PHACTR1 Gene Summary [Human]
The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Details
| Type | Protein Coding |
| Official Symbol | PHACTR1 |
| Official Name | phosphatase and actin regulator 1 [Source:HGNC Symbol;Acc:HGNC:20990] |
| Ensembl ID | ENSG00000112137 |
| Bio databases IDs | |
| Aliases | phosphatase and actin regulator 1 |
| Synonyms | 9630030F18Rik, DEE70, dJ257A7.2, EIEE70, Phactr, phosphatase and actin regulator 1, RPEL, RPEL1 |
| 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 PHACTR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RPEL repeat
- protein phosphatase 1 binding
- actin 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
- metabolic syndrome X
- Huntington disease
- myocardial infarction
- coronary artery disease
- atherosclerosis
- migraines
- angina pectoris
- insomnia
- pain
- acute myeloid leukemia
role in cell
- expression in
- phosphorylation in
- formation
- production in
- migration
- adhesion
- invasion by
- motility
- migration by
- organization
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
- postsynaptic density (PSD) fractions
- glutaminergic synapse
- perinuclear region
- postsynaptic region
- Nucleus
- cytosol
- dendritic spines
- synapse
- filopodia
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHACTR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell motility
- actomyosin structure organization
- cerebral cortex development
- stress fiber assembly
- regulation of neuron migration
- actin cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- synapse
Molecular Function
What the gene product does at the molecular level
- protein phosphatase inhibitor activity
- protein binding
- actin binding