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    PARK2 parkinson protein 2, E3 ubiquitin protein ligase (parkin) [ Homo sapiens (human) ]

    Gene ID: 5071, updated on 22-May-2013
    Official Symbol
    PARK2provided by HGNC
    Official Full Name
    parkinson protein 2, E3 ubiquitin protein ligase (parkin)provided by HGNC
    Primary source
    HGNC:8607
    Locus tag
    KB-152G3.1
    See related
    Ensembl:ENSG00000185345; HPRD:03967; MIM:602544; Vega:OTTHUMG00000015970
    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; PRKN; AR-JP; LPRS2
    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]
    Location :
    6q25.2-q27
    Sequence :
    Chromosome: 6; NC_000006.11 (161768590..163148834, complement)
    See PARK2 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase 4 Neighboring gene AGPAT4 intronic transcript 1 (non-protein coding) Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 4 Neighboring gene keratin 8 pseudogene 44 Neighboring gene transfer RNA glutamic acid 33 (anticodon UUC) pseudogene Neighboring gene PARK2 co-regulated Neighboring gene ribosomal protein L34 pseudogene 15

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Landscape of the PARKIN-dependent ubiquitylome in response to mitochondrial depolarization. Sarraf SA, et al. Nature, 2013 Apr 18. PMID 23503661.
    2. AF-6 is a positive modulator of the PINK1/parkin pathway and is deficient in Parkinson's disease. Haskin J, et al. Hum Mol Genet, 2013 May 15. PMID 23393160.
    3. ATF4 protects against neuronal death in cellular Parkinson's disease models by maintaining levels of parkin. Sun X, et al. J Neurosci, 2013 Feb 6. PMID 23392669.
    4. Declines in Drp1 and parkin expression underlie DNA damage-induced changes in mitochondrial length and neuronal death. Wang DB, et al. J Neurosci, 2013 Jan 23. PMID 23345212.
    5. PINK1 drives Parkin self-association and HECT-like E3 activity upstream of mitochondrial binding. Lazarou M, et al. J Cell Biol, 2013 Jan 21. PMID 23319602.

    See all (452) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. studies provide a resource for understanding how the PINK1-PARKIN pathway re-sculpts the proteome to support mitochondrial homeostasis
      Title: Landscape of the PARKIN-dependent ubiquitylome in response to mitochondrial depolarization.
    2. Parkin ubiquitinates TDP-43 and facilitates its cytosolic accumulation through a multiprotein complex with HDAC6.
      Title: Parkin ubiquitinates Tar-DNA binding protein-43 (TDP-43) and promotes its cytosolic accumulation via interaction with histone deacetylase 6 (HDAC6).
    3. This systematic review included information from >5800 unique cases.The weighted mean proportion of cases with PARK2 (parkin), PINK1, and PARK7 (DJ-1) mutations was 8.6%, 3.7%, and 0.4%, respectively. PINK1 mutations were more common in Asian subjects.
      Title: Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
    4. Parkin, a gene associated with autosomal recessive Parkinson's disease, plays a critical role in ATF4-mediated protection.
      Title: ATF4 protects against neuronal death in cellular Parkinson's disease models by maintaining levels of parkin.
    5. The screening for novel Parkin substrate(s) identified mitochondrial hexokinase I (HKI) as a candidate.
      Title: Mitochondrial hexokinase HKI is a novel substrate of the Parkin ubiquitin ligase.
    6. The present findings demonstrate that genotoxic stress in neurons results in p53-dependent declines in Drp1 and parkin levels contribute to altered mitochondrial morphology and cell death.
      Title: Declines in Drp1 and parkin expression underlie DNA damage-induced changes in mitochondrial length and neuronal death.
    7. Fourteen different PARK2 mutations (3 point mutations plus 11 exon rearrangements) were identified in 18 patients (17-heterozygous) with early-onset Parkinson disease.
      Title: Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.
    8. conducted high-density association mapping of PARK2/PACRG SNPs with leprosy and identified 69 SNPs significantly associated with leprosy in 198 single-case Vietnamese leprosy families
      Title: Linkage disequilibrium pattern and age-at-diagnosis are critical for replicating genetic associations across ethnic groups in leprosy.
    9. VDAC 1, 2, and 3 recruit Parkin to defective mitochondria to promote mitochondrial autophagy.
      Title: Voltage-dependent anion channels (VDACs) recruit Parkin to defective mitochondria to promote mitochondrial autophagy.
    10. The parkin protein acts as a tumor suppressor in human cervical cancer cells by modulating survivin expression and caspase activity.
      Title: Parkin induces apoptotic cell death in TNF-α-treated cervical cancer cells.
    Submit: New GeneRIF Correction See all (305)

