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


RefSeq Accession Definition Sequence Price Select
NM_004562 Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA. Full Length $1425.55
ORF Sequence $405.42
NM_013987 Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 2, mRNA. Full Length $1396.15
ORF Sequence $381.06
NM_013988 Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 3, mRNA. Full Length $1269.10
ORF Sequence $275.79


Gene Symbol PARK2
Entrez Gene ID 5071
Full Name parkinson protein 2, E3 ubiquitin protein ligase (parkin)
Synonyms AR-JP, LPRS2, PDJ, PRKN
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6q25.2-q27
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].
Disorder

MIM: 602544

Parkinson disease, juvenile, type 2, 600116 (3); Adenocarcinoma of
mRNA NM_004562, 169790968
Protein NP_004553, 169790969
Product E3 ubiquitin-protein ligase parkin isoform 1
RefSeq Status REVIEWED
mRNA NM_013987, 169790970
Protein NP_054642, 169790971
Product E3 ubiquitin-protein ligase parkin isoform 2
RefSeq Status REVIEWED
mRNA NM_013988, 169790972
Protein NP_054643, 169790973
Product E3 ubiquitin-protein ligase parkin isoform 3
RefSeq Status REVIEWED
KEGG
hsa05012Parkinson's disease
hsa04141Protein processing in endoplasmic reticulum
hsa04120Ubiquitin mediated proteolysis
Pathway Interaction Database
alphasynuclein_pathwayAlpha-synuclein signaling
Homo sapiens (human)PARK2NP_004553.2
Pan troglodytes (chimpanzee)PARK2XP_001153913.1
Canis lupus familiaris (dog)PARK2XP_855152.1
Bos taurus (cattle)PARK2XP_609337.3
Mus musculus (house mouse)Park2NP_057903.1
Rattus norvegicus (Norway rat)Park2NP_064478.1
Gallus gallus (chicken)PARK2XP_419615.2
Danio rerio (zebrafish)park2NP_001017635.1
Drosophila melanogaster (fruit fly)parkNP_730601.1
Caenorhabditis eleganspdr-1NP_499846.2
Process
IDNameEvidence
GO:0000209protein polyubiquitinationIDA
GO:0000422mitochondrion degradationIMP
GO:0001933negative regulation of protein phosphorylationIDA
GO:0001964startle responseIEA
GO:0006511ubiquitin-dependent protein catabolic processIDA
GO:0007417central nervous system developmentTAS
GO:0007612learningIEA
GO:0008219cell deathIDA
GO:0008344adult locomotory behaviorIEA
GO:0019538protein metabolic processIEA
GO:0032232negative regulation of actin filament bundle assemblyIDA
GO:0035249synaptic transmission, glutamatergicIEA
GO:0042415norepinephrine metabolic processIEA
GO:0042417dopamine metabolic processIEA
GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic processIDA
GO:0043123positive regulation of I-kappaB kinase/NF-kappaB cascadeIDA
GO:0046928regulation of neurotransmitter secretionIEA
GO:0051583dopamine uptakeIEA
GO:0051865protein autoubiquitinationIDA
GO:0060548negative regulation of cell deathIDA
GO:0070534protein K63-linked ubiquitinationIDA
GO:0070842aggresome assemblyIMP
GO:0070936protein K48-linked ubiquitinationIDA
GO:0070997neuron deathIDA
GO:0090201negative regulation of release of cytochrome c from mitochondriaIDA
GO:2000377regulation of reactive oxygen species metabolic processIMP
Component
IDNameEvidence
GO:0005634nucleusIEA
GO:0005737cytoplasmIDA
GO:0005739mitochondrionIMP
GO:0005783endoplasmic reticulumIEA
GO:0005794Golgi apparatusIDA
GO:0005829cytosolIDA
GO:0016235aggresomeIDA
GO:0043005neuron projectionIEA
GO:0043234protein complexIEA
GO:0048471perinuclear region of cytoplasmIDA
Function
IDNameEvidence
GO:0004842ubiquitin-protein ligase activityIDA
GO:0005515protein bindingIPI
GO:0008270zinc ion bindingIEA
GO:0016874ligase activityIEA
GO:0016881acid-amino acid ligase activityIEA
GO:0019900kinase bindingIPI
GO:0019901protein kinase bindingIPI
GO:0030165PDZ domain bindingIPI
GO:0046872metal ion bindingIEA
GO:0051087chaperone bindingIPI
GeneCards PARK2
PDB 2JMO, 1IYF
UniProt Q5VVX4, O60260, Q5VVX3
MIM 602544
Ensembl ENSG00000185345
HGNC 8607
HPRD 03967

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