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PRKN parkin RBR E3 ubiquitin protein ligase [ Homo sapiens (human) ]

Gene ID: 5071, updated on 28-Oct-2024

Summary

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Official Symbol: PRKNprovided by HGNC
Official Full Name: parkin RBR E3 ubiquitin protein ligaseprovided by HGNC
Primary source: HGNC:HGNC:8607
See related: Ensembl:ENSG00000185345 MIM:602544; AllianceGenome:HGNC:8607
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PDJ; AR-JP; LPRS2; PARK2
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]
Expression: Broad expression in heart (RPKM 3.6), kidney (RPKM 3.5) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

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See PRKN in Genome Data Viewer

Location:: 6q26

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (161347417..162727766, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (162705911..164090895, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (161768449..163148798, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Activation of parkin by a molecular glue.
Title: Activation of parkin by a molecular glue.
Naturally occurring hyperactive variants of human parkin.
Title: Naturally occurring hyperactive variants of human parkin.
Additional feedforward mechanism of Parkin activation via binding of phospho-UBL and RING0 in trans.
Title: Additional feedforward mechanism of Parkin activation via binding of phospho-UBL and RING0 in trans.
Deciphering the neuroprotective mechanisms of RACK1 in cerebral ischemia-reperfusion injury: Pioneering insights into mitochondrial autophagy and the PINK1/Parkin axis.
Title: Deciphering the neuroprotective mechanisms of RACK1 in cerebral ischemia-reperfusion injury: Pioneering insights into mitochondrial autophagy and the PINK1/Parkin axis.
PINK1/Park2-Mediated Mitophagy Relieve Non-Alcoholic Fatty Liver Disease.
Title: PINK1/Park2-Mediated Mitophagy Relieve Non-Alcoholic Fatty Liver Disease.
Interplay between alpha-synuclein and parkin genes: Insights of Parkinson's disease.
Title: Interplay between α-synuclein and parkin genes: Insights of Parkinson's disease.
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease.
Title: Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease.
MiR-181c-5p Regulates Lung Adenocarcinoma Progression via Targeting PRKN.
Title: MiR-181c-5p Regulates Lung Adenocarcinoma Progression via Targeting PRKN.
Association between copy number variations in parkin (PRKN) and schizophrenia and autism spectrum disorder: A case-control study.
Title: Association between copy number variations in parkin (PRKN) and schizophrenia and autism spectrum disorder: A case-control study.
Parkin inhibits proliferation and migration of bladder cancer via ubiquitinating Catalase.
Title: Parkin inhibits proliferation and migration of bladder cancer via ubiquitinating Catalase.

Submit: New GeneRIF Correction See all GeneRIFs (715)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive juvenile Parkinson disease 2 MedGen: C1868675 OMIM: 600116 GeneReviews: Parkinson Disease Overview, Parkin Type of Early-Onset Parkinson Disease	not available
Lung cancer MedGen: C0242379 OMIM: 211980 GeneReviews: Not available	not available
Ovarian neoplasm MedGen: C0919267 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of pancreatic cancer in Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Linkage and association of successful aging to the 6q25 region in large Amish kindreds. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-53410 (e-PCR)
- UniSTS:26376

G42363 (e-PCR)
- UniSTS:94222

D10S275 (e-PCR)
- UniSTS:147992

PMC156308P1 (e-PCR)
- UniSTS:271391

SHGC-8992 (e-PCR)
- UniSTS:28204

WI-11670 (e-PCR)
- UniSTS:60978

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-79163 (e-PCR)
- UniSTS:102712

