SH3GL1 Gene Summary [Human]
This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Details
| Type | Protein Coding |
| Official Symbol | SH3GL1 |
| Official Name | SH3 domain containing GRB2 like 1, endophilin A2 [Source:HGNC Symbol;Acc:HGNC:10830] |
| Ensembl ID | ENSG00000141985 |
| Bio databases IDs | |
| Aliases | SH3 domain containing GRB2 like 1, endophilin A2, extra 11-19 leukemia fusion, fusion partner of MLL, SH3-containing Grb-2-like 1 protein, SH3-containing protein EEN, SH3 domain GRB2-like 1, endophilin A2 |
| Synonyms | CNSA1, EEN, Endophilin a1, Endophilin A2, LOC81922, SH3D2B, SH3 domain containing GRB2 like 1, endophilin A2, SH3 domain GRB2-LIKE 1, SH3P8 |
| 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 SH3GL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein-coupled receptor binding
- ion channel binding
- enzyme binding
- coiled-coil domain
- BAR domain
- protein binding
- Bin/amphiphysin/Rvs domain for vesicular trafficking
- Bin/Amphiphysin/Rvs domain
- identical protein binding
- SH3-domain binding
- Src Homology 3 domain superfamily
- phosphatase binding
Pathways
Biological processes and signaling networks where the SH3GL1 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
- renal fibrosis
- dyspnea
- kidney disease
- rheumatoid arthritis
- neurodegeneration
- acute myeloid leukemia
- growth failure
- seizures
- arthritis
role in cell
- proliferation
- growth
- expression in
- phosphorylation in
- apoptosis
- accumulation in
- accumulation
- abnormal morphology
- transformation
- self-renewal
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
- cell periphery
- cytosol
- nerve ending
- synapse
- axosomatic synapses
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SH3GL1 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
- signal transduction
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- anchoring junction
- cytoplasm
- cytosol
- cell projection
- podosome
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- cadherin binding
- lipid binding