GAB1 Gene Summary [Human]
The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Details
| Type | Protein Coding |
| Official Symbol | GAB1 |
| Official Name | GRB2 associated binding protein 1 [Source:HGNC Symbol;Acc:HGNC:4066] |
| Ensembl ID | ENSG00000109458 |
| Bio databases IDs | |
| Aliases | GRB2 associated binding protein 1 |
| Synonyms | DFNB26, GRB2-ASSOCIATED BINDER-1, GRB2-associated binding protein 1, growth factor receptor bound protein 2-associated protein 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 GAB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PLC gamma binding domain
- Met binding domain
- PI3K binding domain
- crk/CRKL binding domain
- protein binding activity, bridging
- PH domain
- protein binding
- phosphotyrosine binding domain
- Pleckstrin homology-like domain
- proline rich domain
- SHP-2 binding domain
- Grb2 binding domain
Pathways
Biological processes and signaling networks where the GAB1 gene in human plays a role, providing insight into its function and relevance in health or disease.
- B Cell Receptor Signaling
- Endothelin-1 Signaling
- ERK5 Signaling
- Fc Epsilon RI Signaling
- FGF Signaling
- GDNF Family Ligand-Receptor Interactions
- HGF Signaling
- IL-4 Signaling
- Insulin Receptor Signaling
- Molecular Mechanisms of Cancer
- Neurotrophin/TRK Signaling
- NGF Signaling
- Regulation of the Epithelial-Mesenchymal Transition Pathway
- Renal Cell Carcinoma Signaling
- Role of NANOG in Mammalian Embryonic Stem Cell Pluripotency
- SAPK/JNK Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- systemic sclerosis
- acute myeloid leukemia
- heart failure
- asthma
- cervical cancer
- pulmonary fibrosis
- endocardial fibroelastosis
- autosomal recessive deafness type 26
- polycystic ovary syndrome
- multiple system atrophy
role in cell
- expression in
- apoptosis
- phosphorylation in
- invasion by
- activation in
- replication in
- proliferation
- migration
- signaling in
- growth
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
- membrane fraction
- abaxonal cytoplasm
- cell periphery
- cell cortex
- intercellular junctions
- cell-cell contacts
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GAB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- angiogenesis
- response to hepatocyte growth factor stimulus
- signal transduction
- insulin receptor signaling pathway
- epidermal growth factor receptor signaling pathway
- vascular endothelial growth factor signaling pathway
- endothelial cell chemotaxis
- positive regulation of blood vessel endothelial cell migration
- positive regulation of angiogenesis
Cellular Component
Where in the cell the gene product is active
- cell-cell junction
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- signaling adaptor activity