CARMIL1 Gene Summary [Human]
Involved in several processes, including actin filament network formation; plasma membrane bounded cell projection organization; and positive regulation of cellular component organization. Located in several cellular components, including lamellipodium; macropinosome; and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | CARMIL1 |
| Official Name | capping protein regulator and myosin 1 linker 1 [Source:HGNC Symbol;Acc:HGNC:21581] |
| Ensembl ID | ENSG00000079691 |
| Bio databases IDs | |
| Aliases | capping protein regulator and myosin 1 linker 1, capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium) |
| Synonyms | 1110037D04RIK, capping protein regulator and myosin 1 linker 1, CARMIL, CARMIL1a, CARML1, D130057M20, dJ501N12.1, dJ501N12.5, LOC340186, LRRC16, LRRC16A |
| 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 CARMIL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Carmil pleckstrin homology domain
- CARMIL C-terminus
- protein phosphatase 1 regulatory subunit 42
- binding protein
- enzyme
- 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
- coronary artery disease
- schizophrenia
- thrombocytopenia
- venous thromboembolism
- neuroticism
- systemic lupus erythematosus
- anorexia nervosa
- lung carcinoma
- lung carcinoma process
- insulin-dependent diabetes mellitus
regulates
- uric acid
role in cell
- migration
- network formation
- assembly
- macropinocytosis by
- organization
- polymerization
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
- intermediate filament cytoskeleton
- Nucleus
- Plasma Membrane
- actin filaments
- cytosol
- nucleoplasm
- nuclear speckles
- cell membrane leading edge
- lamellipodia
- macropinosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CARMIL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- actin filament organization
- positive regulation of substrate adhesion-dependent cell spreading
- urate metabolic process
- macropinocytosis
- positive regulation of stress fiber assembly
- ruffle organization
- negative regulation of barbed-end actin filament capping
- positive regulation of actin filament polymerization
- actin filament network formation
- lamellipodium assembly
- barbed-end actin filament uncapping
- cell migration
- positive regulation of cell migration
- regulation of Arp2/3 complex-mediated actin nucleation
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cell leading edge
- nuclear speck
- macropinosome
- cytosol
- filamentous actin
- plasma membrane
- lamellipodium
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding