PTEN Gene Summary [Human]
This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
Details
| Type | Protein Coding |
| Official Symbol | PTEN |
| Official Name | phosphatase and tensin homolog [Source:HGNC Symbol;Acc:HGNC:9588] |
| Ensembl ID | ENSG00000171862 |
| Bio databases IDs | |
| Aliases | phosphatase and tensin homolog, mutated in multiple advanced cancers 1 |
| Synonyms | 10q23del, 2310035O07RIK, A130070J02Rik, B430203M17RIK, BZS, CWS1, DEC, GLM2, MHAM, Mmac, MMAC1, MUTATED IN MULTIPLE ADVANCED CANCERS, mutated in multiple advanced cancers 1, O54857, phosphatase and tensin homolog, PTEN1, PTENbeta, PTENgama, TEP1 |
| 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 PTEN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid binding domain
- protein tyrosine/serine/threonine phosphatase
- protein-tyrosine-phoshatase
- protein serine/threonine phosphatase
- phosphoinositide phosphatase
- PTP_DSP_cys
- enzyme activator activity
- identical protein binding
- Protein tyrosine phosphatase, catalytic domain motif
- Protein tyrosine phosphatase, catalytic domain, undefined specificity
- multiple inositol-polyphosphate phosphatase
- phosphatidylinositol-3-phosphatase
- protein phosphatase
- C2 domain of PTEN tumour-suppressor protein
- phosphatase
- tail domain
- protein kinase binding
- protease binding
- catalytic domain
- beta-catenin binding
- lipid phosphatase domain
- nuclear localization sequence
- platelet-derived growth factor receptor binding
- enzyme binding
- enzyme regulator activity
- protein binding
- phosphatase domain
- ionotropic glutamate receptor binding
- PDZ-domain binding
- PTPase domain
- phosphorylation site
- PEST domain
- binding protein
- phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase
- inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase
- PDZ binding motif
Pathways
Biological processes and signaling networks where the PTEN 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
- rheumatoid arthritis
- precursor B-cell acute lymphoblastic leukemia
- bleeding
- metastasis
- cancer
- neoplasia
- T acute lymphoblastic leukemia
- splenomegaly
- liver neoplasia
- neurological disorder
role in cell
- proliferation
- expression in
- apoptosis
- colony formation
- phosphorylation in
- migration
- differentiation
- cell death
- binding in
- downregulation in
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
- nuclear fraction
- perinuclear region
- membrane surface
- cellular membrane
- Nucleus
- Plasma Membrane
- granules
- cytosol
- cytoplasmic face of plasma membrane
- apical membrane
- postsynaptic membrane
- nuclear foci
- nucleoplasm
- dendritic spines
- growth cone
- neurites
- myelin sheath inner loop
- Schmidt-Lanterman incisures
- membrane rafts
- cellular protrusions
- axons
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PTEN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system neuron axonogenesis
- spindle assembly involved in female meiosis
- positive regulation of sequence-specific DNA binding transcription factor activity
- learning or memory
- phosphatidylinositol dephosphorylation
- negative regulation of neuron projection development
- apoptotic process
- negative regulation of peptidyl-serine phosphorylation
- cellular response to electrical stimulus
- regulation of neuron projection development
- central nervous system myelin maintenance
- synapse maturation
- negative regulation of organ growth
- negative regulation of synaptic vesicle clustering
- negative regulation of cyclin-dependent protein kinase activity
- dentate gyrus development
- dendritic spine morphogenesis
- negative regulation of focal adhesion assembly
- regulation of protein kinase B signaling cascade
- synapse assembly
- central nervous system development
- adult behavior
- negative regulation of cell migration
- negative regulation of protein kinase B signaling cascade
- neuron-neuron synaptic transmission
- positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
- rhythmic synaptic transmission
- negative regulation of cell proliferation
- positive regulation of cell proliferation
- negative regulation of excitatory postsynaptic membrane potential
- forebrain morphogenesis
- phosphatidylinositol biosynthetic process
- maternal behavior
- heart development
- protein kinase B signaling cascade
- negative regulation of axonogenesis
- locomotory behavior
- negative regulation of epithelial to mesenchymal transition
- locomotor rhythm
- negative regulation of cell size
- presynaptic membrane assembly
- multicellular organismal response to stress
- postsynaptic density assembly
- negative regulation of G1/S transition of mitotic cell cycle
- canonical Wnt receptor signaling pathway
- negative regulation of keratinocyte migration
- cell migration
- negative regulation of cellular senescence
- social behavior
- prepulse inhibition
- protein dephosphorylation
- cell motility
- regulation of protein stability
- negative regulation of protein phosphorylation
- positive regulation of excitatory postsynaptic membrane potential
- protein stabilization
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- PML body
- extracellular region
- cell projection
- neuron projection
- plasma membrane
- nucleoplasm
- internal side of plasma membrane
- nucleus
- myelin sheath adaxonal region
- cytoplasm
- Schmidt-Lanterman incisure
- dendritic spine
- cytosol
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- lipid binding
- protein serine/threonine phosphatase activity
- phosphoprotein phosphatase activity
- phosphatidylinositol-3-phosphatase activity
- protein binding
- protein tyrosine phosphatase activity
- PDZ domain binding
- inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity
- inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity
- anaphase-promoting complex binding
- phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity
- phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity
- myosin phosphatase activity
- phosphatidylinositol phosphate phosphatase activity
- enzyme binding