STAP1 Gene Summary [Human]
The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | STAP1 |
| Official Name | signal transducing adaptor family member 1 [Source:HGNC Symbol;Acc:HGNC:24133] |
| Ensembl ID | ENSG00000035720 |
| Bio databases IDs | |
| Aliases | signal transducing adaptor family member 1, BCR downstream signaling 1 |
| Synonyms | BRDG1, RGD1311584, signal transducing adaptor family member 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 STAP1 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
- receptor tyrosine kinase binding
- macrophage colony stimulating factor receptor binding
- protein binding activity, bridging
- Src homology 2 (SH2) domain
- phosphotyrosine binding
- protein binding
- Pleckstrin homology-like domain
- transmembrane receptor protein tyrosine kinase adaptor protein
- protein tyrosine kinase activator
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- insulin-dependent diabetes mellitus
- prostate cancer
- familial hyperlipoproteinemia type IIa
- chronic obstructive pulmonary disease
- Parkinson disease
- hepatic necrosis
- uveal melanoma
- ocular melanoma
role in cell
- production in
- phosphorylation in
- expression in
- quantity
- differentiation
- formation
- phagocytosis by
- assembly
- formation in
- chemotaxis
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
- centrosome
- Mitochondria
- cytosol
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human STAP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of B cell receptor signaling pathway
- positive regulation of phagocytosis, engulfment
- cellular response to lipopolysaccharide
- positive regulation of gene expression
- transmembrane receptor protein tyrosine kinase signaling pathway
- negative regulation of macrophage chemotaxis
- negative regulation of ruffle assembly
- negative regulation of phosphorylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- centriolar satellite
- mitochondrion
- cytosol
- macromolecular complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- phosphotyrosine binding
- protein kinase binding
- protein binding
- signaling adaptor activity
- protein tyrosine kinase activator activity
- transmembrane receptor protein tyrosine kinase adaptor activity
- phospholipid binding
- macrophage colony-stimulating factor receptor binding