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The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]
PRKN (Parkin RBR E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with PRKN include Parkinson Disease 2, Autosomal Recessive Juvenile and Ovarian Cancer. Among its related pathways are Neuroscience and Metabolism of proteins. An important paralog of this gene is ANKIB1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH06J162726 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | 0.0 | -13 | 2.4 | CREB1 GATAD2A HNRNPL ATF7 PRDM10 ZNF629 TFE3 RFX1 SIX5 ZNF692 | PACRG PRKN piR-57133-533 QKI | |
GH06J162705 | Enhancer | 0.5 | ENCODE | 12.1 | +21.4 | 21438 | 1.2 | ZIC2 POLR2A YY1 NR2F2 SPI1 | PACRG PRKN RF00017-5932 piR-58929-099 | |
GH06J162363 | Enhancer | 1 | Ensembl ENCODE | 4.5 | +363.4 | 363413 | 1.2 | LEF1 ZNF24 ZNF740 EP300 MGA CBX3 ZNF766 E2F5 NR2C2 ZBTB11 | PACRG PRKN RF00994-972 piR-41399-422 | |
GH06J162442 | Enhancer | 0.6 | Ensembl ENCODE | 5.5 | +285.1 | 285101 | 1.8 | CTCF TEAD4 RAD21 RFX1 SMC3 ZNF654 | PRKN LOC105369171 KRT8P44 PACRG | |
GH06J162409 | Enhancer | 0.7 | Ensembl ENCODE CraniofacialAtlas | 4.9 | +317.9 | 317901 | 5 | KDM1A GATA2 | PRKN PACRG LOC105369171 RF00994-972 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 23985028 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 23985028 |
GO:0001664 | G protein-coupled receptor binding | IPI | 12150907 |
GO:0003779 | actin binding | IPI | 21753002 |
GO:0004842 | ubiquitin-protein transferase activity | IEA,TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000151 | ubiquitin ligase complex | IDA | 12150907 |
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IDA | 23985028 |
GO:0005737 | cytoplasm | IBA,IDA | 17512523 |
GO:0005739 | colocalizes_with mitochondrion | IEA,IMP | 21508222 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Metabolism of proteins | ||
3 | Mitophagy |
1.00
|
|
4 | Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway |
Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
.97
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|
5 | Neuroscience |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP | 23985028 |
GO:0000209 | protein polyubiquitination | IBA,IDA | 12150907 |
GO:0000266 | mitochondrial fission | ISS | -- |
GO:0000422 | autophagy of mitochondrion | IMP | 19029340 |
GO:0000423 | mitophagy | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PARK2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PARK2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PARK2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PARK2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Park2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Park2 30 31 31 |
|
OneToMany | |
Prkn 17 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | PARK2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PARK2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PARK2 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | park2 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006580 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | park 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | pdr-1 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639788 | Uncertain Significance: not provided | 161,549,000(-) | T/C | MISSENSE_VARIANT | |
644125 | Pathogenic: not provided | 162,443,356(-) | C/G | MISSENSE_VARIANT | |
645725 | Pathogenic: Parkinson disease 2; not provided | 161,785,885(-) | C/T | MISSENSE_VARIANT | |
648034 | Uncertain Significance: Parkinson disease 2 | 162,262,637(-) | C/G | MISSENSE_VARIANT,INTRON_VARIANT | |
649511 | Uncertain Significance: Parkinson disease 2 | 161,785,844(-) | A/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
parkinson disease 2, autosomal recessive juvenile |
|
|
ovarian cancer |
|
|
leprosy 2 |
|
|
lung cancer |
|
|
parkinson disease, late-onset |
|