SH3GL3 Gene Summary [Human]
Enables identical protein binding activity. Predicted to be involved in synaptic vesicle uncoating. Predicted to be located in acrosomal vesicle; early endosome membrane; and presynapse. Predicted to be part of early endosome. Predicted to be active in glutamatergic synapse; postsynaptic density, intracellular component; and postsynaptic endosome. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | SH3GL3 |
| Official Name | SH3 domain containing GRB2 like 3, endophilin A3 [Source:HGNC Symbol;Acc:HGNC:10832] |
| Ensembl ID | ENSG00000140600 |
| Bio databases IDs | |
| Aliases | SH3 domain containing GRB2 like 3, endophilin A3, endophilin A3 |
| Synonyms | CNSA3, EEN-B2, Endophilin a3, HsT19371, SH3D2C, Sh3d2c1, Sh3d2c2, SH3 domain containing GRB2 like 3, endophilin A3, SH3-domain GRB2-like 3, SH3G3, SH3P13 |
| 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 SH3GL3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- BAR domain
- Bin/Amphiphysin/Rvs domain
- identical protein binding
- Src Homology 3 domain superfamily
Pathways
Biological processes and signaling networks where the SH3GL3 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
- proteinuria
- chronic kidney disease
- glioblastoma
- glioblastoma cancer
- chronic obstructive pulmonary disease
- schizophrenia
- androgenic alopecia
- dyspnea
- seizures
- inflammatory bowel disease
regulates
role in cell
- growth
- differentiation
- accumulation
- abnormal morphology
- accumulation in
- synaptic depression
- synaptic transmission
- recycling
- abnormal quantity
- endocytosis 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
- organelle
- presynaptic regions
- endosomes
- cytosol
- acrosome
- nerve ending
- early endosomes
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SH3GL3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- synaptic vesicle uncoating
- central nervous system development
- negative regulation of clathrin-mediated endocytosis
- signal transduction
- positive regulation of neuron differentiation
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- cytoplasm
- acrosomal vesicle
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- lipid binding