ENSG00000185345


Homo sapiens

Features
Gene ID: ENSG00000185345
  
Biological name :PRKN
  
Synonyms : O60260 / parkin RBR E3 ubiquitin protein ligase / PRKN
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: q26
Gene start: 161347420
Gene end: 162727771
  
Corresponding Affymetrix probe sets: 1554855_at (Human Genome U133 Plus 2.0 Array)   1555668_a_at (Human Genome U133 Plus 2.0 Array)   207058_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000355863
Ensembl peptide - ENSP00000484112
Ensembl peptide - ENSP00000483773
Ensembl peptide - ENSP00000480716
Ensembl peptide - ENSP00000478353
Ensembl peptide - ENSP00000434414
Ensembl peptide - ENSP00000355865
Ensembl peptide - ENSP00000343589
Ensembl peptide - ENSP00000355858
Ensembl peptide - ENSP00000355860
Ensembl peptide - ENSP00000355862
NCBI entrez gene - 5071     See in Manteia.
OMIM - 602544
RefSeq - XM_017010909
RefSeq - NM_004562
RefSeq - NM_013987
RefSeq - NM_013988
RefSeq - XM_011535863
RefSeq - XM_017010908
RefSeq Peptide - NP_054643
RefSeq Peptide - NP_004553
RefSeq Peptide - NP_054642
swissprot - A0A087WX46
swissprot - A0A087WU39
swissprot - A0A087X1E2
swissprot - X5DR79
swissprot - O60260
swissprot - B1AKC3
swissprot - A0A087X0Z9
Ensembl - ENSG00000185345
  
