RALGAPA1 Gene Summary [Human]
This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]
Details
| Type | Protein Coding |
| Official Symbol | RALGAPA1 |
| Official Name | Ral GTPase activating protein catalytic subunit alpha 1 [Source:HGNC Symbol;Acc:HGNC:17770] |
| Ensembl ID | ENSG00000174373 |
| Bio databases IDs | |
| Aliases | Ral GTPase activating protein catalytic subunit alpha 1, tuberin-like protein 1, GAP-related interacting protein to E12 |
| Synonyms | 2310003F20Rik, 4930400K19Rik, GARNL1, GARNL2, GRIPE, mKIAA0884, NEDHRIT, RalGAPalpha1, Ral GTPase activating protein, alpha subunit 1, Ral GTPase activating protein catalytic subunit alpha 1, Ral GTPase activating protein catalytic subunit α 1, Ral GTPase activating protein, α subunit 1, TULIP1, Tulip2 |
| 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 RALGAPA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rap/ran-GAP
- GTPase activator
- protein binding
- protein heterodimerization
- RALGAPB N-terminal domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
- fibrosis
- hereditary disorder
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
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RALGAPA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of small GTPase mediated signal transduction
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- protein heterodimerization activity
- GTPase activator activity