PRKN Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PRKN |
| Official Name | parkin RBR E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:HGNC:8607] |
| Ensembl ID | ENSG00000185345 |
| Bio databases IDs | |
| Aliases | parkin RBR E3 ubiquitin protein ligase, E3 ubiquitin ligase |
| Synonyms | AR-JP, LPRS2, OVC, Park, PARK2, Parkin, parkin RBR E3 ubiquitin protein ligase, PDJ, Pk, ST8 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PRKN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Hsp70 protein binding
- transcription co-repressor
- G-protein-coupled receptor binding
- heat shock protein binding
- BRcat_Rcat_RBR
- enzyme
- Cdk5 phosphorylation site
- ubiquitin-like domain
- identical protein binding
- Ubiquitin family
- zinc ion binding
- tubulin binding
- RING/Ubox like zinc-binding domain
- actin binding
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- Ubiquitin homologues
- chaperone binding
- ubiquitin protein ligase binding
- IBR domain, a half RING-finger domain
- protein kinase binding
- protease binding
- beta-catenin binding
- ubiquitin protein ligase activity
- enzyme binding
- histone deacetylase binding
- linker domain
- ubiquitin binding
- protein domain specific binding
- protein binding
- RING1 domain of Parkin
- SH3-domain binding
- PDZ-domain binding
- RING finger-like zinc-binding domain 0 of parkin
- ubiquitin ligase-like domain
- binding protein
- kinase binding
- In Between Ring fingers
- Ubl1_cv_Nsp3_N-like
- ubiquitin-protein transferase activity
Pathways
Biological processes and signaling networks where the PRKN gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- non-insulin-dependent diabetes mellitus
- major depression
- dementia
- schizophrenia
- Parkinson disease
- multiple sclerosis
- cancer
- COVID-19
- idiopathic scoliosis
role in cell
- activation
- apoptosis
- proliferation
- loss
- expression in
- cell death
- growth
- phosphorylation in
- invasion by
- migration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- plasma membrane fraction
- microtubule fractions
- synaptic plasma membrane fractions
- postsynaptic density (PSD) fractions
- insoluble fractions
- synaptic vesicle membrane
- aggresome
- glutaminergic synapse
- intracellular membrane-bounded organelle
- presynaptic regions
- intracellular space
- perinuclear region
- postsynaptic region
- Nucleus
- Plasma Membrane
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- microtubules
- cytosol
- endoplasmic reticulum membrane
- Golgi membrane
- mitochondrial outer membrane
- nuclear speckles
- synaptic vesicles
- neurites
- synapse
- photoreceptor inner segments
- cytoplasmic vesicles
- membrane rafts
- membrane processes
- perikaryon
- axons
- axon terminals
- detergent-soluble fraction
- vesicle fraction
- synaptic vesicle fractions
- synaptosomal fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PRKN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- norepinephrine metabolic process
- dopamine metabolic process
- positive regulation of protein binding
- adult locomotory behavior
- positive regulation of DNA binding
- learning
- protein K27-linked ubiquitination
- regulation of cellular response to oxidative stress
- regulation of mitochondrial membrane potential
- protein K29-linked ubiquitination
- aggresome assembly
- regulation of protein ubiquitination
- cellular response to unfolded protein
- regulation of lipid transport
- proteasomal protein catabolic process
- negative regulation of glucokinase activity
- positive regulation of protein catabolic process
- regulation of apoptotic process
- positive regulation of mitochondrial fission
- macromitophagy
- mitochondrion degradation
- mitochondrial fission
- negative regulation of gene expression
- proteasomal ubiquitin-dependent protein catabolic process
- central nervous system development
- regulation of glucose metabolic process
- positive regulation of gene expression
- regulation of autophagy
- cellular response to manganese ion
- negative regulation of actin filament bundle assembly
- regulation of mitochondrion organization
- positive regulation of proteasomal ubiquitin-dependent protein catabolic process
- response to endoplasmic reticulum stress
- protein ubiquitination
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- negative regulation of insulin secretion
- positive regulation of transcription from RNA polymerase II promoter
- regulation of necroptosis
- negative regulation of neuron apoptotic process
- negative regulation of transcription from RNA polymerase II promoter
- response to oxidative stress
- dopamine uptake involved in synaptic transmission
- negative regulation of mitochondrial fusion
- startle response
- positive regulation of mitochondrial fusion
- protein localization in mitochondrion
- regulation of canonical Wnt receptor signaling pathway
- positive regulation of neurotransmitter uptake
- regulation of reactive oxygen species metabolic process
- macroautophagy
- free ubiquitin chain polymerization
- negative regulation of reactive oxygen species metabolic process
- protein autoubiquitination
- regulation of dopamine secretion
- protein K11-linked ubiquitination
- protein K48-linked ubiquitination
- negative regulation of release of cytochrome c from mitochondria
- protein polyubiquitination
- regulation of synaptic vesicle endocytosis
- negative regulation of JNK cascade
- protein monoubiquitination
- mitochondrion organization
- ubiquitin-dependent protein catabolic process
- protein destabilization
- negative regulation of canonical Wnt receptor signaling pathway
- neuron homeostasis
- regulation of protein stability
- negative regulation of protein phosphorylation
- regulation of dopamine metabolic process
- cellular response to toxin
- protein K63-linked ubiquitination
- cellular response to oxidative stress
- protein stabilization
- protein K6-linked ubiquitination
- synaptic transmission, glutamatergic
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- nuclear speck
- Golgi apparatus
- endoplasmic reticulum
- mitochondrial outer membrane
- neuron projection
- nucleus
- perinuclear region of cytoplasm
- ubiquitin ligase complex
- cytoplasm
- mitochondrion
- cytosol
- SCF ubiquitin ligase complex
- aggresome
Molecular Function
What the gene product does at the molecular level
- tubulin binding
- protein kinase binding
- heat shock protein binding
- zinc ion binding
- identical protein binding
- histone deacetylase binding
- beta-catenin binding
- G-protein coupled receptor binding
- ubiquitin-protein ligase activity
- ubiquitin conjugating enzyme binding
- ubiquitin protein ligase binding
- protein binding
- actin binding
- ubiquitin binding
- transcription corepressor activity
- chaperone binding
- phospholipase binding
- PDZ domain binding
- SH3 domain binding
- kinase binding
- enzyme binding
- Hsp70 protein binding