Related genetic diseases (OMIM): 167000 - Adenocarcinoma, ovarian, somatic, 167000
  211980 - Adenocarcinoma of lung, somatic, 211980
  600116 - Parkinson disease, juvenile, type 2, 600116
  607572 - {Leprosy, susceptibility to}, 607572
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 prknENSDARG00000021555Danio rerio
 PRKNENSGALG00000011562Gallus gallus
 Park2ENSMUSG00000023826Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000626  Ubiquitin domain
 IPR002867  IBR domain
 IPR003977  E3 ubiquitin-protein ligase parkin
 IPR029071  Ubiquitin-like domain superfamily
 IPR031127  E3 ubiquitin ligase RBR family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0000209 protein polyubiquitination IDA
 biological_processGO:0000266 mitochondrial fission ISS
 biological_processGO:0000422 autophagy of mitochondrion IMP
 biological_processGO:0000423 mitophagy IEA
 biological_processGO:0001933 negative regulation of protein phosphorylation IDA
 biological_processGO:0001963 synaptic transmission, dopaminergic IEA
 biological_processGO:0001964 startle response IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process TAS
 biological_processGO:0006513 protein monoubiquitination IMP
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0006979 response to oxidative stress ISS
 biological_processGO:0007005 mitochondrion organization ISS
 biological_processGO:0007417 central nervous system development TAS
 biological_processGO:0007612 learning IEA
 biological_processGO:0007626 locomotory behavior IEA
 biological_processGO:0008344 adult locomotory behavior ISS
 biological_processGO:0010498 proteasomal protein catabolic process IMP
 biological_processGO:0010506 regulation of autophagy IDA
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0010629 negative regulation of gene expression IMP
 biological_processGO:0010636 positive regulation of mitochondrial fusion IMP
 biological_processGO:0010637 negative regulation of mitochondrial fusion ISS
 biological_processGO:0010821 regulation of mitochondrion organization NAS
 biological_processGO:0010906 regulation of glucose metabolic process TAS
 biological_processGO:0010994 free ubiquitin chain polymerization IMP
 biological_processGO:0014059 regulation of dopamine secretion TAS
 biological_processGO:0016236 macroautophagy TAS
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0019538 protein metabolic process IEA
 biological_processGO:0030433 ubiquitin-dependent ERAD pathway IEA
 biological_processGO:0031396 regulation of protein ubiquitination IMP
 biological_processGO:0031647 regulation of protein stability IMP
 biological_processGO:0031648 protein destabilization IDA
 biological_processGO:0032092 positive regulation of protein binding IMP
 biological_processGO:0032232 negative regulation of actin filament bundle assembly IDA
 biological_processGO:0032368 regulation of lipid transport TAS
 biological_processGO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process TAS
 biological_processGO:0033132 negative regulation of glucokinase activity IDA
 biological_processGO:0034620 cellular response to unfolded protein TAS
 biological_processGO:0034976 response to endoplasmic reticulum stress IMP
 biological_processGO:0035249 synaptic transmission, glutamatergic IEA
 biological_processGO:0035519 protein K29-linked ubiquitination TAS
 biological_processGO:0036503 ERAD pathway NAS
 biological_processGO:0042053 regulation of dopamine metabolic process IMP
 biological_processGO:0042415 norepinephrine metabolic process IEA
 biological_processGO:0042417 dopamine metabolic process TAS
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IMP
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IDA
 biological_processGO:0043388 positive regulation of DNA binding IDA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IDA
 biological_processGO:0044257 cellular protein catabolic process IMP
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0044314 protein K27-linked ubiquitination TAS
 biological_processGO:0044828 negative regulation by host of viral genome replication IDA
 biological_processGO:0045732 positive regulation of protein catabolic process TAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0046329 negative regulation of JNK cascade ISS
 biological_processGO:0046676 negative regulation of insulin secretion IDA
 biological_processGO:0046928 regulation of neurotransmitter secretion IEA
 biological_processGO:0050804 modulation of chemical synaptic transmission IEA
 biological_processGO:0050821 protein stabilization IMP
 biological_processGO:0051582 positive regulation of neurotransmitter uptake IMP
 biological_processGO:0051583 dopamine uptake involved in synaptic transmission IEA
 biological_processGO:0051865 protein autoubiquitination IDA
 biological_processGO:0051881 regulation of mitochondrial membrane potential IEA
 biological_processGO:0055069 zinc ion homeostasis ISS
 biological_processGO:0060548 negative regulation of cell death IDA
 biological_processGO:0060828 regulation of canonical Wnt signaling pathway TAS
 biological_processGO:0061734 parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization IDA
 biological_processGO:0070050 neuron cellular homeostasis ISS
 biological_processGO:0070534 protein K63-linked ubiquitination TAS
 biological_processGO:0070585 protein localization to mitochondrion IEA
 biological_processGO:0070842 aggresome assembly IMP
 biological_processGO:0070936 protein K48-linked ubiquitination IDA
 biological_processGO:0070979 protein K11-linked ubiquitination IDA
 biological_processGO:0071287 cellular response to manganese ion TAS
 biological_processGO:0085020 protein K6-linked ubiquitination TAS
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway TAS
 biological_processGO:0090141 positive regulation of mitochondrial fission ISS
 biological_processGO:0090201 negative regulation of release of cytochrome c from mitochondria IDA
 biological_processGO:0097237 cellular response to toxic substance IMP
 biological_processGO:0098779 positive regulation of mitophagy in response to mitochondrial depolarization IMP
 biological_processGO:0099074 mitochondrion to lysosome transport IDA
 biological_processGO:1900407 regulation of cellular response to oxidative stress ISS
 biological_processGO:1901215 negative regulation of neuron death IGI
 biological_processGO:1901800 positive regulation of proteasomal protein catabolic process IGI
 biological_processGO:1902236 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IMP
 biological_processGO:1902254 negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator IMP
 biological_processGO:1902283 negative regulation of primary amine oxidase activity IMP
 biological_processGO:1902530 positive regulation of protein linear polyubiquitination IGI
 biological_processGO:1902803 regulation of synaptic vesicle transport NAS
 biological_processGO:1903202 negative regulation of oxidative stress-induced cell death TAS
 biological_processGO:1903214 regulation of protein targeting to mitochondrion NAS
 biological_processGO:1903265 positive regulation of tumor necrosis factor-mediated signaling pathway IDA
 biological_processGO:1903351 cellular response to dopamine TAS
 biological_processGO:1903377 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway IDA
 biological_processGO:1903382 negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway IEA
 biological_processGO:1903542 negative regulation of exosomal secretion IMP
 biological_processGO:1903599 positive regulation of autophagy of mitochondrion IDA
 biological_processGO:1903861 positive regulation of dendrite extension IEA
 biological_processGO:1904049 negative regulation of spontaneous neurotransmitter secretion IMP
 biological_processGO:1905281 positive regulation of retrograde transport, endosome to Golgi NAS
 biological_processGO:1905366 negative regulation of intralumenal vesicle formation IMP
 biological_processGO:1905477 positive regulation of protein localization to membrane IMP
 biological_processGO:2000377 regulation of reactive oxygen species metabolic process IMP
 biological_processGO:2000378 negative regulation of reactive oxygen species metabolic process IGI
 cellular_componentGO:0000151 ubiquitin ligase complex IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0016235 aggresome IDA
 cellular_componentGO:0016607 nuclear speck IDA
 cellular_componentGO:0043005 neuron projection IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0071797 LUBAC complex IPI
 cellular_componentGO:0097413 Lewy body TAS
 cellular_componentGO:0098793 presynapse IEA
 cellular_componentGO:0099073 mitochondrion-derived vesicle IDA
 cellular_componentGO:1990452 Parkin-FBXW7-Cul1 ubiquitin ligase complex IPI
 molecular_functionGO:0000976 transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0001664 G-protein coupled receptor binding IPI
 molecular_functionGO:0003700 DNA-binding transcription factor activity IC
 molecular_functionGO:0003779 actin binding IPI
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008013 beta-catenin binding IDA
 molecular_functionGO:0008270 zinc ion binding TAS
 molecular_functionGO:0015631 tubulin binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0017124 SH3 domain binding TAS
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019900 kinase binding IPI
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0030165 PDZ domain binding IPI
 molecular_functionGO:0030544 Hsp70 protein binding IPI
 molecular_functionGO:0031072 heat shock protein binding IPI
 molecular_functionGO:0031624 ubiquitin conjugating enzyme binding IPI
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042826 histone deacetylase binding IPI
 molecular_functionGO:0043130 ubiquitin binding IDA
 molecular_functionGO:0043274 phospholipase binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051087 chaperone binding IPI
 molecular_functionGO:0061630 ubiquitin protein ligase activity NAS
 molecular_functionGO:0097602 cullin family protein binding IDA
 molecular_functionGO:1990381 ubiquitin-specific protease binding IPI
 molecular_functionGO:1990444 F-box domain binding IPI