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

    Review eQTL and phenotype association data in this region using PheGenI

    Parkinson disease 2

    Summary from GeneReviews: Parkinson Disease Overview Go to GeneReviews

    Disease Characteristics
    Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, and slowed movement (bradykinesia). Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. Generally, individuals with onset before age 20 years are considered to have juvenile-onset Parkinson disease, those with onset before age 50 years are classified as having early-onset Parkinson disease, and those with onset after age 50 years are considered to have late-onset Parkinson disease.
    Diagnosis Testing
    The diagnosis of Parkinson disease is based solely on the clinical findings of tremor, rigidity, and bradykinesia. A good response to levodopa and asymmetric onset of limb involvement are generally regarded as supporting diagnostic features. The cardinal pathologic feature of Parkinson disease is the loss of dopaminergic neurons in the substantia nigra with intracytoplasmic inclusions (Lewy bodies) in the remaining, intact nigral neurons. The genetic cause of some forms of Parkinson disease has been identified. Seven disease genes have been implicated. Mutations in three known genes, SNCA (PARK1), UCHL1 (PARK5), and LRRK2 (PARK8) and one mapped gene (PARK3) result in autosomal dominant Parkinson disease. Mutations in three known genes, PARK2 (PARK2), PARK7 (PARK7), and PINK1 (PARK6), result in autosomal recessive Parkinson disease. Three susceptibility genes have been identified. Molecular genetic testing is clinically available for PARK2 (the gene encoding parkin), PINK1, PARK7, SNCA, and LRRK2.
    Genetic Counseling
    Parkinson disease can be inherited in an autosomal dominant or autosomal recessive manner; however, most cases of Parkinson disease are thought to result from the effects of multiple genes as well as environmental risk factors. Genetic counseling of affected individuals and their family members must be done on a family-by-family basis. The risk to first-degree relatives of a person with Parkinson disease varies from study to study and from country to country. In families with a non-mendelian form of Parkinson disease, first-degree relatives of an affected individual are between 2.7 and 3.5 times more likely to develop Parkinson disease than individuals without a family history of Parkinson disease. Their cumulative lifetime risk of developing Parkinson disease is therefore between 3% and 7%.
    References

    Summary from GeneReviews: Parkin Type of Early-Onset Parkinson Disease Go to GeneReviews

