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

    Gene ID: 5071, updated on 10-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:161581716-161582274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:161582962-161583462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:161586885-161587594 Neighboring gene NANOG hESC enhancer GRCh37_chr6:161589077-161589672 Neighboring gene Sharpr-MPRA regulatory region 12533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25412 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:161606735-161607934 Neighboring gene AGPAT4 intronic transcript 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:161644168-161644410 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:161647413-161647718 Neighboring gene Sharpr-MPRA regulatory region 4197 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:161713123-161713635 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:161724387-161725586 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:161736020-161737219 Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 4 Neighboring gene uncharacterized LOC105378094 Neighboring gene uncharacterized LOC124901457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:161775686-161776186 Neighboring gene Sharpr-MPRA regulatory region 4750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25413 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:161796209-161796749 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:161836417-161836942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:161836943-161837468 Neighboring gene uncharacterized LOC124901456 Neighboring gene MPRA-validated peak6306 silencer Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:161864752-161865258 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:161865259-161865763 Neighboring gene uncharacterized LOC105378098 Neighboring gene NANOG hESC enhancer GRCh37_chr6:161919346-161919847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:161939551-161940051 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:161954848-161955039 Neighboring gene Sharpr-MPRA regulatory region 5576 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:162074308-162074601 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:162074817-162076016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:162102647-162103226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:162103227-162103804 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:162148005-162148758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25415 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:162399319-162399820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:162399821-162400320 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:162484237-162485436 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:162520224-162521423 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:162621359-162622558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:162639333-162639833 Neighboring gene uncharacterized LOC105378097 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:162759597-162760144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:162760145-162760692 Neighboring gene uncharacterized LOC105369171 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:162888287-162888788 Neighboring gene NANOG hESC enhancer GRCh37_chr6:162909371-162909872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:162952273-162953090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:162963903-162964402 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:162967043-162967544 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:162967545-162968044 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:163135428-163135928 Neighboring gene keratin 8 pseudogene 44 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:163148405-163148626 Neighboring gene tRNA-Glu (TTC) 15-1 Neighboring gene VISTA enhancer hs1358 Neighboring gene parkin coregulated Neighboring gene ribosomal protein L34 pseudogene 15

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal recessive juvenile Parkinson disease 2 Compare labs
    Lung cancer
    MedGen: C0242379 OMIM: 211980 GeneReviews: Not available
    Compare labs
    Ovarian neoplasm
    MedGen: C0919267 GeneReviews: Not available
    Compare labs

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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
    NP_054642.2
    NP_054643.2
    XP_011534165.1
    XP_016866397.1
    XP_024302217.1
    XP_054211507.1
    XP_054211508.1
    XP_054211509.1

    NCBI Reference Sequences (RefSeq)

    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

    1. NG_008289.2 RefSeqGene

      Range
      5037..1385386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004562.3NP_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:372
      parkin_N; amino-terminal ubiquitin-like of parkin protein
      smart00213
      Location:172
      UBQ; Ubiquitin homologues
      smart00647
      Location:313375
      IBR; In Between Ring fingers
      pfam01485
      Location:413453
      IBR; IBR domain, a half RING-finger domain
    2. NM_013987.3NP_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:372
      parkin_N; amino-terminal ubiquitin-like of parkin protein
      smart00213
      Location:172
      UBQ; Ubiquitin homologues
      smart00647
      Location:285347
      IBR; In Between Ring fingers
      pfam01485
      Location:385425
      IBR; IBR domain, a half RING-finger domain
    3. NM_013988.3NP_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:382
      parkin_N; amino-terminal ubiquitin-like of parkin protein
      smart00213
      Location:158
      UBQ; Ubiquitin homologues
      smart00647
      Location:164226
      IBR; In Between Ring fingers
      pfam01485
      Location:264304
      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

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      161347417..162727766 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      S4X465
      Related
      ENST00000674436.1
      Conserved Domains (2) summary
      pfam01485
      Location:234296
      IBR; IBR domain, a half RING-finger domain
      cd16627
      Location:157215
      RING-HC_RBR_parkin; RING finger, HC subclass, found in parkin and similar proteins
    2. XM_011535863.2XP_011534165.1  E3 ubiquitin-protein ligase parkin isoform X2

      UniProtKB/TrEMBL
      X5DNX0
      Conserved Domains (4) summary
      cd01798
      Location:372
      parkin_N; amino-terminal ubiquitin-like of parkin protein
      smart00213
      Location:172
      UBQ; Ubiquitin homologues
      smart00647
      Location:312374
      IBR; In Between Ring fingers
      pfam01485
      Location:412452
      IBR; IBR domain, a half RING-finger domain
    3. XM_017010908.2XP_016866397.1  E3 ubiquitin-protein ligase parkin isoform X1

      UniProtKB/TrEMBL
      X5DNX0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      162705911..164090895 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355534.1XP_054211509.1  E3 ubiquitin-protein ligase parkin isoform X3

      UniProtKB/TrEMBL
      S4X465
    2. XM_054355533.1XP_054211508.1  E3 ubiquitin-protein ligase parkin isoform X2

      UniProtKB/TrEMBL
      X5DNX0
    3. XM_054355532.1XP_054211507.1  E3 ubiquitin-protein ligase parkin isoform X1

      UniProtKB/TrEMBL
      X5DNX0