COBL Gene Summary [Human]
This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016]
Details
| Type | Protein Coding |
| Official Symbol | COBL |
| Official Name | cordon-bleu WH2 repeat protein [Source:HGNC Symbol;Acc:HGNC:22199] |
| Ensembl ID | ENSG00000106078 |
| Bio databases IDs | |
| Aliases | cordon-bleu WH2 repeat protein |
| Synonyms | cordon-bleu WH2 repeat, cordon-bleu WH2 repeat protein, KIAA0633 |
| 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 COBL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cordon-bleu ubiquitin-like domain
- WH2
- actin monomer 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
- non-insulin-dependent diabetes mellitus
- lung squamous cell carcinoma
- squamous cell lung cancer
- androgenic alopecia
- refractive error
- vascular disease
role in cell
- development
- regrowth
- assembly
- degeneration
- abnormal morphology
- orientation
- polymerization
- organization
- network formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- axon component
- ruffle
- cilia
- perinuclear region
- cellular membrane
- cell cortex
- actin filaments
- terminal web
- perikaryon
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COBL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- actin filament polymerization
- collateral sprouting in absence of injury
- embryonic axis specification
- positive regulation of ruffle assembly
- positive regulation of dendrite development
- neural tube closure
- notochord development
- digestive tract development
- somite specification
- liver development
- actin filament network formation
- floor plate development
Cellular Component
Where in the cell the gene product is active
- dendrite
- dendritic growth cone
- perinuclear region of cytoplasm
- axonal growth cone
- cell cortex
- membrane
- ruffle
- neuronal cell body
- actin filament
- axon
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- actin monomer binding