PINK1 Gene Summary [Human]
This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PINK1 |
| Official Name | PTEN induced kinase 1 [Source:HGNC Symbol;Acc:HGNC:14581] |
| Ensembl ID | ENSG00000158828 |
| Bio databases IDs | |
| Aliases | PTEN induced kinase 1 |
| Synonyms | 1190006F07Rik, BRPK, mFLJ00387, PARK6, PTEN-induced kinase, PTEN-induced kinase 1, PTEN induced putative kinase 1 |
| 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 PINK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- mitochondrial presequence
- protein serine/threonine kinase
- protein kinase
- protein kinase binding
- protease binding
- ATP binding
- protein domain specific binding
- protein binding
- magnesium ion binding
- protease activator
- kinase
- kinase domain
- kinase binding
- binding protein
- Protein Kinases, catalytic domain
Pathways
Biological processes and signaling networks where the PINK1 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
- chronic obstructive pulmonary disease
- early onset Parkinson disease 6
- organismal death
- neoplasia
- Duchenne muscular dystrophy
- gait disturbance
- cancer
- familial Parkinson disease
- fibrosis
- sarcoma
role in cell
- quantity
- cellular infiltration by
- expression in
- phosphorylation in
- activation
- loss
- proliferation
- apoptosis
- cell death
- formation
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
- mitochondrial fraction
- cytoskeleton
- intracellular space
- perinuclear region
- cellular membrane
- Nucleus
- Endoplasmic Reticulum
- Mitochondria
- cytosol
- microsome
- mitochondrial matrix
- mitochondrial intermembrane space
- mitochondrial outer membrane
- mitochondrial inner membrane
- growth cone
- chromatin
- perikaryon
- axons
- astrocyte projections
- apical processes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PINK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of mitochondrial fission
- positive regulation of translation
- regulation of proteasomal protein catabolic process
- regulation of oxidative phosphorylation
- positive regulation of ATP biosynthetic process
- regulation of cellular response to oxidative stress
- positive regulation of ubiquitin-protein ligase activity
- regulation of mitochondrial membrane potential
- positive regulation of protein ubiquitination
- regulation of protein ubiquitination
- cellular response to hypoxia
- negative regulation of intrinsic apoptotic signaling pathway
- intracellular signal transduction
- positive regulation of peptidyl-serine phosphorylation
- positive regulation of macroautophagy
- regulation of apoptotic process
- positive regulation of mitochondrial fission
- macromitophagy
- mitochondrion degradation
- negative regulation of gene expression
- maintenance of protein location in mitochondrion
- negative regulation of macroautophagy
- establishment of protein localization in mitochondrion
- positive regulation of protein dephosphorylation
- regulation of mitochondrion organization
- positive regulation of dopamine secretion
- peptidyl-serine phosphorylation
- positive regulation of protein kinase B signaling cascade
- protein ubiquitination
- dopamine secretion
- hemopoiesis
- respiratory electron transport chain
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- protein phosphorylation
- negative regulation of neuron apoptotic process
- response to oxidative stress
- response to ischemia
- regulation of reactive oxygen species metabolic process
- positive regulation of peptidase activity
- regulation of hydrogen peroxide metabolic process
- activation of protein kinase B activity
- positive regulation of synaptic transmission, dopaminergic
- negative regulation of reactive oxygen species metabolic process
- positive regulation of release of cytochrome c from mitochondria
- regulation of protein complex assembly
- negative regulation of JNK cascade
- mitochondrion organization
- ubiquitin-dependent protein catabolic process
- cellular response to toxin
- cellular response to oxidative stress
- protein stabilization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum
- mitochondrial outer membrane
- chromatin
- mitochondrial inner membrane
- growth cone
- nucleus
- mitochondrial intermembrane space
- cytoskeleton
- perinuclear region of cytoplasm
- cytoplasm
- cell body
- mitochondrion
- membrane
- cytosol
- axon
Molecular Function
What the gene product does at the molecular level
- peptidase activator activity
- C3HC4-type RING finger domain binding
- protein kinase B binding
- protease binding
- protein kinase activity
- protein serine/threonine kinase activity
- magnesium ion binding
- ATP binding
- ubiquitin protein ligase binding
- protein binding
- calcium-dependent protein kinase activity
- kinase activity