GAPVD1 Gene Summary [Human]
Enables GTPase activating protein binding activity and guanyl-nucleotide exchange factor activity. Involved in regulation of protein transport. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | GAPVD1 |
| Official Name | GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:HGNC:23375] |
| Ensembl ID | ENSG00000165219 |
| Bio databases IDs | |
| Aliases | GTPase activating protein and VPS9 domains 1 |
| Synonyms | 2010005B09Rik, 4432404J10Rik, DKFZp434C212, GAPEX5, GTPase activating protein and VPS9 domains 1, mKIAA1521, RAP6, RGD1307479, RME-6 |
| 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 GAPVD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ras GTPase Activating Domain
- guanyl-nucleotide exchange factor
- VPS9p domain
- GTPase-activator protein for Ras-like GTPase
- Vacuolar sorting protein 9 (VPS9) domain
- RGD motif
- protein binding
- GTPase Activating Protein domain
- Domain of unknown function (DUF5601)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- neoplasia
- psoriasis
- obstructive sleep apnea
- infection by HIV-1
role in cell
- expression in
- production in
- activation in
- uptake in
- endocytosis by
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
- Plasma Membrane
- vesicles
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GAPVD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of protein transport
- endocytosis
Cellular Component
Where in the cell the gene product is active
- endocytic vesicle
- endosome
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- cadherin binding
- guanyl-nucleotide exchange factor activity
- GTPase activator activity
- small GTPase binding
- GTPase activating protein binding