PRKN - parkin RBR E3 ubiquitin protein ligase Gene
Also Known as PDJ; AR-JP; LPRS2; PARK2
Species: Homo sapiens
About PRKN
This gene has 23 transcripts (splice variants), 224 orthologues, 9 paralogues and is associated with 4 phenotypes. Broad expression in heart (RPKM 3.6), kidney (RPKM 3.5) and 21 other tissues.
Summary
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 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_004562.3 | NP_004553.2 | E3 ubiquitin-protein ligase parkin isoform 1 |
| NM_013987.3 | NP_054642.2 | E3 ubiquitin-protein ligase parkin isoform 2 |
| NM_013988.3 | NP_054643.2 | E3 ubiquitin-protein ligase parkin isoform 3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables F-box domain binding |
IPI
IPI: Inferred from physical interaction
|
12628165 | GOA |
| enables G protein-coupled receptor binding |
IPI
IPI: Inferred from physical interaction
|
12150907 | GOA |
| enables Hsp70 protein binding |
IPI
IPI: Inferred from physical interaction
|
12150907 | GOA |
| enables PDZ domain binding |
IPI
IPI: Inferred from physical interaction
|
17512523 | GOA |
| enables actin binding |
IPI
IPI: Inferred from physical interaction
|
21753002 | GOA |
| enables beta-catenin binding |
IDA
IDA: Inferred from direct assay
|
19591802 | GOA |
| enables cullin family protein binding |
IDA
IDA: Inferred from direct assay
|
12628165 | GOA |
| enables enzyme binding |
IPI
IPI: Inferred from physical interaction
|
19725078 | GOA |
| enables heat shock protein binding |
IPI
IPI: Inferred from physical interaction
|
12150907 | GOA |
| enables histone deacetylase binding |
IPI
IPI: Inferred from physical interaction
|
21753002 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
21694720 | GOA |
| enables kinase binding |
IPI
IPI: Inferred from physical interaction
|
17512523 | GOA |
| enables phospholipase binding |
IPI
IPI: Inferred from physical interaction
|
19725078 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10888878 | GOA |
| enables protein kinase binding |
IPI
IPI: Inferred from physical interaction
|
20798600 | GOA |
| enables protein-containing complex binding |
IPI
IPI: Inferred from physical interaction
|
23453807 | GOA |
| enables protein-folding chaperone binding |
IPI
IPI: Inferred from physical interaction
|
15603737 | GOA |
| enables transcription corepressor activity |
IDA
IDA: Inferred from direct assay
|
23985028 | GOA |
| enables tubulin binding |
IPI
IPI: Inferred from physical interaction
|
21753002 | GOA |
| enables ubiquitin binding |
IDA
IDA: Inferred from direct assay
|
24784582 | GOA |
| enables ubiquitin conjugating enzyme binding |
IDA
IDA: Inferred from direct assay
|
10973942 | GOA |
| enables ubiquitin conjugating enzyme binding |
IPI
IPI: Inferred from physical interaction
|
11439185 | GOA |
| enables ubiquitin protein ligase activity |
IDA
IDA: Inferred from direct assay
|
10973942 | GOA |
| enables ubiquitin protein ligase activity |
IMP
IMP: Inferred from mutant phenotype
|
32047033 | GOA |
| enables ubiquitin protein ligase binding |
IMP
IMP: Inferred from mutant phenotype
|
24751536 | GOA |
| enables ubiquitin protein ligase binding |
IPI
IPI: Inferred from physical interaction
|
12150907 | GOA |
| enables ubiquitin-protein transferase activity |
EXP
EXP: Inferred from Experiment
|
31358971 | GOA |
| enables ubiquitin-protein transferase activity |
IDA
IDA: Inferred from direct assay
|
11078524 | GOA |
| enables ubiquitin-specific protease binding |
IPI
IPI: Inferred from physical interaction
|
24063750 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
17097639 | GOA |
| part of Parkin-FBXW7-Cul1 ubiquitin ligase complex |
IPI
IPI: Inferred from physical interaction
|
12628165 | GOA |
| NOT part of SCF ubiquitin ligase complex |
IDA
IDA: Inferred from direct assay
|
12628165 | GOA |
| located in aggresome |
IDA
IDA: Inferred from direct assay
|
14645198 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
17512523 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
19029340 | GOA |
| located in cytosol |
IMP
IMP: Inferred from mutant phenotype
|
21508222 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
12150907 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
18957282 | GOA |
| colocalizes with mitochondrion |
IMP
IMP: Inferred from mutant phenotype
|
21508222 | GOA |
| located in mitochondrion |
IMP
IMP: Inferred from mutant phenotype
|
19029340 | GOA |
| colocalizes with mitochondrion-derived vesicle |
IDA
IDA: Inferred from direct assay
|
24446486 | GOA |
| located in neuron projection |
IDA
IDA: Inferred from direct assay
|
12925569 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
23985028 | GOA |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
17097639 | GOA |
| part of ubiquitin ligase complex |
IDA
IDA: Inferred from direct assay
|
12150907 | GOA |
PRKN Protein Structure
ubiquitin: Ubiquitin family (12 - 73)
IBR: IBR domain, a half RING-finger domain (328 - 376)
IBR: IBR domain, a half RING-finger domain (411 - 455)
- 0
- 100
- 200
- 300
- 400
- 465 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
E3 ubiquitin-protein ligase parkin |
|
PRKN Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PRKN | O60260 | FBXO7 | Homo sapiens | Q9Y3I1 | 23933751 | |
|
Intra
|
PRKN | O60260 | FBXO7 | Homo sapiens | Q9Y3I1 | 23933751 | |
|
Intra
|
PRKN | O60260 | FBXO7 | Homo sapiens | Q9Y3I1 | 23933751 | |
|
Intra
|
PRKN | O60260 | RHOT1 | Homo sapiens | Q8IXI2 | 22078885 | |
|
Intra
|
PRKN | O60260 | PINK1 | Homo sapiens | Q9BXM7 | 24357652 | |
|
Intra
|
PRKN | O60260 | PINK1 | Homo sapiens | Q9BXM7 | 24357652 | |
|
Intra
|
PRKN | O60260 | PINK1 | Homo sapiens | Q9BXM7 | 23933751 | |
|
Intra
|
PRKN | O60260 | HDAC6 | Homo sapiens | Q9UBN7 | 19036992 | |
|
Intra
|
PRKN | O60260 | HDAC6 | Homo sapiens | Q9UBN7 | 19036992 | |
|
Intra
|
PRKN | O60260 | HDAC6 | Homo sapiens | Q9UBN7 | 19036992 | |
|
Intra
|
PRKN | O60260 | HSP90AB1 | Homo sapiens | P08238 | 25959826 | |
|
Intra
|
PRKN | O60260 | TRIP13 | Homo sapiens | Q15645 | 16189514 | |
|
Intra
|
PRKN | O60260 | TRIP13 | Homo sapiens | Q15645 | 24722188 | |
|
Intra
|
PRKN | O60260 | PDCD2 | Homo sapiens | Q16342 | 19146857 | |
|
Intra
|
PRKN | O60260 | ZNF746 | Homo sapiens | Q6NUN9 | 21376232 | |
|
Cross
|
PRKN | O60260 | Ywhah | Mus musculus | P68510 | 16096643 | |
|
Cross
|
PRKN | O60260 | Ywhah | Mus musculus | P68510 | 16096643 | |
|
Intra
|