SHGC-106786 (e-PCR)
- UniSTS:170042

D6S1599 (e-PCR), detects polymorphism
- UniSTS:76096

D6S1404 (e-PCR)
- UniSTS:49223

RH37445 (e-PCR)
- UniSTS:22605

RH37467 (e-PCR)
- UniSTS:49230

SHGC-147718 (e-PCR)
- UniSTS:175969

D6S305 (e-PCR)
- UniSTS:26980

G10328 (e-PCR)
- UniSTS:5479

SHGC-79722 (e-PCR)
- UniSTS:101225

SHGC-149848 (e-PCR)
- UniSTS:177259

D6S955 (e-PCR), detects polymorphism
- UniSTS:18030

SHGC-146858 (e-PCR)
- UniSTS:175476

D6S411 (e-PCR), detects polymorphism
- UniSTS:74357

D11S1289 (e-PCR)
- UniSTS:15221

D1S1425 (e-PCR)
- UniSTS:149621

D6S411 (e-PCR), detects polymorphism
- UniSTS:74358

FB8B6 (e-PCR)
- UniSTS:32385

AFMa155td9 (e-PCR)
- UniSTS:50313

D6S2153 (e-PCR)
- UniSTS:1169

D16S325 (e-PCR)
- UniSTS:147089

RH76397 (e-PCR)
- UniSTS:84628

RH123443 (e-PCR)
- UniSTS:135831

D6S253 (e-PCR)
- UniSTS:45465

RH123198 (e-PCR)
- UniSTS:135579

SHGC-152656 (e-PCR)
- UniSTS:177567

G17030 (e-PCR)
- UniSTS:46242

RH45460 (e-PCR)
- UniSTS:57250

G62556 (e-PCR)
- UniSTS:139683

SHGC-141992 (e-PCR)
- UniSTS:171180

D6S305 (e-PCR)
- UniSTS:24501

AFMb281wf1 (e-PCR)
- UniSTS:26805

SHGC-80808 (e-PCR)
- UniSTS:102327

SHGC-85252 (e-PCR)
- UniSTS:104377

D6S1550 (e-PCR)
- UniSTS:64198

RH119707 (e-PCR)
- UniSTS:133076

D6S253 (e-PCR)
- UniSTS:45804

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables F-box domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables G protein-coupled receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables Hsp70 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables PDZ domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables SH3 domain binding	TAS Traceable Author Statement more info	PubMed
enables actin binding	IPI Inferred from Physical Interaction more info	PubMed
enables beta-catenin binding	IDA Inferred from Direct Assay more info	PubMed
enables cullin family protein binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables heat shock protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables phospholipase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed
enables tubulin binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin conjugating enzyme binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin conjugating enzyme binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin conjugating enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ubiquitin protein ligase activity	NAS Non-traceable Author Statement more info	PubMed
enables ubiquitin protein ligase activity	TAS Traceable Author Statement more info
enables ubiquitin protein ligase binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-protein transferase activity	EXP Inferred from Experiment more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	TAS Traceable Author Statement more info
enables ubiquitin-specific protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in adult locomotory behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in aggresome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amyloid fibril formation	TAS Traceable Author Statement more info
involved_in autophagy of mitochondrion	IDA Inferred from Direct Assay more info	PubMed
involved_in autophagy of mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to dopamine	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to manganese ion	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to oxidative stress	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to toxic substance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to unfolded protein	TAS Traceable Author Statement more info	PubMed
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in dopamine metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in dopamine uptake involved in synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in free ubiquitin chain polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in learning	IEA Inferred from Electronic Annotation more info
involved_in macroautophagy	TAS Traceable Author Statement more info
involved_in mitochondrial fission	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrion organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrion to lysosome vesicle-mediated transport	IDA Inferred from Direct Assay more info	PubMed
involved_in mitophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation by host of viral genome replication	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of JNK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of actin filament bundle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of exosomal secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of glucokinase activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of insulin secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of intralumenal vesicle formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mitochondrial fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of primary amine oxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of reactive oxygen species metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of release of cytochrome c from mitochondria	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of spontaneous neurotransmitter secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron cellular homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in norepinephrine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of dendrite extension	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial fission	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mitochondrial fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neurotransmitter uptake	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of proteasomal protein catabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of protein linear polyubiquitination	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of protein localization to membrane	IC Inferred by Curator more info	PubMed
involved_in positive regulation of protein localization to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of retrograde transport, endosome to Golgi	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tumor necrosis factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type 2 mitophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type 2 mitophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K11-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K27-linked ubiquitination	TAS Traceable Author Statement more info	PubMed
involved_in protein K29-linked ubiquitination	TAS Traceable Author Statement more info	PubMed
involved_in protein K48-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K6-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K6-linked ubiquitination	TAS Traceable Author Statement more info	PubMed
involved_in protein K63-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K63-linked ubiquitination	NAS Non-traceable Author Statement more info	PubMed
involved_in protein K63-linked ubiquitination	TAS Traceable Author Statement more info	PubMed
involved_in protein autoubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein destabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein deubiquitination	TAS Traceable Author Statement more info
involved_in protein localization to mitochondrion	IEA Inferred from Electronic Annotation more info
involved_in protein monoubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein monoubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of canonical Wnt signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cellular response to oxidative stress	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cellular response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cellular response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cellular response to oxidative stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of dopamine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of dopamine secretion	TAS Traceable Author Statement more info	PubMed
involved_in regulation of glucose metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in regulation of lipid transport	TAS Traceable Author Statement more info	PubMed
involved_in regulation of mitochondrial membrane potential	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitochondrion organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitochondrion organization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitochondrion organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of mitochondrion organization	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of necroptotic process	TAS Traceable Author Statement more info
involved_in regulation of protein stability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein targeting to mitochondrion	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of protein ubiquitination	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of reactive oxygen species metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic vesicle endocytosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle transport	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation protein catabolic process at presynapse	IEA Inferred from Electronic Annotation more info
involved_in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to oxidative stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in startle response	IEA Inferred from Electronic Annotation more info
involved_in synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info
involved_in type 2 mitophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Lewy body	TAS Traceable Author Statement more info	PubMed
part_of Parkin-FBXW7-Cul1 ubiquitin ligase complex	IPI Inferred from Physical Interaction more info	PubMed
NOT part_of SCF ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in aggresome	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in dopaminergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
located_in mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
colocalizes_with mitochondrion-derived vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
part_of ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: E3 ubiquitin-protein ligase parkin

