PLEKHA1 Gene Summary [Human]
This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
Details
| Type | Processed Transcript |
| Official Symbol | PLEKHA1 |
| Official Name | pleckstrin homology domain containing A1 [Source:HGNC Symbol;Acc:HGNC:14335] |
| Ensembl ID | ENSG00000107679 |
| Bio databases IDs | |
| Aliases | pleckstrin homology domain containing A1, tandem PH domain containing protein-1 |
| Synonyms | AA960558, C920009D07Rik, pleckstrin homology domain containing A1, pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1, RGD1564153, scl000260.1 64, TAPP1 |
| 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 PLEKHA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- PH domain
- protein binding
- Pleckstrin homology-like domain
- PDZ-domain binding
Pathways
Biological processes and signaling networks where the PLEKHA1 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
- pain
- chronic pain
- non-insulin-dependent diabetes mellitus
- COVID-19
- hypothyroidism
- Alzheimer disease
- disease-free survival
- autoimmune thyroid disease
- glomerulonephritis
- ischemic stroke
role in cell
- expression in
- phosphorylation in
- differentiation
- formation
- proliferation
- activity
- development
- frequency
- respiration
- response by
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
- Nucleus
- Plasma Membrane
- cytosol
- membrane ruffles
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PLEKHA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- estrogen metabolic process
- spermatogenesis
- post-embryonic development
- palate development
- platelet-derived growth factor receptor signaling pathway
- skeletal system morphogenesis
- face morphogenesis
- luteinization
- establishment of protein localization
- androgen metabolic process
- protein kinase B signaling cascade
- ruffle organization
- cellular response to hydrogen peroxide
- Leydig cell differentiation
- negative regulation of protein kinase B signaling cascade
- B cell receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- membrane
- cytosol
- ruffle membrane
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- PDZ domain binding
- lipid binding
- phosphatidylinositol-3,4-bisphosphate binding