PRKN | O60260 | LRRK2 | Homo sapiens | Q5S007 | 16352719 | |
|
Cross
|
PRKN | O60260 | Septin5 | Mus musculus | Q9Z2Q6 | 11078524 | |
|
Cross
|
PRKN | O60260 | Septin5 | Mus musculus | Q9Z2Q6 | 11078524 | |
|
Intra
|
PRKN | O60260 | CHPF | Homo sapiens | Q8IZ52-2 | 22082830 | |
|
Intra
|
PRKN | O60260 | FBXO7 | Homo sapiens | Q9Y3I1-1 | 23933751 | |
|
Intra
|
PRKN | O60260 | ATXN3 | Homo sapiens | P54252-2 | 24063750 | |
|
Cross
|
PRKN | O60260 | Q99IB8-PRO_0000045592 | Hepatitis C virus | Q99IB8-PRO_0000045592 | 25244949 |
PRKN Antibodies
| Cat. No. | 상품명 | 신청 | Reactivity |
|---|---|---|---|
| HY-P80779 | Parkin Antibody | WB, IHC-P, ICC/IF, IP, FC | Human, Mouse, Rat |
| HY-P86206 | Parkin Antibody (YA5898) | WB, ICC/IF, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
|
| Leprosy 2 |
|
|
| Parkin Type Of Early-Onset Parkinson Disease |
|
|
| Ovarian Cancer |
|
|
| Lung Cancer |
|
|
| Lung Cancer Susceptibility 3 |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Paratyphoid Fever |
|
|
| Parkinsonism |
|
|
| Parkinson Disease 3, Autosomal Dominant |
|
|
| Early-Onset Parkinson'S Disease |
|
|
| Dementia |
|
|
| Autism |
|
|
| Movement Disease |
|
|
| Dementia, Lewy Body |
|
|
| Schizophrenia |
|
|
| Essential Tremor |
|
|
| Supranuclear Palsy, Progressive, 1 |
|
|
| Multiple System Atrophy 1 |
|
|
| Tremor |
|
|
| Juvenile-Onset Parkinson'S Disease |
|
|
| Angelman Syndrome |
|
|
| Myoclonic Epilepsy Of Lafora |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
|
| Machado-Joseph Disease |
|
|
| Dystonia |
|
|
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
|
| Restless Legs Syndrome |
|
|
| Postencephalitic Parkinson Disease |
|
|
| Motor Neuron Disease |
|
|
| Focal Dystonia |
|
|
| Dystonia 12 |
|
|
| Vascular Parkinsonism |
|
|
| Parkinson Disease 21 |
|
|
| Kufor-Rakeb Syndrome |
|
|
| Meier-Gorlin Syndrome 3 |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Polyneuropathy |
|
|
| Rem Sleep Behavior Disorder |
|
|
| Leprosy 3 |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Gaucher Disease, Type I |
|
|
| Alzheimer Disease 3 |
|
|
| Rett Syndrome |
|
|
| Autism Spectrum Disorder |
|
|
| Toxic Encephalopathy |
|
|
| Gaucher'S Disease |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Sphingolipidosis |
|
|
| Frontotemporal Dementia |
|
|
| Meier-Gorlin Syndrome 2 |
|
|
| Epilepsy, Idiopathic Generalized 9 |
|
|
| Hereditary Ataxia |
|
|
| Neuroblastoma |
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
|
| Cerebellar Disease |
|
|
| Pick Disease Of Brain |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Choreatic Disease |
|
|
| Male Infertility |
|
|
| Neurodegeneration With Brain Iron Accumulation |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
|
| Bardet-Biedl Syndrome |
|
|
| Nervous System Disease |
|
|
| Myopathy |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Peripheral Nervous System Disease |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | PRKN | RGD | RGD:61797 |
| Bos taurus | PRKN | VGNC | VGNC:33342 |
| Macaca mulatta | PRKN | VGNC | VGNC:76364 |
| Mus musculus | PRKN | MGD | MGI:1355296 |
| Felis catus | PRKN | VGNC | VGNC:102495 |
| Canis familiaris | PRKN | VGNC | VGNC:82293 |
| Others | PRKN | NCBI |