    Disease Characteristics
    Parkin type of early-onset Parkinson disease is characterized by rigidity, bradykinesia, and resting tremor. Lower-limb dystonia may be a presenting sign. Onset usually occurs between ages 20 and 40 years with an average age of onset in the early to mid-thirties. The disease is slowly progressive and disease duration of more than 50 years has been reported. Clinical signs vary; hyperreflexia is common. Dyskinesia as a result of treatment with levodopa frequently occurs.
    Diagnosis Testing
    The diagnosis of parkin type of early-onset Parkinson disease is considered primarily in individuals with early-onset parkinsonism (age <40 years), particularly if autosomal recessive inheritance is suspected. PARK2, the gene encoding the protein parkin, is the only gene in which mutations are known to cause parkin type of early-onset Parkinson disease. Molecular genetic testing is available on a clinical basis. The diagnosis of parkin type of early-onset Parkinson disease can only be confirmed when disease-causing mutations are identified on both alleles of PARK2 (i.e., the individual is homozygous for the same disease-causing allele or compound heterozygous for two different disease-causing alleles). The mutation detection frequency varies by family history and age of onset.
    Genetic Counseling
    Parkin type of early-onset Parkinson disease is inherited in an autosomal recessive manner. At conception, each sib of a proband has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier. Each unaffected sib has a 2/3 chance of being a carrier. Carrier testing and prenatal testing for pregnancies at increased risk are possible if both disease-causing alleles have been identified in an affected family member.
    References
    Products Interactant Other Gene Complex Source Pubs Description
    NP_004553.1 NP_005451.1 SNCAIP    BIND  PubMed Synphilin-1 is ubiquitinated by Parkin. 
    NP_004553.1 NP_061828.1 UBB    BIND  PubMed Parkin is S-nitrosylated. 
    NP_004553.1     BIND  PubMed Parkin is S-nitrosylated. 
    O60260 Q13155 AIMP2    HPRD  PubMed  
    O60260 O14936 CASK    HPRD  PubMed  
    O60260 P29466 CASP1    HPRD  PubMed  
    O60260 Q14790 CASP8    HPRD  PubMed  
    O60260 Q12959 DLG1    HPRD  PubMed  
    O60260 Q969H0 FBXW7    HPRD  PubMed  
    O60260 O15354 GPR37    HPRD  PubMed  
    O60260 Q13224 GRIN2B    HPRD  PubMed  
    O60260 Hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing HEXDC    HPRD  PubMed  
    O60260 Q9NRX3 NDUFA4L2    HPRD  PubMed  
    O60260 P68402 PAFAH1B2    HPRD  PubMed  
    O60260 O60260 PARK2    HPRD  PubMed  
    O60260 O14818 PSMA7    HPRD  PubMed  
    O60260 P63000 RAC1    HPRD  PubMed  
    O60260 O60671 RAD1    HPRD  PubMed  
    O60260 P49792 RANBP2    HPRD  PubMed  
    O60260 P41220 RGS2    HPRD  PubMed  
    O60260 P49796 RGS3    HPRD  PubMed  
    O60260 O43236 SEPT4    HPRD  PubMed  
    O60260 Q99719 SEPT5    HPRD  PubMed  
    O60260 Q14190 SIM2    HPRD  PubMed  
    O60260 P37840 SNCA    HPRD  PubMed  
    O60260 Q9BT88 SYT11    HPRD  PubMed  
    O60260 Q15645 TRIP13    HPRD  PubMed  
    O60260 P68366 TUBA4A    HPRD  PubMed  
    O60260 P07437 TUBB    HPRD  PubMed  
    O60260 Ubiquitin B UBB    HPRD  PubMed  
    O60260 P62253 UBE2G1    HPRD  PubMed  
    O60260 P68036 UBE2L3    HPRD  PubMed  
    O60260 O14933 UBE2L6    HPRD  PubMed  
    O60260 Q04917 YWHAH    HPRD  PubMed  
    BioGRID:111105 BioGRID:106543 ABL1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:111105 BioGRID:106573 ACTA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111105 BioGRID:113684 AIMP2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:111105 BioGRID:120765 AMBRA1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111105 BioGRID:106848 APP    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:111105 BioGRID:117348 ARIH1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:106900 ARR3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:106901 ARRB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:106902 ARRB2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:112218 ATXN2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:110433 ATXN3    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:111105 BioGRID:248780 Atxn3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111105 BioGRID:107047 BACH1    BioGRID  PubMed Affinity Capture-Western 
    NP_004864.1 BAG5    BIND  PubMed BAG5 interacts with parkin. 
    BioGRID:111105 BioGRID:114905 BAG5    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:107068 BCL2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:107169 C1QBP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:198414 C1qbp    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111105 BioGRID:107265 CAMK2A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:114141 CASK    BioGRID  PubMed Affinity Capture-Western; Co-fractionation; Reconstituted Complex 
    BioGRID:111105 BioGRID:114417 CCNA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:107338 CCNE1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:115827 CCT2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:107455 CDK5    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:111105 BioGRID:122729 CHPF    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:111105 BioGRID:120949 CISD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111105 BioGRID:107836 CSNK1A1    BioGRID  PubMed Biochemical Activity 
    BioGRID:111105 BioGRID:114032 CUL1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:108086 DLG4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:109534 DNAJA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:109569 DNAJB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:115370 DNM1L    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:111105 BioGRID:119132 DYT10    BioGRID  PubMed Biochemical Activity 
    BioGRID:111105 BioGRID:108347 EP300    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:108374 EPS15    BioGRID  PubMed Biochemical Activity; Reconstituted Complex 
    BioGRID:111105 BioGRID:108405 ESRRA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:108406 ESRRB    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:108407 ESRRG    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:199402 Egfr    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:260426 Eps15    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111105 BioGRID:199489 Eps15    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:108497 FBP1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:111105 BioGRID:120581 FBXW7    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:108868 GAPDH    BioGRID  PubMed Co-fractionation 
    BioGRID:111105 BioGRID:108899 GBA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:109119 GPR37    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Phenotypic Suppression; Reconstituted Complex; Two-hybrid 
    BioGRID:111105 BioGRID:109161 GRIN2B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:115106 HDAC4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:109345 HK1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111105 BioGRID:114845 HOMER1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:109552 HSP90AA1    BioGRID  PubMed Affinity Capture-Luminescence; Affinity Capture-Western 