Pathways (from Reactome)
Pathway description
Pink/Parkin Mediated Mitophagy
Josephin domain DUBs
Amyloid fiber formation
Antigen processing: Ubiquitination & Proteasome degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0001300 Parkinsonism 
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0001939 Metabolism abnormality 
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 HP:0002063 Rigidity 
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 HP:0002067 Bradykinesia "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators]
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 HP:0002172 Postural instability 
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 HP:0003002 Breast cancer 
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 HP:0003581 Onset in adulthood 
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 HP:0006519 Alveolar cell carcinoma 
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 HP:0006774 Ovarian papillary adenocarcinoma 
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 HP:0011960 Substantia nigra gliosis "The presence of `gliosis` (MPATH:182) in the `substantia nigra` (FMA:67947)." [HPO:probinson]
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 HP:0100621 Dysgerminoma "The presence of a `dysgerminoma` (MPATH:312), i.e., an undifferentiated germ cell tumor of the `ovary` (FMA:7209)." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000064692 Q9Y6H5 / SNCAIP / synuclein alpha interacting protein  / reaction / complex
 ENSG00000066427 ATXN3 / P54252 / ataxin 3  / complex / reaction
 ENSG00000158828 PINK1 / Q9BXM7 / PTEN induced putative kinase 1  / complex / reaction






 

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