COTL1 Gene Summary [Human]
This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | COTL1 |
| Official Name | coactosin like F-actin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:18304] |
| Ensembl ID | ENSG00000103187 |
| Bio databases IDs | |
| Aliases | coactosin like F-actin binding protein 1 |
| Synonyms | 1810074P22Rik, 2010004C08Rik, CLP, coactosin-like F-actin binding protein 1, Coactosin-like Rho GDP-Dissociation Inhibitor |
| 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 COTL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cofilin/tropomyosin-type actin-binding protein
- Actin depolymerization factor/cofilin- and gelsolin-like domains
- actin binding
- enzyme binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- squamous-cell carcinoma
- squamous cell cancer
- androgenic alopecia
- autoimmune pancreatitis
- maculopapular rash
- epilepsy
role in cell
- formation in
- growth
- growth 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
- insoluble fractions
- secretory granule lumen
- ficolin-1-rich granule lumen
- Extracellular Space
- cytosol
- growth cone
- actin stress fibers
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COTL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of actin filament polymerization
- defense response to fungus
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- site of polarized growth
- cytosol
- secretory granule lumen
- actin filament
- extracellular region
- cortical actin cytoskeleton
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- protein binding
- actin binding
- enzyme binding