    BioGRID:111105 BioGRID:109535 HSPA1A    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:109540 HSPA4    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:109544 HSPA8    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:109545 HSPA9    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:118165 HTRA2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:114089 IKBKG    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:111105 BioGRID:110172 LIMK1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:125700 LRRK2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:111580 MAPK1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:110308 MAPT    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:120801 MFN1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity 
    BioGRID:111105 BioGRID:115255 MFN2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111105 BioGRID:121231 NDUFA4L2    BioGRID  PubMed Two-hybrid 
    BioGRID:111105 BioGRID:110815 NEDD8    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111105 BioGRID:110895 NME2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111105 BioGRID:126421 PACRG    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:111086 PAFAH1B2    BioGRID  PubMed Two-hybrid 
    BioGRID:111105 BioGRID:111105 PARK2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:111105 BioGRID:116446 PARK7    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:111105 BioGRID:111142 PCNA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:111161 PDCD2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:111105 BioGRID:114849 PICK1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:111105 BioGRID:122376 PINK1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Phenotypic Suppression; Reconstituted Complex 
    BioGRID:111105 BioGRID:111351 PLCG1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:111553 PRKACA    BioGRID  PubMed Biochemical Activity 
    BioGRID:111105 BioGRID:111615 PRPS1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:111655 PSMA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111105 BioGRID:111658 PSMA4    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:111105 BioGRID:111675 PSMC3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:111678 PSMC5    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:111681 PSMD2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:111683 PSMD4    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Co-crystal Structure; Co-fractionation; Reconstituted Complex 
    BioGRID:111105 BioGRID:111817 RAC1    BioGRID  PubMed Two-hybrid 
    BioGRID:111105 BioGRID:111771 RAD1    BioGRID  PubMed Two-hybrid 
    BioGRID:111105 BioGRID:111823 RAD23A    BioGRID  PubMed Biochemical Activity 
    BioGRID:111105 BioGRID:111839 RANBP2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:111105 BioGRID:111929 RGS2    BioGRID  PubMed Two-hybrid 
    BioGRID:111105 BioGRID:120576 RHOT1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111105 BioGRID:124646 RHOT2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111105 BioGRID:115488 RNF41    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:111105 BioGRID:125819 SENP8    BioGRID  PubMed Biochemical Activity 
    BioGRID:111105 BioGRID:111414 SEPT5    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Two-hybrid 
    BioGRID:111105 BioGRID:112384 SIM2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:110950 SLC11A2    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:111105 BioGRID:112422 SLC6A3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:112506 SNCA    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Phenotypic Suppression 
    NP_005451.1 SNCAIP    BIND  PubMed Synphilin interacts with parkin. 
    BioGRID:111105 BioGRID:114986 SNCAIP    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Two-hybrid 
    BioGRID:111105 BioGRID:114397 SQSTM1    BioGRID  PubMed Co-localization 
    BioGRID:111105 BioGRID:115563 STUB1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:112719 SYN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:116815 SYT11    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:111105 BioGRID:202285 Sept5    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:111105 BioGRID:112810 TCP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:112895 TFRC    BioGRID  PubMed Co-fractionation 
    BioGRID:111105 BioGRID:115201 TOMM70A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111105 BioGRID:113038 TRAF2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:114730 TRIP13    BioGRID  PubMed Two-hybrid 
    BioGRID:111105 BioGRID:113603 TUBA1A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:113134 TUBG1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:119748 UBASH3A    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111105 BioGRID:124390 UBASH3B    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111105 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Co-fractionation; Co-localization; Reconstituted Complex 
    BioGRID:111105 BioGRID:113170 UBE2D2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111105 BioGRID:113171 UBE2D3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111105 BioGRID:113172 UBE2E1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111105 BioGRID:113173 UBE2E2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:113174 UBE2G1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:113175 UBE2G2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111105 BioGRID:119555 UBE2J1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:125598 UBE2J2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:129602 UBE2L1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111105 BioGRID:113180 UBE2L3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:114672 UBE2L6    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:114504 UBE2M    BioGRID  PubMed Biochemical Activity 
    BioGRID:111105 BioGRID:113182 UBE2N    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111105 BioGRID:113183 UBE2V1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111105 BioGRID:113258 VCP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:113259 VDAC1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111105 BioGRID:113260 VDAC2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111105 BioGRID:113262 VDAC3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111105 BioGRID:113365 YWHAH    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111105 BioGRID:127574 ZNF746    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Alpha-synuclein signaling, organism-specific biosystem (from Pathway Interaction Database)
      Alpha-synuclein signaling, organism-specific biosystem
      Alpha-synuclein signaling
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Parkin-Ubiquitin Proteasomal System pathway, organism-specific biosystem (from WikiPathways)
      Parkin-Ubiquitin Proteasomal System pathway, organism-specific biosystemThis pathway describes the Parkin-Ubiquitin proteasome degradation system.
    • Parkinson's disease, organism-specific biosystem (from KEGG)
      Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL...
    • Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
      Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...
    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    chaperone binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		  
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		  
    ubiquitin-protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    aggresome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    cell death IDA
    Inferred from Direct Assay
    more info
    		  
