STAP1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| signal transducing adaptor family member 1 | MIM:604298 | Ensembl:ENSG00000035720 | HGNC:HGNC:24133 | PA162404948 | 4q13.2 |
GO terms in STAP1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| BP | ISS | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway |
| BP | ISS | GO:0010628 | positive regulation of gene expression |
| BP | ISS | GO:0010760 | negative regulation of macrophage chemotaxis |
| BP | ISS | GO:0042326 | negative regulation of phosphorylation |
| BP | IDA | GO:0050861 | positive regulation of B cell receptor signaling pathway |
| BP | ISS | GO:0060100 | positive regulation of phagocytosis, engulfment |
| BP | ISS | GO:0071222 | cellular response to lipopolysaccharide |
| BP | ISS | GO:1900028 | negative regulation of ruffle assembly |
| BP | ISS | GO:1902227 | negative regulation of macrophage colony-stimulating factor signaling pathway |
| BP | ISS | GO:1903980 | positive regulation of microglial cell activation |
| BP | IDA | GO:1903997 | positive regulation of non-membrane spanning protein tyrosine kinase activity |
| BP | IEA | GO:1904140 | negative regulation of microglial cell migration |
| BP | ISS | GO:1904151 | positive regulation of microglial cell mediated cytotoxicity |
| BP | ISS | GO:2000251 | positive regulation of actin cytoskeleton reorganization |
| MF | IPI | GO:0001784 | phosphotyrosine residue binding |
| MF | ISS | GO:0005068 | transmembrane receptor protein tyrosine kinase adaptor activity |
| MF | IPI | GO:0005070 | SH3/SH2 adaptor activity |
| MF | IEA | GO:0005157 | macrophage colony-stimulating factor receptor binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | NAS | GO:0005543 | phospholipid binding |
| MF | IPI | GO:0019901 | protein kinase binding |
Gene expression in normal tissue: STAP1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in STAP1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| netpath | Pathway_BCR | BCR |
| pid | kitpathway | Signaling events mediated by Stem cell factor receptor (c-Kit) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in STAP1
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