX444623 BU942782 AK130886 CD104643 CD050202 BG616740 AA649975 F32879 BG423342 BQ230427 BG501575 N78638 BF033416 AI342421 BG770239 CA868472 BF979558 AI936972 BG750611 AJ346332 BX324482 F36909 CF130579 AV745458 BP369862 AI302083 BG341878 BM751890 CB108324 AA339292 AA188297 BU657225 BM841748 BQ337743 BU589696 CA411878 BU660583 BM832175 BX324481 CB108934 AL523595 BM504459 BM696948 BQ436065 BU659430 BG530596 BM476270 BE256566 BM450448 CD520814 BG503232 BM745717 AW406425 BF758569 AV714584 BE514925 BU600022 BC008188 BG715880 AL556806 BM797575 AI479785 BM754733 BG027271 BE409907 BU596513 BM978273 BG610692 CB997439 BM453371 BM760787 BX400386 AI205219 AA927139 AA969401 BU660943 BE408488 CB112661 BG121158 BF979202 CR619796 BU603047 AA969322 BI092098 BM759978 C05602 BF968416 BM043362 BM721574 CA413329 BE280484 BG527698 AA305373 BU660800 BU656177 BM740234 C03009 BQ648712 CF128206 BM973909 BF792275 BM313054 W16665 AI089754 BI770788 AI147833 BG336215 BU849447 Z45982 BG618364 BG424977 BM767095 W68839 BI457686 BG757388 BE253104 BM840613 BG207529 BU933082 AL597220 AA569496 AA716183 BI549393 AA129779 BU664329 BI085865 BE896092 CA453781 BM991452 AV736486 AA148486 T30413 CB994921 BF959953 D80951 AI349300 AV685152 AA055454 BM990268 BG567095 BF003013 BQ694844 BI457646 D79762 BG500728 BU683903 CD623973 AA574416 BI257537 BF304756 T30680 BP428853 BG480113 BM840620 F07139 D53132 BG182169 AA055453 CD707231 AI190063 BG393962 BM748951 AW651676 AA219044 BU165447 BG716033 BG496051 BF244004 BQ953086 C03334 BU656249 BG219128 AI498521 AI243399 BF681354 BU659448 BG109435 BF978875 N81066 BF678748 BQ953241 BF184620 CB958261 AA310134 AI767860 CA437228 BI194256 BG564854 W69749 CB130655 AA502953 T35410 AI830287 BP430704 BG622377 BF697565 AW955128 CB995456 BG108953 BG941195 N56354 BE958231 BG401990 W46765 BF681557 AW021299 D61761 AA587727 BM747356 CD703086 BG505547 AV711323 BQ376649 CD698540 BM476996 BU657451 BU658230 D80458 CA777472 BE562354 AI247773 D61064 CD110216 CF527958 BG200274 AA329174 BI602006 BE567765 BG202862 N77240 AV745502 BG179920 CB321705 BM743588 BE782528 AI052100 BF305543 BF796819 AL597221 CD703195 BM691397 AW673137 H41623 BM833215 AI031586 AV759648 CD707706 CB956553 BU661538 AV763748 AV716113 BF382373 AV745904 AV701247 BU074761 AW607029 AV701087 AI034421 AI034314 CD298828 BI468195 BG029568 CD692502 CB107597 AV753003 CD689853 BM797379 D79337 AV744394 BF700328 BG498240 D52382 F32888 BQ934466 BG256228 AA228859 F30887 CD691001 BE928219 CD706643 AL558173 CK001102 CD701374 AI983345 AV695518 AV745893 BF126090 AW806383 AI034225 BG230501 BX351075 AA733210 BF476745 CD641373 AW380211 BG484602 AW380197 AA216242 AA228370 BF216838 BE928232 BG200275 BU074477 BF242793 BP349001 F27456 W42607 T61908 BM465181 AV745522 BF094973 CD696942 AV746418 AV691510 CB991322 T29930 BM739882 AJ346410 AV722182 D53083 BE827551 BE622939 BF675687 AU099598 BF907444 BF341610 AJ574003 AA481957 BE961136 AW206383 CA777735 BG757311 BF798908 R51981 H42326 D53402 BM045884 AA376344 AA251440 CD520724 C04479 BE440017 CD623974 D81267 BQ347810 BE833667 AW793435 BG422859 T35662 AV745614 D61300 BF571111 BE047815 BG213865 BX106037 W31890 BF170373 AV736392 BU566510 W07496 T35587 BU595868 BU589551 BI860373 BE177604 AV757884 D81438 BF907442 CD106479 C17909 AV753888 BE870483 H24532 BF758566 CA842038 BM503757 BM476682 CD110428 AA219196 D81357 BU953513 BU944919 BU600587 AV701341 BM987677 BG471144 AA308838 BG112406 AI189013 BG202303 BG210698 BM787501 CD702892 BE568546 AW904199 AI149327 BF837367 AV753975 BQ377065 BG219621 BF086088 BQ230393 BM509906 BM907005 BE258993 BF336957 H38029 AW806434 AW800369 CD522098 AL582600 BF094970 BQ435677 BF675780 AV722608 AV700974 AA186809 D58737 AA019415 AW170613 BF841538 CD521754 CB961441 AV692049 AA947522 W69856 BF965368 BF907427 D60929 BF693327 AI707820 BU179010 BF306402 BF907424 AV707572 CD247024 BM754224 BI827423 D81330 AW806398 BF175519 BF907437 H42923 BQ317990 BX394683 BE970959 BF745980 BF094947 AW810585 BQ428860 BE767842 BF907431 AW967133 BE826121 CD251159 BQ307988 BG026601 AI206790 AA092956 BE899270 BF751458 R11782 BU596849 BQ312553 AW674240 BU168051 BF335901 BG185293 CA841746 GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for PARK7 (see all 8) About this scheme
| 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: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for PARK7
|
Expression for PARK7 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PARK7 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: AAATAGGTTT
About this image See PARK7 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for PARK7
SOURCE GeneReport for Unigene cluster: Hs.419640 UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497Tissue specificity: Highly expressed in pancreas, kidney, skeletal muscle, liver, testis and heart. Detected atslightly lower levels in placenta and brain. Detected in astrocytes, Sertoli cells, spermatogonia, spermatids andspermatozoa SABiosciences Expression via Pathway-Focused PCR Arrays including PARK7:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PARK7 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PARK7 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PARK7 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PARK7 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PARK7 |
Orthologs for PARK7 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for PARK7 gene from 10/30 species (see all 30) About this table
ENSEMBL Gene Tree for PARK7 (if available) TreeFam Gene Tree for PARK7 (if available)  |
Paralogs for PARK7 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for PARK7 gene
PARK7 for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for PARK7 PGOHUM00000239770 PGOHUM00000236716
|
Genomic Variants for PARK7 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 1 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for PARK7 (8014351 - 8045565 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for PARK7: -- Human Gene Mutation Database (HGMD): PARK7
Locus Specific Mutation Databases (LSDB): PARK7
 | 1 SABiosciences Cancer Mutation PCR Assay for PARK7: |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PARK7 |
|
Disorders
/ Diseases for PARK7 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PARK7 for disorders About GeneDecksing
OMIM gene information: 602533 OMIM disorders: 606324 UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497
Defects in PARK7 are the cause of Parkinson disease type 7 (PARK7) [MIM:606324]. A neurodegenerative disordercharacterized 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 traitsreminiscent of amyotrophic lateral sclerosis-parkinsonism/dementia complex (Guam disease) 20/65 diseases for PARK7 (see all 65): About MalaCardsparkinson's disease parkinson disease 7, autosomal recessive early-onset amyotrophic lateral sclerosis-parkinsonism/dementia complex 2 spinocerebellar ataxia type 17 inclusion body myositis supranuclear palsy amyotrophic lateral sclerosis clear cell renal cell carcinoma spinocerebellar ataxia lateral sclerosis parkinson disease 10 squamous cell carcinoma chronic obstructive pulmonary disease laryngeal squamous cell carcinoma short stature multiple system atrophy tauopathy esophageal squamous cell carcinoma renal cell carcinoma pancreatic ductal adenocarcinoma
1 disease from the University of Copenhagen DISEASES database for PARK7:Parkinson's disease 10/20 Novoseek disease relationships for PARK7 gene (see all 20) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| parkinson disease |
89.2 |
181 |
20157014 (6), 14662519 (5), 15219840 (4), 14707326 (3) (see all 99) |
| autosomal recessive parkinsonism |
87.5 |
12 |
14638971 (3), 19429112 (2), 17914725 (1), 19297401 (1) (see all 7) |
| parkinsonism |
85.4 |
87 |
19429112 (5), 15565491 (2), 19124468 (2), 15542239 (2) (see all 47) |
| parkinsonism juvenile autosomal recessive |
81 |
10 |
14652021 (1), 14745011 (1), 17268184 (1), 19243613 (1) (see all 8) |
| parkinson disease, autosomal dominant |
76.4 |
2 |
15717024 (1) |
| neurodegenerative diseases |
74.9 |
18 |
19686841 (2), 14705119 (2), 17719794 (2), 18930142 (1) (see all 12) |
| neurodegeneration |
65.1 |
11 |
14712351 (2), 19023331 (1), 16115732 (1), 16439141 (1) (see all 9) |
| movement disorders |
64 |
1 |
18704525 (1) |
| tauopathies |
57.9 |
8 |
14991385 (2), 15935068 (1), 17085780 (1), 14705119 (1) |
| lewy body disease |
38.6 |
1 |
14625045 (1) |
GeneTests: PARK7 Parkinson Disease Genetic Association Database (GAD): PARK7 Human Genome Epidemiology (HuGE) Navigator: PARK7 (24 documents) Export disorders for PARK7 gene to outside databases
|
Publications for PARK7 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for PARK7 gene, integrated from 9 sources (see all 388): (articles sorted by number of sources associating them with PARK7) | |  | Utopia: connect your pdf to the dynamic world of online information |
- DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. (PubMed id 14872018)1, 2, 4, 9 Hedrich K.... Klein C. (2004)
- DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in cooperation with ras. (PubMed id 9070310)1, 2, 3, 9 Nagakubo D.... Ariga H. (1997)
- Mitochondrial localization of DJ-1 leads to enhanced neuroprotection. (PubMed id 18711745)1, 2, 9 Junn E....Mouradian M.M. (2009)
- The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. (PubMed id 14662519)1, 2, 9 Bandopadhyay R.... Lees A.J. (2004)
- DJ-1 interacts with HIPK1 and affects H2O2-induced cell death. (PubMed id 16390825)1, 2, 9 Sekito A....Ariga H. (2006)
- The 1.1-A resolution crystal structure of DJ-1, the protein mutated in autosomal recessive early onset Parkinson's disease. (PubMed id 12855764)1, 2, 9 Wilson M.A.... Petsko G.A. (2003)
- A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo- oligomerization. (PubMed id 14713311)1, 2, 9 Moore D.J.... Dawson V.L. (2003)
- Crystal structure of DJ-1/RS and implication on familial Parkinson's disease. (PubMed id 12914946)1, 2, 9 Huai Q.... Ke H. (2003)
- Molecular cloning of human and mouse DJ-1 genes and identification of Sp1-dependent activation of the human DJ-1 promoter. (PubMed id 11223268)1, 2, 9 Taira T.... Ariga H. (2001)
- The role of pathogenic DJ-1 mutations in Parkinson's disease. (PubMed id 12953260)1, 2, 9 Abou-Sleiman P.M.... Wood N.W. (2003)
|
External Searches for PARK7 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing PARK7 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PARK7 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PARK7 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for PARK7 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for PARK7 | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PARK7 | | SHMPD | http://shmpd.bii.a-star.edu.sg/gene.php?genestart=P&genename=PARK7+%40+DJ-1 |
|
| | |
About This Section
| Patent Information for PARK7 gene: Search GeneIP for patents involving PARK7
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for PARK7 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
| | | | OriGene Antibodies for PARK7 | | OriGene shRNA RFP for PARK7 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PARK7 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PARK7 | | OriGene Protein Over-expression Lysate for PARK7 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for PARK7 | | OriGene 3'-UTR Clone for PARK7 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PARK7 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PARK7 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | OriGene Purified Protein for PARK7 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| |
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