LLGL1 Gene Summary [Human]
This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | LLGL1 |
| Official Name | LLGL scribble cell polarity complex component 1 [Source:HGNC Symbol;Acc:HGNC:6628] |
| Ensembl ID | ENSG00000131899 |
| Bio databases IDs | |
| Aliases | LLGL scribble cell polarity complex component 1 |
| Synonyms | DLG4, HUGL, HUGL-1, Lgl, LGL1, LLGL, LLGL1 scribble cell polarity complex component, LLGLH, LLGL scribble cell polarity complex component 1, Mgl1, Mlgl, Rgl-1 |
| 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 LLGL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase binding
- enzyme binding
- GTPase activator
- protein binding
- structural molecule
- LLGL2
Pathways
Biological processes and signaling networks where the LLGL1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hydrocephalus
- intraventricular hemorrhage
role in cell
- formation
- proliferation
- formation in
- number
- migration
- differentiation
- organization
- development
- K48 polyubiquitination in
- apico-basal polarity
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
- cortical actin cytoskeleton
- cytoskeleton
- Plasma Membrane
- basolateral membrane
- trans Golgi network
- endosomal membrane
- myelin sheath outer loop
- Schmidt-Lanterman incisures
- anchoring junction
- Golgi cisternae
- cell membrane leading edge
- axons
- cell-cell adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LLGL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cortical actin cytoskeleton organization
- regulation of establishment or maintenance of cell polarity
- macromolecular complex assembly
- regulation of Notch signaling pathway
- establishment or maintenance of epithelial cell apical/basal polarity
- axonogenesis
- Golgi to plasma membrane transport
- establishment of spindle orientation
- exocytosis
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- adherens junction
- cytoskeleton
- cytoplasm
- Golgi membrane
- Golgi cis cisterna
- axon
- plasma membrane
- trans-Golgi network membrane
- cortical actin cytoskeleton
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein binding
- GTPase activator activity
- myosin II binding
- structural molecule activity