AFAP1 Gene Summary [Human]
The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Details
| Type | Protein Coding |
| Official Symbol | AFAP1 |
| Official Name | actin filament associated protein 1 [Source:HGNC Symbol;Acc:HGNC:24017] |
| Ensembl ID | ENSG00000196526 |
| Bio databases IDs | |
| Aliases | actin filament associated protein 1 |
| Synonyms | 2600003E23Rik, 9630044L16Rik, actin filament associated protein 1, AFAP, AFAP-110, mKIAA3018 |
| 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 AFAP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- actin-binding domain
- Autophagy protein 16 (ATG16)
- Ezrin/radixin/moesin, alpha-helical domain
- SH2-domain binding
- Coiled-coiled domain of autophagy-related 16 (Atg16) family proteins
- PH domain
- Pkc binding domain
- leucine zipper domain
- protein binding
- Pleckstrin homology-like domain
- SH3-domain binding
- Sh3 domain binding motif
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- biliary atresia
- prostate cancer
- open-angle glaucoma
- chronic obstructive pulmonary disease
- glaucoma
- breast cancer
- nonobstructive azoospermia
- Dupuytren contracture
- diverticular disease
role in cell
- proliferation
- cell death
- quantity
- migration
- organization
- adhesion
- cross-linkage
- localization in
- number
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
- cellular membrane
- focal adhesions
- actin cytoskeleton
- actin filaments
- cytosol
- actin stress fibers
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AFAP1 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- focal adhesion
- stress fiber
- actin cytoskeleton
- cytosol
Molecular Function
What the gene product does at the molecular level
- actin binding
- SH3 domain binding
- SH2 domain binding