FAM13A Gene Summary [Human]
Predicted to enable GTPase activator activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Predicted to be located in cytosol. Implicated in chronic obstructive pulmonary disease. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | FAM13A |
| Official Name | family with sequence similarity 13 member A [Source:HGNC Symbol;Acc:HGNC:19367] |
| Ensembl ID | ENSG00000138640 |
| Bio databases IDs | |
| Aliases | family with sequence similarity 13 member A |
| Synonyms | ARHGAP48, D430015B01Rik, FAM13A1, family with sequence similarity 13 member A, family with sequence similarity 13, member A, Precm1, RGD1309807 |
| 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 FAM13A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RhoGAP domain
- GTPase activator
- GTPase-activator protein for Rho-like GTPases
- RhoGAP
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- inflammatory bowel disease
- systemic lupus erythematosus
- non-insulin-dependent diabetes mellitus
- acute myeloid leukemia
- chronic obstructive pulmonary disease
- sunburn
- metabolic syndrome X
- open-angle glaucoma
- chronic bronchitis
- COVID-19
role in cell
- activation in
- expression in
- signaling in
- degradation 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
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FAM13A 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
- signal transduction
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- GTPase activator activity