Aliases for STAP1 Gene
External Ids for STAP1 Gene
Previous GeneCards Identifiers for STAP1 Gene
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]
GeneCards Summary for STAP1 Gene
STAP1 (Signal Transducing Adaptor Family Member 1) is a Protein Coding gene. Among its related pathways are Kit receptor signaling pathway. GO annotations related to this gene include protein kinase binding and SH3/SH2 adaptor activity. An important paralog of this gene is STAP2.
UniProtKB/Swiss-Prot for STAP1 Gene
In BCR signaling, appears to function as a docking protein acting downstream of TEC and participates in a positive feedback loop by increasing the activity of TEC.