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