    central nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    mitochondrion degradation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    negative regulation of actin filament bundle assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    negative regulation of cell death IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    negative regulation of neuron apoptotic process IDA
    Inferred from Direct Assay
    more info
    		  
    negative regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    negative regulation of release of cytochrome c from mitochondria IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    neuron death IDA
    Inferred from Direct Assay
    more info
    		  
    positive regulation of I-kappaB kinase/NF-kappaB cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		  
    protein K63-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein monoubiquitination IDA
    Inferred from Direct Assay
    more info
    		  
    protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    regulation of autophagy IDA
    Inferred from Direct Assay
    more info
    		  
    regulation of reactive oxygen species metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		  
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    aggresome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Preferred Names
    E3 ubiquitin-protein ligase parkin
    Names
    E3 ubiquitin-protein ligase parkin
    parkinson juvenile disease protein 2
    Parkinson disease (autosomal recessive, juvenile) 2, parkin

    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_008289.1 RefSeqGene

      Range
      5001..1385245
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      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
      O60260
      Related
      ENSP00000355865, OTTHUMP00000017565, ENST00000366898, OTTHUMT00000042995
      Conserved Domains (4) summary
      smart00647
      Location:313 – 375
      Blast Score: 113
      IBR; In Between Ring fingers
      cd01798
      Location:3 – 72
      Blast Score: 352
      parkin_N; amino-terminal ubiquitin-like of parkin protein
      smart00213
      Location:1 – 72
      Blast Score: 177
      UBQ; Ubiquitin homologues
      pfam01485
      Location:332 – 375
      Blast Score: 91
      IBR; IBR domain

    2. NM_013987.2 → NP_054642.2  E3 ubiquitin-protein ligase parkin isoform 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/Swiss-Prot
      O60260
      UniProtKB/TrEMBL
      Q5VVX4
      Conserved Domains (4) summary
      smart00647
      Location:285 – 347
      Blast Score: 114
      IBR; In Between Ring fingers
      cd01798
      Location:3 – 72
      Blast Score: 350
      parkin_N; amino-terminal ubiquitin-like of parkin protein
      smart00213
      Location:1 – 72
      Blast Score: 175
      UBQ; Ubiquitin homologues
      pfam01485
      Location:304 – 347
      Blast Score: 91
      IBR; IBR domain

    3. NM_013988.2 → 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
      Conserved Domains (4) summary
      smart00647
      Location:164 – 226
      Blast Score: 108
      IBR; In Between Ring fingers
      cd01798
      Location:3 – 82
      Blast Score: 301
      parkin_N; amino-terminal ubiquitin-like of parkin protein
      pfam00240
      Location:13 – 58
      Blast Score: 158
      ubiquitin; Ubiquitin family
      pfam01485
      Location:183 – 226
      Blast Score: 87
      IBR; IBR domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p10 Primary Assembly

      Range
      161768590..163148834, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      159224034..160600983, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018917.1 Alternate CHM1_1.0

      Range
      161776328..163156569, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01015120.1 (227950..360256) None
    genomic ABBA01015121.1 None
    genomic ABBA01015122.1 None
    genomic ABBA01015123.1 None
    genomic ABBA01015124.1 None
    genomic ABBA01015125.1 None
    genomic ABBA01015126.1 None
    genomic ABBA01015127.1 None
    genomic ABBA01015128.1 None
    genomic ABBA01015129.1 None
    genomic ABBA01015130.1 None
    genomic ABBA01015131.1 None
    genomic ABBA01015132.1 None
    genomic ABBA01015133.1 None
    genomic ABBA01015134.1 None
    genomic ABBA01015135.1 None
    genomic ABBA01015136.1 None
    genomic ABBA01015137.1 None
    genomic ABBA01015138.1 None
    genomic ABBA01015139.1 None
    genomic ABBA01015140.1 None
    genomic ABBA01015141.1 None
    genomic ABBA01015142.1 None
    genomic ABBA01015143.1 None
    genomic ABBA01015144.1 None
    genomic ABBA01015145.1 None
    genomic ABBA01015146.1 None
    genomic AL008631.1 (25429..93636) None
    genomic AL035697.19 (101..134780) None
    genomic AL078583.15 None
    genomic AL132982.12 (61942..91798) None
    genomic AL138716.6 (101..55319) None
    genomic AL445215.7 (1960..56593) None
    genomic AMYH01016821.1 (86777..107203) None
    genomic AMYH01016822.1 None
    genomic AMYH01016823.1 None
    genomic AMYH01016824.1 None
    genomic AMYH01016825.1 None
    genomic AMYH01016826.1 None
    genomic AMYH01016827.1 None
    genomic AMYH01016828.1 None
    genomic AMYH01016829.1 None
    genomic AMYH01016830.1 None
    genomic AMYH01016831.1 None
    genomic AMYH01016832.1 None
    genomic AMYH01016833.1 None
    genomic AMYH01016834.1 None
    genomic AP000886.3 None
    genomic AP000887.3 None
    genomic AP000888.3 None
    genomic AP001576.3 (24409..103968) None
    genomic AP001577.3 None
    genomic AP001578.3 None
    genomic AP002091.2 None
    genomic AP003699.1 None
    genomic AY463003.1 AAR27057.1
    genomic AY564223.1 AAS88420.1
    genomic AY564224.1 AAS88421.1
    genomic AY564225.1 AAS88422.1
    genomic AY745246.1 AAU93631.1
    genomic AY745247.1 AAU93632.1
    genomic CH471051.2 EAW47571.1
      EAW47572.1
      EAW47573.1
      EAW47574.1
    mRNA AB009973.1 BAA25751.1
    mRNA AB245403.1 BAF43729.1
    mRNA AF381282.1 AAM21457.1
    mRNA AF381283.1 AAM21458.1
    mRNA AF381284.1 AAM21459.1
    mRNA AF381286.1 AAM21461.1
    mRNA AK292590.1 BAF85279.1
    mRNA AK294684.1 BAG57845.1
    mRNA BC022014.2 AAH22014.1
    mRNA DB023187.1 None
    mRNA EF375726.1 ABN46990.1
    mRNA GU345837.1 None
    mRNA GU345838.1 ADB90269.1
    mRNA GU345839.1 ADB90270.1
    mRNA GU345840.1 ADB90271.1
    mRNA GU357501.1 None
    mRNA GU357502.1 None
    mRNA GU361466.1 ADB91978.1
    mRNA GU361467.1 ADB91979.1
    mRNA GU361468.1 ADB91980.1
    mRNA GU361469.1 ADB91981.1
    mRNA GU361470.1 None
    other-genetic HQ447316.1 ADQ31803.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60260.2 GenPept UniProtKB/Swiss-Prot:O60260

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioAssay, by Protein Target
        BioAssay, by Protein Target
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • Books
        Links between Entrez Gene and 'Books' are established if a GeneID is explicitly referenced in a book.
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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