SYNJ1 Gene Summary [Human]
This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Details
| Type | Protein Coding |
| Official Symbol | SYNJ1 |
| Official Name | synaptojanin 1 [Source:HGNC Symbol;Acc:HGNC:11503] |
| Ensembl ID | ENSG00000159082 |
| Bio databases IDs | |
| Aliases | synaptojanin 1, phosphoinositide 5-phosphatase, synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1, inositol polyphosphate-5-phosphatase G |
| Synonyms | A930006D20RIK, DEE53, EIEE53, INPP5G, mKIAA0910, PARK20, synaptojanin 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 SYNJ1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphatidylinositol 5' phosphatase domain
- Kruppel-like factor (KLF) 9, KLF13, KLF14, KLF16, and similar proteins
- RNA recognition motif (RRM) superfamily
- Family of unknown function (DUF5585)
- phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase
- MAPK-interacting and spindle-stabilising protein-like
- RNA recognition motif
- inositol-polyphosphate 5-phosphatase
- protein domain specific binding
- phosphoinositide 5-phosphatase
- protein binding
- Proline-rich protein
- SH3-domain binding
- Sh3 domain binding motif
- binding protein
- phosphatidylinositol-3-phosphatase
- Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
- NPF motif
- phosphatase
- Domain of unknown function (DUF1866)
- SacI homology domain
Pathways
Biological processes and signaling networks where the SYNJ1 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
- COVID-19
- hereditary disorder
- X-linked myoclonic epilepsy with generalized spasticity and intellectual disability
- glioblastoma
- glioblastoma cancer
- growth failure
- chronic lymphocytic leukemia
- early infantile epileptic encephalopathy type 53
- Alzheimer disease
- seizures
role in cell
- expression in
- activation in
- formation
- degradation in
- quantity
- uncoating
- organization
- endocytosis by
- formation in
- accumulation 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
- glutaminergic synapse
- presynaptic regions
- cilia
- perinuclear region
- cellular membrane
- microtubules
- cytosol
- vesicle membrane
- synaptic membrane
- synapse
- clathrin-coated pits
- axon terminals
- excitatory synapses
- clathrin-coated vesicles
- synaptosomal fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SYNJ1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane organization
- inositol phosphate metabolic process
- phosphatidylinositol-3-phosphate biosynthetic process
- phosphatidylinositol metabolic process
- phosphatidylinositol biosynthetic process
- learning
- phosphatidylinositol dephosphorylation
- neurotransmitter transport
- synaptic vesicle uncoating
- synaptic vesicle priming
- synaptic vesicle transport
- synaptic vesicle endocytosis
Cellular Component
Where in the cell the gene product is active
- membrane coat
- perinuclear region of cytoplasm
- terminal button
- vesicle membrane
- clathrin coat of coated pit
- cytosol
- synaptic membrane
- microtubule
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity
- phosphatidylinositol-4-phosphate phosphatase activity
- phosphatidylinositol-3-phosphatase activity
- protein binding
- RNA binding
- phosphatidylinositol phosphate 4-phosphatase activity
- phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
- phosphatidylinositol phosphate 5-phosphatase activity
- phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
- SH3 domain binding
- inositol-1,4,5-trisphosphate 5-phosphatase activity