Names: Parkinson disease (autosomal recessive, juvenile) 2, parkin; parkinson juvenile disease protein 2; parkinson protein 2 E3 ubiquitin protein ligase; parkinson protein 2, E3 ubiquitin protein ligase (parkin)

NP_004553.2

EC 2.3.2.31

NP_054642.2

EC 2.3.2.31

NP_054643.2

EC 2.3.2.31

XP_011534165.1

EC 2.3.2.31

XP_016866397.1

EC 2.3.2.31

XP_024302217.1

EC 2.3.2.31

XP_054211507.1

EC 2.3.2.31

XP_054211508.1

EC 2.3.2.31

XP_054211509.1

EC 2.3.2.31

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008289.2 RefSeqGene

Range

5037..1385386

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004562.3 → NP_004553.2 E3 ubiquitin-protein ligase parkin isoform 1

See identical proteins and their annotated locations for NP_004553.2

Status: REVIEWED

Description

Transcript Variant: Transcript variant 1 represents the predominant and full-length form of this gene.

Source sequence(s)

AK292590, AL132982, DB023187

Consensus CDS

CCDS5281.1

UniProtKB/Swiss-Prot

A3FG77, A8K975, D3JZW7, D3K2X0, O60260, Q5TFV8, Q5VVX4, Q6Q2I6, Q8NI41, Q8NI43, Q8NI44, Q8WW07

UniProtKB/TrEMBL

X5DNX0, X5DR79

Related

ENSP00000355865.1, ENST00000366898.6

Conserved Domains (4) summary

cd01798
Location:3 → 72

parkin_N; amino-terminal ubiquitin-like of parkin protein

smart00213
Location:1 → 72

UBQ; Ubiquitin homologues

smart00647
Location:313 → 375

IBR; In Between Ring fingers

pfam01485
Location:413 → 453

IBR; IBR domain, a half RING-finger domain
NM_013987.3 → NP_054642.2 E3 ubiquitin-protein ligase parkin isoform 2

See identical proteins and their annotated locations for NP_054642.2

Status: REVIEWED

Description

Transcript Variant: Transcript variant 2 lacks exons 5 which is present in the full-length variant 1.

Source sequence(s)

AK292590, AL132982, DB023187

Consensus CDS

CCDS5282.1

UniProtKB/TrEMBL

X5DNX0

Related

ENSP00000355863.1, ENST00000366897.5

Conserved Domains (4) summary

cd01798
Location:3 → 72

parkin_N; amino-terminal ubiquitin-like of parkin protein

smart00213
Location:1 → 72

UBQ; Ubiquitin homologues

smart00647
Location:285 → 347

IBR; In Between Ring fingers

pfam01485
Location:385 → 425

IBR; IBR domain, a half RING-finger domain
NM_013988.3 → NP_054643.2 E3 ubiquitin-protein ligase parkin isoform 3

Status: REVIEWED

Description

Transcript Variant: Transcript variant 3 lacks exons 3 to 5 present in the full-length transcript variant 1.

Source sequence(s)

AK292590, AL132982, DB023187

Consensus CDS

CCDS5283.1

UniProtKB/Swiss-Prot

O60260

Related

ENSP00000355862.1, ENST00000366896.5

Conserved Domains (4) summary

cd01798
Location:3 → 82

parkin_N; amino-terminal ubiquitin-like of parkin protein

smart00213
Location:1 → 58

UBQ; Ubiquitin homologues

smart00647
Location:164 → 226

IBR; In Between Ring fingers

pfam01485
Location:264 → 304

IBR; IBR domain, a half RING-finger domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

161347417..162727766 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024446449.2 → XP_024302217.1 E3 ubiquitin-protein ligase parkin isoform X3

UniProtKB/TrEMBL

S4X465

Related

ENST00000674436.1

Conserved Domains (2) summary

pfam01485
Location:234 → 296

IBR; IBR domain, a half RING-finger domain

cd16627
Location:157 → 215

RING-HC_RBR_parkin; RING finger, HC subclass, found in parkin and similar proteins
XM_011535863.2 → XP_011534165.1 E3 ubiquitin-protein ligase parkin isoform X2

UniProtKB/TrEMBL

X5DNX0

Conserved Domains (4) summary

cd01798
Location:3 → 72

parkin_N; amino-terminal ubiquitin-like of parkin protein

smart00213
Location:1 → 72

UBQ; Ubiquitin homologues

smart00647
Location:312 → 374

IBR; In Between Ring fingers

pfam01485
Location:412 → 452

IBR; IBR domain, a half RING-finger domain
XM_017010908.2 → XP_016866397.1 E3 ubiquitin-protein ligase parkin isoform X1

UniProtKB/TrEMBL

X5DNX0